Patient Histories
Learn more about the patient experience through the stories shared below. We’ve gathered this robust collection of stories since 2001 – patients and parents submitted the information below with the request to publish on our website. All information was voluntarily shared by patients and is posted as originally sent to us, less any personally identifying information.
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Disclaimer: The following information is shared by fellow melorheostosis patients about their own personal experiences dealing with this rare condition. It is in no way intended as a recommendation of any particular treatment, surgery, therapy, or course of action, nor as a substitute for the expertise and judgment of your physician or other health care professional.
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| First Name | Last Initial | Year Posted | City | State | Country | Area Affected | Personal Stories |
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| Kathleen | H | 2001 | New York | NY | USA | right hand, bilateral arms and shoulders | From early childhood my first symptoms were an overly wide right middle finger and extra calcium deposits on my right ring finger. As time progressed the condition worked its way up my right arm resulting in an additional “bump” on my right hand near the wrist and numerous little “lumps” in my right elbow. The condition in childhood was painless and caused no significant problems. No diagnosis was made during childhood and doctors were unconcerned since there were no complaints of pain or loss of function. In my late teen years I consulted an orthopedist who was enthralled by my x-rays and who, fortuitously, was on his way to a major orthopedic conference. He presented the x-rays at the conference and reported that they sparked an animated debate, splitting the conference down the middle as to the diagnosis (the debate was between melorheostosis and a second condition, the name of which I have forgotten but which I was told should have killed me by the age of 16!) Attending the conference was a doctor I was later told was the best in the field, Dr. William F. Enneking (now retired), from the University of Florida College of Medicine. I consulted him and he was sure the diagnosis was melorheostosis. He said he believed I would eventually lose some degree of function of my right hand and at that point surgery would probably be necessary. I consulted Dr. Enneking annually for a number of years and have been in touch from time to time with this gifted and caring physician. Over the years, the melorheostosis continued to progress up my right arm, causing my upper arm to be somewhat misshapen, with the area near the elbow wider than normal and the area toward the shoulder narrower than normal. I’ve had pain-- constant achy pain with varying intensity--and an array of other pains that would periodically come and go. I also had stiffness in the hand, arm and shoulder and eventually lost the full extension of my right elbow. I did not, however, ever lose the function of my hand. I had always been told that my condition was limited to my right hand and arm and that, by approximately age 30, the progression would stop and I would be left with the resulting deformities. Eventually, however, I developed pain and stiffness in my neck and shoulders. X-rays showed significant melorheostosis not only in the bones but also the surrounding tissue, which contained substantial deposits of calcium. The major surprise was that my left upper arm and shoulder, which had no external symptoms, were affected at least as badly as the right. The melorheostosis has now continued down my left arm and can be seen in x-rays and MRIs of my left elbow. It appears not to have gone into my left forearm or left hand at this point. (Of course, I do wonder what will happen when it reaches the end of my left hand.) Two years ago, I had surgery on my right middle finger to remove a lump of bone on top of the right middle finger, by an orthopedic surgeon who specialized in hand surgery, Dr. Richard Eaton (now retired). The lump was positioned in such a way that it hit on everything and caused, what is to me characteristic, intense achy pain. (I have also found that whenever I hit a lump caused by melorheostosis, the bone reacts by laying down yet another layer of bone so a bump that continues to be hit, continues to grow larger.) The surgery went well and healed normally except for a reaction to the stitches. At the point where the knot was placed I had a reaction of inflammation, which caused a new lump of bone to form, which is now larger than the lump that was removed. The lump that was removed has grown back slightly. Looking back, I feel the surgery was a mistake because of the unanticipated reaction of the melorheostotic bone to the surgery. My current dilemma: Despite the melorheostosis in my upper extremities, bone density tests have revealed near osteoporosis in my hip and spine. This discovery leads me to pose the following questions (which I will also post on the Discussion Board): 1) Can melorheostosis is one area of the body cause osteoporosis/osteopenia in other areas or are these two independent processes? 2) Is there any information on the effect of treatment for osteoporosis/osteopenia, e.g. bisphosphonates, on melorheostosis? Comments: I know only good things can come from all of us with melorheostosis forming a supportive, sharing community via this wonderful, powerful Internet. The sharing of our research and experiences is invaluable -- as several people have said, “We are no longer alone.” |
| Tammie | 2020 | Talihina | OK | USA | Second metarsal in right foot | I used to power walk lots of 5k’s and started having pain in my foot. Then the pain would turn in to extreme numbness and feel almost like I had a quarter sized rock in my shoe. I could not feel the entire left side of my foot...like after you’ve been numbed at the dentist. From there, the nerve pain would shoot down into my toes and I could barely finish the event. After a few times of this happening I went to my doctor and x-rays were taken. The results came back as melorheostosis on my second metatarsal of the right foot (side note: a heel spur showed as well). I was prescribed meloxicam which didn’t seem to help me. This was in 2018. I saw a podiatrist who said he’d never seen a patient with this disease and he only remembered what it was from his schooling because of the “dripping candle wax” name. He did not know what to do with me. I’m not sure what type of doctor I should seek out for this. My pain has progressively gotten much worse and I’m ready to do something about it. I live in a very rural area, so seeing any type of specialist will involve travel. I have gotten good shoes, but they only help so much. The pain comes without activity now as in the past it was only when I walked quite a distance. I’m concerned about how this might affect my day to day activities and quality of life if it continues to worsen. I know there are others out there much worse off than me and I feel for them! I found a Melo facebook group with members from around the world. I think my next step is to email my images and diagnosis report to “bone doctors” in my general area to see if they would be willing to consult with me. Thank you for your time. |
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| Dylan (Parents Ryan and Jamie) | 2019 | Northern KY/Cincinnati | OH | USA | Left Thumb, fingers, wrist, arm, elbow and shoulder | Dylan is a two pound, 30 week premature identical twin that had Twin to Twin transfusion syndrome in utero. He was the “donor” twin, he had a number of complications at birth from TTTS. Dylan spent 4 months in the NICU. He is a warrior and has been from the time of conception! He was diagnosed with Cerebral Palsy at 20 months by an MRI. He had numerous delays— spasticity present , tightness, and muscle tone. Around age 2, we started bracing his thumb because he constantly tucked it into his palm, as well as it looked deformed. It was very tight. Fast forward 6 years and I’m asking his orthopedic doctor if Botox would be an option for his thumb because it has just gotten worse over the years. (Dylan has had Botox in many places over the years to help stretch/loosen him up and take away some of the muscle tone) I remember taking Dylan for his X-ray ( common practice before Botox can be administered) & then the doctor asked us to come back to his office. When we did, that’s when they called in Dr. Kevin Little at Cincinnati Children’s hospital to deliver the news. That Dylan, in fact, wasn’t tight in his thumb/arm from his Cerebral Palsy, that it was a rare bone disease called Melorheostosis. I remember it feeling like a punch in the gut because over the years Dylan has had so many issues with his CP and there are always remedies to make it better. Maybe not take it away, but help with relief. We do therapy—OT & PT, he has had bracing, Botox, baclofen, selective dorsal rhizotomy—spine surgery, He’s had release surgeries, guided growth epiphysis surgery, medications, gait analysis, etc. But now they are telling us THERE IS NOTHING they can do. No treatment, no cure, no medication, etc. Now I’m supposed to just be okay/content with my son having two incurable diseases— cerebral palsy & melorheostosis! I AM NOT! I’m looking for more. This kid is Amazing. He takes on obstacles like a champ & I look at him in total amazement at his ability to just keep working harder and harder to be able to walk, go to school, just fit in with his peers while his body just fights against him. I know there has to be something out there to slow this melo down. In the meantime, I’m just hoping to keep him moving and pain free. Dylan has trouble with his left arm, his left thumb is tucked inside his palm, his range of motion is not good. He is unable to rotate his arm to get palm up. He cannot lift his left arm at his shoulder joint ( up over his head) Dylan is unsteady on his feet anyway, due to his CP and I’m constantly worried he’s going to trip and try to catch himself further damaging his left arm and aggravate his melo. This bone disease and all the unknowns terrify me. As his bone disease progresses, I know that with the CP also, everyday activities will just become more difficult. He is a very smart boy & wants to be independent! He has dreams of a career and family & living life on his own—dreams of being a “normal” productive member of society. All his life, he has just wanted to blend in a crowd, all the while his diseases are forcing him to stand out. I’m fully aware that these are things he can achieve, I just worry about the bone disease and CP holding him back. |
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| Bob (Parents Julie and Bob) | 2019 | Havertown | PA | USA | Left metatarsal and tibia | Originally diagnosed with Melorheostosis in 2013 at age 9. In 2013 we took Bob to a Podiatrist because his left leg looked thicker than his right leg and his left foot was 2 sizes smaller than right foot. X-rays were taken at that time and the Podiatrist referred us to the Children's Hospital of Philadelphia. We visited the Children's Hospital of Philadelphia and they diagnosed Bob with Melorheostosis. They did LEMD3 blood testing and the results were Negative. We then visited Nemours DuPont Hospital for a second opinion. We meet with Dr. Michael Bober (Genetics) and Dr. MacKenzie (Ortho). They confirmed the diagnosis there as well. Shortly after we first visited DuPont, Dr. Michael P. Whyte, Medical/Scientific Director at the Center for Metabolic Bone Disease and Moleular Research at Shriners Hospitals Hospital for Children in St. Louis, MO, was scheduled to visit DuPont. During his visit at the hospital he had a chance to review the x-rays and also confirmed the diagnosis. Bob visited Dr. Whyte at Shriners Hospital in 2015. Bob is often fatigued. He rarely complains of foot or leg pain but he often complains of back pain. Bob has a slight discrepancy in the length of his legs. | |
| Lisa | 2019 | Appletown | WI | USA | Right index finger, right thumb, right forearm, humerus and shoulder | As a child around age 6 noticed a bump on my right index finger and thickening of my right thumb. It seemed to bother me after I learned how to write and I asked my Mom about it. I cannot recall if we asked a doctor about it. About age 36, after my first child was born, I noticed another bump occur on the top part of my right forearm (I used to rest the car seat there when I would carry it). Asked my primary care MD and OB about it, but they did not know and it wasn’t hurting so we didn’t pursue it. In Jan 2019, noticed some right forearm swelling and one evening woke from sleep with severe pain and inability to lift arm. X-ray on 2/1/19 showed melorheostosis in the right forearm and could be seen extending to the thumb and index finger. 4/29/19 went to NIH for the Melo study. Left iliac crest biopsy and right forearm biopsy with removal of small portion of bone that was protruding into the muscle. |
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| Farheen | 2019 | Guwahati | Assam | INDIA | Shin of right leg | Diagnosed 10 months back in August, 2018. Symptoms before diagnosis – extreme pain and discoloration of the skin (brownish). After consulting 4 orthopedic surgeons who has no clue regarding Melorheostosis, one of them referred me to an Orthopedic Oncologist Specialist in Bangalore, India by the name DR. SRINIVAS CHIRUKURI, who have one more patient with Melo. After visiting him, he said we better not opt for biopsies or surgeries. And that the chances of Melo growing is not very high and affecting other areas of the body is rare as well. I am not quite convinced with this theory. | |
| Jeff | 2019 | Brunswick | ME | USA | Left tibia | I am a 49 year old male with Melorheostosis on my left tibia. I started noticing a lump on my shin when I was in high school but I assumed it was due to playing soccer and getting kicked in the shins so often. As it continued to grow, I started having moments of dull pain which prompted me to see a doctor when I was in college. He x-rayed it and decided it was simply something to keep an eye on. It wasn't until I was in my late twenties when living in Boston that I went to an ortho oncologist at Mass General who did bone scans and MRI tests. He did not biopsy it but decided it was likely Melorheostosis. I've been living in Maine for the past 15 years and no doctors here are familiar with this disorder. I have it x-rayed every couple of years to chart it's progress. The most noticeable difference now is the scaling skin that is worsening. My skin in that area is very brittle, itchy and is often bleeding. I am very lucky that the bone growth has not impacted my lifestyle. I do not experience extreme pain as many others do. I continue to play sports frequently. My concern is if the growth were to begin pressing on my fibula, I would be in extreme pain. | |
| Orla | 2018 | Omgah, CO | Tyrone | IRELAND | Left hand and elbow | In Sept 2013 I went to the doctor as I had been experiencing tingling in my little finger on my left arm which then went numb. I was referred to a consultant but as I didn't get to see him til April 2014 by then I had lost muscle mass just above my left thumb and between it and my forefinger and had no feeling in my last 2 fingers. He thought I had carpel tunnel so I went for an operation for this but on opening up my elbow he discovered a fibrous tumour like growth in my nerve so closed me up and referred me to a plastic surgeon, Mr. Lewis, who specialised in nerves in the Ulster Hospital Dundonald. By now I was unable to feel my little finger and fourth finger, had lost all power in my hand, was unable to move these fingers together and had chronic nerve pain. He operated in November 2014 and removed as much of this 10cm growth as possible but told me that as it had grown through the nerve sheath it was not possible to remove it all. Over the next year I waited for the nerve to regenerate. To cope with the pain I took 150mg of Tramadol morning and night along with 100mg of Lyrica night and day also. After a year, so in 2015, I noticed that I was beginning to be unable to straighten my elbow. This worsened over the next 2 years and it was now obvious that the nerve had not regenerated correctly, my contracture continued to worsen and I was suffering chronic pain. Mr Lewis took my case before the complex case committee. I have always had MRI and CT scans but now they also took xrays to see what was happening in my elbow. Together they came to the diagnosis of melorheostosis. The orthopaedic consultant Mr. Eames also from the Ulster Hospital told me he had never seen this before and that they needed to plan the way forward together. He made it clear to me that this was unknown territory and that there were no guarantees of success. They thought that the bone growth was impacting on the nerve so in November 2018 I went for a joint surgery to release my elbow and relocate the nerve. Again on opening my arm, they discovered that the bone had grown across my elbow but contrary to what they had thought the bone was not impacting on the nerve. Instead a growth had grown around the nerve and was compressing it but also that each individual fibre within the nerve was also being compressed. They spent 4 hours trying to release this. I am now recovering from this facing an unknown future still taking medication to dull the chronic nerve pain. I have been told it will take over 400 days for nerve to fully recover. I am due for a review in January 2018. I now have so many questions. The tumour and bone growth are obviously related but is this tumour going to continue to grow back leaving me facing an operation every few years? How quickly does the bone grow? Are there other options for treatment? At what speed does this disease progress? On discovering your site I was relieved to be able to read other histories. I am happy to assist in any research into this disease. | |
| Becky | 2018 | Bennington | VT | USA | Feet | ||
| Andres | 2017 | New York | NY | USA | Left tibia | I am a doctoral student in the Neurobiology and Behavior program at Columbia University. I enjoy running both recreationally and competitively. On an afternoon run, I noticed an acute pain on my left knee. The pain did not subside for several days, so I consulted my physician who referred me to an orthopedic oncologist. I was then shown the dense candle wax appearance on my x-ray film and subsequently told I had an incidental finding of melorheostosis. I continue to run and remain active despite the pain that returns on my left knee upon doing so. I have found that cooling the area with ice helps alleviate and accelerate my recovery. I have found a new motivation. I am fortunate that I am still able to be active. I plan on running on behalf of Melo and raising awareness along the way. I look forward to meeting my fellow Melo patients! | |
| Sinead | 2017 | IRELAND | RIght leg | My name is Sinead Hayes. I am 38 and living in Ireland. I have melorheostosis in my right leg. I had a hip replacement and growth moved off my knee. I feel like it is progressing again causing pain on veins and other areas. Has anyone got a recommendation for good pain relief? Thanks, | |||
| Petra | 2017 | Mayfield | KY | USA | Right tibia | My name is Petra Crutchfield, I live in Mayfield KY. I just found out (at the tender age of 62) that I have Melorheostosis! I have never heard of this disease. I am a fairly healthy person, never had a fracture of an arm or leg, however, within the last few years I have had discomfort in my right ankle after exercise (walking, jogging). Finally decided to have my ankle x-rayed. I made an appointment with Dr. Phillip Hunt, who has an excellent reputation in our area. The x-ray showed a shadow along my right tibia. I was sent for an x-ray of my lower leg. After the x-ray, I was told of this condition. Wow! What to do? Just live my life and hope it doesn't result in future disability. Thanks for your attention. | |
| Jessica | A | 2017 | Billings | MT | USA | Toes on right foot | Beginning at the age of about 12 I noticed I could not bend three of the toes on my right foot. I did experience some pain occasionally. I assumed that I had injured my toes even though I did not recall doing so. About 5 years ago I began to experience significant pain in those toes (and ankle) especially when having exercised. Two years ago purple spots appeared on two of my toes and they became even more tender to the touch. I received an x-ray and my physician immediately recognized what was wrong. She has referred me to an orthopedic whom I will see in 2 weeks. I will update here if I discover any additional information. I have yet to try any treatment for the pain or immobility. |
| John | 2017 | Waiehu | Maui | HAWAII | Hands and fingers | I first became aware of my melorheostosis from my Orthopedic Surgeon while living in Waiehu, Maui, Hawaii. So far, the affected areas are my hands and fingers. | |
| Sailesh | London | England | ENGLAND | Left leg, hip, knee, ankle | My name is Sailesh Thakrar age 59 born in Uganda. I immigrated to England in 1972 and was diagnosed with melorheostosis at the age of 20 at Stanmore Orthopedic Hospital by professor Bentley. The condition is on my left leg effecting my hip, knee and ankle. My left leg is slightly long by about an inch In 1992 and 1997 I had some bone removed from my knee to release the pain which professor suggested that the pain was travelling from my hip downwards. I am sporty and was playing cricket 3 times a week during summer period and badminton in the winter session. Initially I was taking pain killers 4 times a day and than changed my routine to take them when required and has been working. The time came when the pain was getting worse external rotation on my leg was getting limited. In April 2010 I had my left hip replaced at Stanmore Orthopedic and I understand I was the 1st patient in United Kingdom to have a hip replaced with my condition. The replacement was successful although the leg length discrepancies remain. In 2011 I gave up playing cricket not because of my condition but my age. I still play badminton 2 hours a week and go to the gym at least 4 times a week just to get the movement in my leg. I get pain in my knee when I have been sitting for a a long time and now mostly and regularly during the night. I am still working, driving and doing gardening on regular basis. I am very keen not to give up of my routine despite the pain. |
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| Lorenzo (Mother- Trisha) | 2016 | Kingsville | TX | USA | Left femur, right tibia | Lorenzo was first diagnosed in October of 2015 when he was 13. He had a football injury that we went in to have checked out. He hurt his hip and leg during a game. We took him in the next day due to pain and barely being able to walk. Well the x-rays did not show any fractures of breaks, what it did show was Melorheostosis. At first they would not tell me what it was, just told me to follow up with my pediatrician. A couple of days later we went to his dr., they ordered more x-rays still without telling us what it was. After all the x-rays, I'm assuming to make sure that was what they thought it was, they told us the diagnosis. They referred us to ortho doctors in our area but no one would see him due to never seeing a case before. We were then referred to Texas Children's Hospital in Houston, where again no luck with any doctors having seen a case. They did try to help with pain management and suggestions, but nothing has helped him. Lorenzo's pain has continued on a daily basis, increasing when he is active. He is into all sports and still continues to participate in them. He has shown so much strength during this time and dealing with it all. He is a true inspiration to me. We are now getting ready for a trip to St. Louis, Mo to see Dr. Michael Whyte / Metabolic Bone Disease. We are hoping he can give us a better understanding of Melorheostosis and what we can do to help Lorenzo in the future. As of right now we have yet to have a physician that can help. We will be there for a week, praying that a lot of good will come out of this trip. To everyone suffering from this condition, you are all stronger than you can ever imagine. Hopefully one day we can find a treatment/cure for this. |
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| Chantal | 2016 | Burlington | Ontario | CANADA | Right hand | When I was 18 I thought I had broke my hand after close investigation and after r/o bone cancer, I saw a specialist who informed me that I had this very rare disease. I never had many symptoms other than pain and a lump on my right hand, which I still have to this very day. As I have gotten older I have had more issues and not sure if any of them are related to the disease. Such as awful chest pain, limb pain and numbness to hands and arms. All of these which occur on a regular basis, some days are worse then others but with no cure. Taking Tylenol does not touch the pain. I am concerned that I can pass this to my children and hope to god that I don't. I'm very glad to give any info of experiences that I have had with this. Please feel free to contact! Thanks! |
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| Lynne | 2016 | Gladstone | OR | USA | Right tibia, big toe and ankle | My name is Lynne Byrne and I am 57 years old. I live in Gladstone, Oregon, near Portland, Oregon. My affected area is right tibia and it has shown deformity also in the right big toe and ankle. I had only a bump of bone that was noticed about age 15. I had a biopsy at age18 and was only told it wasn't cancer. I was asymptomatic unless i hit the bone bump directly and it resulted in severe pain. During my first pregnancy at age 30 it was a knee aching pain that did not improve post partum. I went to multiple medical doctors and had no clear diagnosis. I had right knee arthroscopy at age 40 followed by physical therapy for three months. With no improvement I continued seeing medical doctors and at age 54 the department chair for orthopedics at Oregon health science center saw an updated X-ray and was the first to say it looked like Melorheostosis. At age 54 I had right knee arthroscopy with same orthopedic surgeon who did the first one, and it was followed by three months of physical therapy thee dayside week. My range of motion improved, but once the therapy stopped, the mobility decreased. I have been unable to bend my knee for about 20 years now. I have tried sleeping medication, muscle relaxants, acupuncture, a tens electrical unit, soft tissue massage, flexology, ice compresses and heating pads. Nothing relieves the pain and I wake up most nights after falling asleep about an hour later with a leg spasm and pain that lasts about two hours. I am unable to find a position or remedy or eve pressure point to allow me to fall back asleep until the two hour period of pain lessens. It is never gone, just less intense than during a spasm period. Lynne Byrne | |
| Vicky (Mother- Paola) | 2016 | Essex | England | ENGLAND | Left foot | Vicky started walking at 19th months. Initially she was occasionally toe-walking on the left. This has slowly become more consistent. She is now unable to put her left foot flat and keeps it constantly in equinus (pointed). She was initially thought to have mild cerebral palsy and a year ago was treated with Botox injection and serial casting which made her left leg very weak. Finally she was seen by an orthopaedic surgeon who diagnosed her with Melorheostosis following an x-ray of the left foot. Vicky is very active and does almost anything other children do. She loves climbing and is very good at it! At present she is wearing normal boots which have been modified with a raise and an insole by an orthotic in order to maintain her back straight when waking. She has not had surgery yet, but we are considering Achilles tendon lengthening at some point. |
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| Stan | 2016 | St Charles | MO | USA | Left hand, wrist, shoulder blade and under left arm | Age 31 – Had lumps (calcium deposits) removed from left shoulder blade and under left arm by Dr. Leo Whiteside at DePaul Hospital. No diagnosis other than calcium deposits. Needed therapy to regain use of left arm. Age 44 – Had X-rays of left hand due to a knot on right side of top joint on the pinky finger and left wrist due to a knot there. Nothing was done although melorheostosis was mentioned in the lab report. That was never explained nor did I notice it until I just reread the report when creating this. Pinky finger was bothering my golf swing. Age 50 - Had knot removed from left pinky finger (since joint was frozen) by Dr. Subbarao Polineni at DePaul Hospital. Had lots of therapy to regain joint motion but was unsuccessful. Age 57 – Went to Dr. Charles Goldfarb (Washington University Orthopedic) since knot had returned on left pinky finger. I couldn’t grip with that finger. He diagnosed melorheostosis, which was the first time I remember hearing of the disease. He said there was no cure and surgery would not help but could make it worse. Calcium deposits also returned to left shoulder blade and under left arm. Age 63 – Went to Michael Whyte (Washington University School of Medicine) since left hand was getting worse. Tried a zometa treatment. No real change. Age 64 – Tried a second zometa treatment. Still no change. Current Status: Left pinky finger is still useless with top joint frozen. Next two fingers are getting stiff in the top joint. I retired end of April 2015 (a year early) with the hope of playing lots of golf. It’s becoming hard to grip the club with my left hand. I also have a hard time making a fist with the left hand. Holding small objects in that hand (like pills) is virtually impossible. I use Hydrocodon to minimize the discomfort only when playing golf. However the left hand hurts all the time and the right hand is starting to bother me. Playing golf two days in a row is tough because the hand gets weak the second day. It will be a short retirement golfing at this rate. |
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| Savannah | 2015 | Nashville | TN | USA | Right tibia on lower leg | Formed when I was 9 and I am still living with it today. It used to make me limp because it was so painful but over time I have learned to live with the pain. It extends to the outside of my lower right leg. It hurts to the touch and without rhyme or reason it will begin throbbing and aching so bad to where walking is a challenge. I am a college athlete and struggle with pain everyday. I have found that ice and heat don’t help but rather Advil or aspirin and compression sleeves help dull the pain. |
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| Rachel | 2015 | Auckland | NEW ZEALAND | I had some odd pain in my left leg since 2010. That started after having had extreme pain in my lower back for one week. Doctors did not find a reason for any of that. In March 2014 I had for three weeks intense burning pain on my whole left side. When I then one day felt that I cannot fully rely on my left leg anymore due to numbness, and when I also noticed a hardish hump (hydropsy) behind my knee, I decided to seek for medical advise. I was referred by a generalist to the bone tumor unit at the Helsinki University Hospital. After an X-ray and MRI, I was told that I have Melorheostosis. It was visible in both condyles of the femur and in two thirds of the tibia starting from the knee. After a control visit six months later, I was told that there is no need for surgery and that in their opinion my Melo is “sleeping” (inactive). I was referred back to a primary health outpatient clinic for palliative care as needed. In the University Hospital the doctors had explained to me that Melorheostosis is a benign bone dysplasia and wished me good luck. Thanks to the Melorheostosis Association’s web site and the related FB-group I started understanding the disease in general and its many possible manifestations. For managing my moderate to intense Melo-pain I take regular painkillers and low doses of pregabalin for neuropathic pain. Occasionally I still get shooting pain which can be rather intense, but it lasts only for some seconds. It can hit also areas where no bone dysplasia has been found (like feet and hands on both sides). Currently my main problems are stiffness and shuffling in the mornings and always when getting up, slight limp and pain after physical exercise. The left ankle looks like gradually giving in (inwards). And my left foot looks bluish and is getting thinner due to muscle atrophy which has become increasingly evident during the last 12 months (foot and leg). Considering that I have continued pain and loss of muscle tone, I would not define my Melo as “sleeping.” But I am very lucky in the sense that it seems to be progressing rather slowly - which is one of those positive sides in getting old! |
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| Markku | 2015 | Helsinki | Finland | FINLAND | Both condyles of left femur and tibia (left ankle and f | ||
| Kalynn | 2015 | Phoenix | AZ | USA | Left Hand; 5th & 3rd Metacarpal Right Hand; 5th & 3rd Metacarpal | ||
| Emily ( Parents- Steve and Nicole | 2015 | 5 & 7 Right Rib and Vertebra | Diagnosed 09.11.2014 secondary to symptoms following volleyball practice. Coaches were worried about her "chest" pain and sent her to the ED. The x-ray report was initial bone carcinoma however secondary readings and a follow up MRI & CT scan ruled out carcinoma. Emily entered into Shriners Children's Hospital Research program in St. Louis, March of 2015 and has been followed by her amazing pediatrician Emman Germann, MD at Kaiser Permanente in Salem OR, and Dr. Whyte's team at Shriners. Treatment for symptoms has been very difficult. Emily does respond well to heat and at this time takes over the counter medications, however this serves more as a placebo effect, then true relief. Emily has elected to not take anything stronger for pain relief. She also uses topical essential oils and stretching to help when the pain increases. She has stretch bands and finds laying flat on her back during episodes helps. She describes her pain as intense "deep inside" pain. She also feels like she has to "burp" (which she calls hiccup because it's more lady like) right before an attack of pain. Pain episodes can last 5 mins or 5 days it just depends. Comments: She has been able to maintain her active lifestyle and plays Volleyball 2-4 days per week. She is excited to be part of NIH one day and is learning more each day on how to live with her disease. |
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| Mirko | 2015 | Sovramonte | Province of Belluno | ITALY | Both femurs; third metatarsal bone of III toe of left foot | think everything started back in 1998 when I used to play basketball and I started to feel pain in both my tibias. I underwent X-rays and I was diagnosed with tibial periostitis indeed. Then, in 2000, I started jogging, even taking part in some running races. But the pain in my shins persisted, and I noticed that if I went jogging the pain got worse, if I stopped, even just for a week, it decreased. The doctors were puzzled too by this weird periostitis that refused to get better. Nevertheless, I kept on jogging from 2000 to 2004 even if I was feeling pain in my shins. Then, a bad day early November 2004, I woke up in the morning to go jogging, and as soon as I put my socks on I felt that something was wrong, because the socks gave me a weird feeling when touching my skin (I felt my skin slightly more sensitive than usual). Then, when I put my shoes on, the feeling got even weirder. Then I started to feel pain in one of my calf muscles, that before I had never felt, so that I had to reduce the length of my race training, until May 2005, when I definitely stopped running, because it hurt really a lot. Over time that feeling of hypersensitivity in my feet was growing stronger and I couldn’t under stand what was happening to me, so I started to worry a lot. I underwent more X-rays but they found nothing but the usual periostitis in both my shins, and nothing else. Then, in March 2006 my feet began to gave me a sensation of burning and intense heat (I think that is due to bad circulation): initially I noticed this happening once a month, then this burning and heat feeling in my feet showed up more and more frequently, until I could feel it every day. Finally in September 2006, at the hospital in Feltre (a city 20 kilometers far from where I live), a doctor, instead of doing the usual X-rays in my shins, decided that I had to undergo CT scans of both my femurs; so I had the diagnosis: Melorheostosis to both my femurs and to the third metatarsal bone of the third toe of my left foot. They told me to go to Rizzoli hospital in Bologna (a bone diseases specialized hospital) to have my diagnosis confirmed, and so it was in November 30th, 2006. They told me that the disease was not going to heal at all, that it was going to progress slowly, it was probably going to stabilise and that there was no cure (only anti-inflammatory painkillers when I felt more pain, but I took those only for a little while because I was 25 and I didn’t want to ruin my liver, kidneys and stomach). Over time my feet, besides the burning and heat sensation, started to swell (I think that is due to bad circulation too) and I was feeling worse and worse when I put socks and shoes on: since March 2007 I have not worn shoes. Since March 2008 I have not worn socks too, so from that moment on I only wear plastic slippers. I only wear slippers when I go outside, when I’m home I walk barefoot to find a little relief on the cold floor. In April 2008 I was hospitalized for a week by a head physician in Pavia, where I underwent X-rays to see if had Melorheostosis in other areas of my body, with negative result. I had a blood test too, which showed that alkaline phosphatase had wrong values. When I came back home they told me to try a drug called Etidon (biphosphonate) for three months, telling me they had cured 5 other people that had Melorheostosis, with good results. I did as they told me but after three months I couldn’t see any improvement, so I decided to stop taking it. In October 2008 I was visited by another doctor (a specialist in rare diseases) in Bergamo, who took a sample of my blood and sent it to a laboratory in Chemnitz, Germany, to verify the verify the origin of my Melorheostosis case. The result was that my case is Melorheostosis of immunological origin, in other words my immune system produces two types of interleukins (IL 2 and IL 6) in a wrong way, and that seems to be the cause of my disease. The doctor told me then to try a cytokine-based cytoplasmic therapy (which was produced for me at the Chemnitz laboratory, in Germany) : I did two cycles, in April 2009 and then in May 2010, even if they gave poor results. In late December 2011 I met again this doctor in Milan, where he advised me to undergo a cycle of an embryonic stem cells therapy, programmed for bones, muscles and circulatory system (this therapy too was to be produced in Chemnitz). So, in March 2012 I started a stem cells therapy cycle which lasted until mid-July 2012. This therapy brought some improvement indeed, because flushing, burning and swelling in my feet decreased considerably, but hypersensitivity is the same as before. At least, since then I started to put on again the slippers when at home, even if without socks. After the stem cells therapy I lost touch with the rare disease specialist, because of some misunderstandings, so nowadays I’m not followed by any doctor for Melorheostosis. Since mid-January 2012 anyway I had others quite weird symptoms: severe itching, sense of effervescence and tingling in my feet, legs and up to my buttocks, then luckily towards the end of September 2013 most of these disorders faded away (probably due to a homeopathic therapy that I followed for some months). I write here the last updates: nowadays my feet flush and swell only from time to time. Then, inexplicably, since late April 2015 my right foot has suddenly become much more sensitive than my left one (before then their hypersensitivity was quite similar), with the result that my skin is so sensitive that I feel like it is live flesh and I barely can put on my slipper (only on the right foot). Another symptom I noticed since late April 2015 is that under the fifth toe of my right foot the skin is slightly excoriated and I cannot understand why, at first I thought it was due to my gait or to the long walks I took; but now, although I have not taken any walks for many days, and although I’ve been putting every evening a calendula healing ointment, the slight excoriation doesn’t seem to heal at all (the skin is always reddened and burns a little when I walk), I really would like to know what all of this means. Anyway I would like to specify that since May 2008 I’ve been noticing weird irritations and inflammations in my toes (mostly close to the toenails), and most of the times they don’t heal at all (even if I tried putting anti-inflammatory creams on them). Besides that, in these last years some of my toes have a different sensitivity and I feel them irritated, inflamed and more sensitive than it is normal. In conclusion of my Melorheostosis history, are all of these disorders I noticed in the last 10 and more years in my legs and feet, and that come, I guess, from circulatory problems (burning, sense of effervescence, occasional swelling and reddening, high hypersensitivity especially to my feet so that I’ve not been able to put on shoes and socks for years), caused by Melorheostosis? I guess they are, because if it’s not Melorheostosis which causes all of this, I couldn’t really know what is the cause to all these weird disorders that keep ruining my life. P.S. I noticed from many reports written on your side by Melorheostosis patients that almost everybody simply complain about “pain”. But what do they mean with pain? Joint pain? Muscle pain? A pain of some other kind? Because I would like to specify that in my case joint pain is almost absent and my joints move freely, at least by now. The disorders affecting my legs and most of all my feet seem to afflict connective tissue only. |
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| Samantha | 2015 | Rochdale | Manchester | UNITED KINGDOM | 4th Metatarsal | In October 2011, I was out walking over moorland. I was descending a hill when my right leg slipped on moist marshland. My left foot however was on stone. My right leg lead my fall whilst my left foot stayed for a period on the stone resulting in a split type motion. I felt instant pain in my left ankle and knee. I was diagnosed with a fracture to the tibia post near to the joint. This was treated with a cast, but I never regained full mobility experienced acute pain. My left ankle had such reduced mobility that walking on a slight decline was impossible and the stairs were unmanageable, not to mention the pain increased. I had pain all over my inner ankle area and the underside of my foot. I had intensive physio therapy (3 sessions a week) but this did not provide increased mobility. I went back to the Doctor who referred me to an orthopeadic unit. I had countless MRI's which initially diagnosed tendinosis in the flexor hallucis longus sheath (left inner side of ankle) Initially, I was given two seperate steroid injections, the first was partially successful (short term reduction in pain) the second injection was unsuccessful. My consultant offered me the option of surgery. I accepted and the ankle was decompressed. I felt immediate benefit in the degree of mobility, however this was still not full mobility. I was also experiencing more localised pain in the underside of my foot in between the 3rd and 4th metatarsal web space. My consultant initiated further investigations as to the cause of this pain and had a working hypothesis of 'Mortons Neuroma'. This was found to be inaccurate but the MRI evidenced swelling in between the 3rd and 4th webspace. I was given a steroid injection under anathestic to treat the pain. Rather than reduce the pain, it intensified which meant that I was unable to weight bear without excruciating pain. From this point forward, I could not wear a shoe and had to wear an orthwedge which took the weight from the front of my foot and transferred it to the back. My consultant was completely dumbfounded and stated I was a mystery case. He arranged for a referral to another consultant for a 2nd opinion. Having had an X-Ray I saw the 2nd consultant who confidently diagnosed Melorheostosis in the 4th Metatarsal. I have since been further referred to professor Tony Freemont at Manchester Royal Infirmary. Like so many other stories on this website, I am struggling with the diagnosis as there's so little information known. I am 9 weeks on from diagnsosis and craving information. I have been prescribed 300mg of Gabepentin 3 times a day for the pain which doesn't even reduce the pain. The pain intensifies with excess walking/standing and also dependant on the weather. The only temporary relief I have is with a hot bath. Some days I have 3 baths a day to get some relief. I have always been fit and healthy and exercised 3-4 times a week prior to this disease. One other thing I have noticed is that my skin on the inside of my left knee changes colour. I get a 1 1/2 inch red linear band as if I have been hit with a ruler. I'm pleased I have found this Association and have taken comfort from everybody's stories. Thank you. |
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| Bret | 2015 | Moses Lake | WA | USA | Right leg | ||
| Ryan | 2015 | Fort McMurray | Alberta | CANADA | Right ankle | I always remember growing up with pain in my ankle. Naturally being an active kid, myself and my parents expected no more then a bruise or sprain. It was never a big deal. In my late teens pain and mobility only got worse. Knees started to ache and by my 20's hips were affected (keep in mind the disorder is only in my foot). At age 20 I decided to pursue the issue. My doctor started with x-rays and an orthopedic surgeon since he could not tell what he was seeing on the x-rays. On the x-ray my ankle joints that allow my foot to pivot and move left to right were all fused together. And other bones in the area were affected. After a year of blood work, MRI's and more x-rays I was officially diagnosed with Melorheostosis, 21 years old. Since no doctors knew enough, I was to told to be extra cautious till we found a specialist. I was told no physical activity, except walking and swimming. About a year and a half later I finally got a call from a sports medicine specialist who was interested in my case, bringing me to age 23. Between him and the foot specialist they decided I should get surgery to try and regain movement in my ankle and fix my walking. I am currently 3 weeks post operations. Healing is slow. I am walking though, with few limitations, stairs and driving are a challenge still. I still can't say "I'm better". It's too soon to tell if this has worked. In a week I go for a check up with the surgeon and from there he will determine when to start physical therapy and my return to work. Thank you for taking the time to read my story. It's great to have a support group. Even if it's far away! Sincerely, Ryan E Gallant |
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| Diane | 2014 | Friendswood | TX | USA | Left foot, middle toe | When I was a teenager in high school, I started noticing that I had pain whenever I bent my middle toe backwards. It was not really bad, but I noticed it. I even had a doctor say that I had broken my foot before, but did not know it. In the summer of 1997, I finally had had enough of the crooked middle toe and pain that I experienced when I stepped on something that made that toe bend backwards. It had gotten much worse. I went to a doctor and had it x-rayed. After waiting about an hour for the diagnosis, he came back in and told me that they did not know what was wrong with me. It looked like I had broken the bone, but it was healed. Upon leaving, the Radiologist came running out into the parking lot to catch me...he had discovered what it was. After giving me the diagnosis of melorheostosis, (I thought he was crazy) he sent me home with my x-rays and instructions to go see my ortho who had corrected a broken tib/fib several years earlier. Well, he confirmed the diagnosis, but would not operate on it. Told me that when I could not walk any more, come back. Ten doctors later, I found a wonderful ortho in Houston (Fondren Orthopedic Group) who looked at it and said he would fix it after he did some research on it. Lucky for me(?) I broke my ankle attached to that foot, and on my second surgery to fix the ankle, he also did a hammer toe correction on that foot. It has now been about a year and a half, and I am starting to experience more problems with it. I will visit him again soon to see where we are...I am really considering amputation of that toe... |
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| Courtney | B | 2014 | Phoenix | AZ | USA | Right hand, 5th metatarsal | I was first diagnosed with Melorheostosis January 2011 and since then the journey has not ended. In January 2012 I was placed on a donor list for a right 5th metacarpal bone. I received the news that I had a donor June 2012, however, my surgery didn't happen until mid November 2012. The reason for the transplant was due to a failed attempt of "shaving" the Melorheostosis from the bone and placing bone graphs on the first surgery, but the Melorheostosis came back with a vengeance. So, after having the transplant the cast came off in late May 2013. Six months pass and I go for my six month check up in October 2013 to see how the bone is holding up and I was given the news that the transplanted bone was fractured at the base in two spots. I was immediately put back into a cast with using a Bone Stimulater machine to help the fractures heal. As of August 21, 2014 I remain in a cast. The fractures healed, however the transplant bone has seemed to thin out. I asked my doctor what could cause this to happen and he is unsure. With lagging medical attention from my current doctor as I informed his nurse multiple times of my Vitamin D deficiency my surgery that was scheduled August 6, 2014 was halted after proof was given to my doctor of my Vitamin D deficiency. As of right now I remain in a cast as I twiddle my thumbs in wonder of what the outcome of my right hand will be. Since this journey I have lost the ability to do the things that I have enjoyed, like hitting the driving range, or the batting cages. And with being in a cast I have experienced left hand pain with constant use of it. This disease has ruined my life. I went to massage school, graduated, became licensed and was shortly ripped of my dream career all because of a disease that is unknown with no cure, prevention or treatment. There is no amount of pain pills that can help with the pain, they only lead to addiction and higher amounts of dosage being prescribed. I wish we could raise a higher awareness for this unbearable disease that more and more are being diagnosed with. With every treatment that any of us endure is merely experimental. We are not lab rats. We hurt and we don't understand why this happens. I will end with this. When I had my bone transplant, I was able to donate 3/4 of my metacarpal bone to the head research facility in Belgium. It is up to us to donate any tissue samples so we can find a treatment and maybe a cure! |
| Macon (Joe) | 2014 | Arlington | TX | USA | Hands, forearms, legs | I was raised as a US Air Force dependent. In 1954-1955 while my family was stationed at Burton Wood AFB in Britain, at age 9, I awoke in the night vomiting blood. As a result I was hospitalized at the Base Hospital for extensive tests. During the course of X-rays the melorheostosis was observed and I was referred to a large civilian hospital in Liverpool. More X-rays, examinations and research occurred at the civilian hospital in Liverpool. The medical staff at the civilian hospital was very excited. At the time I was known case 46 or 47 of melorheostosis. No treatment for this condition has ever been offered. I have never experienced any significant issues, blood problems from reduced marrow volume, or any other symptoms until recently. I have been having occasional shin cramps at night for the last 2-3 years. At the civilian hospital in Liverpool it was also observed that I had skeleton and other orthopedic imbalances. Discussion of previous medical history concluded that an illness at age 14 months was polio which caused the imbalances. The polio was undiagnosed at the time of occurrence (September of 1947). This illness was presented by very high fever, and treated by 3 days of emersion is ice water in a wash tub. As a result of the polio, my right foot is a size 6, and my left foot is a size 9. Similar disproportional metrics are present in leg length and muscular mass between both legs. I have significant tilt to my pelvis and spinal curvature as a result. I received physical therapy for the polio effects from 1957 through 1960-1961. Later back injury severely herniated L3, L4 and L5. PT and exercise, and spinal decompression have reduced those issues occasional lower back pain. Comments: I was born in July of 1946. Apparently I am very blessed. I have managed to live a rather full life with very little impediment from my physical “opportunities”. I intend to get a gene test for the deformity of the LEMD3 gene. Best Regards, Joe McGlohen Remember - Old Soldiers pray for peace. They know the alternative far better than the politicians. |
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| Mary | 2014 | Indianapolis | IN | USA | Right side of body | I was raised as a US Air Force dependent. In 1954-1955 while my family was stationed at Burton Wood AFB in Britain, at age 9, I awoke in the night vomiting blood. As a result I was hospitalized at the Base Hospital for extensive tests. During the course of X-rays the melorheostosis was observed and I was referred to a large civilian hospital in Liverpool. More X-rays, examinations and research occurred at the civilian hospital in Liverpool. The medical staff at the civilian hospital was very excited. At the time I was known case 46 or 47 of melorheostosis. No treatment for this condition has ever been offered. I have never experienced any significant issues, blood problems from reduced marrow volume, or any other symptoms until recently. I have been having occasional shin cramps at night for the last 2-3 years. At the civilian hospital in Liverpool it was also observed that I had skeleton and other orthopedic imbalances. Discussion of previous medical history concluded that an illness at age 14 months was polio which caused the imbalances. The polio was undiagnosed at the time of occurrence (September of 1947). This illness was presented by very high fever, and treated by 3 days of emersion is ice water in a wash tub. As a result of the polio, my right foot is a size 6, and my left foot is a size 9. Similar disproportional metrics are present in leg length and muscular mass between both legs. I have significant tilt to my pelvis and spinal curvature as a result. I received physical therapy for the polio effects from 1957 through 1960-1961. Later back injury severely herniated L3, L4 and L5. PT and exercise, and spinal decompression have reduced those issues occasional lower back pain. Comments: I was born in July of 1946. Apparently I am very blessed. I have managed to live a rather full life with very little impediment from my physical “opportunities”. I intend to get a gene test for the deformity of the LEMD3 gene. Best Regards, Joe McGlohen Remember - Old Soldiers pray for peace. They know the alternative far better than the politicians. |
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| Vicky | S | 2014 | Maryland | USA | Right Forearm | I was diagnosed in the summer of 2012 after my wrist was swollen and painful (after I had hit it pretty hard, didn't think it was anything, but it didn't get better months later). It turned out I had melorheostosis as well as a tumor. The tumor turned out to be benign (desmoid tumor). I had it removed (which I probably shouldn't have), then the tumor grew back bigger, in addition to the melo getting bigger. Currently I'm being followed by both surgical and medical oncologists. I'm on an "anti-estrogen" drug for the tumor and have had 3 infusions of Zometa to treat the melo and bone pain. I'm having another MRI next month to see if both things are at least stable. My X-rays are stable. But the pain is pretty much there every day. I am interested to know if anyone else has been diagnosed with a desmoid tumor near their melo disease. I'm about to try physical therapy for the pain. And really hope I don't have to try radiation or chemo for the tumor. | |
| Sherry | 2014 | Livngston | TX | USA | Left ankle and leg | My name is Sherry Stutts and I am 66 years old. On December 8, 2012, I had just finished mopping my kitchen. I was walking along the edge of the floor in house shoes when I slipped. I fell on my back and my left leg went under the dining table and my foot hit the huge pedestal in the middle of the table. Immediately my left foot and ankle began to swell. My husband wanted to take me to the emergency room. Being the nurse that I am, I opted to “wait until morning”. I elevated my foot but was miserable all night. The next morning we went to Memorial Hospital ER in Livingston, Texas. When my x-ray came back on my left ankle I was told I had a severe sprain. They applied a brace, gave me hydrocodone for pain (which I did not take), told me to keep it elevated for the next couple of days and it should be fine. Well, it did not get any better. I called and made an appointment with an orthopedist. Dr. Shaw had an x-ray made of my left ankle area. I then went back to the exam room I had been sitting in. In a few minutes the x-ray tech came in and said Dr. Shaw wanted an x-ray of my leg up to my knee. I thought nothing about it. As I was sitting in the exam room waiting for Dr. Shaw, I heard him talking to an associate in the hallway. He was telling him that he had never had a case of this (which I learned was melorheostosis) in his years of practice. He also said it was very rare and he had to look it up on his computer. The next thing I heard was his knock on my door. He sat down and began telling me about what he had seen on my x-ray. He showed me what he had researched on his computer and ran a copy off for me. He said that some forms could be malignant so he sent me for an MRI which came up negative. He sent me to physical therapy for 6 weeks. The therapist had never hear of melorheostosis either. I was an enigma! The therapy did help to strengthen my ankle some. I take Ibuprofen for the pain. I do not know if the melorheostosis is in any other of my long bones. I have arthritis and have decided to go to a rheumatologist in the next month or so to see what kind of arthritis I have. My left ankle becomes tender at times and is misshapen. I have always had leg pain. When I was little it was “growing pains”. As a young mother it was “on my feet too much”. In my older years “arthritis”. After what I have read about others who found it at a very early age, I feel blessed to have gotten to 63 before I was diagnosed with it. I live in a rural area and do not know anyone with this disease. Thanks for letting me share my story. Sherry S, | |
| Shelbi | 2014 | Benton | AR | USA | Left knee and shin bone. Left foot and three toes. Right side of face and skull base. | I found out that I had melorheostosis when I was 11 years old. I was babysitting & tripped & this huge bump came up on my foot. My parents thought I had broken it & that it was just really swollen. When we got to the ER, they did an X ray & told me they thought that's what it was. I was referred to an orthopedic surgeon who confirmed the diagnosis. I had a doctor already treating me for arteriovenous malformations of my right arm, so they got together & decided the two were connected somehow. A few years later I started having trouble seeing color out of my right eye, & had constant headaches. A CT scan showed I had bone compressing my optic nerve, which was also causing vision loss. I had neuro surgery that year & as of now, it hasn't seemed to grow back like they thought it might. They did a full body scan on me & it showed I also had it in the base of my skull & my face. And this is along with having being diagnosed with fibrous dysplasia too. Basically they explained it to me as wherever I have melorheostosis, if trauma happens there, my bones will stay that way. Well a childhood accident of a broken nose has deformed my face & I finally get to go in next month to see if they can shave the large bone bump down. The doctor said I had to wait til I was done growing before he would attempt it. So far the only pain management has been OT & hydrocodone. I was hoping that it would hurt less as I got older, but for me it seems to be much worse. Also I've had 3 surgeries removing random tumors that have been showing up on X ray, and the biopsies showed that there were pieces of bone inside of them consistent with that of melorheostosis. Hope this helps. |
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| Julie | M | 2014 | Franklin | PA | USA | Right hip down to my right foot | In 2003, when I was 33 years old, I was diagnosed with Melorheostosis in my right hip down to my right foot. I've always had problems with pain and swelling in my right hip and knee but never sought treated for it. I always thought I had fluid on my knee from jogging. When I went to the doctor, I was amazed to find out that I had this rare bone disease. I have gone through several x-rays, bone scans and blood work and 2 knee surgeries. I still do not know what exactly can be done about my pain. I was referred to a specialist but was told that there really isn't anything they could do for me. I've been living with this pain and everyday it seems to be getting worse. Does anyone have any advice or know of a doctor located in Pennsylvania that I could go and see? I can honestly say that I feel your pain. It's reassuring to know that there is someone else out there that truly understands what I am going through. |
| Gillan | M | 2014 | Derby | UNITED KINGDOM | Left Heel Bone | I was diagnosed on the 23rd of January 2014 with this condition. I have suffered with foot and ankle problems since about the age of 8 or 9. At that time doctors put it down to a strained Achilles tendon, and I had to wear a foot support for many months and avoid any sports. As I got older I had problems on and off with the same foot and most of the time lived with the pain, and only now and again getting to the point where I felt a visit to the doctor was necessary. One time I was referred for physio therapy and ultra sound therapy. After attending sessions for a number of weeks, I felt it wasn't improving so stopped going. Other treatments have included being prescribed anti inflammatory and pain killer drugs to cope with the pain and swelling. I stopped wearing heels about 8 years ago which did help alleviate some of my symptoms. In December of 2013 I went to New York for a holiday, and after walking around for my first day there, I woke up on the second day in the most excruciating pain I have ever experienced in my left foot and ankle. Seeing a doctor and having my ankle strapped up and given strong oral pain killers and topical gel to apply directly to the area I was able to save the rest of the holiday and managed to fit in the sight seeing we had planned. On the return to the UK I immediately made another appointment with my GP. I have had a large egg like swelling on the inner side of my left foot around the ankle area for about 5 years, and immediately my GP was not happy with what he saw. He said the whole mechanics of my foot was wrong, hence why I kept sustaining injuries. He prescribed rest, ice and topical gel for 2 weeks to reduce the damage I had sustained on my holiday with an appointment to go back to see him in 2 weeks time. On my return he immediately referred me to a foot and ankle specialist at the hospital. On my first hospital visit I had some X-Rays taken and my surgeon wasn't happy with what he saw in my heel bone and suspected this was a diseased bone full of little tumours. He sent me straight for an MRI scan to investigate further. I returned 2 days later for the MRI results, and it was on this visit that I was diagnosed with Melorheostosis. My heel bone is the bone that is affected, and the lump that I have had on the side of my ankle is actually bone growth. Also my heel bone has grown extra bone towards my Achilles tendon and was actually pushing on it. My surgeon said it was only a matter of time before my Achilles tendon was popped off, so we agreed for me to have surgery to remove the excess bone. My surgery was on the 10th of February 2014. My surgeon is very happy with how I am healing, and I am currently waiting for the wound to completely heal, and then I going to be seeing a physio therapist. I have also had wrist problems all my life, and did ask for these to be looked at. The X-Rays for my wrist did come back clear, so hopefully my heel is my only affected bone Comments Sorry I have rambled on a bit. Part of me feels relieved to finally have a diagnosis after suffering for years with pain. I know my surgery will not help me fully on the pain front, but at least now we kind of know what we are dealing with. Please add me to the UK map. |
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| Justin | G | 2014 | Jackson | MS | USA | Left Foot | I started feeling pain in my left foot under the ankle bone. The pain started the middle of 2005. The first time I saw a doctor for my foot, he told me to do physical therapy and take Motrin for the swelling and pain. I didn't like that answer so I went to another doctor for a second opinion. That doctor had me take several x-rays and found that there was definitely something weird. I was referred to an Orthopedic Surgeon. I was then told it was a bone lesion and a torn perennial tendon. I had surgery in Dec., 2005 to remove it and repair the tendon. It did relieve the pain for about 2 1/2 years. The bone eventually grew back but this time even bigger and caused even more discomfort. I was then referred to a podiatrist. After many x-rays, MRI, bone scans, and CT scans, I was then diagnosed with Melorheostosis and a torn tendon and arthritis in the middle joints of my foot. I was told I can have surgery again but it might not alleviate the pain and it might grow back and be even more painful. I'm unable to stand for long periods of time without feeling a lot of pressure on the front of my foot and |
| Paul | R | 2013 | Merthyr Tydfil | South Whales | UNITED KINGDOM | third finger left hand and small finger | As a teenager I can remember being able to clench fingers on both hands but began to notice that my third finger left hand was not closing down as far as the others. This situation progressed until I could only get my finger half way down and it would quite often lock. My career as a Hairdresser has never been affected to a great extent as I am right handed and hold the hair between my first and second fingers of my left hand. During the late 60s, early seventies one of my clients was the consultant radiologist at our local Hospital. While I was cutting his hair, he noticed that my finger was larger than the others (much more so now). He asked if I would mind attending my local hospital for a series of x-rays on all other parts of my body including my finger. The thickening of the bone was only present in my finger and I can't remember any other diagnosis other than maybe bone displacement; I don't think Melorheostosis was a term that he used. Later, perhaps in the late 90s, I went to an Orthopedic clinic and saw a consultant who again asked me to have numerous x-rays and came to the same conclusion with the only remedy being amputation which I considered to be unnecessary. Then in May this year (2013) I saw another local consultant who explained to me that it was indeed Melorheostosis, or candle bone disorder, this terminology very apt when we look at the x-rays. I have three children, 14, 18, and 31, who show no signs of the same disorder. The four bones in my third finger from the tip to my wrist are now quite large and there is not a lot of movement although I can bend all my fingers from the knuckles to 90 degrees, i.e. horizontal. I do get some pain at times but nothing to cause undue stress. If I accidentally bump or knock it, it is very painful but I guess I've learned to keep it out of the way!! I consider myself very fortunate that it is only in both fingers and that I don't get that much pain. I have never had to take any medication. I really feel for others who have to suffer far worse symptoms of Melorheostosis than I. Please feel free to contact me via -mail |
| Sasheena | K | 2013 | Phoenix | AZ | USA | Left hand: 3rd Metacarpal and 4 carpal bones: Lunate, Hamate, Capitate, and Triquetrum | When I was 13 years old, I remember walking in a shopping mall towards where my mother worked and suddenly doubling over in pain. A pain shot its way from my left hand to my left elbow. By the time I was doubled over, the pain was gone. It hit me three or four more times and over the following 30 years I had perhaps one or two of these episodes every year. I spoke with doctors and they deemed it "Tennis Elbow." When I was 40, I started to have a lot of seasonal issues with both hands. Mostly it was an annoyance, and I thought it was the change of the weather. But when I was 42, the pain became extreme. I saw a rheumatologist, having self-diagnosed it as either Fibromyalgia (I was diagnosed with Fibromyalgia when I was 28 years old), or Rheumatoid Arthritis. The Rheumatologist did blood tests and decided that it was far more likely to be Fibromyalgia since my fingers, while feeling swollen, were not red, nor swollen. I had no indicators of serious disease. He put me on 600 mg of Gabapentin 3 times a day. Summer set in, the meds did a great job, and my right hand, while still somewhat painful, was fairly well healed. I could make a fist of my hand with only minimal pain. But my left hand continued to hurt, particularly my pinkie finger. When I saw my Rheumatologist again he was concerned by the fact that the pain was more acute on one side. I had also jammed my left middle finger against the wall shortly before that visit with my Rheumatologist. My chief complaints when I saw him was an inability to bend my left pinkie finger without serious pain, an extraordinarily painful middle finger, and the inability to bend any of my fingers into a fist. He ordered up comparative x-rays, and we continued the Gabapentin. While we waited for the results of the x-rays, I continued to try to figure out why I had the pain I had searching the internet and learning the anatomy of the hand. I could tell that I had multiple fingers with "trigger finger" but it was mild and dissipated quickly as I warmed up each morning. I could not, however, figure out why my left finger was malfunctioning so deeply. The pain came when I flexed/bent the finger, but it wasn't the flexor tendon that hurt. It was either the small muscle on the pinkie side of the hand, or the abductor tendon that hurt. But I could use both without pain. I'm still not sure if this pain is related to the Melorheostosis that I was diagnosed with. I haven't read of anyone having a similar issue with the side of the finger hurting, and the fact that I can't find it leads me to believe that it is the Melo in my wrist causing difficulties in my hand. I also have all of the signs of Carpal Tunnel Syndrome in my left hand. The radiologist was concerned by my x-rays and ordered a CT scan for my left hand. His diagnosis was either Melorheostosis, or Myositis Ossificans (bone/calcium deposits in soft tissues). He stated that Melorheostosis was considered highly unlikely. The CT scan shows that two thirds of my third metacarpal bone had the typical flowing wax melorheostosis, and there was significant multifocal sclerotic lesions most typical of a "type of Melorheostosis." The actual words of the CT Report from September 7, 2013, were: Findings: There is presence of Multi-Focal Abnormal Sclerotic Lesions involving several of the carpal bones as well as the third metacarpal. There is very dense sclerosis of the Capitate along the Volar Cortex with a slightly exophytic component. Similar findings involving the Lunate with similar smaller lesions involving the Triquetrum and Hamate. There is dense, Solid, intramedullary, cortical, and periosteal sclerotic bone changes involving the third metacarpal shaft and base. Overall the findings are suggestive of a form of Melorheostosis. A further CT scan of my left forearm and elbow; as well as my pelvic region (a zone of serious pain for me) showed no further sclerotic lesions. I haven't yet stopped by my doctor's office for a copy. The images attached include the simple X-Ray of my left and right hand (for comparison)... One view of the right hand, three of the left. In addition some of the snaps from the CT scan: Also a small AVI film of the entire finger-tip to wrist CT scan. |
| Jennifer | 2013 | MA | Right leg and foot | My name is Jennifer and I am 40 years old. I grew up in Western Massachusetts. I personally became aware I had Melorheostosis when I was in Radiography school, at 29 years old. I then went back to my medical history and found it was diagnosed as early as 15 years old, on radiograph. I was never told. When I was 15 I slipped, twisted my leg a bit, hurt my knee, and needed to have surgery. I had lateral reticular release. My right femur on radiograph has classic “candle wax “ appearance at the proximal head traveling down to the distal end and affecting the patella as well. I have soft tissue “bumps” that are visible, slightly lighter, covering the entire posterior aspect of my upper and lower leg. Also, atrophy “deformity” of the appearance of my leg, especially right above my knee on lateral aspect of thigh, which is very painful to be touched with any pressure. My right leg is approximately 3/4 in shorter than the left, and right foot is 1/2 size larger than left. I get back pain and hip pains due to leg length difference. I get random shooting pains in my right leg in various places, mostly stabbing pain in my right hip. I have a lot of stiffness and dull pain in this leg. I usually limp for a few steps whenever I get up to walk. Not a single doctor I have ever mentioned this to, has ever heard of it. Not any PCP, Homeopath, Dermatologists, Orthopedic, Nephrologist, and many others through the years. My symptoms have been manageable thus far. I haven’t had to seek medical attention. Actually just one time, for hip pain, my PCP sent me to the orthopedic, but because he never heard of it he was not able to help. Currently, I am aware I have this. I live a very normal life. I do not know if it affects any other area of my body. I do not have any medical supervision for this condition. |
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| Ken | H | 2013 | La Harpe | IL | USA | Right hand, | I was diagnosed with Melo in 1990 while at Ft Bragg, NC. The same Ortho surgeon that removed the “bump” said it most likely came from a jammed thumb several years earlier. So, I thought it was merely a fancy name for a neglected injury. True to what the surgeon said the growth did reappear nearby in my wrist. It has become problematic for mobility and pain so the VA in Iowa City is getting ready to remove it. At the same time I am seeing a rheumatologist as I am beginning to show RA symptoms but no positives on testing, I do have erosive osteoarthritis. My rheumatologist saw the x-rays and a Ct scan ortho ordered and his curiosity about melo began. He was the one that described the disease to me and now my research trek has begun. I read on melorheostosis.org that donations of the boney matter when removed are requested but it looked like the sight has not been used much. Update: I had my surgery just one week ago so the "did it help?" verdict is still out. I will post some more as time progresses. Update: It has now been 3 weeks. The scar is healing well. Of course the nerves in my thumb are really wacky right now. I have, at this point, about the same movement that I had before the surgery in my hand but my wrist is much improved and that was one of the objectives. I still have weakness from the surgery but that should come back soon. I do not know if I have Melo anywhere beside my right hand but I am now encouraging the Doctors to see if there are other locations. Some of the other testimonies indicate, to me, that I may have other sites. I did get to donate the material and it appears Dr. Mortier has received my samples. Thanks very much to Kathleen for her help or I do not think it would have happened. I would also like to thank the VA Hospital in Iowa City where the surgery was done. Besides my rheumatologist the orthopedics department is now excited as they had part in this research. The surgeon that did the surgery was the hand specialist in orthopedics at the University of Iowa Hospital. I have been reading the testimonies and realize how fortunate I really am so far. I would be interested in helping others. I have already discovered that I have been following some of the best advise ... to keep busy, listen to your body, stretch a lot, heat, and exercise. My rheumatologist, has prescribed Naproxen and plaquenil. I seem to get some relief from this but not all the time. If you would like to please contact me via FB or email |
| Ashley | 2013 | Barrie | ON | CANADA | Left index finger | I have been just diagnosed with Melorheostosis after 2 years of doctors and specialists. It started with a volleyball injury almost 3 years ago on my wrist that found the bright spot on a bone scan. I had a full body bone scan after that and many x-rays on my hand. I had an MRI as well. Unsure what the treatment is going to be so far but I know that the finger pain comes and goes, where sometimes it doesn't hurt at all unless I press on it, and other times it hurts a lot and I can't do anything to stop the pain. My tendon feels tense and creaky when the pain is most intense. My finger is becoming bigger over time. Acetaminophen, Ibuprofen and Naproxen have not worked to help the pain. Current status - waiting for treatment and hoping for more education on this. |
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| Aaron (Parents Alejandro and Angela) | 2013 | Guaranda | ECUADOR | Arm and right hand, left leg and foot | |||
| M | M | 2013 | Portland | OR | USA | I went in to the doctor in September 2013 for a very hard nodule on my right wrist. The doctor sent me for x-rays and at that time, there was an incidental finding in the bones of my thumb. The Radiologist suggested it had the appearance of Melorheostosis and further x-rays/consultation with the orthopedic doctor confirmed. I currently have no symptoms and I am not sure if any other limbs/bones are affected. Comments: I am very perplexed by this diagnosis and am having a hard time understanding the short and long term prognosis. I understand that it is progressive, but what does that look like in an adult who is currently asymptomatic? I am also very interested in participating in any kind of research/genetic testing that may be available. (The moderator for this group may contact me if need be). |
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| Heather | 2013 | Roanoke | VA | USA | Left arm | Hi, my name is Heather and I am 29 years old. I was diagnosed with melorheostosis just this month, Dec. 2004 and I live in Roanoke, VA. The only area that is affected that I know of is my left arm. At the beginning of Nov. 2004 I noticed that the underside of my left arm was sore, near my elbow, but I knew that I did not injure it. When I looked at it I realized that there was a large lump there. I don't know how long this had been there but now it was hurting. I went to my family doctor to get a flu shot and showed them my arm so they took an x-ray. They could definitely tell that something was there and that there was a smaller lump near my wrist, but they didn't know what it was so they referred me to an orthopedic doctor. My family doctor thought that it might be a cyst since I have had several that have had to be removed, from my stomach(2), face, and left finger. So the orthopedic doctor sent me for an MRI and a CT Scan. He told me that they thought it was either a tumor or melorheostosis and that I would have to have surgery. He said that no one in my area does this kind of surgery and that I would have to go to the University of Virginia in Charlottesville, VA or to North Carolina. I went to see an orthopedic doctor at UVA and they confirmed that it was melorheostosis and that I would need to decide if I wanted to have surgery or not. In just the month and a half that it has been hurting, the pain has gotten much worse. At first it only hurt if I rested my arm on something, like a tabletop. But now it hurts every day even if it is not touching anything and it is making my elbow hurt. I am scheduled to have surgery in Jan. to shave the bone down. I don't know what else to do. I don't want to have to rely on pain medicine and I don't know how much worse the pain is going to get. The doctor at UVA said you just can never tell what it is going to do. He also said that the radiologist said that there would be no point in doing a total body bone scan because they only treat the lumps as they cause problems so I do not know if it is anywhere else. I have to wonder if it is though because as I child I would always complain about my legs hurting. I would be in so much pain that I was in tears and wouldn't want to move around. I also had a "cyst" removed from the base of my left middle finger several years ago and this is the same arm. Plus, I have had carpel tunnel surgery on both hands. Any information would be much appreciated, all of this is new to me. I hate to think that surgery would make it worse but I don't want to depend on meds either. It's like a gamble either way. Does anyone know if there are doctors's that specialize in only this? Are they working on trying to find out more info about this disease? My doctor said that this is not something that I can pass on to my children but my oldest son, age 6, is now having the kind of leg pains that I had as a child. |
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| Lourdes | D | 2013 | PUERTO RICO | Right Knee | Untreated because no MD in my country knows about the disease. Diagnosed by a friend (neuroradiologist) since 2005. |
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| Carl | 2013 | Clarksville | TN | USA | Left 8th rib in back | ||
| Angela | P | 2013 | Dragasani | Valcea | ROMANIA | Left fibula | Hi. My name is Angela P. I am 46 years old woman, from Dragasani-Valcea, Romania, and I am sick of left fibula melorheostosis, since November, 2012. I was accidentally X-ray diagnosed and, after surgical fibulectomy (third medium), the histopathological results confirmed diagnosis. All of this happened in the orthopedics department of Emergency Hospital Floreasca, Bucharest. Currently I am in a process of recovery and I am happy to find about you. My mail address is apirscoveanu@gmail.com and I am looking forward to your reply. |
| Beth | B | 2013 | Albany | GA | USA | Right ankle | My name is Beth Brown, a 57 year old woman, diagnosed with melorheostosis in my right ankle in Nov. 2012 following over 7 years of pain and discomfort, multiple doctors, physical therapy, etc. I am losing range of motion. I experience a variety of pain from throbbing to stabbing. I have to be careful where I walk and what kind of shoes I wear as any wobble can result in extreme pain. I frequently wake in the middle of the night as a result of pain. I am self medicating with naproxin, aspercreme, and hot soaks. I live in Albany, GA, a rural area in south Georgia. Following diagnosis, my local doctor said: "It wouldn't hurt my feelings if you saw someone else." So, I have been referred to the unknown. I have done as much research as I can but need to talk to a doctor with some experience managing this disease/disorder. I do not live near any of the doctors listed on the melorheostosis website and am wondering what my options are for seeing someone with some experience. I am open to discussion and recommendations. |
| Ruth | Z | 2013 | Fullerton | CA | USA | Left ulna, left wrist, 2dary left fingers 3,4,5 | Accidentally identified during an physical exam to clear me for clinical work as an occupational therapy student in my early 20s. Ran full body long bone x-rays, but only left ulna showed signs. At the time they said it was a rare condition (we found it in Shand's Orthopedic Surgery) with no real treatment or prognosis. I have never received any treatment, surgery or medications, nor asked for consultations. Little progress of the problem in the last 45+ years, but constant change--sometimes the "drippings" stretch the nerves/muscles and are painful and other times benign. Usually painful only with activity or bumping arm. Now it seems to have moved to the wrist and that swelling is limiting finger motion and is quite uncomfortable. I'm waiting to see what happens, not eager to consider wrist surgery at my age unless it gets very painful or functionally limiting. |
| Britni (Parents- Carolyn) | 2013 | Dartmouth | NS | CANADA | Right foot and leg | I was two when I was diagnosed at the Halifax IWK. My parents and I were at the grocery store and I was complaining that my foot hurt and when my parents looked at my foot, my big toe was hard, swollen and hard to move. My foot was always the problem; my leg never bothered me. I got send to orthopaedics at the IWK. I had the same orthopaedic doctor for 4-6 years; he was only going to look at surgery as a last choice. I went for x-rays of my foot and leg every six months, as well as a CAT scan and an MRI to assure that it wasn’t spreading to my shin. I went to physiotherapy every week for many years; my physiotherapist noticed that my plantar fascia was tense and was causing a great deal of pain. They tried different exercise to loosen the tendons and try to improve movement in my big toe, acupuncture, hot wax and message. Nothing really helped; surgery was then looked at. I had my first surgery in April 2006 when I was in grade 6. They cut the plantar fascia to try to improve movement and reduce pain; it worked for a period of time but the tendon tensed back up and movement became difficult again. Shortly after this surgery my original orthopedic specialist left the IWK and I was assigned to a new specialist in the department. He looked at surgery right away; he felt it was the only option we had. My next and last surgery was in August 2008 when I was about to start grade 8. The surgery was much more extensive and painful then the first. He cut tendons in both the top and bottom of my foot as well as took slivers of bone out of my big toe to try to improve movement. This was a very painful surgery and did not help or change anything. I am now in grade 11; my toe still does not have very good movement, my plantar fascia is still tense and there is still pain in both my toe and foot. I am no longer allowed to go to the IWK as far as I know because I am now too old so as of the moment I have no specific doctor that my parents and I are aware of. |
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| Tracy | K | 2013 | Terrace | British Columbia | CANADA | Left fibula | |
| Donna | N | 2012 | Cary | NC | USA | Right leg foot and shoulder | After reading some other stories, I can't help but notice how similar each story was with another. I grew up in Florida and it was a grandmother that noticed one leg shorter than the other. I was active in horseback riding and gymnastics, but noticed that certain gymnastic moves were easy in one direction while in the other direction they were hampered and not easily accomplished. With every fall or injury, pain would increase and last for quite a long time. The pain accompanied with the physical appearance that my grandmother noticed prompted my mother to take me to a doctor. At that time it was discovered that I had scoliosis and leg length discrepancies. I wore a "Milwaukee" body brace for two years in high school to straighten the bones, but was told to endure the pain that is usually coupled with the spinal curve. For years the doctors thought that the spinal curve was a result of a bad polio vaccine. Years later around 1985 I went to my family physician for extreme pain and discomfort in the right thigh and leg. He x-rayed and told me that it appears to be tumors up and down my leg and that my leg might be amputated. He sent me to Duke University where I was finally diagnosed with Melo. At this time there was no Association and doctors had very little to no knowledge of the disease. Thank you to the Association for the work you have done for those people that need answers and help. I wanted to add that after all these years I noticed that the bone grows faster after it has been traumatized or injured for me. I don't know how many others have noticed this too. It is almost as if it over compensates for injury. If I keep my weight down and exercise by walking regularly, the pain in my leg doesn't seem as bad or uncomfortable. My pain, I believe, is coming from pinched nerves and not so much the actual growth. |
| Amit | J | 2012 | Shanghai | PR | CHINA | Radius bone on left hand | Notice first bone disorder at the age of 15, no pain, discomfort or symptoms but can feel the swelling part of the bone. At the age of 20 consulted orthopedic doctor to know exactly what is this problem. Since there was no pain and no other symptoms on any other part of the body he suggested to keep a watch on growth. Recently I again consulted orthopedic doctors and after taking x-ray and CT scan, he inform me that this is "Melorheostosis." I personally feel that there is slight growth in swelling of bone, but doctor has asked to me to keep a watch and keep checking it every year about changes. Doctor has not suggested any treatment since there is no pain or discomfort. |
| Karen | M | 2012 | Cambridge | ENGLAND | Left foot and ankle | I broke my shin bone when I was 4yrs old, the hospital took x-rays and that was that. All through school my foot always went stiff when I tried to run but thought nothing of it, then when I was about 11 my middle toe of my left foot started to go behind my 2nd toe so I had an op to straighten it, while they were going through my notes a surgeon noticed the old x-ray from when I was 4yrs old and said from the x-rays I had Melorheostosis, which he said was very rare, but he didn’t know much about it but it may of caused my toe going under. As time went on I noticed I couldn’t walk as far as others as my foot felt like it would swell up, then under my foot started to hollow out and I could actually put my finger in the hole under the middle of my foot. The surgeon said if I didn’t have an operation I would be in a wheelchair in 10yrs, so I had the op to pull down the tendons and I had to learn to walk again as it was difficult to put weight on it. It eased it but didn’t cure it, as time has gone on it has got so much worse, I cant walk far without it swelling up and being painful. Even if I sit I get shooting pains in my foot. I now have to drive an automatic car as it got too painful to drive a manual, and it affects my job. I am currently waiting for an MRI to see what’s happening to my foot but the surgeon didn’t seem to have a clue what Melorheostosis was and he already said he didn’t think there was anything they could do. Can anybody tell me if they are registered as disabled with this disease? |
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| Kelsey | 2012 | Anchorage | Alaska | Right foot, equivalent to the "ring finger" area, in between the knuckle and ankle | Symptoms: aching and restlessness, tingling occasionally, uncomfortable to drive my car because pushing on the breaks is tender to my foot. I was diagnosed in June of 2012. I went to my foot doctor because I could tell something was wrong with my foot since it looked like I had a bunion. So I had to get X-rays and that's when we saw it. My doctor was like WOW I have never seen that before! At the time I was not in pain and had only been feeling pain off & on in my bunion so my doctor gave me the impression "if it ain't broke don't fix it" attitude. I was treated and diagnosed with bunions on both feet (my right being worse than my left) and planter fasciitis, and discovered the melo by accident. For treatment I got an over the counter orthotic which has helped a lot, but now I have no shoes that fit. I'm stuck wearing ugly crocs. For about 10 days this worked but then I broke down and went back for a custom fit orthotic. I still have some pain from the planter fasciitis and very little in my bunion, but now my area of foot in the region of my melo, I've been noticing quite a bit of aching and weird uncomfortableness. I don't like using the word pain because I've given birth (with drugs) but regardless of that, it was still painful and I feel like a pussy by talking about pain in my foot after experiencing birth. I notice my foot bothering me more when it's cold outside and on rainy/cloudy days. So far I have not gone back to my doctor to seek further treatment for my foot. Money is tight so I guess I plan to ignore it for now, (On a side note, I also have been treating my mental health issues for 10 + years so my psych doc visits and therapy are kinda my priority right now, that stuff I just can't ignore and function like I can with my foot.) Oh and my custom orthotic is finally ready to pick up, but my insurance has not paid their portion so I can't take it until its paid. I am just hanging tough for now. |
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| Quincy (Parents Ballard and Tanda | S | 2012 | Battle Creek | IA | USA | Ankle joint has been unable to extend since birth. Never got better so we took her to a orthopedic surgeon at Children's Hospital in Omaha. X-rays show what looked to be a fracture that was healing. We went back every 6 months for checkups never getting anywhere. One and a half years later after demanding answers many other doctors looked at the X-rays and they diagnosed it looked like melo. We were referred to University of Iowa. No one that we have seen regarding this knows anything about it and has no answers for us. We will soon reach out to the Mayo clinic in Minn. They have no other suggestions as to what it is other than melo. We have to go see a Geneticist. | |
| Rinus | 2012 | Rotterdam in Nederland | HOLLAND | Hand | Ik ben voor het eerst naar het ziekenhuis geweest in 1985. De professor stelde direct de juiste diagnose. Ik het ziekenhuis zijn röntgen foto,s gemaakt en foto,s waarvoor ik met een nucleaire injectie beter zicht moest geven op de foto,s Er is toen geen verdere behandeling gedaan. 10 jaar later in een ander ziekenhuis: Omdat ik steeds meer last kreeg en mijn pink bijna niet kon buigen ben ik weer naar het ziekenhuis gegaan. Zij konden niet ontdekken wat ik had en dus gaf ik de brief van de professor. Als gevolg van de behandeling, voorgeschreven door de orthopeed, met fysiotherapie kreeg ik nog veel meer pijn en ben ik na 5 behandelingen gestopt. Nu in 2012 kan ik mijn pink helemaal niet meer buigen en heb ik altijd wel pijn wat draaglijk is. Inmiddels ben ik met pensioen en vind ik het wel goed zo. Sorry dat ik de brief niet in het engels schrijf. Ik kan een klein beetje engels lezen maar niet spreken en schrijven. |
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| Lynette | 2012 | AUSTRALIA | Hands and right side of body | adult diagnosed at 16 at RPA Hospital, Sydney, Australia. Had symptoms from earlier than 1 year old. Affected in both hands, with ring finger on right hand deformed, with muscle loss in right arm and back, right leg and foot. The whole right hand side of body is shorter than the left. When newly born, no problem appeared to be there. One doctor thought the shorter right side was as a result of a mild case of polio. Second person diagnosed in Australia in 1962. Although both carpal tunnels have been surgically treated, the left ankle fused and spinal surgery for a cyst on the spinal chord, none of this was considered to be treatment for melorheostosis. The right ankle fused itself. I am sending this on behalf of my sister, with her permission. |
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| Rosemary | C | 2012 | Melbourne | Victoria | AUSTRALIA | Left ankle | I had a left ankle x-ray 20th January 2012 which identified melorheostosis. The report says, Longitudinal ridge of sclerosis within the distal tibia along its anterior medial aspect with candle wax type pattern, typical of melorheostosis. I was born in Belfast Northern Ireland and am currently living Melbourne Victoria Australia. I have not had any symptoms apart from a slight feeling of tightness in that area. I have always felt I have a very slight shortening in that limb. I have had no treatment. I have a referral to see Mr Mark Blackney a Melbourne Australia orthopaedic specialist. The referral is in relation to an old ankle injury where a bone has been chipped. I may have an arthroscopy & he may be interested in doing a biopsy of the melo. If he does a biopsy I would be interested to donate tissue. However I will need to be reassured that biopsy of the thing will not lead to adverse consequences!!! However my appointment is not until the 3rd of December 2012 such is the backlog of this particular surgeon. My referring doctor is Dr Tracey Peters Lifecare Malvern, 91 Wattletree Rd Armadale Victoria 3143. +61395098844 Fax +61395096244 If you need more information I will be happy to provide what I can. |
| Tracy | 2012 | MN | USA | Left and right arms and hands | I first visited the Shriners Hospital when I was an infant. My left arm is smaller than my right, and my fingers are crooked. I was fitted with braces for my hands to wear at night and my parents did a PT routine at home. I was diagnosed with Melorheostosis when I was around 5. At 5 years old they cut the ligaments in my fingers, and placed pins in them in an attempt to straighten them. My left pointer finger straightened out, my right ring finger became more bent down and to the left- all the rest of my fingers returned to how they were in the beginning. I was fitted with new arm braces each year (to wear at night) and did PT at home and in school. In my early teens they cut my left humerus, turned it, and placed a plate with four screws in my arm. This was done because I previously could get my arm far behind my back but we determined it would be more useful to get it more flat towards my face. The plate was later removed. Around age 15 we met with a Doctor at the University of Minnesota, he discussed some bone lengthening procedures which we opted out of. He basically told us it wasn’t genetic, and wasn’t going to get worse or better. That was the last I really thought about Melorheostosis until recently. I was out of school and over 18- there was never any follow-up from any doctors or PT from school. I began researching on my own- found out it is progressive and can be very painful. I have a dull achy pain when I work on something too long, a sharp pain occasionally, and a tingly feeling that happens quite frequently- but that’s it. My hands look about the same, in proportion to my body, as they did when I was younger. I met with Dr. Moran at the Mayo Clinic in Rochester today. He confirmed without a doubt that it was Melo. He was concerned with some carpal tunnel in my left wrist especially. He also said there were some early signs of arthritis. I am going back in a month to get an EMG done, and possible surgery on my wrist. I’m scared for what the future might bring; it’s hard knowing that there is nothing I can do about the progression. I’ve gotten used to doing everything with my hands the way they are, and I’m not ready to be done yet. |
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| Julie | 2012 | Sioux Falls | SD | USA | Right clavicle | Diagnosed in February 2012, have had bump on clavicle for a long time but only recently started having numbness, tingling, tension headaches and neck aches. Went to chiropractor, referred to orthopedic surgeon, then referred to orthopedic surgeon at Mayo clinic in Rodchester, MN. Bone is starting to press on brachial plexus nerve. Will start physical therapy and massage. No surgery recommended yet. |
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| Robert | 2012 | MD | USA | Left foot lower leg | I noticed my left foot was shorter than my right foot when I was probably about 10. My parents and the crackpot navy doctor didn't think it was anything unusual. I was finally diagnosed at age 16 by my orthopedic. I had an orthotic made for my shoe but surgery was put off until I was older. At 25, I could no longer run. Melo affected the growth of my ankle and I was prone to rolling it. I had my outer tendon shortened, my Achilles lengthened, and my heel literally cut off and reset to the outside to allow more stability. I can now run which is great! For now, I try to manage the pain and swelling the best I can with medical marijuana. I can feel the effect Melo has on me everyday. Good luck to everyone out there dealing! | ||
| Darlene | 2012 | Port St Lucie | FL | USA | left tibia, femur, knee | My name is Darlene Pry. I’m 54 years old. Today I learned that I have Melorheotosis. I was first told that something wrong when I was 14 years old. I have been monitoring this condition over the years with x-rays, but was never given a name for it until today. It’s a great feeling to finally know what I have. Even though I’ve learned there isn’t a cure, I’m glad to finally know there is a name for it. I live in Port St. Lucie, FL and traveled to Gainesville, FL to finally get a diagnosis. I saw Dr. Scarborough who is an orthopedic oncologist. In the past I have been seen by orthopedic doctors but was never told what this is. They would say that’s it’s unusual looking and to just have x-rays done every so often to make sure that it was not getting worse. The Melorheotosis is in my tibia and femur of my left leg affecting my knee. When I was younger I was discouraged from participating in any physical activities that would cause any more pain than just from normal use. This has pretty much been a way of life. If my leg is straight for a long period of time my knee bothers me. If my leg is bent for too long, it bothers me. The only medications that have been recommended are anti-inflammatory. I’ve had a full body scan and thankfully my left knee is the only area affected. Being “one in a million” has made it difficult over the past 40 years to relate this condition with anyone else. Thank you for this website and learning that I am not alone. | |
| Donald (Parents Ronan and Niamh) | 2012 | Dublin | IRELAND | Right foot | Donal was diagnosed with Melorheostosis in his right foot in May 2010 at 3 years of age. Donal was unable to put his heel down and has walked on his toes since the age of 2. Donal has been doing physiotherapy since 2010. In January 2012 Donal got botox injections in his calf muscle with serial casting. This has not improved his foot. It is proposed to do tendon lengthening on his Achilles tendon in February 2012. We would be very grateful of any information on similar cases to Donal. | ||
| Laura | 2012 | Crystal Lake | IL | USA | Left Ring Finger/Hand | I was diagnosed with melorheostosis in my left ring finger/hand in 2010 after many misdiagnoses throughout my adolescence and early adulthood. I have obvious deformity in my finger and have had this deformity for as long as I can remember but the disease has progressed and is causing extreme pain and limited use of my hand now. My treatment history consists of two rounds of corticosteroid injections which increased the extension of my finger but the effects of the injections lasted for only approximately 6-8 months. I then had a surgery done which is typically performed on people diagnosed with “trigger finger.” The surgery alleviated some of the pain and increased my ability to use my hand/fingers but not completely. |
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| Linda | 2012 | St Louis | MO | USA | Right Foot | Linda Hess ND (Naturopath) and PE (Professional Engineer). Age of onset: Late 40's. Podiatrist: Dr. Wittock 314-842-3861 ( I haven't needed to see him in years). |
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| Judy | K | 2011 | Ashburne | VA | USA | Ring finger pinky finger on left hand | I just received the diagnosis of melorheostosis today. I have been complaining of pain in the ring finger on my left hand for several months. Prior to my diagnosis I tried several sessions of occupational therapy without success - in fact the OT seemed to make the pain worse. My doctor had never heard of melorheostosis prior to my case and we are now working together to learn more about the disease and possible treatments. |
| David | 2011 | Rochester | NY | USA | Right Upper Leg-Between the Hip and Knee | I was diagnosed in Feb .2011 by accident. Having right knee x-rayed, technician when too high on my leg and the Melorheostosis was discovered. Consulted my personal doctor who has never seen this in 28 years of practice. The only thing I notice is a bulge on the outer side of my right leg which I always thought was a muscle. Only problems at this time is a shooting pain down my leg on occasion. | |
| Kelly | 2011 | Lewsitown | ME | USA | Right hand, right ulna, right shoulder | Noticed lumps on my middle finger, on my right hand, and very tender to the touch, wasn't able to make a fist, got X-ray done due to a work injury back in 1994. A chiropractor, orthopedic, and neurologists I had, all over look these mysterious lumps showing up through the years until 2007. I had continuously questioned these lumps and not one doctor could explain what is was, even after seeing many X-rays, mri's, ct scans, etc. Then not only was it confirmed that these lumps have grown, but I found another on my ulna and I just had rotor cuff surgery on my left shoulder, and the doctor that did the surgery indicated to me that he scrapped away what he called some abnormal shaped beginning of some bone spurs, which bone spurs are a common thing found with rotor cuff issues, but this made me even more adamant about getting someone to tell me what these things growing may be. I went to my regular orthopedic specialist for a check up after my surgery and got a doctor that was filling in for him that day. He ordered another X-ray of the hand and that was the first time I heard the word melorheostosis. I questioned this with the doctor that did my shoulder surgery and after another scan, he as well as two other of his associates within his practice confirmed the same diagnosis. Now in 2011, I continued my search to find another answer and once again by an accredited orthopedic hand specialist from Brunswick, plus he referred me to an orthopedic oncology reconstruction surgeon in Bangor, Maine . I have stopped my search for another diagnosis and am accepting that I have melo ( as one says). I have been taking pain medications since 2006. I now figure it's not only for my work injuries throughout my hands, arms, elbows, shoulders and neck, but just in the past year the pain from melo in my right hand and arm have become increasingly stronger and harder to bare. The medication is helping with that to some point, as well as a topical cream, that is prescribed that does take some of the pain away. As the cold and snow starts to set in I have started to notice a lot more discomfort. I am right handed and have started to practice writing with my left hand. Due to my work injuries in 1994, I have learned to do many things with my left all ready, like brush my teeth, bathe, drive and dress. Although I still have use on my right and no one can say if I will loose complete function of my right some day, there is no fixing this or stopping it, and if the pain gets to an extreme point that surgery or amputation is my only option for a productive life I want to be ready. The one thing that I believe has allowed me to continue with this as it is limiting my ability to do things normally is I continuously try to massage, and stretch to help keep the flexibility and mobility that is decreasing every year. I have also been comforted by the heat, so like a heating pad, or a warmed rice bag. It doesn't take away all the pain and discomfort but I feel gives some relief. Good Luck to all of those that get this scary diagnosis, and thank you to this organization that is helping get the word out there about this for they have given me information to help come to terms with it. |
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| Linda | 2011 | Las Vegas | NV | USA | Right leg knees and I belive hands | I’m a 54 year old female, wife—married 37 years to the same great man, mom to one wonderful son, and employed full time at my HR job for 36 years. I was having hand and knee pain for the past year or so and had previously been told it was probably just arthritis and getting older, plus I go up and down stairs everyday multiple times at my job. The pain in my knees was getting worse as well as throughout different joints in my body and especially my hands and knees so my general practice/primary care doctor sent me for x-rays in late April 2011. The x-rays indicated that further evaluation was recommended for the right knee and more x-rays were ordered. The x-rays done in late May came back with an “abnormality” in the right distal femur, patella and right proximal tibia—indicating that findings were consistent with melorheostosis of the knee and an MRI was recommended and ordered for both knees. In early September I went for the MRI of the right knee and findings were consistent with sclerosing dysplasia and melorheostosis. Subsequent visits to two ortho doctors verified the melorheostosis diagnosis. Haven’t done the left knee yet. I’ve had x-rays in both hands in January and October of this year; diagnosis is severe osteoarthritis. I’ve looked at the x–rays that were taken and they look very similar to x-rays on-line of people with melorheostosis in the hands. I’ve not yet had a chance to go back to my primary care doctor to see if they believe the hand condition could also be related to the melorheostosis—since no one here seems to be very familiar with it and I doubt that the person who read the hand x-rays has looked at my total file to note that I have the condition in my right knee. I will be following up on this matter. Comments: I had three different doctor appointments—3 days in a row the first part of October—the first two with the ortho doctors and the third one with my primary. The frustrating part is that neither ortho doctor knew very much about melorheostosis and I was advised that it was rare and I could look it up on the internet. My primary doctor knew nothing of the condition. One ortho doctor gave me a print out of some sports medicine exercises after I asked him about whether or not exercises would be beneficial or help delay the progress of the condition. Both ortho doctors advised that OTC meds such as Advil and Aleve can be taken and to use those that seem to work the best for me, and perhaps I could also try glucosamine. Unfortunately, I didn’t have a chance to do a lot of research between these doctor visits and didn’t know what sort of questions to ask them. None of these doctors even mentioned the idea of themselves trying to contact other doctors who may be more familiar with melorheostosis and trying to get some additional information to help me. I guess if I want to do that, I’m on my own and will need to contact the doctors listed here at the Melorheostosis Association website. Thank you for having this site—it gives me some hope and a place to start looking—since I am an information freak---the more I feel I know, the better I feel, and right now, I feel pretty lost on most days! Time permitting—I will be visiting here more frequently—thank you so much! |
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| Cassandra | 2011 | Corpus Christi | TX | USA | Right ankle and top of foot to the second and third toe | I was very athletic, cheerleader, volley ball, till I had foot pain and I went to the doctor. They said they didn't know what is was, till they told me it melorheostosis. |
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| Kerry | 2011 | Hot Springs | AR | USA | Right humerus, radius, ulna, wrist, index finger and thumb | My name is Kerry A. Turner. I am a 42 year old female. I was recently diagnosed with melorheostosis in my right humerus, radius, ulna, wrist, index finger and thumb. The melorheostosis in my right humerus was found incidentally in an x-ray while being treated for shoulder tendinitis. My right index finger was diagnosed due to a sudden onset of pain, stiffness and limited mobility. My doctor prescribed anti-inflammatory medications with some relief of stiffness. | |
| Maria | 2011 | Davie | FL | USA | Left Leg | I was diagnosed with Melo when I was about 10 years old. My grandmother noticed that my right hip was higher. I was diagnosed with scoliosis. Then I was diagnosed with Rheomelestosis and or Melorheostosis. In 1960 in Cuba, I was treated by Dr. Pascow. I was under his care for 3 years. He placed pins thought my calcaneus bones and plaster both of my legs to accelerate the tibia and femur approximation, and therefore prevent linear bone growth, hence I have been the same height since I was 12 years old. When I was 14, I had a left hip biopsy and a full body cast in Caracas Venezuela, as a result I have a left posterior thigh indentation. Don't know what was the reason of the surgery. I did not seek medical care for many years since on one knew what I was talking about. I have been followed in Miami for the last 10 years by Dr. Ritter. I see him once a year. He orders X-rays to monitor the progression and prescribes NSAIDS for the pain. The x-rays show the typical wax appearance tissue ossification/calcification on the distal femur. My left leg is shorter, I have pain on the distal lateral aspect of the femur at times. Sometimes the pain is sharp and very strong. I am a very active person. I exercise daily. (I am in the Air Force Reserve) If I stop exercising my leg becomes stiff and I have difficulty getting up from a chair. Years ago when I was in George Mason University ( 1980') I did some research on this anomaly, I came across many French articles but nothing in English or written in the USA. I came to believed that I was the only person in this country afflicted with this. Therefore I stop and never looked again. Today I am having much pain I was getting scare, therefore I decided to make an appointment at Cleveland Clinic Weston. Since every time I seek medical attention, no one seems to know about it (someone once told me I had Paget's) I decided to look in Merck Medicus to take some info with me to my appointment, and, did not recognized the name. Than I decided to Goggle it and I came up with your organization. |
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| Brad | 2011 | Manning | SC | USA | Right fingers, hand, arm (further testing to see if other places) | I have had a "large knuckle" on my first finger for many years and all I have ever been told is that it is "cosmetic" and probably due to calcium build up. Recently I started having pain in my wrist and forearm so my primary doctor did an x-ray to see what was going on. The Radiologist sent back the report stating I have Melorheostosis in my finger. My primary sent me to a hand ortho doctor to confirm this. This doctor took a look at the x-ray and said, not only was it in my finger, it was also up my arm. Thus, the pain in my wrist and arm. But the x-ray only goes half way up my forearm so we need to confirm how far up the arm it goes. (I am also having pain in my shoulder, do not know if this is related or not) Unfortunately, he didn't know too much about the condition so he wants me to see another doctor who knows more about this. The bad thing is, there doesn't seem to be another doctor in the area who knows a lot about it so know I am in the search for a doctor who does. He did say he wants me to have a full body x-ray to see if it is in any other part of my body. We will see..... |
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| Mika | M | 2011 | FINLAND | Left arm and leg | My melorheostosis seems to affect most of my left side, hard to tell which parts exactly but on x-rays at least my left arm and left leg has that "candle wax" appearance. Fingers and toes are/were affected as well. I also have a bit of scoliosis type of thing and left side of neck is quite stiff, hard to lean my head to the right, if you know what I mean. In the late 80's I went through surgery, amputation of my left foot. From Wikipedia this was the closest thing I found, if it is of any help: partial foot amputation (Chopart, Lisfranc It took quite some time for doctors to diagnose me and unless things have changed in ten years or so, I'm still the only one in Finland who has melorheostosis so it would be nice to hear from other people with this thing =). Can't think of anything else to add except that news letters and info are always welcome 🙂 |
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| Ralph | 2011 | Gainsville | FL | USA | First and second rib on the right side / First joint on index finger of right hand | I was just diagnosed yesterday (8/22/2011) with Melorheostosis. It appeared in a chest x-ray for pre-op testing for another issue. I have a significant mass on my 2nd right rib and a smaller lesion on the 1st rib. Growth on index finger is frequently uncomfortable but not unbearable. Fortunately, I am not experiencing pain from rib issue at this time and am hopeful that it does not progress. Body scan did not identify any other areas impacted. Currently, we are just monitoring to see if condition progresses. No treatments have been undertaken. |
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| Melanie | 2011 | Sumter | SC | USA | Right foot | I was diagnosed with this rare bone disease this past Friday. Back in January of this year, I noticed that my ankle was swollen and it hurt. It had pitting edema in it. I worked at a doctors office at that time and I asked a nurse what she may think it was; she told me to elevate it with cold compresses; keep an eye on it. Well, it never went down and the pain was constant-dull aching pain. So, being that I'm in my thirties, and smoked in the past not to mention my blood pressure was on the high side; very peculiar to me, I had the thought of it being a problem with my heart. Ran tests & those came back normal. Finally, I went to a Podiatrist. He diagnosed me with a fractured metatarsal bone; just told me to elevate & take OTC pain meds. & wanted to see me back in 2 weeks. 2 weeks passed & no change on the x-ray. He told me to keep doing what I was doing. See me in 2 weeks. Again, 2 weeks passed & no change. So, we did this for another month or so, he took me out of work for a week to keep off of it; return visit back; no change for the better on the x ray. The beginning of June, he finally sent me to another specialist in a bigger city. That doctor, automatically put me in a boot & said he would see me back in 6 weeks. After 6 weeks of wearing the boot, the x-ray did not show anything different. That's when he said that this was not a fracture, it's Melorheostosis & Drapyseal Cortical Sclerosis. He advised me to get online to research this rare bone disease because he really could not answer any questions that I had. I am scared and curious as to what this has in store for me. I understand that it could be worse; it's the pain, crippling, deformity, and the possibility of other severe results from this disease that have me taken aback. Comments: Thanks for this web site. Hopefully, with today's modern technology, someone, somewhere will find a diagnosis or treatment for this disease. We all just have to keep the Faith!! |
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| Dipankar | 2011 | Pune | Maharashtra | INDIA | Right leg | When I was 15 years old I found that my right leg width is less as compare to left leg. At that time we consult with Dr. Hardikar (Orthopedics) as per Dr. The cause of disease was the shape of cartilage bone between knee joints. He suggested some exercise tips for daily work out. Which help me to make the leg movement properly for some time. After that we never went to doctor doctor almost 10 years. Their was no improvement during this 10 years. When I was 22 year old I found that the pain has been increase and I am not able to move my leg in natural way specially in feet. Then we went to Dr. Sancheti (Orthopedics) this is very famous hospital in Pune city. I was under Dr. Khadilkar treatment. I have done the bone scanning and different testing about blood. In Bone scan report it is easily found that the size of my right leg bone has been increase through out. Specially the feet part of right leg has been affected by the high density of the calcium which is diagnosis as Melorheostosis . Dr. Khadilkar explain about the disease and he said that there is no treatment for this diseases in the world, only pain killers can help. Since that time whenever I get pain in my right leg, it's really very painful. Due to this diseases I cannot walk straight; this affected on hip also, the size of the affected leg is less than the left leg. There is continued pain in the hip and right leg. My feet always remain swollen and the movement of the leg is not natural. |
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| Jody | C | 2011 | Raleigh | NC | USA | Left forearm | My melorheostosis was discovered on an x-ray when I broke that arm in 1995. I don't recall any pain prior to that or any pain for years thereafter. I was told it was a bone tumor and an MRI was performed. When the results came back benign, nothing else was ever said about it. I even forgot about it for a great while until 2008 when it began hurting. I went to Raleigh Orthopaedic Clinic in Garner, NC where another MRI was ordered. The results, again, were benign and I was dismissed without any explanation what-so-ever. The pain eventually subsided until about 6 months ago. I called the facility that performed the MRI to get copies of the results which indicated that I had melorheostosis. I made another appointment with Raleigh Orthopaedic Clinic to have another x-ray and a discussion with the doctor about my 2008 diagnosis. Again, no discussion about the melorheostosis was offered. When I asked what it was, the doctor's advice for me was to "Look it up on the internet." and here I am today. My arm hurts every day from the middle of my hand to my elbow. It has become difficult to lift things even as light as a cup of coffee. Some days are better than others; it is very stiff in the morning. I am a graphic designer and use a keyboard for a living and even that is presenting a problem for me. I am very fearful that my arm is getting worse and very concerned about what the future will be for me. |
| Rosana | 2011 | ARGENTINA | Left leg | My name is Rosana. I live in Argentina, and in December 2010 they diagnosed me as having melorheostosis in my left leg. After visiting many specialists they did a biopsy. I suffer from many contractures, stiffening and pain in the knee and ankle. I hope to find a treatment soon to stop this disease. | |||
| Cortney | B | 2011 | Chandler | AZ | USA | Right Hand (5th Metacarpal) | Before being diagnosed with Melorheostosis in January, 2011, I was experiencing constant, very uncomfortable pain. In August, 2010 I noticed an unusual form of growth over my knuckle in my right hand where the fifth metacarpal is. I tried to treat it myself with basic hydrotherapy, but not positive results. As days passed on, I started noticing a very sharp shooting pain in the same location. Almost like a sharp needle was being driven into my hand into my bone. The pain started to become so severe that it would even wake me up out of a dead sleep. With the cold winter, I noticed my pain became more sharp and unbearable. I even noticed that I started losing strength in my hand. I'd tell my mom that nothing would relieve the pain. In October, 2010, I saw my hand doctor, Dr. John Hanlon. He did an x-ray and noticed what appeared to be a tumor in my fifth metacarpal as well as a wide range of white matter on my bone. Due to the tumor being noticed, no treatments were done; surgery was scheduled immediately. The day of my surgery, January 17, 2011, my doctor informed me of what he saw. He described to me that my fifth metacarpal was harder than cement, something he never saw before. I was further informed that he wasn't able to completely scrape away all of the white matter, that I wouldn't have a bone left to put any bone graphs on. A week after my surgery I was diagnosed with Melorheostosis, with information that it's noncancerous, but no cure and no treatments. Since my surgery I am currently experiencing additional pain with my nerves at the affected area, which is affecting me being able to practice massage therapy. I am a very outgoing person who plays golf and other sports. I am still unable to live a normal life with my hand. |
| Kenneth | W | 2011 | New Bedford | MA | USA | Right side outer wrist, including pinky and ring finger | For 40 or so years I had been trying to get somebody to remove my pinky finger (it is curled into my palm and has very little mobility). Thank someone, I am at least left handed. My problem is I am a welder/fabricator and I use my hands to make my living. With the right small finger curling into my palm, as you can imagine, I either bang it all the time or it just gets in my way. Sometimes the pain is incredible. I looked around my area to find someone who could help me figure out what was going on. Need I say, there was no help until I was finally referred to a Dr. Jesse Jupiter out of Mass General Hospital in Boston. Until that time my wrist was losing mobility and work was painful. After consulting Dr. Jupiter, a biopsy was taken. He removed two small bones from my wrist which has resulted in far greater mobility. Well long story short, I'm happy to finally put a name to this disease and have found out a wealth of information on this website. And I thank everybody whose history I have read and have learned a lot from. |
| Susan | 2011 | Edinburgh | SCOTLAND | Right hand and wrist | Diagnosed in 2008 after years of pain and lack of mobility in my right hand (in particular my middle finger which is noticeably deformed) I went to see my GP who sent me for x-rays. After these were sent back to her, she was still unsure of what it was so she referred me to a rheumatology specialist, who was also baffled as to the exact diagnosis. After researching the condition, she got in touch with Prof. Wordsworth who diagnosed Melorheostosis. | ||
| Jessica | 2011 | Marysville | OH | USA | Femur Bone | I just learned today I have this condition. I have a thickening, or tumor in/on my bone. They say it is nothing to worry about, they thought it was a benign tumor then this is what they have came up with? I am to have x-rays again done in 6 months. I was having knee issues and they did an x-ray, that is when they found this. I really haven't had any issues, except I have always noticed pain when someone pushes against me there.... Other than that I seem healthy enough. The dr. said to fix this problem they would have to take my femur so we are not doing anything at this time. Thank you Jessica |
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| Annette | 2011 | Bothwell | WA | USA | Right tibia | Back in 2000 I had a large mass removed from my right knee area. I had always had pain in that leg since I was a child and assumed now that it was from the tumor. The doctors were unable to diagnose a cause for that tumor. In December of 2010 I found another lump behind my right knee and after a trip to the orthopedic surgeon and many scans I was diagnosed with another tumor and Melorheostosis. I will be having the mass removed next week, but was told by my doctor that if he did anything to the bone it would ruin it so I will just have to manage the pain and get annual scans to watch for more tumor growths. I also have Crohn’s disease but my doctor says the there is no relationship between the two diseases. Just got lucky I guess to be diagnosed with two painful diseases! Comments Because of my Crohn’s disease I am unable to take anti-inflamatories, but do rely on Tylenol to help me sleep at night when the pain is always worse. |
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| Heather | 2004 | Roanake | VA | USA | Left arm | Hi, my name is Heather and I am 29 years old. I was diagnosed with melorheostosis just this month, Dec. 2004 and I live in Roanoke, VA. The only area that is affected that I know of is my left arm. At the beginning of Nov. 2004 I noticed that the underside of my left arm was sore, near my elbow, but I knew that I did not injure it. When I looked at it I realized that there was a large lump there. I don't know how long this had been there but now it was hurting. I went to my family doctor to get a flu shot and showed them my arm so they took an x-ray. They could definitely tell that something was there and that there was a smaller lump near my wrist, but they didn't know what it was so they referred me to an orthopedic doctor. My family doctor thought that it might be a cyst since I have had several that have had to be removed, from my stomach(2), face, and left finger. So the orthopedic doctor sent me for an MRI and a CT Scan. He told me that they thought it was either a tumor or melorheostosis and that I would have to have surgery. He said that no one in my area does this kind of surgery and that I would have to go to the University of Virginia in Charlottesville, VA or to North Carolina. I went to see an orthopedic doctor at UVA and they confirmed that it was melorheostosis and that I would need to decide if I wanted to have surgery or not. In just the month and a half that it has been hurting, the pain has gotten much worse. At first it only hurt if I rested my arm on something, like a tabletop. But now it hurts every day even if it is not touching anything and it is making my elbow hurt. I am scheduled to have surgery in Jan. to shave the bone down. I don't know what else to do. I don't want to have to rely on pain medicine and I don't know how much worse the pain is going to get. The doctor at UVA said you just can never tell what it is going to do. He also said that the radiologist said that there would be no point in doing a total body bone scan because they only treat the lumps as they cause problems so I do not know if it is anywhere else. I have to wonder if it is though because as I child I would always complain about my legs hurting. I would be in so much pain that I was in tears and wouldn't want to move around. I also had a "cyst" removed from the base of my left middle finger several years ago and this is the same arm. Plus, I have had carpel tunnel surgery on both hands. Any information would be much appreciated, all of this is new to me. I hate to think that surgery would make it worse but I don't want to depend on meds either. It's like a gamble either way. Does anyone know if there are doctors's that specialize in only this? Are they working on trying to find out more info about this disease? My doctor said that this is not something that I can pass on to my children but my oldest son, age 6, is now having the kind of leg pains that I had as a child. |
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| Michelle | D | 2004 | Lafayette | LA | USA | Left forarm and upper arm | About 5 years ago I noticed on my left forearm what appeared to be a growth. I wasn't sure what it was and it never caused me any pain or discomfort so I just ignored it. About a year a ago during a regular doctor's visit, I questioned my doctor about it and he said "if it doesn't bother you, don't worry about it." It didn't really bother me but I was very curious to find out what it was. About a month or two ago I went to see a new doctor about headaches I have been having. Toward the end of the visit I showed her my arm and her reaction was "Wow that sure is strange, we need to get that x-rayed." I had the x-ray the next day. When the nurse called back with the results she said that the radiologist could not give a specific diagnosis but that is was very abnormal and I should see an Orthopedic Surgeon. That doctor took another x-ray of my entire arm, from shoulder to hand. She showed me that on my forearm I had bone growth on the inside of my long bone and also on the outside and that is what caused the deformation on my arm. I also had the same thing happening on my upper arm near the shoulder. She wasn't sure what it was and said I may have to have a bone scan to see if this was happening in other bones and that she would send my x-rays off to a bone tumor specialist in Boston. Well, now I was really scared. Last week I went in to get the results. She said I had Melorheostosis. There was really no need to do the bone scan. She said it would probably show up in other places but there was nothing to do about it. I have no pain in my arm. It just looks a little abnormal. The doctor said to not worry about it and she would see me in a year to x-ray my bone again to see if anything has changed. She really did not give me much information on the Melorheostosis, just a definition and this website. She said nothing about treatments. I am really not sure what to think. After reading the other personal histories I realize that I am lucky that I have no pain associated with it. I just don't know if I should worry about it happening somewhere else in my body or if there is a way to treat it. I have included my e-mail address if anyone would like to contact me. I would appreciate any help or advice. I'm not sure if I should see another doctor or if I am just being paranoid. |
| Ashlea (Mother- Mary) | H | 2004 | Princewick | WV | USA | Left leg, foot, hip; right knee | At the age of 5 my daughter complained of leg pain. I took her to the family doctor, he took x-rays of her legs, lower back and hands. He found that her bones had lots of extra growth. Then we were sent to Shriners Hospital in Kentucky, where they diagnosed her with melorheostosis. They have done casting on her leg to try to keep the foot at a neutral position and put a brace on her for extra help after the casting. As of now, she has had several braces made for her leg. The casting and braces are not working effectively. Doctors are now going to wait until she stops growing, then try to do surgery to lengthen the leg and fix the contractures of her knee and ankle. Ashlea complains of low back and hip pain now. Please contact me, anyone can help by giving more information on this rare condition. |
| Elaine (Mother- Phyllis) | 2004 | Fort Polk | LA | USA | Left foot and leg | My daughter has severe pain in her left foot and leg. Since she was two she has cried of pain in her hip, butt, and leg but the doctors have always said it was "growing pains." She has always said "my everything hurts." In Feb. 2004, right before she turned 8, her foot had a lump on it. In March, it looked like the bone was growing backwards. In April her shoes are taking the shape of her foot and the doctor says it may be retracting cerebral palsy (it wasn't). In May we had several MRIs and the foot started to also turn in (they rule out bone and muscle disease because the leg is strong). In June we see the orthopedic surgeon (who did many more tests); and she now can only walk on her toes. In July she cried of pain daily and we get more MRIs than I've ever heard of (meanwhile I'm calling every doctor known to man because this needed to be attended to). In Aug. the neurosurgeon sends us away -- all scans look fine, but now her whole foot is deformed (so I made a lift for her shoe, and watched her fall all the time). In September, more tests and scans (terrible). Foot shrunk 2 inches and I told the doctors to please hurry!! October more scans. They thought it may have something to do with her former bladder trouble (it did not). But now the foot looks like melted plastic and this is the first we hear of the lesions. November her walking was limited and her leg is turning. I call the surgeon in distress; he didn't want to do the surgery until he knew the cause, but I said please she is losing a normal leg and there has to be something! He refers us to the bone oncologist. We had 3 days notice to prepare for tendon release/tendon transfers and possible bone transfer, but not if the bone oncologist thinks the spicules in the bone of the foot are dangerous or the surgeon sees no need! He saw no need but could not figure for the life of him what happened to the foot and what were the lesions in the hip. She had surgery on her foot 3 weeks ago and they said they had never seen anything like this - her tissues were like that of a 75 year old man so they did more tests and an MRI with dye. They sent the tissue away to be looked at and the next visit they say it is probably melorheostosis and that she has a severe case. They said it's not 100% and nothing is, but she's been cleared of every other possible thing they can think to test her on. She was diagnosed by a bone oncologist last Friday at Wilford Hall MC Lackland Airforce Base. I had never heard of this disease and they gave me a copy of a page from a medical book with the definition of melorheostosis. My daughter has also had a bladder problem and heart problems. I am just not sure what to do or where to go and I have no treatment plan. I am a seriously concerned mother. |
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| Jonathan (Mother- Angela | 2004 | Tusla | OK | USA | Right foot, leg and pelvis; mandible | My son Jonathan, has melorheostosis. On a trip to the dentist it was noted that he had a jaw tumor. An oral surgeon said it was benign but quite unusual. I took Jonathan to a podiatrist because his toes were becoming curved. I thought it was hammer toes. The podiatrist referred me to an orthopedic doctor and that is when he was diagnosed with melorheostosis. I am frustrated because the doctors here do not know about it and have no information or support to offer. My son’s right foot is two sizes smaller than the left. I contacted Nike directly (headquarters in OR) and they agreed to sell me two different sized shoes and only charge me for one pair, for which I am thankful. I am unsettled about the thoughts of my son’s future. Working in the medical field myself for many years I have seen a lot of horrible things and a lot of pain with different types of diseases. I know all I can do is wait and see how he will progress. He plays all sports and is very active and quite talented in that area. I realize now that he will not be able to play college ball or anything like that, but I will continue to let him play as long as he can. Let him enjoy it. If anyone has any information for me please send it. I thank you sincerely. Jon's mom, |
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| William | 2004 | Somerset | CO | USA | left hip to and including left knee | I was diagnosed with melorheostosis two years ago. It was discovered via an MRI. I have melorheostosis from the left hip all the way down to and including my left knee. It did not bother me much until recently when the pain really increased. The pain is intense, especially after working on my feet for a period of time. I am forced to sit down and raise the leg to rest. When I lay down at night after working on my feet, the pain is very intense. I do not know much except about it except what I am able to find on the internet. I would like to attend the next conference. | |
| Elizabeth (Mother-Marcellene | 2004 | Dallas | TX | USA | Hips, right foot and leg | Elizabeth had one leg that was somewhat shorter than the other. The pediatrician said it was not unusual and not that significant a difference. About a year later she was having significant back pain so we decided to see an orthopaedic surgeon. On x-ray he observed the abnormality in the bone. Additional testing was done that confirmed the diagnosis. Her symptoms include some deformity in the toes and occasional pain. Her orthopaedic surgeon is Dr. James R. Sackett. | |
| Heidi | 2004 | Left wrist, arm and elbow; some evidence in shoulder | Hi, My name is Heidi. I am a 26 year old female with melorheostosis is my left wrist, arm and elbow. I was diagnosed at 13 when I broke my pinky finger playing basketball. X-rays showed extremely abnormal bone growths. After thirteen years and two surgeries later, my bumpy arm still appears the same and the pain is still there. It doesn't bother me to the extent of severe daily pain but I experience discomfort and it bothers me cosmetically. I have learned to live with this bone disease. The surgeries helped smooth out the appearance of my arm and wrist bumps but they have grown back. My last set of x-rays showed I have some evidence of melorheostosis in my left shoulder but it does not seem to affect me. I will continue to hope for a cure to this rare bone disease and have enjoyed learning I am not alone in my struggles. |
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| Nancy | 2004 | Falls Church | VA | USA | Left foot | I began having pains in my left ankle probably around the age of six or seven. Gradually the pain got worse every year, but came and went at different times. I remember one summer I woke up with intense pain and swelling when I was about eight or nine years old. I could barely walk on it for a few days, but it did begin to feel better, so I never went to the doctor. The right side of my left ankle was swollen and very painful to the touch. Any time I'd twist it in the wrong way I'd cringe. But then some days I'd feel perfectly fine. Finally, when I was about 13, I went to the doctor because I wasn't sure if I'd be able to participate in Physical Education with my ankle hurting so often. The doctor took X-rays, but then wanted to consult with some other physicians. When I came back he told me that the "candle-drippings" shown on my x-rays was Melorheostosis. He said that usually the condition gets better as you get older, and that no treatment was needed. He said that exercise would help. I continued to take Advil almost daily to keep going. For the next few years my ankle did seem to get a little bit better. However, for the past couple of years I have noticed that my ankle is getting worse again. Now, strangely, the left side of my left ankle is constantly swollen. Four out of five of my toenails on my left foot are also thickened and partially discolored, and the skin on my ankle is very dry. I think I have noticed that my ankle does better when I've been exercising. I even trained to run an 8k, and my ankle was fine throughout the race. I have stopped running, and a few months ago I had another bad episode where my ankle hurt terribly to walk on and I had to take very strong pain killers to be able to walk. I am planning back to the doctor soon to see if anything has changed in the diagnosis. But what can you do when they all seem to say there's no treatment? Has anyone else out there heard that it can get better as you get older? I've suffered from this condition for over 10 years now, and although it is not life-threatening, I am just looking for some hope for a little relief. |
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| Carolyn | 2004 | Baird | TX | USA | Left leg | I am a 55 year old woman from Baird, Texas who was diagnosed with melorheostosis, ostepoikilosis, and osteopathiastriata of the left leg in 1976 at M.D. Anderson Cancer Hospital in Houston, Texas. The pain was so severe that I had to walk with crutches and I was hospitalized several times. The doctors were treating me for thrombophlebitis. I applied for disability in 1976 but was denied because it was not severe enough (they said). Since that time I have continued to work although the pain has gotten much worse over the years. In March, 2001, Texas Tech Research Center in Lubbock, Texas started research on our whole family on the osteopoikilosis, since there are quite a few of us that are carriers. Also, Dr. Struck in Berlin is starting research on our genes, which should prove to be interesting. I, too have had doctors turn me away because they do not know what this is and are not interested in helping me with the pain. The bone diseases could possibly be in my back also. Right now the doctors are asking me to take Fosamx--has anyone taken this with any luck? It is so good to find a site where I can talk to someone about this. All these years I have not known anything about these diseases and there has been no one that will listen or try to help. | |
| Dawn | 2004 | Flemington | WV | USA | Both legs | I am at a loss as to what to do about this disease. I know very little about it. I want to know if there is any treatment. I live in Flemington, West Virginia. So far it has affected my lower extremities. It was found when I had an accident and broke my leg. The x-rays totally confused the orthopedic doctor so he sent them to, I think, the Mayo Clinic or some such place to find out what it was. He had no experience with it at all and had only seen this in a textbook in medical school. So at this point I know nothing, and I can't seem to find anything online about treatment for it. I have had severe pain in my legs for a long while but couldn't find out what it was. I also get a constricting feeling, and severe muscle cramps; I'm not sure how that affects this or even if it is part of it. My GP knows nothing of this either so we are at a loss. I also have another very rare condition called Relapsing Polychondritis; it is a cartilage disease which has affected several areas of my body. |
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| Maria | R | 2004 | PHILIPPINES | Right femur right knee | Sometime in 1996, I went to see an orthopedic doctor to complain about a clicking right knee. He ordered an X-ray or MRI, I don't exactly remember now because I lost the said plates in the course of seeking a second opinion. The first doctor wanted to do a biopsy immediately. The second doctor, Dr. Antonio Rivera, said it was a bone calcification and recommended exercises. Sometime in April of 2004 I sat on the floor to fix my lower cabinets. I was fine the whole night but when I woke up the following morning, I felt I had a pulled muscle. I was limping for 2 consecutive days; my right leg felt very heavy. I felt pain every time the right thigh extending up to my hip area would touch the bed's surface. I went to see another doctor at the Asian Medical Center who subjected me to an X-ray. The X-ray finding showed large osteolytic and obsteoblastic lesion probably representing bone tumor involving the distal metaphysis and physis of the right femur. The diaphysis showed sclerotic marrow. The lesion has a wide zone of transition from the normal bone. The margin is non-sclerotic. The lesion in the distal metaphysis shows soap bubble appearance. There is questionable soft tissue swelling noted. Primary consideration is a bone tumor with signs of aggressive behavior. The X-ray of the pelvis showed a popcorn-like calcification in the soft tissues of the right hip adjacent to the greater trochanter of the right femur. There are minimal marginal ostephytes in the superior acetabular rims. The joint spaces are intact. I went through a whole body bonce scanning at the Makati Medical Center and the conclusion was abnormal, non-specific radioactivity at the right hemipelvis and right femur. I went back to Dr. Antonio Rivera after having undergone MRI at the Cardinal Santos Medical Center. The impressions given by Dr. Tan are as follows: 1. The radiograph, bone scan, and contrast-enhanced MRI examinations favor a diagnosis of monostotic sclerosing dysplasia with melorheostosis and osteopathia striata. 2. A more distant possibility is chronic sclerosing osteomyelitis of Garre. 3. The possibility of a blastic neoplasm is considered much less likely. Bone infarction is also considered unlikely. 4. The current MRI examination was not designed to evaluate the region of the right hip. However, the corresponding radiographs and bone scan demonstrate possible previous avulsion injuries with associated dystrophic calcification. I am very thankful that bone cancer has been ruled out. I am also happy for all the information that I have gathered through the website and hope that my case history can help in understanding this rare bone disease. |
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| Kent | 2004 | Loganville | GA | USA | Left ankle foot and hip | I first began experiencing problems in 1974. I had two different surgical procedures before the melorheostosis was accurately diagnosed. Ultimately, I had my left ankle completely fused in 1986 and remained relatively pain free until late 2003. I have begun to experience significant pain in my left foot associated with even short periods of standing. To this point, I have been unsuccessful in finding a physician that knew anything about the disease; I have to tell most of them about it. I would be extremely interested in a possible referral to a knowledgeable doctor. | |
| Hunter (Parent- Donna) | 2004 | Milan | TN | USA | Left foot and lower leg | My son was diagnosed with Melorheostosis of the left foot and the lower left leg on 12/30/03 by Dr. Susin Austin an Orthopadedic Pediatrician, through the Le Bonheur Childrens Hosipital of Memphis, Tn. Our local Pediatrician Dr. J. Todd Blake of the Childrens Clinic of Jackson, Tn sent us to her upon referral. I first noticed the left leg and foot were different from the right at the age of 5 to 6 months. At the six month check-up, I mentioned this to Dr. Blake; he suggested to wait until Hunter started walking to see if the legs would check up in size and shape. Hunter never crawled; he scooted on his bottom with the right leg tucked underneath him and the left, affected leg as the puller. Upon the 15 month well-baby check up, Hunter was walking for almost 2 months. Dr. Blake examined his leg for changes and found a visual leg length difference. We were then sent for x-rays of both legs. The x-rays showed 7/8ths of an inch difference in the leg lengths. Dr. Blake sent us to Dr. Susan Austin of LeBonheur. She set up the MRI and upon the results we were diagnosed with Melorheostosis. My son walks on the inside of his foot, never walking flat footed. His 3rd, 4th,and 5th toes are contracting, leaving them in an upward point. His foot and leg is thicker and hardening. Now we are having trouble with shoes and we end up buying two pair of different sizes. On April 5th we are to see Dr. Neal Green of the Pediatric Orthopaedic Clinic at Vanderbilt University Medical Center. Our Pediatrician, Dr. Blake, has done research for us through the Hospital Library and has come up with several articles about the Oschner Clinic and Alton Oschner Medical Foundation of New Orleans, LA. These have been helpful in gaining knowledge and we hope to visit the clinic in the near future. I'm so glad that I found this website and have read your histories. It has helped me to gain insight on this disorder. I pray every night that a breakthrough will happen in my son's lifetime and I have added each and every one of you to my prayers also. Update: April 5th, 2004, we had our full body x-ray and we found out that we have it in more than just the left lower leg and foot. Even though it is bad news, my family and I remain hopeful and we are just going to take it one day at a time. My husband said that any time he wants to go and do anything, just because we may be tired we are still going to get up and go, because there will be a day that he may hurt too much and we will always have our memories that we made with him. We are in the process of starting physical therapy. We hope this will help him stay strong and help him later on. |
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| Sharon | 2004 | Lake Worth | FL | USA | Right hand, arm, shoulder and collar bone | I am a 61-year-old Caucasian female diagnosed with Melorheostosis in 1970. At age 7, about 1950, I was evaluated regarding my right arm and hand which my parents had been noticing a significant change in since about age 3. There was no diagnosis at the time. It was suggested that I could have surgery after I was fully grown to possibly correct some of the deformity. I do not think I was experiencing pain at the time. As I grew, it appeared to be only my right side. My arm grew crooked, causing it to not hang at my side normally like the left. My right thumb grew short and pressed against the hand, my wrist thick with not much flexion, and my right shoulder blade protruded. I was right handed but had to train myself to use the left for picking up things, throwing, etc. As a result I became ambidextrous. My hair and nails are thick and grow very fast. The nail on the left thumb has always been deformed. I was, and still am, constantly noticed. People would say, “why do you hold your arm that way”? “Why do you peel an apple that way”? “you sure hold your pencil funny”, “why is your thumb so short”? “How did you injure your arm”?……it has been difficult explaining over and over again, so I will just try and camouflage or hide it in some way rather than go through the explanation again. I was fortunate in having a family that encouraged me to accept the things I cannot change, change the things I can, and the wisdom to know the difference; so when my adulthood approached and I had to decide whether or not to have surgery, and I chose not to do it. I was not having any pain with it and I had managed to train myself to do things differently. I had already accepted the fact that playing sports or being a cheerleader or model was out of the question, and I was ok with that. I married and had 3 children, which did not show any signs of it. I was relieved. Even though the doctor said it wasn’t hereditary I was still anxious about it. I was even more relieved that as they grew they didn’t develop any signs of it. I saw a doctor for pain and stiffness in my right arm and shoulder in 1970 at the age of 30. I was also experiencing the arm going to sleep when I would get still and while driving. After taking x-rays he discussed them with me and pointed out the melting wax look on my bones and wanted to research more, as he had never seen the condition before. I agreed to have x-rays taken of my whole body. It was found in my right arm, hand, shoulder and collar bone area as well as my left shoulder and collar bone area. I went away with a prescription for an anti-flamatory until he could research the condition. I was later given the diagnosis of Melorheostosis, and that it is nothing lethal. It was so rare he told me that no treatment is available. He suggested that I have x-rays taken every 10 years to monitor for any change, which I have done and there is no change to date. The doctor performed carpel tunnel surgery for the arm and hand falling asleep, and it has not done it again to this date. I gave him permission to take a piece of the bone while doing the surgery and have it tested. The results came back negative of anything like cancer, etc. Once a year I get a bone density test. They always report to me that I have the bones of a 30-year-old and that I do not ever have to worry about developing osteoporosis.….that’s always good to hear. I am in chronic pain constantly - my entire body, even though the x-rays show it to be only in my right arm, hand, both shoulders and collar bones. I have tried every anti-inflammatory there is, local injections, hot and cold packs, physical therapy, medrol paks, acupuncture, chiropractic and epidurals. I have had MRI’s from head to toe and nothing shows up as being wrong. Exercise worsens the pain, but I do walk and swim. I am so glad I found this website. I hope my story might be of some help to others who have the condition and also to doctors. I have been to dozens of doctors over the years and none of them knew what it is. I would appreciate hearing about any clinical trials or anything new that might help the pain. |
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| Liz | 2004 | Stourbridge | West Midlands | UNITED KINGDOM | Middle finger on right hand | Long time ago but I remember horribly intense pain which kept me awake until I would drop from exhaustion. The bone in the finger grew abnormally until there was a visible lump - on x-ray as dripping candle wax - within a short space of time; and after what seemed like a lifetime I had an operation to remove a large section of the bone. I had many x-rays for a number of years afterwards of my whole body and there were more dense areas showing on the long bones in my legs and arms, though I never developed the candle wax appearance that occurred on my finger. I still have pain in my finger, and sometimes my other bones, though not as intense as those days. | |
| Julie | 2004 | Franklin | PA | USA | Right hip, femur and knee | My name is Julie Williams. I am 33 years old and I'm from Franklin, Pennsylvania. I was diagnosed with Melorheostosis in my right hip, femur and knee in 2003. I've always had problems with pain and swelling in my right hip and knee but never sought treated for it. I always thought I had fluid on my knee from jogging. When I went to the doctor, I was amazed to find out that I had this rare bone disease. After going through several x-rays, bone scans and blood work, I still do not know what exactly can be done about my pain. I have severe swelling on my knee, so bad that I can not bend my knee. My one doctor also informed me that I have a tumor on the side of my knee but mentioned nothing about removing it. I was referred to a specialist but was told that there really isn't anything they could do for me. I've been living with this pain and everyday it seems to be getting worse. Does anyone have any advice or know of a doctor located in Pennsylvania that I could go and see? I can honestly say that I feel your pain. It's reassuring to know that there is someone else out there that truly understands what I am going through. | |
| William | 2004 | Hoffman Estates | IL | USA | Left femur from hip to knee | Diagnosis determined in 1984 by Mayo Clinic, with x-rays, MRI and other tests. Left leg pain was excruciating during and after bowling or any physical activity requiring leg exercising, like climbing up stairs. Mountain hunting was a bear. A shot in my spine with Novocain and other medicine reduced the pain 80% by breaking up the electrical circuit to the nerves. It worked for 20 years until a head surgery now has my pain back. | |
| Azizul | 2004 | Perlis | PHILIPPINES | Left foot (ankle) | I was diagnosed with melorheostosis in 1998. At that time, I was studying at CWRU, Cleveland, Ohio. I felt pain in my swollen ankle, and I went to Cleveland University Hospital to get treatment. From the x-ray, the doctor diagnosed me with this disease and recommended that I have surgery to remove the swollen muscle. I did not know much about the surgery but the result was very promising at first. However, after several months, the ankle started to swell again and I have some difficulty moving. Since I came back to Malaysia in 2000, the condition remains the same, not better and not worse. I never had any further treatment after I came back to Malaysia. I really hope that somebody may give me a suggestion on how I should proceed with the treatment |
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| Graham | D | 2004 | Reading | ENGLAND | Right hand and middle finger | Symptoms: stiffness, pain, reduced movement, swollen finger. Diagnosis: developed symptoms at 8 years of age; diagnosed in 2001 by MRI scan and x-rays. Treatment: physiotherapy, cortisone injections offered but not taken up, outpatient follow-up with orthopaedic surgeons. Any advice regarding symptom relief and treatments available welcomed. |
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| Chip (Parent- Melvalina) | 2004 | Bedford | KY | USA | Right foot, 3rd toe; whole right leg, hip and spine | My son was diagnosed with melorheostosis at the age of 4. He now is 14. We thought he had fractured his 3rd toe when the wood he was packing dropped on his foot. The toe was growing and sticking out, and then the 2nd toe started curving behind it. They operated on the 3rd toe and tried to pin it back, but it didn't work. It turned black at first and they were talking about taking it off. Thank God they didn't have to. When they took the pin out, the toe popped right back out. They said if the surgery didn't work it wouldn't get any worse. Well it did and now it includes his whole foot and all the way to his hip. They say they don't want to do more surgery until he stops growing, because if they do it now, they'll have to do it again, and they can't guarantee me anything. His leg is 2 in. shorter and 2 in. bigger around then his left leg. His right ankle is contracted and turns sideways. He wears a brace and a 2 in lift, which he complains about rubbing and hurting, so he refuses to wear it. The dr. says in a year if his foot doesn't stop turning with the new brace he has to have surgery to try to correct it, but still no guarantees. He has to have hip replacement when he is older, along with possible bone stretching. The doctor says she wants to operate on his good leg at the knee to stop growth so his right leg may grow to catch up with the left leg. Well they did this surgery too along with trying to pin his toe back again. The toe was Chip's decision. I wasn't going to do it because no guarantees. As you can see, it didn't work. So what is a parent to do about decisions like these when they can't guarantee us anything. It scares me to put him through this when all that may come out of it is more pain and the same shape if not worse then he is already in. Right now he can play just like any other child. He plays basketball and other sports. It hasn't slowed him down. The doctor says to let him play and do what he wants for as long as he can, so I do but with a lot of worry. As stiff as his ankle is I'm afraid he will snap it. So what are we to do with the decisions they leave us. Now he is having back pain. I have applied for disability for him and will know something within 90 days. Comments/Suggestions : I am very glad to find this web site. It helps to know a little bit more about this crazy disease. I've been trying to find out more about this since my son was diagnosed with it at age 4 in 1992. No one can tell me much about it. This helps a lot, knowing there are others we can relate to, and especially to you. You would be the only one who truly understands what my son is going through and what still lies ahead. Your story really touched home because the exact same thing is happening to Chip. Thank you for your time. I would like to here from you! |
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| Marcia | 2003 | Pocos de Caldas | MG | BRAZIL | Middle finger on left hand | When I was fourteen years old, my middle finger became painful and uncomfortable. I went to a lot of doctors with different and sometimes crazy diagnoses until a younger doctor discovered what I had. My middle finger and left arm are thickest and the finger is lightly atrophied. Actually, I have pain just sometimes but these days my tendon has begun to "pull" so I started to find more about the disease. I think that I have had the disease since childhood although it was discovered in my adolescence. My childhood pictures show the atrophy in my middle finger of the left hand. I think it is very important to register that in my case the disease never had any significant progress. Now I am 32 years old and I have just a little pain sometimes. I was impressed how the case histories are very similar. And my case is very, very similar to Kathleen (Nottingham, England) and Jennifer's (Cincinnati, OH) cases. I'm very happy to find this site to know more about Melorheostosis. Thanks and Congratulations !!! Márcio |
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| Sophie | P | 2003 | Montreal | QUEBEC | Left hand left arm | My name is Sophie, from Montreal, I speak French so I'm sorry if my English is not too good. I was diagnosed when I was 5. I have the disease in my left hand (third and fourth finger) and left arm. I had surgery twice but it didn't do much. I played the piano for 12 years. I have a question: are we sure that this disease is non-genetic? |
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| Brandie | M | 2003 | St. Paul | MN | USA | Right leg and foot, left foot, right hip, lower back (possibly more) | Soon after my birth my mom noticed that the toes on my right foot looked funny, but when she asked her doctor about it, he said it would get better when I learned to walk. When I reached five and my toes hadn't gotten better, and my ankle now looked deformed as well, she took me to the University of MN Orthopedic department for an assessment, and I was diagnosed almost immediately with melorheostosis. The doctor who made the diagnosis and worked with me for 10 years afterwards was James Ogilvie (SR.). By the time I was 7, my right leg was so much shorter than my left that I walked on my tiptoes on the left to favor my right, which shortened the Achilles tendon on that side. I had surgery to lengthen it and physical therapy to re-learn how to walk properly. When I was, ten my doctor and my mom decided that surgery to lengthen my right leg (now two inches shorter than my left) would be beneficial, so I had a series of surgeries that included having surgery on my left knee to inhibit the growth of my left leg. As part of the process of lengthening my leg, the muscle had to be lengthened along with the bones, and the physical therapy used to achieve that end was the worst pain I have ever had in my life. My mom was the one who had to do the twice daily routine of bending my leg 90 degrees, which I had to endure by smothering my face in a pillow, because we learned the hard way that people in our apartment building didn't want to hear a child screaming in pain. I still don't know how my mom managed not to faint during these sessions, because as a mom myself now, I don't know how I could cause my child that much pain without passing out. The unfortunate thing is that the surgery on my left knee didn't work, so now after all that, my legs are back to having a difference of about two inches. Both of my ankles were deformed, and turned out to the side, so I wore braces on both legs to try to straighten them. It worked marginally on the left, so I had surgery on my right ankle when I was 13 to straighten that ankle enough to walk semi-normally. At one point my doctor tried to get me to wear little braces that went inside my shoes to try to "normalize" my feet a little, but they hurt so badly to walk in that I refused to wear them, and my doctor gave up on it. The last time I saw my doctor was when I was 14 or 15, when he said there was nothing else that could be done. The state declared me disabled when I was a child so we could get on SSI, because my mom couldn't work (she had her own health problems). I vaguely remember my doctor saying that what I had was so bad that I would probably be in a wheelchair by the time I was 19. That hasn't happened yet, but I can't say that it won't happen in the near future. I can't exercise, and I've never been able to run, not even when I was a child. I have had weight problems because some days I can't move well enough to do housework and take care of my 3 year old. There is no way that I can do what it takes to lose weight, unless I stop eating! I live with pain everyday now, and frankly haven't even tried to talk to my doctor about it. I haven't seen an orthopedist since I was a teenager, and I thought my disease was so rare that there would be no way anyone else would even be able to find out about it. I don't want to live everyday of my life on painkillers, but I think soon I won't really have a choice. I haven't had X-rays in a long time, and judging by the pain I have, my disease has probably progressed up my back, and maybe in my arms and hands. Part of me doesn't even want to know. What I do know is that it is a relief to know there are people out there who know what I'm going through. My husband lives with me, and it, everyday, but I don't think he could possibly understand the worst of what I go through. Good luck to everyone out there dealing with this, and God Bless! |
| Kathleen | C | 2003 | Nottingham | ENGLAND | Middle finger left hand | I was doing my degree at University when my finger became very painful. I was at the doctor's for something else and casually mentioned the increasing pain in my finger. I expected her to say it was nothing and that I was doing too much writing but she didn't know what the problem was and sent me to the hospital. The surgeon sent me for lots of tests and disagreed with the radiographer, who thought it more sinister. He was doing an article for the Lancet on Melorheostosis and knew that was what it was. He sent me off with a cheery goodbye and told me I had nothing to worry about. I asked him to write down the name of the condition but he said it was too long and not to concern myself. I have had to ask my nurse to write it down from my medical notes so that I could look it up on the internet. I suppose I am lucky it is not too painful just annoying sometimes. I do worry, though. I like to keep informed so I was not too happy at being swept aside. I don't know if it can spread or if it is anywhere else in my body. Will it affect me later in life? I would like to know more. | |
| Sally | 2003 | Cincinnati | OH | USA | Right foot and ankle | ||
| Andrew | C | 2003 | UNITED KINGDOM | Left foot | I was diagnosed with melorheostosis in 2001. I have had an MRI scans, isotope bone scans and various consultations with specialists, most recently with Dr. Richard Keen in London. I have tried strong pain killers, Fosamax, Alendronate, sodium tablets, together with miacalcin nasal spray. The pain is increasing so Dr. Richard Keen has recommended treatment with a drug called Zoledronate. Has anyone else been treated with this? |
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| Rebecca | 2003 | Meriden | CT | USA | left and right tibias and femurs, left ulna, right humerus | While serving on active duty as an airman in the United States Air Force, I was diagnosed with atypical melorheostosis, a progressive bone disease that can eventually cause joint fusion. This disease has not been found to have any hereditary significance. Before entrance into the USAF, I was an active and healthy teenager. Approximately two weeks after entering basic training, I began to have unexplained bilateral leg pain. Four years, an MRI, a bone scan, countless X-rays and a bone biopsy later, I was diagnosed with atypical melorheostosis by Dr. Norman Mindrebo. My guess is that the constant marching and running caused cellular damage to my bones and kicked my disease into gear. I continued to see Dr. Mindrebo, the diagnosing physician, until he retired from the AF. I began seeing his successor, Dr. Kyme, in February of 1996. Dr. Kyme and I discussed treatment options. He didn’t know of any, so I wrote to the Mayo Clinic for some advice. They sent me the names of three bone pathologists in the Omaha area. I went to Dr. Robert Recker, head of the Osteoporosis Center at Creighton University. I saw Dr. Recker in May of 1996. He looked at my films and decided I had Engelmann’ s disease, which may be related to melorheostosis. By coincidence, Dr. Recker had finished a study on Englemann’s disease. I reported this to Dr. Kyme, who requested a copy of Dr. Recker’s report from his office. Dr. Kyme does not agree with Dr. Recker’s diagnosis, as Dr. Recker had not looked at the slides from the bone biopsy performed in 1994 when he wrote his report. My battles with the Air Force medical community over four and a half years caused me to lose confidence in the entire Air Force, and ended what was at one time a promising career. I have all but decided not to have children. This is due to the resulting extreme skeletal strain, not to mention the ever-present fear that, although melorheostosis is not hereditary, I am afraid it could be passed on to my children. Dr. Mindrebo, my attending physician for 7 months, believes that my condition is analogous to Rheumatoid arthritis. The facts are that I was an extremely active child and teenager prior to my entrance into active military service. A mere 2 weeks after entering basic training I began to experience pain that has continued every day for the past 13 years and will continue every day for the rest of my life. Since Motrin and other OTC pain relievers do nothing for the pain I take Tylenol with Codeine two or 3 times per week. I would take it more often, but I have better things to do than lie on my couch in a drug-induced stupor, although sometimes that idea does not sound too bad. I visited a civilian doctor and radiologist. I had what is called a long bone survey. According to the X-rays taken, my disease has progressed at a very steady rate since 1991. Dr. Kyme indicated that my condition has stabilized. In a way he is correct. My symptoms have not increased in the past few years. In another way, he is quite wrong, because the disease process has continued, and will continue for the rest of my life. Recently I have found that running on an elliptical trainer, due to its extremely low impact, is a great way for me to exercise. Water aerobics is great for the same reason. Becoming active again has helped me deal with the pain and made me much happier. I highly recommend it. I appreciate this website so much. I have felt so alone over the past 13 years. No one understands the pain of this disease like people that suffer from it. A huge thank you to everyone involved. |
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| Jennifer | M | 2003 | Cinncinati | OH | USA | Middle finger and left hand | I am not sure how long I have had this condition, but about 3 years ago I started with a lot of discomfort in my hand, and I noticed a bulge on my middle finger. So I went to my primary care physician, and he sent me to see a bone doctor. From there I was sent to see an oncologist; he told me that it was not cancer and just explained to me what he knew of this rare disorder. I pretty much gave up, since no one could really give me the answers I was looking for. I have not had surgery yet, but if the pain keeps increasing then I will have to do something. The oncologist also told me that if I have surgery then the bone will rapidly grow back. Is that true? |
| Amanda | H | 2003 | Baltimore | MD | USA | Left foot and ankle, going up left leg | My name is Amanda and I was diagnosed in 1998. At the time I didn't think much of the diagnosis, the pain was minimal and I figured it would go away. I am now 23 and realizing the severity of this. I went first to a podiatrist who looked with concern and question, saying he had never seen something like this. He then sent my x-rays and recommended I see an Orthopedic Surgeon. After many more x-rays and an MRI he came to the conclusion of Melorheostosis. I went to physical therapy, which became too expensive, and the pain was still there. I also wore a foot brace for a while. I return to the doctor about every year complaining of worse pain and larger swelling. He tells me the same thing every year, no heels, wear the brace, and pretty much there's nothing he can do. I am still in college, and frequently go out. I refuse to wear that brace all my life, but find myself coming home early because I can't bear the pain. I haven't found anything to be helpful. So far I notice that working out and being on my feet make it extremely worse. I just began a retail job and am not dealing with the standing on my feet well at all. I'm looking for any suggestions, hope for easing the pain, or even just a friend I can relate all this to. I'm too young to have to worry about such an extreme problem. I even find myself worrying about how I will deal with this in the future with an upcoming job as a teacher and being on my feet all day. I think of myself as an extremely happy person, hopefully this obstacle can be taken away from my life! |
| Shawna | 2003 | Bountiful | UT | USA | Right hand and fingers; right wrist, forearm, elbow; joints on right side of body | I was about 2 or 3 years old when you could start to see a deformity in my right hand. I saw a picture of myself and was shocked to see the deformity at such a young age. My parents took me to see Dr. Robert Lamb when I was 10 or 12, 1983 or 1985, thinking I had some type of cancer. This Dr. did not treat me, but did do full body x-rays, possibly an MRI - I don't recall. He diagnosed me with melorheostosis and referred me to Shriner's Hospital in Salt Lake City, Utah. I was then seen by Dr. Sherman Coleman and he did a ligament repair on my right wrist/forearm because I fell on my deformed hand while roller-skating. A few years later, 1988, I had my middle finger straighten by Dr. Coleman's son, Dr. Don Coleman or Skip, also at Shriner's Hospital in Salt Lake City, Utah. This did not heal so I had a bone graft taken from my wrist and then with a metal plate in place it healed. This was in 1991 or 92. After this surgery is when I started having trouble with daily activities. I was very active in sports and other things that I can't do today. I can't play volleyball, basketball, softball, tennis, bowling (taught myself to bowl left handed!), waterskiing, and swimming is even difficult, cooking, cutting, writing, typing, should I go on? ) After high school I really just dealt with the pain and cut back on a lot of the activities I was able to do. Pain relief came only with over the counter med's. Dr. Coleman said to come back if it bothered me. So, I waited until 1999 and, at my husband's request, saw Dr. Skip Coleman again, but not at Shriner's -- at the University of Utah Hospital. This was because I was now too old to get treatment at a children's hospital and part of the reason I waited so long to get treatment. This time it was not for my hand, but for my elbow. I was not able to straighten or bend my arm. It was like it was stuck at a 90 degree angle. I was having trouble lifting my 2 yr. old daughter and work was being compromised. I had to teach myself to do a lot of things with my left hand. Dr. Coleman suggested an elbow replacement, which was not an easy thing since it was still a very new procedure. I did it and am happy to say I have more movement in my elbow than before, but my wrist and hand are still the bigger issue. After my therapy was done for the elbow replacement, I once again went on dealing with the intense pain and increasing deformity and restricted movement in my hand. I just went back to Dr. Skip Coleman on April 2, 2003. I am having increased pain in my ring and pinky fingers, wrist and thumb joint. It is very intense and unbearable at times, so much that I cry myself to sleep at night. The slightest movement, bump, or even over-extension is very painful. Dr. Coleman has now suggested that I have two of my knuckles replaced to relieve some pain. There is no guarantee that I will have any more movement or any guarantee of pain relief. He also suggested some pain relievers for the bone, not joints, that take a lot of management to get the doses right as an alternative to surgery. I don't know what to do. I just know I am tired of dealing with this pain and suffering. After this visit I decided to search the web for info about this disease. I can't believe that I have stumbled on this website to find other's with this disease! I was told that this was a very rare disease and that I was one of two cases known in Utah. Everywhere I go, I am constantly asked if I hurt my hand, broke it, if it is swollen, what's wrong with it. Without realizing it, I hide or protect my hand in everything I do. It is very difficult to type for long periods of time. And I have a hard time more and more as this disease controls and limits my life. So far, I am very delighted with this website and to finally find others who know how I feel and what I am going thru! I'm looking forward to information and friends I can gain thru this website. |
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| Michelle | L | 2003 | Fareham | Hampshire | ENGLAND | Right foot, knees, back and pelvis | Apparently I was born with this condition although it has just recently been diagnosed as Melorheostosis. I have been attending osteopaths, and physiotherapists but I still don't have the information I require. Does this spread to other parts of the body? Can anything be done for this condition other than take pain killers? I have been told by the 'experts' that there is no point in shaving the bone as it will just grow back and basically there is nothing they can do for me. This condition is causing me a great deal of pain each day in my foot, knees and lower back. It effects the way in which I live my life everyday. I used to do Taekwon-do but have had to give it up because of this condition. I can no longer run and am not able to play football (soccer) with my son. This condition is so frustrating and I just want some answers from someone who knows about this condition. I am grateful for any information, no matter how small. Love and best wishes to all of you out there in the same situation. Please stay positive and don't let the pain get you down! |
| Jody (Parent- Jill) | P | 2003 | Portland | OR | USA | Left arm and hand | Jody started carrying her left arm inward. In the beginning we thought perhaps it was due to weight gain (rapid in last several months) and took her in initially for the weight issue. I asked about her carrying her arm the way she did as it was a recent development. We then sat in the doctor's office for several hours while another doctor took a look and we had x-rays taken and blood work done. It was then that I learned she could not straighten her arm. We were not aware because her physical activities have not been limited in any way and we saw nothing abnormal. We were then referred to an orthopedic surgeon who ordered more x-rays and a bone scan. After many doctors looked at the scan, including ones from the university hospital, and ruling out anything else, it was diagnosed as melorheostosis. Jody is doing well; she handles it better than I do, I think. She understands it could very well progress and at this point there is nothing to do but wait. We have several appointments for physical therapy in case it will help increase her mobility in that arm. We have a follow up appointment in a year unless something changes and we need her seen sooner. The doctors do not think surgery is an option and I agree as I do not want to cause her more pain or affect her life any more than it will be. If the time comes and it is necessary or pain medications are needed we will go that route. In the meantime, nothing will change. Jody will not have her activities limited and will continue with life the way she always has. I am saddened by the lack of information there is on this disorder and I am not happy to know there are others dealing with this, although I am glad I found somewhere I could write. Anyone with any information or articles on this is welcome to email me. Thank you |
| Pamula | M | 2003 | Madison Heights | VA | USA | Left tibula, fibula | I was just diagnosed with melorheostosis, osteopoikilosis. I started having back pain with leg numbness and weakness. The doctors I seen really can't tell me much at this time |
| Michael | H | 2003 | Stevens Point | WI | left leg and foot; spots in other areas | Spots here and there throughout, but large affected areas on left leg and foot. Diagnosed around 1983 after complaining about leg pain and stiffness in left leg. Years of growing pains were the diagnosis until X-rays showed the candlestick bones in the legs. Spots on the hip, ribs, arms and vertebra did not show the drip affect but the discolor of the spots was the same as the diagnosed portions of the leg. I have mainly been able to reduce pain with aspirin and Tylenol. I have partial movement of the left ankle. The pain is very bad after no movement of the joint for an hour or so. After walking on it for a half hour the pain goes away and is not noticed. I checked in 1990 with local doctors and found there was still nothing to be done about it. I do not recall if a comparison of the old and new X-rays was made to see if it was getting worse or not. |
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| Elaine | O | 2003 | Hamden | CT | USA | Foot, femur, hand | My melorheostosis is on my right side: ankle, femur and some of the fingers of the right hand. I discovered the problem when I was 19 years old. The doctor I saw at the time brought my x-rays, etc to a medical board for a definite diagnosis. Because it was so problematic, I had surgery at age 23 and again at age 39 to scrape some bone away and test for malignancy. The surgery did not help and I developed a lot of scar tissue. At one point my information was directed to the Mayo Clinic to see if there was anything else that could be done. I have been to many doctors over the years, but no one could offer a solution. Further surgery was not recommended. Aside from the pain, I can no longer wear a full shoe on my right foot - I wear clogs. I have refused to take any pain medication. It has curbed a lot of physical activity such as walking long distances, skating, etc. Recently I went for a bone scan. The view of the lateral spine was poor. My doctor suggested I take Fosamax. My question is will the Fosamax increase the bone density not only in my spine but in the areas affected by the melorheostosis? I have contacted 3 doctors in the area and they are baffled as this is such a rare disease. Is there anyone who can help me answer this question? I am currently trying to secure an appointment with a bone specialist in New Haven, Connecticut. If anyone would like to contact me I would be interested in what they have to say. |
| Steve | 2003 | Westport | CT | USA | Right hip down to foot | I have had melorheostosis all my life. My disease is in my right hip down through my foot. I am currently having a problem with my right knee with calcification in the soft tissue of the knee. If you know of specific literature that addresses that, etc., please let me know. My doctors, who do a lot of research in this area are Joseph Lane, Russell Warren and Linda Russell, all at the Hospital for Special Surgery in New York. Comments and suggestions: Thank you for putting this site up. Previously, it was very difficult to find information on the disease. I have also told my doctors about it. |
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| Krystal (Parent- Terry) | 2002 | Brownsville | TN | USA | Foot | Krystal had an accident on a 4-wheeler in June of 2002. She had sprained her foot. I took her to the hospital for x-rays to make sure her foot wasn't broken. I was relieved when the doctor said her foot wasn't broken, but was in shock when he said he had found melorheostosis. We are going to see a doctor at the Bone and Joint Clinic in Jackson, Tennessee. I don't know what to expect since it is such a rare disorder. I just don't know where to find a doctor, that can help her. Can anyone help us? | |
| Jessica (Parent- Becky) | 2002 | Fort Madison | IA | USA | Hand, wrist, forearm, shoulder | ||
| Elizabeth | 2002 | Reading | Berkshire | UNITED KINGDOM | Left knee | My problems started at age 11. I had my kneecap and cartilage removed at age 15. Since then I have had 7 further operations resulting in removal of all cartilage except one little bit left on the outside of my knee joint. I have also had bone growths removed each time. During the last surgery in January 2002 a large mass was removed from within and just below my knee. They seem to grow back very quickly and I have to keep having them chiseled out, as my surgeon tells me. My left knee is very deformed and leans inwards which makes walking painful. I also find that as these growths develop, the deformity gets worse and I have also developed arthritis; it is extremely painful all of the time. In the hope of finding something helpful, I am due to see a Bone Specialist in Oxford at the beginning of October and due to see my Orthopedic Surgeon again in December. My surgeon is Colin Ferguson at The Royal Berkshire Hospital in Reading, who is fantastic but does not know very much about the disease. |
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| Maria | D | 2002 | Santa Rosa | ARGENTINA | Right leg | My name is Daniela, I'm 24 years old and I'm a student of Biology in the city of Santa Rosa in Argentina. Two days ago the doctors told me that I have Melorheostosis, and looking for information on the Internet, I found this site. I started with a pain in my right leg a month ago (July 11). I saw a lot of doctors; they took a biopsy but still didn't know what I had. A bone specialist in the city of Buenos Aires suggests the disease of melorheostosis. The radiological image of my right femur is like you say on the internet page "as a candle chorreando" (I don't know how to translate "chorreando"). Actually the pain had gone, and I'm living a normal life. Doctors say to go back to them only if I start again with the pain; I hope this won't be necessary. If you wish to contact me because you have the same disease, please do it to danihany78@hotmail.com . I'll be really happy to know that I'm not the only person in this moment that has this disease. If someone has more scientific information, please contact me. |
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| Steve | 2002 | San Diego | CA | USA | Left knee | I was first diagnosed at about age 10 after complaining of severe knee pain resulting primarily from sports activities. My left knee also had a large "knob" on the left side of the knee. At first we thought this was just "knobby knees". After many visits to the same orthopedic doctor, he finally diagnosed Melorheostosis. We decided on a fairly major surgery to deal with it. This involved removing a large pie shaped wedge of bone from the knee and doing a "bunch of other stuff" to patch it all back together. I was in a full cast for about 5-6 months and crutches for about 9 months. To make matters worse, my right leg continued to grow longer while the left leg stopped after the surgery. This meant shoe lifts to deal with the differential of about 3 inches. Then, a couple of years later, a surgery was performed on the right leg to shorten it to make it equal to the left. Although I have been somewhat restricted in what I can do, I currently play golf, work out regularly and even surf (I'm sure my doctors would not approve of the latter). I occasionally get pain in my left knee after long walks, but it seems pretty good, all things considered. My questions is this: Does this disease get worse over time? Can I expect new problems as I get older? |
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| Nadia | 2002 | Dundee | SCOTLAND | Right leg throughout | Diagnosed at age 15 in 1997 by Dr. Al-Dadah in Crosshouse Hospital, Ayrshire (Scotland). Treatments tried were bisphosphonates (unsuccessful), Calcitonin by nasal inhalator and also by injection (nasal spray was not successful and injection caused a strong respiratory reaction so was discontinued). Currently on no medication and relying on herbal method for pain relief. Herbal method used is Black [onion] Seed (Oil and Seeds) please see www.sweetsunnah.com for more details on this herb. Symptoms: Constant pain on all affected areas of right leg. Temporary periods where walking is almost impossible. Sleeplessness due to pain and unable to get a comfortable position. Lethargy and depression are normal in winter months. Pain relief: By distraction method ( where you concentrate on ignoring the pain) though this is very tiring - painkillers leave me feeling numb, dizzy and forgetful. Hot water bottle or warm cloth soaked in herbs and oils. Hydrotherapy by foot spa and bath spa. Eating Black [onion] Seeds and putting Black seed oil on affected areas. Otherwise known as Kalonji available at continental food stores. Comments: I was also planning to set up a British website for Melorheostosis once I figure out how to use Java or other good applications so I will let you all know if and when. I commend the author of this site on its progress! I am pleased to see people are using it. |
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| Angela | 2002 | Milwaukee | WI | USA | Left tibia, left foot and heel | ||
| Aaron | 2002 | Brooklyn | NY | USA | Foot and ankle | I didn't know about my melorheostosis until this week. I went to a foot doctor to have some insoles made because I was born with one leg shorter than the other. When I was younger, my doctor told me I should have insoles or I would develop a very bad limp and would be able to hear my hip bones grind. But I waited until last week to have the insoles made and that's when the doctor found something on an X-ray that he didn't like. He sent me for a CT scan, and this is what they found. I would like to know if the melorheostosis can spread? Can it can be treated? What could happen long-term if I don't take care of it ? |
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| Jennifer | P | 2002 | Holyoke | MA | USA | Right femur and patella | I am 29 years old and a Radiography student. I was at clinical at my local hospital and stumbled on my own x-rays. Upon inspection, it was obvious to me that something was not right. I quickly realized that where I have been having pain for years showed something abnormal. Needless to say I was extremely concerned. I brought the x-rays to the nearest radiologist. After digging in my old medical chart, there was the word Melorheostosis, and the appearance of "dripping candle wax", in 1987. I was 14 then. I was never told. Then, when I was 14, I had twisted my knee. I had arthroscopic lateral retinacular release. I also remember having 'raised bumps' on the back of my right leg from my ankle to mid-thigh, and asking my doctor about them. I vividly remember him saying "Oh, those are just fatty deposits, nothing to be worried about." At 14?! I still have those 'spots.' Any pain I've had since I thought was a result of the surgery. I have been to the doctor numerous times over the years for hip and knee pain, even an orthopedic, even the same one who performed my knee surgery. No one did anything more than prescribe an anti-inflammatory, which I never took. Why would I--it wouldn't make my pain go away. I discovered myself that my right leg is almost 3/4 of an inch shorter than its counterpart. It was still not enough to get any attention. A few months ago, I went to my doctor and insisted I have x-rays and an MRI, to see as much as possible. Surprise, I was again diagnosed with Melorheostosis. I was then referred to a Rheumatologist, who was very nice and did a very complete history BUT, she had never herd of it. She promised to do some research and filled a prescription for pool therapy. The therapy cost me $10 each time; they wanted me to go 3x a week. It was a little too costly for me since I'm a student, as a mentioned earlier. On my return visit to the Rheumatologist, last week, I'm afraid to say it was not worth the $10 copay. She shared the information she learned and copied some articles for me. |
| Laurel | 2002 | Lewisburg | TN | USA | Left foot | I just found out that I have Melorheostosis in my left foot this past Thursday and, unknown to me, I was diagnosed with this condition in June 2000, when I had a CAT scan due to an injury to my right ankle, and I was never told of this condition. In April of this year, I sprained my left ankle, and I have been having problems with healing. I went back to my family doctor, who referred me to an orthopedic surgeon the next day. He gave me some paperwork to give to the orthopedic physician. The radiologist's report included "sclerosis of several bones" in the left foot, including the second metatarsal, and his diagnosis was Melorheostosis as well a formation of a bunion on the left foot dating back to the CAT scan of June, 2000. His report stated that there was no sign of progression since 2000. I had no idea what this condition was until I found your Web site. I had been having pain in my left foot since the late 1980's, but I attributed it all to the bunion. The pain comes and goes, sometimes fairly severely. I saw the orthopedist Thursday, and he confirmed that I had Melorheostosis, but that it was non-progressive, not a disease, something I was "just born with." After reading the personal histories of other Melorheostosis patients, it greatly concerns me. Does anyone know of a physician in Tennessee, especially around the Nashville area, who has dealt with this disease? I don't feel comfortable with how my doctor casually dismissed this condition, and would like to get a second opinion. |
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| Theresa | F | 2002 | Hot Springs | AR | USA | Right forearm | I had gone to a hospital in Denver to be treated for asthma. Since I had been complaining of right hip pain, the doctor ordered a bone density test and a bone scan. The bone density was fine but when I had the bone scan the tech asked me when I broke my arm. I told him I had never broken my arm. He said, "Yes you have." So when I came home I went to see my orthopedist, who took another x-ray and then ordered a CT scan of my right forearm. The results from that said that I had indeed broken my arm and that it had been broken for a couple of months. He told me it was a stress fracture, probably from the prednisone I had been on because of my asthma. A few weeks later my arm was still hurting so badly that I could not use it or leave it unsupported for more than a couple of minutes without it hurting so badly it would bring tears to my eyes. The doctor then decided to send me to an Orthopedic Oncologist at the University of Arkansas for Medical Sciences. He ordered yet another x-ray and when the radiologist read the film he said that he would suggest a bone scan because I have an unusual enlargement of the ulna. The doctor at the Medical Center said that his diagnosis for me was Melorheostosis. I came back home and told my orthopedist and he said, " I sure am glad I sent you to the medical center, you will probably be the only case of Melorheostosis that I will see in my career." So now I get to look forward to living with this wonderful illness for the rest of my life and just pray that my arm heals soon. I was told that the fracture would probably take another 2 or 3 months to heal. |
| Mckenna | S | 2002 | Shelton | WA | USA | Whole body except skull and face bones | I have had melorheostosis all my life. We just didn't know it until I was 19 years old. The first diagnosis we ever got for my condition (which only affected my left hand and arm) was "the Sally Hicks Disease" as that was the name I was born with. I had six surgeries for the "Sally Hicks Disease," including putting pins in my fingers to straighten them and surgeries to lengthen the tendons in my wrist so it would remain straight. I had my left ring finger removed when I was 8 yrs old. When I was 10 it started spreading to the rest of my body, but it was only noticeable in my left leg and foot. The doctors didn't know what to do, after all there was supposedly no one else like me in the entire world. So for years my mother fought with doctors to keep them looking for things to do for me. By the time I was 17 I could hardly use my left leg. The heel chord shrank to the point that walking was incredibly difficult. I sprained my ankle numerous time because either my foot wasn't stable enough or I would lose feeling in it. So after a particularly bad sprain, we went to the doctor. She said that she knew what I had and it wasn't just "my disease," it was a rare form of C.P. (Cerebral Paulsey). And all I needed to do was have a heel chord extension surgery on my left leg (of all the surgeries I had, that was the worst one). So I had the surgery and for a few years I considered it a success. But then we noticed my C.P. spreading into my right heel chord. We went back to the doctors and they said that C.P. doesn't get worse. So they sent me to the genetics lab at Children's Hospital in Seattle to see what was causing this. On March 17, 1994 I was diagnosed with melorheostosis. They said that I was only the 301st documented case in the world and that I would probably end up in a wheel chair by the time I turn 40 (I plan to go dancing on my 41st birthday). But they also said they were optimistic about helping me. They have been doing experimenting with a hypertension drug called procardia to slow down the progression of the disease. I was part of the experiment and I must say it worked. While I was taking it, the bone streaks (as I like to call them) didn't get any worse. I didn't even develop new ones! But I had to stop taking it because it made my blood pressure drop too far. Now I have almost constant pain to some degree, mainly in my legs, feet and back (when my feet aren't numb). But I have been given a tens unit to stimulate the nerves in my feet and that helps with some of the pain and numbness. I have been in and out of a wheel chair over the years, just because it hurts to move. And fighting pain all the time is hard work. But I won't take any of the medications they want to give me for it because I have a 4 year old son who needs me. As for whether or not I end up in a wheel-chair, I'll post an update on my 41st birthday. I have not yet met anyone with melorheostosis but would like to do so very much. It feels so good to know this isn't just "my" disease anymore. |
| David | W | 2002 | Gloucestershire | ENGLAD | Right index finger | My name is David Waller. I am 17 years old and live in Stonehouse, Gloucestershire. My mum first noticed the unusual shape of the index finger on my right hand when I was a few days old. I was referred to Gloucester Royal Hospital, but after a few years of observation I was referred to my hand surgeon, Dr. D Sammut at Frenchay Hospital, Bristol. Initially it was thought that I had a cyst on my finger, but then looking at the x-rays over a number of years and from the biopsy of a bone sample taken from the finger, they suspected that I had Melorheostosis. This was confirmed when at the age of 14 I had the finger amputated. Since then, following further visits, I have been informed that there is no spread of Melorheostosis to other bones in my hand or body. | |
| Bobbie | 2002 | Granite City | IL | USA | Both feet left leg and hip | I first started out by going to a podiatrist for pain in my left foot. He took x-rays and gave me a shot of steroids which didn't help so he gave me another shot of steroids that didn't help. So I changed doctors. He also took x-rays and gave me two shots of steroids that didn't help. I kept looking at my x-rays and to me it looked like I was getting little worm holes in my bones. Finally I went to a doctor who also took x-rays. After reading my film he said that he knew what I had but he had never seen a case except in books. He sent me to a doctor at Washington University that had been published but all he wanted to do was observe the progression of the disease and possibly be published again because he had never seen an adult case. Some days the pain is unbearable. Comments: I was happy that I found this site because it helps to talk to others that understand what you are talking about. I would like to correspond with any and everyone. I live in Granite City, Illinois which is just across the river from St. Louis, Mo. |
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| Hannah | 2002 | Stockholm | SWEDEN | Left knee, shinbone and downward | |||
| Laurie | B | 2002 | Seatle | WA | USA | Left tibia | I have Melorheostosis in my left tibia. About fifteen years ago I had pain in my left leg, just below my knee. At first my doctors were not able to find the problem. Finally after a bone scan the tumor was seen. I then had surgery to remove the tumor. Recently I started to have some pain in my leg that reminded me of the pain I had experienced years ago. I had an MRI and bone scan. The area below my knee was enlarged this time and my doctor thought it best to do surgery again. He went in and shaved the bone and sent a sample to the Mayo clinic. They said it was Melorheostosis. I am doing fine now. I have no problems walking but the knee is still a little stiff. |
| Lizzie | W | 2002 | Hereford | ENGLAND | Left arm from shoulder to fingers. Index finger and middle finger bent towards each other. | First diagnosed in 1996 when I was 7, but I can remember being much younger when I couldn't hold a cup properly. Mum took me to see my family doctor who thought I had a problem with the tendons in my fingers and he sent me to the orthopaedic specialist. After a thorough examination he admitted that he was unsure of what was wrong with me, so discussed it with more orthopaedic doctors at a hospital in Oswestry. This was a specialist orthopaedic hospital. They diagnosed me with Melorheostosis and although it is painful at times, particularly in cold, damp weather, (of which we get a lot in England!) I have managed to carry on at school. I had to give up gymnastics as I couldn't grip the bars properly and I find it difficult to pull up the brakes on my bike. Mum has recently bought me a paraffin wax hand bath so that I can soak my hand when it is painful and I have found that this helps. Mum helped me to write this! | |
| Janelle | C | 2002 | Perth | AUSTRALIA | Left shoulder, arm writst and hand | Well to start with I was born with this disorder. The doctors noticed straight away as my left hand was bent all the way back to my forearm. At the time they did not know what it was and said I was too young to be able to tell or have surgery. It was not until years later (1990) that a doctor called Bill Gilmour diagnosed me with Melorheostosis. He still wasn't sure that it was that, after all the x-rays etc. To this day I am still not sure if the disorder I have is Melorheostosis or if it is something else. I will probably never know. Living in Perth, in Australia, it is a bit difficult to get information or to go to any doctors because the resources are just not there. I do lead a normal life, I play a lot of sports and there are not many things that I can't do. I cannot touch my shoulder or turn my left hand so it is palm up. Two of my left fingers (pinky and one next to it) are slightly bent and I cannot make a fist (close my hand). My left hand is smaller then my right hand and my left arm is a considerable length shorter than my right. I do not get any pain from this disorder but everyday if my hand is not in use, gets numb and is quite discomforting. I guess it is something I have learned to live with and my parents have not made a big issue out of it, so I was able to live a normal childhood, with only a few differences like not being able to play many instruments and sometimes a few difficulties when playing sports. I have not let it get in my way, so that is why not until now I have bothered to find out about it. I was in a car accident a while ago (2 years), now I'm left with a bad neck and back. The doctors are wanting to know about my left arm disorder to see if this has anything to do with my constant pain and why I'm not getting better. It is good to find a site like this and be able to tell people about my disorder who know what I'm talking about. I guess I'm lucky because I could be a lot worse off. I'm still living a normal life, but it would be nice to know if there is anything I can do about it. I haven't tried any surgery because no doctors really know much about Melorheostosis and I don't want to end up worse off. If anyone can give me some information, which I know will be difficult, because I am in Australia, so hopefully there are more people that will come to this site that live in Australia, that can help me about surgery or anything else. | |
| Mike | G | 2002 | ON | CANADA | Right femur | Leg began to hurt at 10 years of age. It came and went with different degrees of pain, sometimes so intense I would fall down. First doctor's diagnosis was hematoma. Then it became very bad (severe pain/began to favor left leg so much that lost an inch in diameter in right leg over next few months). At 14 years of age second diagnosis was calcium deposit from severe blow that could not be removed due to size. This repeated itself at age 19 when I began physiotherapy. Same diagnosis of calcium deposit from severe blow. It did get a little better but same result at 27 when I saw Dr. Webber who took bone scan and was not sure himself what he saw (look of candle wax dripping); consulted another doctor who found Melorheostosis in archives. Treatment: take whatever pills you were taking before diagnosis, which is Advil, that I take almost every night. | |
| Floyd | E | 2002 | San Fidel | NM | USA | spine, pelvis, right femur, left lower leg bones, big toes and probably hands or wrists | Tentative diagnosis 02/11/02! My husband was hospitalized in February 2000 for a neurological work up. The bone lesions were found by "accident" during an MRI. There followed a round of MRI's, CAT scans, x-ray Bone Surveys etc. The original consensus was metastes from probable prostate cancer. Another doctor was positive it was multiple myleoma in a rare blastic form. Another specialist has been sure it was testicular cancer. The only problem was ... no cancer was ever found in biopsies of pelvic bone and marrow and two sets of prostate biopsies. In 2001 my husband was awarded Social Security disability with Medicaid due to come into force in February 2002. We applied for Medicaid through our state welfare system and it was approved in December 2001 with back pay to October. My husband is in a wheelchair most of the time. The pain in his lower body and legs is nearly unbearable. Until two years ago he was a hard working man. Building many churches for Indian Missions congregations across the USA and building a church and campground here at our Indian Mission. Even after the first hospitalization he built a camp dinning area and kitchen extension with over sized 45lb cinderblocks. Now he can't put on his own socks or bathe himself. He gets into the shower, holds on to the frame and I bathe him. He is getting to the place he can barely cut his food but he feeds himself fairly well. I am now the pastor of our church as he can't be up very long at a time. His only treatment for the past two years has been a single treatment for another type of bone condition but it was discontinued. He's been on morphine for most of the past two years, along with Percosets, Amyltriptylene etc. None of it really gets ahead of the pain but sort of makes life bearable. Today brought the probable diagnosis and a request for bone scans of all four children. Our 38 year old daughter has been suffering with similar pain and problems since her early twenties. I'd been asking the doctors to look at the possibility that it was a genetic problem rather than cancer since cancer couldn't be found. The radiologist brought up the possibility of it being Osteopoikilosis along with Melorheostosis. On reading the symptoms he immediately called us to come in today. Since there didn't seem to be a treatment to help it, he conferenced with several other specialists for anything that might bring relief. Today the doctor also started my husband on Thalidomide experimentally to see if it will help. It has done great things for cancer patients and is being looked at for some autoimmune diseases. If it helps in anyway, we will post the information. It is expensive...about $1000 per month but he's trying to get medicaid to agree to pay for it. Looking back this has been going on for years. He just lived with the pain and exhaustion for too long. Good luck to all of you. We'll be praying for you as well. If the Thalidomide helps in a way we'll post the news. |
| Amanda | 2002 | Little Elm | TX | USA | Right tibia | About a year and a half ago I realized that my right shin was slightly different than my left leg. I wasn't concerned about it until my grandma who was nurse came and visited us in July of 2000 and said that I really needed to see a doctor about it. I went to my regular doctor and had an x-ray done and she thought it was just stress fracture and referred me to a doctor who specializes in sports medicine. When we got there we had more x-rays done and he said that there were two aggressive tumors and referred me to yet another doctor. That is when I was referred to Dr. Czitrom who was a wonderful doctor, but unfortunately is now retired. He had more x-rays done, had me have 2 MRI's, a bone scan, a CAT scan, and then a biopsy (August 2000). After the biopsy they found that the tumors were not malignant, and that I had Melorheostosis. I found that there was nothing really that they could do except surgery and he didn't want to do that unless necessary. In January of 2001 I was started having a lot of pain so they decided it was time to have surgery. So February 1, 2001, I had surgery and they removed the tumors and shaved part of my bone and put a gel inside of my leg to help it heal. It took quite awhile for my leg to heal after surgery and I have been going back and forth for follow ups ever since. Then in July we found that they had grown back. I went back to see a new doctor yesterday (1/25/02) and he said they had not grown anymore, but that I am not going to be able run or do anything like that and the pain won't go away unless I do something to control it. Also if I do not control it I will probably wind up having surgery again. So I am now taking Arthotec an anti-inflammatory, the doctor said for me to take them twice a day for a week and a half and if there are any problems such as it making me sick then I will have to try something different. It is pretty much a guessing game until he finds the right medicine for me. He also said I will probably be taking these medicines for a long time, which I am not to thrilled about. | |
| Samantha (Parent- Virginia) | 2002 | Auraora | MO | USA | Left hand, wrist, arm, elbow Update: shoulder blade and a little in spine | ||
| Mari | R | 2002 | Bismark | ND | USA | Left knee, left ankle, left foot, right hip. | Diagnosed at age 14 after complaining of knee pain. Began in knee area, and later moved into ankle and foot. Have had 3 surgeries, one on each area to clean out growth material from joints to allow for more normal movement. Looking at a possible 4th operation. This time on the knee as a tumor/growth is causing more and more pain and loss of mobility. Have been seen in Mayo Clinic and the Bone and Joint Center in Bismarck, ND. I have a large area of growth in a second area behind the knee now that is very painful and I cannot bend the knee much at all. A Dr. at the University of Minnesota recently said he could remove much of it but the surgery will be quite extensive since it is in an area directly behind major nerves and arteries. Recovery will take months of rehab and the results are sketchy. I am on Tylenol w/ codeine and Advil for pain. I am having difficulty sleeping as I wake often from pain. I cannot bend to sit in many positions that require me to bend the knee and have difficulty traveling, walking long distances and especially stairs. I am interested in visiting with anyone that would like to compare notes..... Update - 2/13/03 I have a new email address. I have become disabled as the melorheostosis has worsened. I wanted you all to have my new address. |
| Claudia | W | 2001 | Albertville | MN | USA | Left index finger | In June 2001 I had a ganglion cyst removed from my left ring finger. The surgery went all right. But a few days later my left index finger started swelling and hurting a lot. I asked my doctor, an orthopedic surgeon, about it and he told me to wait and see. About 2 months later I went back to him, showing him, that my finger had swollen even more. He took an x-ray and told me, that it looked kind of like something would be eating up my bone. Those were his words. So he sent me to have an MRI taken, because he suspected a tumor inside my bone. The MRI showed that it was not a tumor, at least not the kind he thought. He was kind of helpless but wanted to find out what it was. So he took a biopsy, because he then suspected an infection inside the bone. But it wasn't. So he told me to go for some physical therapy. I didn't want to do that without knowing what I had. So I scheduled an appointment with a hand surgeon. That was last week. He didn't have all my records but he called the other doctor to request at least some results. After viewing those and the x-ray he took he diagnosed melorheostosis. I had not heard of that disease at all. He told me a little bit about it but pretty much all I know about it is what I read on this web site (thanks to the creators of it!). My finger keeps getting bigger and it hurts more and more. I cannot bend it a lot nor can I stretch it. The stiffness is increasing. It pretty much hurts all the time, sometimes a burning kind of pain, sometimes it feels like someone is stabbing a knife right into it. I tried cooling it and I tried keeping it extra warm but it doesn't make any difference. The doctor said I should go for the physical therapy to try to get the movement back. I will do that. Comments and suggestions: I am glad that this web site exists. I was really scared when the doctor first told me about the disease. I am still scared, because it seems there is no cure for it. But I guess, exchanging our experiences is a good way to deal with it. Please feel free to write to me. God bless you all! |
| Fritz | 2001 | Braunschweig | GERMANY | Left arm hand and shoulder- especially writst and thumb joint | Symptoms: Light constant pain in wrist of left hand, thumb and radius. Severe pain for 2-3 days after carrying goods or after repeated stress, like riding a bike on rough streets. Hand and radius react with immediate severe pain on direct contact. Diagnosis: By chance during military service at age of 19 (ie. 13 years ago). Treatment: none Doctors consulted: several with unsatisfactory results Suggestions: For pain treatment I suggest taking THC (tetrahydrocannabinol), despite all prejudices, it is a powerful, all-natural analgetic with no secondary-effects. It causes no physical addiction. THC is used for pain treatment of cancer patients, in order to substitute morphine based drugs, which daze very much and cause addiction. |
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| Kevin | C | 2001 | Landsford | PA | USA | Both lower legs, arms and base of skull | I first went to my family Dr. in 1993 for pain in my left leg. He then sent me for blood work and x-rays, and from there it went down hill. He said my leg looked like what an old man's would look like. He then referred me to an Orthopedic Dr. and he did more x-rays and blood work, brought a medical book in and said that this was what he thought I had. I didn't know what to say or think seeing as I never heard of the disease or anyone who had it. He said he wanted me go to Hershey Medical Center in Hershey, Pa. I went to see Dr. Parrish who was my Dr. through all of this. He is in charge of bone problems, tumors and a lot of other bone disorders. He did more x-rays, and bone scans. That's when he determined that the condition was in both my lower legs and arms and on the base of my skull. The only place it bothered me was my lower left leg, shin bone. The pain was unbearable. This was the start of my treatments. He first tried to scrape and drill holes in my shin bone to try and release pressure. It stopped the pain for a little while then the bone grew back in a short while. He tried two surgeries, kind of the same way, but to no avail. It all grew back. I even went to see a blood specialist. They even tried the treatment of Aredia, that they give to people with bone cancer, that didn't even touch the pain. This past August it started in my right leg, I made an appt. in Hershey and he took more x-rays and it was there, and then my arms started bothering me with the same kind of pain, So I knew I had it in other places but it never bothered me until recently. I just recently experimented with Celebrex but that didn't work so I stopped taking it. He now suggested as of Oct. to go to Pain Management, to see if that will help me cope with the pain. Comments and Suggestions: I have exhausted I think all different ways and found this site on the internet. Glad to know there are others out there looking for help. Thank You. |
| Carla | B | 2001 | Boston | MA | USA | Both shoulders pain more severe on left | I had been ignoring a shoulder pain for years; I used to lift weights pretty intensely, which is when I'd started noticing the pain, and assumed that was the cause. Two summers ago driving started irritating it - and then any kind of reaching & lifting up (like putting the dishes away). So I finally gave in and went to the doctor, who sent me to an orthopedic woman, who took x-rays of my left shoulder. She looked at the x-rays, and called me to re-take them, as well as some comparison x-rays of my right shoulder. I think she thought the x-ray tech had done something wrong. She came back to me with a tentative diagnosis of melorheostosis, which she confirmed after talking with specialists and surgeons. She gave me a prescription for piroxicam, which I take once a day and which definitely relieves the pain. She's also given me some exercises to help strengthen the muscle around the bone - basically range-of-motion type things with light (3lb) weights. I'm not sure what the next step will be. I see a specialist in November, when they'll take more x-rays. I don't get the impression that the doctor I've been seeing sees this as any big deal, which concerns me, but I'm going to wait until I've seen someone who actually has some knowledge about melorheostosis before I let myself get too stressed over it. After reading some of the other histories, I feel like my experience is pretty mild thus far, but I'd like to talk to others, be there for them and play "guinea pig" if the opportunity ever arises. It's REALLY nice to know there are others going thru the frustration of having an affliction no-one, including some doctors, have heard of. |
| Joyce | W | 2001 | Seattle | WA | USA | Both feet, legs and left hip | I was diagnosed with melorheostosis 3 1/2 years ago, but looking back I can recognize its effects as much as 16 years ago. I was a secondary school vocal music teacher for 40 years and as such spent a lot of time on my feet, usually in 2 inch heels. I was not good to my feet! In 1985 I had a hysterectomy and began noticing a marked decrease in the amount of time I could spend on my feet - either standing or walking. All my life I had been an active walker-hiker and I began berating myself for giving in to my "laziness". I exercised, but continued to deteriorate. I retired from teaching, but continued to substitute until that became too much for me. Now I teach one afternoon a week at a local Junior College. I was diagnosed with Melorheostosis when I broke a couple of toes, and had x-rays taken. These showed the disease involved my toes, heels and ankles on both feet. Numbing began shortly after the diagnosis. Now it is creeping up into my shins. Worst of all, it is affecting the muscles in my left leg so that I can walk only a block without having to sit down and let my leg muscles re-oxygenate. I have begun to use a cane for short distances, and a walker (with a seat) for longer efforts. My main object in life at present is to stay on my feet. I am thankful, as a musician-pianist that it has not affected my back and arms. I am no longer able to play the organ as my feet can't feel their way around the foot-pedals. My common sense told me to stop taking a calcium supplement, and since the rest of my bones show no sign of osteoporosis. I feel it is right for me. I message my leg muscles to help take the "knots" out. I do have a lot of stabbing pain in my feet, particularly at night when I have nothing else to distract me. I am always finding alternative ways to do the things I want to do. This summer I took a 2 week cruise tour to Alaska with some help from my daughter. I'll do what I can for as long as I can. I have not met anyone else with Melorheostosis. In fact, I have not seen a physician who had ever seen it before. Helpful information has been totally lacking. I do hope that we can help one another on this web site, and that doctors will get involved. I would appreciate the opportunity to email with others, as I have an "email-only" device which does not allow me to view websites at this time. Exchanging emails from others with melorheostosis would be wonderful. |
| Dreama | G | 2001 | Burbank | WA | USA | Left foot and leg | My foot just started hurting one day in 1983. So bad was the pain that I thought I would go out of my mind. Saw an orthopedic surgeon. He took x-rays and I could hear him in the hall when he put them up say "oh my God". So I went into the hall and said what? He said look at this huge tumor in your foot. It must come out right away. So two days later with two children under two I had foot surgery. When he went in, there was no tumor. There was just a hole where bone once was. He took a little bone marrow (there was hardly any) and sent it to the Air Force Institute Of Pathology. They made the the discovery of this disease. It has been so very hard and I have been everywhere -- no help. Just last week I went to the University Of Washington where there was a doctor who had a man with this disease. Turns out he just wants to watch the progression...... UPDATE REGARDING SUBSEQUENT SURGERY (6/29/2002) I had my surgery on 6-29-2002. The tumor was behind my left knee and as big as the doctor's fist. It took almost four hours to get it out. I have a 14 inch incision down my leg and behind my knee. From the moment I woke up, I knew it was gone. All the pressure is off my knee and I am beginning to heal. Yes, the pain is bad but every day I am stronger. My doctor is Dr. Conrad, Head of the Bone and Joint Center of the University Hospital in Seattle, Washington. He is a very good doctor and the hospital is also good. He has never seen anything like this and said it was a tough operation. I go back on Friday July 5th to get the findings of the tumor. This was a hard surgery but I would do it again. July 8, 2002: I had the stitches removed on 7-5-2002. I am doing very well. I am still in some pain but I am walking very well. My tumor was made of some soft tissue but mostly of bone. I will have new films done in Sept. this year. This will show any permanent damage to the knee. I still have quite a bit of numbness from the knee down to my foot. Doctors are hopeful the feeling will return. Comments/Suggestions : I am so happy to have found this site. I have been dealing with this since 1983. I think sometimes feeling all alone was one of the hardest parts. Now I feel like maybe there is hope. |
| Jama | M | 2001 | Chatttanooga | TN | USA | Right foot | My name is Jama and I was diagnosed with melorheostosis in my right foot about a year ago. I have been to several doctors and no one is able to treat this. I have a bad limp because of the pain in my foot and I recently broke a bone in my foot just by walking on it. Lately I have been having problems with my back and right hip which could be from the way I am having to walk. At times my foot swells up and the pain is sometimes unbearable but there is nothing I can do but take pain medication and something for inflammation but no matter what I do it only gets worse over time. If anyone has any information that could help please write me. |
| Andrea | 2001 | Riviera Beach | FL | USA | Right hip | Twenty-one years ago I had surgery to repair a broken hip. I did not experience any problem until recently. The hip was aching and stiff and I consulted a physician in my area and by the x-ray it was revealed that I had this rare condition. | |
| Linda | 2001 | Florence | KY | USA | Right hip , entire right leg and foot | At age 17, I was diagnosed with melorheostosis after suffering with leg pain my entire life. I was told I had growing pains and arthritis. At 17 I was finally x-rayed. My parents were told of the condition and that little or nothing was known about it. At age 21, a fairly famous Cincinnati doctor wanted to operate to remove the large calcium deposit on the latter portion of my hip. When in surgery he found that the deposit was attached to my spine, at that time he scrapped the femur to hopefully relieve some of the vascular pressure and closed me up. I was told that 7 drill bits were broken in the process of drilling burr holes in my femur. In the past 27 years since my only surgery the only treatment I have received are anti-inflammatory medications (Vioxx at present time) which I feel do help some. My main source is the right hip which is so blocked with the calcium that I cannot tie my own shoe or put on socks or stockings. The way I have limped for so many years has really affected my feet, knee and ankles. The pain is sometimes almost unbearable. I was shocked tonight when looking for an orthopedic doctor hopefully with some new knowledge, that I found this website. My entire life I have wished to find someone else with this strange disease, to compare notes and maybe find help. I would appreciate talking with someone like me, someone who understands. Sincerely looking for help. Thanks. Comments/Suggestions: I am grateful to find out there are other people with this rare disease. Hopefully someone somewhere will find help for us. I wish a physician would join the discussion. |
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| Lisa | 2001 | St. Louis | MO | USA | bone between the wrist and elbow, closer to the elbow, in left hand | I am 39 years old and I have had this bump on my arm for probably about 10 years now. But, over the years it has grown, not only larger on the main bump, but is also growing down my arm like a candle drips wax down its sides. My left hand has started to go numb a lot in the past 6 months so I went to an orthopedic surgeon, who by the way, told me I have stumped the medical profession, because he had never seen anything like this before. I got scared. I am going for an upper bone scan and an MRI next week because he sent my x-rays to a specialist and melorheostosis is the disorder he came up with. So I don't have a lot more to tell right now, except when I asked if I could get this thing off of my arm he said yes and that they would probably have to shave it off but his concern is that my arm will be weak and could break easily for a while after surgery. Anyway, I'll keep in touch, probably won't know anything for about 2 weeks. Take care to all and it's nice to know there are others to talk to. Pay it forward ! |
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| Monica (Parent- Lyn) | 2001 | St. Louis | MO | bilateral, upper extremities | I am the mother of a 3-year old girl, Monica, who was diagnosed with melorheostosis approximately a year-and-a-half ago. Monica is our seventh child. We are "older" parents (I will be 47 in March), and with the exception of one child who died in utero, our six other children have been pretty healthy. When Monica was 4 days old, we noticed that one of her fingers on her right hand was contracted and twisted. Because newborns tend to keep their fists clenched, neither I nor anyone at the hospital had noticed. I took Monica to her pediatrician who thought that perhaps she had broken her finger during vaginal delivery. We had x-rays done, but they showed nothing abnormal. (In looking back, the x-rays at this early age would probably not have been helpful since they do not show much calcification or the bony structure one sees in later maturity.) But something was definitely not right. Over the next few months, other fingers began to show characteristics of problems. Her (right "ring"-- fourth) finger that was contracted got much worse and grew sideways over the finger next to it. Her index finger on her left hand did not grow in proportion to her other fingers and became hyperextended (bent backwards) and rigid. It also was very thick around its base. Her entire arm seemed sluggish,and her right side was obviously weak. Her chest became concave. Needless to say, we were scared to death. We took her to an orthopod at approximately 6 months of age who x-rayed her hands and arms and could find nothing amiss. Hoever, he did find severe dysplasia of the hips and said she might have to undergo corrective surgery for this if the problem did not self-correct. (Later x-rays done at approximately 17 months of age showed no evidence of this problem so the problem obviously self-corrected.) We also took her to a nuerologist due to the obvious weakness in her right side (by six months, she could not roll over). He found nothing in the way of a diagnosable neurological condition, but ordered occupational therapy to strengthen her right side. The occupational therapist helped Monica develop her strength and educated me on hand and arm deformities/problems. She was very concerned about Monica, and said she had nevery seen such an array of different hand deformities: deviated wrists, hyperextended fingers, boutinere deformities, swan-neck deformities (the latter two are when the fingers either curve in or out at the mid or top knuckle), a lazy thumb on the left hand, a shortened finger on the left hand: a virtual garden of deformities! Armed with the information that the occupational therapist had given me, we took Monica back to the pediatrician and told him that we had to get to the bottom of what was causing her deformities. He sent me back to the orthopod who took another x-ray of Monica's hands and arms (by now, she was about a 14 months old). This time, the x-rays revealed calcium streaks and the hyperostosis (thick bone growth) that characterizes melorheostosis. However, the orthopod had no idea what was causing this because he had never seen an x-ray quite like it. When six weeks had gone by, and we still had no word from this doctor, we took Monica back to the pediatrician and demanded that we see someone who could tell us what we were dealing with. He referred us to Children's Hospital in St. Louis (which is where we live). A radiologist who is quite well known on a national basis--Dr. Bill McCallister-- made the diagnosis immediately after reviewing the films. However, since melorheostosis is so rare, and since it had never been diagnosed locally in anyone as young as Monica, he had three other radiologists look at the film and give their own independent diagnoses. The unanimous consensus/diagnosis was bilateral melorheostosis of the upper extremities. The skeletal survey done on Monica revealed melorheostosis in the left scapula, the left proximal humeral epiphysis, the left distal humerus, the left proximal ulna, the right distal humerus and right proximal ulna. (Medical terms for various bones in the shoulders, arms, and wrists.) In addition, the right and left hands were extensively affected, with the most severe involvement in the second, third, fourth and fifth fingers of her left hand and the third and fourth of her right hand. There is associated soft tissue deformity, with the fourth finger crossing over the third on the right hand and the second finger on her left hand rigid, and basically unable to move. Subsequently, we were referred to Shriner Hospital in St. Louis where the hand surgeon suggested osteotomies on the third and fourth fingers of Monica's right hand. We did not fully accept the surgeon's recommendation because we felt that he and his staff were unreceptive to our questions and input. Specifically, I was concerned about research showing that surgery on children with melorheostosis has a history of poor outcomes. I was particularly concerned about the need for a repeat of surgery due to the high recurrence of soft tissue deformity. We decided to seek a second opinion. This past June, my husband and I went to Mayo's Clinic in Rochester, Minn. We saw two doctors there: Dr. Anthony Stans, an orthopod who has seen or is seeking 5 other children with melorheostosis, and Dr. Julia Katarincic, a hand surgeon. Their opinion was that Monica did need surgery within the year on both hands: osteotomies on two of her fingers on the right hand and an osteotomy on her left index finger. They also recommended an MRI of Monica's left hand because she has a palpable mass (thickness) in the palm below her left index finger which is the same one that is rigid and paralyzed. They also told us that they are sure that the surgery will need to be repeated since soft tissue deformity recurrence is part of the disease, especially in children. Therefore, they said it would be okay for us to wait about one more year before having the surgery done since Monica will undoubtedly have to undergo it a second time. Unfortunately, our insurance would not allow us to have the surgery at Mayo's. We went ahead and had an MRI done on both of Monica's hands in September of this past year. The "mass" in Monica's hand is not a tumor, but simply a thick overgrowth of tissue. (The doctors had wanted to rule out the possibility of a desmoid tumor, even though such tumors are not likely to be found in the hand. Desmoid tumors are associated with melorheostosis, and although benign can apparently be aggressive.) At this point, we have found a new hand surgeon in St. Louis, Dr. Mitch Rotman of Cardinal Glennon Children's Hospital, who is wonderful insofar as he is willing to listen to our input and do research with us on melorheostosis. In late spring or early summer, Monica will undergo her first surgery-- an osteotomy on her left index finger. We will take one hand at a time so that she can have the use of her other while recovering. Also, we thought that it made sense to start on one finger and see how it did following surgery, with the idea that perhaps this would give us a clue as to how Monica's bones will heal. As is typical of melorheostosis in children, Monica is in no pain, although if you saw her crooked and twisted fingers, you would swear that she had to be. However, we are fully aware that pain, often beginning in the pre-adolescent years, is part of this disease. In sharing our experience, we are prayerful that others will be motivated to talk about theirs and possibly, we can someday interest researchers to pursue further study of this disease. We believe that the hope of a "cure" or "treatment" of this disease lies in finding its pathogenesis and the genetics that govern it. We also believe that, despite the fact that melorheostosis is classified as extremely rare, there are more people out there that have it than the literature would lead one to believe. The only way we can find out is by sharing our experiences with one another and spreading the word of this website. We are thrilled and very excited that the site is being launched and hope that it will attract the attention of melorheostosis sufferers, doctors and researchers. |
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| Wilbur | P | 2001 | Wyoming | MN | USA | Right leg, pelvis and spine | Disease first noticed about age eight, because the right leg looked different from left leg. By age eighteen, the deformity was very obvious, and was painful. Disease was diagnosed by a physician when the Military sent a draft notice at age eighteen. That notice exempted me from military service. The leg is narrower when looking at it from the front, and it is wide looking from the side, and curved because of the chord not growing after natural height was attained. The leg is several inches longer than the other. As the disease progressed the ankle, knee, and hip joints became arthritic, and the knee and ankle large. I have very limited mobility in the knee and ankle now. I cannot bend either joint. The hip is less affected. In 1980, I had the first of many severe arthritic like attacks, that are so terribly painful I cannot get out of bed or move from any position for one week. What sets these attacks off we do not know. Of course I have seen many doctors, and only two have even seen a case of this disease.I was at the University of MN, in the early 80's. They tried calcitonin injections, which did no good at all. No doctor has been able to treat me other than to give me pain killers in combination with flexeril to ease the pain during an attack. Sometimes the attack starts in one joint, and moves on to another. The pain is terrible, and the addition of the muscle relaxer seems to be the best way to control the pain during an attack. The only medication I take is Feldene in a 20MG dose once a day. I have taken that for many years. After that initial attack in 1980 I had to retire from work. I am not wheelchair bound, although it may come to that. Walking is difficult, and I can't reach my foot to put on stockings or wash it. I use a sock assister. No surgeries were ever attempted, other than to remove a calcium deposit over the knee cap, and just last week to surgically remove a pressure leg ulcer that refused to heal on the outside of the leg just above the ankle. The University of MN orthopedic department, several other orthopedic surgeons, and at this time Dr Leo Pena an Internal Medicine doctor at Fairview Lakes Medical Center at Wyoming MN,and Dr Jefrey Ley Orthopadic Surgeon. Other than the Melorheostosis, I am in good health. |
| Rachel (Parents- Cindy and Jeff) | W | 2001 | Swannanoa | NC | USA | Right big toe and surrounding area, some spots in right knee, and pelvis. | Like most of the parents at this site I always thought something was not right with her right foot since birth, but was not really noticeable to anyone else. At 2 months her pediatrician did think there was a size difference in her right leg and knee and we were referred to an ortho. dr., who did not see anything and did not even x-ray. She walked at 11 months and was very active and did not appear to be in any pain. When she was 2 and was running on the beach her grandfather noticed she was using the side of her foot to run and walk. We took her to a check up with our family dr. and he dismissed the problem. Because of her now very clear deformity and such a hard inflexible toe she quite frequently got infections on the toe from the rubbing. We happened to see a different dr. on call in treating one of these infections and he was very adamant that there was something wrong and referred us to another ortho. dr. As a lot of you know the ortho. dr. saw the x-rays and said he didn't know what it was, he had never seen this before (the waxing look on the foot bone) and he didn't think it was cancer, but...After he discussed this with two other drs. he suggested it might be melorheostosis. We were referred to Duke University, but insurance declined the visit because there was no diagnosis and there were ortho. drs. in our area. We then pursued the Shriners Hospital in Greenville, SC. where she was diagnosed and asked to come back for yearly visits, but no other help. Since then a pediatric ortho. dr. has come to our area whom we can call for treatment of some of the problems associated with her foot ie: pain, infections, watching possible progression, etc. We are continuing yearly visits with him. What a relief to see others struggle with the same issues we do. I have heard of adults with this condition, but not children. So glad to know we are not alone. |
| Guy | 2001 | Dallas | TX | USA | Knee, big toe | My name is Guy, I am 50 years old. I was originally diagnosed with Melorheostosis in my left knee and foot in 1992 at the Veterans Hospital in Dallas TX. They removed 3 large nodes from the back of my knee and one node that was on the ball of my left big toe and from these specimens they used as a biopsy to determine my diagnosis. After they removed the nodes from the back of my knee my bending of that knee still remained at about 10 degrees since then I had x-rays done approximately 1 year ago that revealed that the condition had not only grown back but had worsened. I cannot find an orthopedic surgeon that knows anything about this disease (much less able to spell it) and so consequently I am under the care of a doctor of internal medicine that does no more than prescribe pain pills. I have gone through physical therapy that does no more than aggravate the condition. Over the years I have become extremely frustrated and angry at the medical profession. recently starting last year the joints in my body have become so painful that I would not even be able to get out of bed without my pain medication and my left hand has become deformed, and except for a slight bending of the fingers, my hand and wrist have become non-functional and the doctors are calling this advanced arthritis. I can only sleep on my side, and I can only be on one side or the other for about 1/2 hour before the pain wakes me up and I have to roll over, which is not an easy thing do. Because I am on SSI (Medicaid) I cannot find a reputable doctor to take an interest in my case. This is only a capsulation, I do have some information and helpful therapy techniques that do help, that I am willing to share with anybody. | |
| Paul | 2001 | Melbourne | AUSTRALIA | Right femur and tibia | My history basically is that for a long time I've had a lump on my shin which I thought was only an old sporting injury of no concern. My wife has been at me to get it checked out as it seems to be getting bigger/changing in appearance. I had x-rays and bone scans over the last two days and was shocked with further findings of the condition in my femur as well as the tibia and which has subsequently been diagnosed as melorheostosis. I would appreciate it if you could provide some information that may help me understand this a little more. | ||
| Yuriy | G | 2001 | Berwyn | IL | USA | Right arm and wrist | Have this problem since 1978 until this day. Had 9 surgeries done at University of Illinois in Chicago. No real treatment until this day. Surgeon's name is Dr. Boonmee who operated on me and there is still no solution for this problem. Added information: All of nine surgeries were to remove that so called wax that is growing on the bone, to clean the bone from it and to release the nerves and vessels that were being blocked. During one of those operations he touched the nerve and there is numbness in the pinky finger. Probably going to have other surgery because it all growing back and more pain occurs. It all started in my last years of high school, my classmates were making fun of crocked pinky finger, but at that time I didn't suspect anything. As the years went on it started to cause pain and when to the doctors in Ukraine, this is where I am from, the only solution they gave me is to cut the arm off, because nobody knew what it is. Dr. Boonmee actually established the diagnosis, but when I when to Germany he took the sample and to determine if it was cancer--it wasn't. Then they gave me some description for disease. |
| Bob | 2001 | WV | USA | Left foot | |||
| Hannah (Parent- Debbie) | 2001 | Dothen | AL | USA | Deformities thus far have only been in her left hand/wrist. Her pointer finger is pulling into the thumb. She is unable to bend her wrist, nor can she rotate the wrist. Hot spots are in both arms up to her shoulders and both legs. | Personal History: I knew that Hannah's left hand looked different at birth. No doctors or other family members noticed anything wrong with it. Though I was considered a frantic first time mother, I was sent to a hand specialist in Dothan. The doctor (Dr. Feagan) told me that less than one in a million babies are born with tumors in the hand and for us to come back in six months. When we went back he said that it was definitely a tumor and for us to just wait to see what it would do. We did not like his attitude and he did not want to refer us to another doctor. I finally took her to the Children's Hospital in Birmingham to Dr. John T. Killian. Exploratory surgery was done and an intern diagnosed it as Melorheostosis. Dr. Killian later performed a tendon release and deformity has since reoccurred. He discouraged anything that I did to learn more about the disease. He was wanted to do a third surgery on her hand and I had learned enough to know that surgery should be put off as long as possible! After paying someone to do a medical search off the internet, I found the name of a recommended Pediatric Bone Doctor in Atlanta, Georgia. Dr. Raymond T. Morissee. He is super!! He encourages my interest in finding out all that I could, stating that we would be a both a better patient and Mom because we would have a better understanding of the disease. He referred us to an older doctor that had seen this disease in another patient; Dr. Louie Bayne, at Scottish Rite also in Atlanta, Georgia. He uses great caution when talking about another surgery. He thinks that if we do surgery on the hand right now, she had a chance of losing total use of it. Other comments: Both Hannah and I are excited about sharing information and experiences with others. She recently found out that there was another child her age that also has Melorheostosis. She stated that she thought she was the only kid that God had done this to and actually was happy to know it! Maybe, together we can all be a support to one another and encourage doctors to do more research on Melorheostosis. |
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| Kristie | H | 2001 | Delight | AR | USA | Left foot- 5th metatarsal | I have already had surgery once, when I was 27. The surgeon removed bone and cartilage tumors from the 5th metatarsal and from the base of the heel. The tumors were benign. It has been 4 years now and they have grown back and I consulted a new doctor and he is researching it now. He stated that he would probably have to remove the 5th metatarsal. |
| Alice | A | 2001 | Lansing | MI | USA | Left arm and shoulder (melorheostosis and osteopoikilosis) | Oh, where to start??? I am 46, have melorheostosis and osteopoikilosis. There was a paper written about me and my brother and sisters by Butkus and Cooney in about 1997. My parents do not have either disorder. My brother and two sisters all have osteopoikilosis. I have both conditions. My birth defect is in my left arm and shoulder. It was not even noticed that anything was wrong with me until I was 6 months old. My grandpa kept telling my mom that my hand wasn't right. The length of my upper arms are the same, but my left forearm is shorter than the right. My hand looks ok, except I have what they call a hypo-plastic thumb (it looks more like a big toe). I cannot rotate my wrist upwards, and I cannot fluctuate my hand higher than being level with my forearm. I also have contractures--at the elbow (this makes it so I cannot extend my arm out straight), and on the under-side of my wrist (my wrist pulls down). Aside from all that I have had 5 childhood surgeries and, I think, 6 adult surgeries due to complications with carpel tunnel syndrome. Aside from my birth defect and my surgeries, I am perfectly normal and have led a perfectly normal life. I have 3 children--none of whom have either condition. I am married, I have worked at Michigan State Univ. for the past 28 years. Everything is normal. I used to golf, but I haven't tried that since the last couple of surgeries. I probably can, but just haven't. I do all kinds of crafts--knitting, crocheting, crewel, embroidery--you name it. I help my husband on the farm--bailing and stacking hay, feeding the cows, shoveling manure. I enjoy these things, but they also give me strength. Unbelievably, I am quite strong even in my left arm. I just can't twist around like most can. I think you get the picture. This disability has not limited me in the least. In fact, I believe it has helped me become 'more' because I've had to overcome difficulties that others do not even face. Comments and Suggestions: Now, what should I tell you? My childhood was hard. Times were different then, but based on how my children are, I guess the kids haven't changed much. Be very careful about limiting your child's activities. It is very important that you encourage him or her to do everything that they are interested in. Fortunately, I had a good childhood doctor. Once I got to be about 12, he told me and my parents that I either had to learn how to play the piano or type. I chose typing. That was what I started out doing when I got out of high school. Now I'm a senior level admin. asst. I still type, but not as much. In reality, I couldn't type like I used to because of my condition. (My arm bothers me if I type a lot.) Anyways, let your child choose his/her limitations. Let him/her explore how they can do something that you may think they shouldn't. Believe me, if they can't do it or if it hurts, they will quit on their own. If at all possible, encourage your children to do things by themselves and to improvise. You be the judge of how your child is holding up in his/her activity--do not rely on the doctor to make this decision in its entirety. You are the parent. You know your child the best. Ultimately, I think as parents, we know what is best and can make the best decision... The other thing I want to say is, by all means, do whatever you have to to get the best medical help. The best place to go is Mayo for a difficult surgery. Dr. Cooney or Dr. Katarinac (or however you say her name) are top notch--the best. Do not let someone do surgery that has no experience with this condition. Trust me, you will have problems later. Trusting the wrong surgeon cost me at least 3 adult surgeries--extensive, difficult surgeries. I won't go into all of that here, but please do get the very best help. Be aggressive, challenge your insurance company if they won't allow it. After all, why do you have insurance? Answer: You have insurance to cover situations like this. Of course, they don't want to pay. It is their obligation, however, to do so. (enough said!) Also, check into state or government funding--maybe your child would be eligible for SSI through social security. The bottom line is: Do whatever you have to in order to get the best care. You simply cannot afford to mess around with well-meaning, but unknowledgeable doctors in relation to this condition. There is a Dr. Jeffrey King who I now go to at the Univ. of Michigan. He was with Dr. Cooney at Mayo for awhile, and he has written papers about this condition, and has a personal research interest in this condition. He is a really good doctor. (Dr. Cooney even told me so!) I think I've probably gone on long enough. If anyone has questions for me, please feel free. I will help you and your child in any way I can. Good luck. I close by sending you all my warmest regards... |
| Jo | 2001 | Watonville | CA | USA | Both legs and right upper arm | I was diagnosed October 2000 after pain in left leg. It has been very difficult finding a doctor that knows anything about melorheostosis. Currently I am seeing a doctor that specializes in arthritis. She thinks that possibly my pain is from arthritis rather than melorheostosis. My question to anyone that has been diagnosed with melorheostosis is: what seems to trigger the pain? I'm coming to the conclusion that either doing too much and/or getting the affected limb cold. I'm very eager to hear from everyone with this disease. | |
| Dayne (Parent- Carla) | 2001 | Winston | GA | USA | All of right side upper and lower | Have seen several doctors, but are not helpful and lack of information of treatments of the disease. I will be more than happy to talk or share with anyone that is serious about helping my son. |
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| Mishka | 2001 | Madison | WI | USA | Left leg upper and lower | ||
| James | 2010 | Albaline | TX | USA | Left foot | Symptoms: stiffness, pain Diagnosis: developed symptoms in 2000 at 30 years of age; diagnosed in 2002 by x-rays. Treatment: I have not had any treatment on my hand. When it does hurt upon occasion I usually take Ibuprofen. Background: Discovered (!) a bump on the middle finger of my right hand around 2000 (age 30). Thought nothing of it initially. Thought it was a bruise or other accident related bump. After a few weeks, when it hadn't gone away, I became concerned. At this point my whole right hand would feel tired when I woke up, but the tiredness would pass later in the day (perhaps the hot shower soothed it!). It took me over a year to finally see a "Specialist," he was a Sports Doctor if I recall correctly. He x-rayed it and then forgot to give me the diagnosis. So it took another year to finally track down what the diagnosis was from the hospital archives in UCSF Medical Hospital! By then I had married a Radiologist who looked at it for me and also looked at my UCSF X-Rays and gave me a diagnosis. Both my (mainly) middle finger and hand tendons had a coating of melted wax like bone residue and this appeared as a white concentrated area in the X-Ray. I have noticed a weakening in my right hand in the last few years. (Shaking hands in Germany is a painful experience as here the firmer the shake the more 'manly' you are. That's all fine and dandy, but I thought I was becoming a woos as my hand would ache/hurt after every handshake, until I realized perhaps it was due to the Melorheostosis!) Now I have begun to notice that my wrist (right hand) is also starting to hurt on the left side, when I put any pressure on it. I hope this is not related as it is still a new pain, but I had an X-Ray done this morning and my wife tells me that my fingers and hand look the same as the last X-Ray (in 2000, but that was not as far down as the wrist), but a concentration of bone is showing in the pained wrist area. So now I'm becoming concerned again. Comments: I am really glad to have discovered this website. I was told that this is a rare condition and not many doctors come across it or know how to treat it. Reading some of the other Personal Histories it is sad to know that other people have a far more extensive condition than mine and yet very little is known about dealing with this condition or offering an effective treatment. Any advice regarding symptom relief and treatments available would be greatly appreciated. |
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| Chloe (Parents- Sammie and Neil | 2010 | Cambridge | UNITED KINGDOM | Wrist, shoulders, fingers neck and back | |||
| Mike | G | 2010 | ON | CANADA | Right femur | Leg began to hurt at 10 years of age. It came and went with different degrees of pain, sometimes so intense I would fall down. First doctor's diagnosis was hematoma. Then it became very bad (severe pain/began to favor left leg so much that lost an inch in diameter in right leg over next few months). At 14 years of age second diagnosis was calcium deposit from severe blow that could not be removed due to size. This repeated itself at age 19 when I began physiotherapy. Same diagnosis of calcium deposit from severe blow. It did get a little better but same result at 27 when I saw Dr. Webber who took bone scan and was not sure himself what he saw (look of candle wax dripping); consulted another doctor who found Melorheostosis in archives. Treatment: take whatever pills you were taking before diagnosis, which is Advil, that I take almost every night. | |
| Benjamin | 2010 | Fox Island | WA | USA | Left foot and left hand | ||
| Noralva | 2010 | Minneapolis | MN | USA | Right hand | All my life the thumb on my right hand was different. I couldn't use the guitar picks that slid over the thumb because they didn't fit, but since it didn't seem to hurt I never thought about. My thumb nail was misshapen and my right thumb didn't seem to have the same range of motion as my left. But since I could still do a lot of things and it didn't hurt, I didn't really think it was a problem. About six months ago my right palm started to get very red and swollen. I had thought that maybe I had grown a callus from using the computer too much (my job requires that I use a computer all day). Then I noticed that my thumb was also getting a weird shape and that both areas had a lumpy look to them and were red in color. I then noticed that my index, middle and ring fingers on my right hand would become numb if I drove, held the phone too long or when I was painting. I also noted that I would get a sharp pain that felt like a tooth ache during the day. I then went to my primary care physician to find out what could be happening. She referred me to a hand surgeon, who had x-rays and an MRI done. The hand surgeon also wanted to do a biopsy to see if the growing tissue was cancerous. So she did biopsy of my palm and my thumb pad--one of the worst and most painful procedures of my life. All three tests (x-ray, MRI and biopsy) came to the conclusion of a diagnosis of possible Melorheostosis. I then set up an appointment with the Mayo Clinic in Rochester. The physician there was able to give me a diagnosis of Melorheostosis and said that since the disease was very rare, that we couldn't come up with a care plan, but that I should follow up with him every 2 years. He also stated that I shouldn't have any surgery done without consulting him. This was a great relief to me since the original hand surgeon only had surgery as the possible option for my condition. The hand surgeon's care plan was to remove the tissue of my hand as it grew, which I did not look forward to. It was wonderful to have a doctor that actually knew the disease and we could discuss what could be done in the future. Currently I am still having trouble with using my hand. It seems to hurt more at night when I try to sleep and I find myself not using it as much during the day- which is a problem. The tissue seems to be growing, and I am not sure why all of this would start at this stage of my life. I try to take over the counter medications to help with the pain, but the whole thing seems to be inducing an old injury to my neck to flare up (I think this is stress related). As of now I am observing the changes in my hand and when it becomes too difficult, I will follow up with the doctor at Mayo. Comments: I am an artist and musician in my free time. I plan on continuing to paint and this diagnosis has spurred me to want to take portrait painting classes in order to enhance my skills. I also play guitar with my husband and now I have purchased a bass guitar so that I don't have the problem of holding a pick when I play. I went to the last Melorheostosis conference and the other patients gave me a lot of hope. One thing I learned was that some of the patients didn't let the disease slow them down. This is how I plan to work with this diagnosis- no matter what, I plan on painting and playing music as much as I can. |
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| Julie Anne | 2010 | Calgary | Alberta | CANADA | Right femur and tibia and possibly right foot | In my early 20s I had a period of extreme pain in my right hip and went for bone scans and x-rays etc. It was determined that all was Ok, but I was asked at the time if I had broken my right leg (femur) when I was younger. The answer is no, but had a car accident where I had hit my knee quite badly and the orthopedic surgeon felt that it just had been a green fracture and healed itself. All got better and the pain in walking went away. Over 20 years later, in February 2010 I found a small hard lump in my inner right thigh that had not been there before. I was sent for ultrasound, which led to x-rays, which led to more x-rays, as they found the abnormality in my femur and were concerned that the lump was associated to the bone malformation. I was then sent to an orthopedic oncologist and after CTs, MRIs, biopsies, the final diagnosis is melorheostosis which has caused a desmoid tumour (11 cm in diameter) that has been growing in my right inner thigh. The bone condition for me is secondary as until I had the tumor I didn't really have any associated pain. The tumor is growing, and currently I am taking Celebrex, and possibly they will be putting me on tamoxofen to try and reduce the size of the tumor as it is quite painful when walking and painful to touch. If that doesn't reduce the size or control the discomfort, the next course of action would be low grade radiation. The last resort is surgery, as trying to remove it now would mean I would lose a great amount of muscle with it as it has little fingers into the surrounding muscle tissue. Comments: While knowing the condition is not life threatening and that the tumor is benign has relieved our family greatly, the treating of the resulting tumor as a cancerous one is a bit daunting. I have good days and bad days, and hopefully in a few months we will see some positive results. All I can say is I have wonderful team of doctors and support staff and we will have to take one day at a time. Sincerely, Julie Anne |
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| Paul | 2010 | Howell | MI | USA | Left ankle | My name is Paul, I am 45 years old and live in Howell Michigan. The area affected on me is my left ankle. I have had a full body scan and there is no other area affected, thank God. This is such a painful thing and I pray they find cure. |
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| Marlene | 2010 | Pittsburgh | PA | USA | Left Foot | It was diagnosed a while back in the 70’s. I dropped a can on my foot, so I went to a foot specialist and he gave me cortisone shots and boy did that hurt. I called him and told him the shots made it worse. He took x-rays and immediately sent me to a surgeon. They sent me to another specialist and he did a biopsy and told me it was Melorheostosis and the only cure was to amputate part of my foot or to live with the pain. He told me that some day I will have to have it done because the pain will be too unbearable and it sure is now. The bone sticks up pretty far on my foot and the bone feels like it wants to jump out of my foot. It is very painful. I was never given any medications, although the doctor said if you want to end it all, just take Tylenol. (That’s when they had the poison in the Tylenol.) I never went back to that doctor ever again, I haven’t had it checked out or anything lately. It has gotten worse and I don’t know who to go to regarding this. I was told that it is like a piece of chalk and can break at any time. I worry so much that it can spread but I just take my chances. I am having hip problems and I worry about it being in my hips, but I just pray that it isn’t. I don’t feel any lumps on my left hip. This is a horrible disease and I was told it came from a common cold that settled in my foot. |
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| Catrina | 2010 | Noble | MO | USA | Right shoulder, arm, wrist and hand | My mother noticed something was different with my right thumb when I first started trying to write. My thumb was shorter and "fat" in appearance. She said it was hard for me to hold those big pencils I learned to write with. It didn't hurt me at the time so we never thought much more about it. About the time I was 12 or 13 I started having a lot of pain. I was waking up througout the night with pain, numbness, and tingling. I would have to sit up or hang my arm over the bed in order to get the circulation flowing. I was diagnosed at age 13 by Arkansas Children's Hospital in 1995. I felt like a lab rat, XR after XR. It was so rare and new to all the doctors. All they could do was experiment with different things and hope for the best. I tried different anti-inflammatories, braces, ROM exercises. I'm sorry to say none of these worked. The pain comes and goes. Unfortunately it's there more than it isn't. Thoughout the years, my ROM has decreased and I've just recently had a bone scan showing progression. I take pain medicine sometimes and that will help some, but there are times when it just has to go away on its own. Sometimes it seems as if nothing will work. I have noticed the weather plays a huge part in the pain. When it is cold I will ache more. I will use a heating pad and that seems to relax the tension. I have not had any surgeries but can see it as a possibility in the future. I feel lucky to still have partial use of my right hand and arm. I feel as though I function well on a daily bases and try to do the best I can with what I have. I have read many personal histories and my heart goes out to each and every one. |
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| Chad | 2010 | Denver | CO | USA | Right leg (knee to foot) | Personal History: I was diagnosed with Melo yesterday (3-18-2010). I had previously been diagnosed in 2007 with it by a doctor in Glenwood Springs, CO when I had some pains in my right knee followed by limited movement (snowboarding injury, showed cartilage damage in the x-ray and MRI). They picked the Melo up off of the x-ray and recommended me to an orthopedic surgeon in Denver. I met the doctor in Denver and almost immediately said there was no way I had Melo. So feeling a little better about the situation I returned to Glenwood. I followed up with the same Glenwood doctor a few months after that for ankle pains (also a sports injury) x-rays were taken but focused closely on the foot and ankle so the leg bone wasn't shown. After a few years I moved to Denver and found that it had become more and more painful to walk on my ankle, so I went back to the same office in Denver that met with me about Melo (but this time a different doctor). He took x-rays and immediately said Melo. A week later I had an MRI, which was reviewed by 5 doctors and a radiologist, all confirmed Melo. I would like to get some response from some local people effected by Melo and get some recommendations of doctors or specialists that they are dealing with or have dealt with. That's where my search is focused right now. When I find a doctor with the proper experience I would like to get a full body x-ray to see if Melo is present anywhere else in my body. Thanks for operating this site, it has been very helpful and informative! CHAD |
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| Karen | 2010 | Kenosha | WI | USA | Pelvic area | My name is Karen Peterson, 55 years old. I live in Kenosha WI. As a child x-rays showed Melorheostosis in my pelvic area. I have had no symptoms until recently. After a fall in June of 2009, I started having pain in my tailbone. I saw a doctor, but did not have x-rays at the time. The pain didn't go away over time. So, I returned to the doctor in Jan. 2010. So, after having x-rays, CT scan, and bone scan, I have been diagnosed with Melo. No one in this area treats Melo. I'm currently waiting for a referral to an Orthopedic Surgeon at Froedert Hospital in Milwaukee, WI. |
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| Brittany | 2010 | Chandler | AZ | USA | Left femur | When I was a senior in high school is when I started to notice some minor pain in my knee and hip of my left leg. It never occurred to me that anything was wrong because I was fairly active with school and put it off to “over doing,” but as the years passed the pain got worse. I had x-rays done in 2007 but they had said nothing was wrong. As frustrating as it was to hear that, there was nothing I could do. So I kept dealing with the pain I was feeling every day and night. Eventually the pain became over bearing and I again went to my family doctor, James Harris. He in turn sent me to an orthopedic specialist Dr. Danton Dungy. It was there that they did another set of x-rays and noticed something was wrong with my left femur. He told me he was going to send me for an MRI and CT to help determine diagnosis. I learned that my left femur was beginning to bow outward and that I had an abnormal growth to my bone on the inside of my thigh reaching into my knee. After we got the scans back was when I was diagnosed with Melorheostosis on May 7, 2009. They referred me to the Mayo Clinic here in Scottsdale where I met with Dr. Beauchamp who ordered a bone scan to make sure that indeed was the correct diagnosis and to check the rest of my body for any other signs of this disease. He told me that there was no cure and that the only treatment that he saw fit was pain management. So for the last 10 months I have been to a few different pain doctors who have had me on more pain medications than I have ever been on in my life, but as time has still gone on of course the pain has become extensively worse. I am now on Oxycodone 15mg, 4 pills a day, every 6 hours. When I changed pain specialists at the beginning of this year, I went to Dr. Minesh Zaveri. He has continued my pain management with the medication, but in February of 2010, I had a trial procedure done with a spinal cord stimulator. For those 4 days I was almost pain free with a 90% reduction in the pain I felt in my left femur. I am now awaiting to go under the permanent procedure of a Spinal Cord Stimulator in the next few months. That trial procedure showed me that there was hope for some pain relief in my body and for the future. I highly recommend to discuss if this might be an option for anyone who has severe pain that pain medications just aren’t helping. It might bring the relief you are searching for. | |
| Donia | 2010 | Fayetteville | NC | USA | Right foot | I started feeling pain in my right foot under the ankle bone. The pain started the end of 2004. The first time I saw a doctor for my foot, he told me to stay off my foot that there was nothing wrong and take an Ibuprofen for the swelling and pain. I wasn't happy with the the answer so I went to another doctor for a second opinion. The second doctor had me take an x-ray and found that there was definitely something going on. I was referred to the Orthopedics Department on base. I was then told it was a bone lesion and I had surgery in 2005 to remove it. It did relieve the pain for about 2 years. The bone eventually grew back but this time even bigger and caused even more discomfort. I was then referred to UNC Chapel Hill with a diagnosis of an osteoma. After many x-rays, MRI, bone scans, and CT scans I was then diagnosed with Melorheostosis on my calcaneal and cuboid bone with a torn tendon and arthritis. I was told either I can have surgery again but it might not alleviate the pain and it might grow back and be even more painful. I'm back to square one with even more pain constantly and even more confused on what to do next? I'm unable to stand for long periods of time without feeling a lot of pressure on my ankle. If I step wrong on even a small pebble I get shooting pain. The doctors basically tell me that there is nothing they can do. I don't want to live on pain pills the rest of my life and unable to walk. |
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| Corey | 2010 | Spring Valley | CA | USA | Long bone of right arm | For several years prior to initially being diagnosed in 2006, I was having frequent pain in my right arm/shoulder area. I always put up with the pain and moving on. In 2006, my job was to enter data into a computer and utilize many dispatcher office equipment. At this time, my right wrist was experiencing pain similar to Carpal Tunnel Syndrome so I went to my doctor who sent me for x-rays and follow up with a sports medicine doctor in Temecula, CA. Upon my specialist seeing my x-rays, he found the Melorheostosis and stated to me that he had only witnessed this disease twice in his career. Once in a magazine and now mine and requested he be allowed to use my x-ray to train his interns. Nothing was done for me as far as information, pain or treatment of any kind. Initially I was devastated but eventually I let it go because I could find no information at that time. In October of 2009 I went to a rheumatologist who was testing me for Psoriotic Arthritis (none at this time) and confirmed the diagnosis of Melorheostosis but stated to me "You wont die from it." Nothing more was done or said after that. This is where I stand now. I have county medical insurance that may or may not (at their discretion) cover this condition. On top of all this, I have Diabetes, Psoriasis, bi-polar disorder, and other psychiatric conditions. I have pain in the entire right side of my body daily, from my rotator cuff down to my calf. At times the left side does become painful in the pelvic and shoulder areas too. Because of the way I was raised, I usually don't complain to anyone of the pains I experience and just deal with it. However, this pain is increasingly progressing to where I can hardly bear it. When I wake in the mornings my right hand swells up like a balloon and hurts on every movement. I remember when I was an adolescent I had a peculiar lump on my right wrist mirroring the lump that is natural on the right hand side of the wrist. I went to my family doctor who prescribed some ointment and it went away. Never thought of it again, but looking back along with this new information I feel it may be connected to my condition. I really don't know. All I know is that I am terrified now and don't know where to turn. | |
| Amy | 2010 | Charlottesville | IN | USA | Right side of body | I was 13 years old when I started having problems. I was diagnosed in the late 80's. This disease has affected most of the right side of my body. I have severe pain at times mainly at night. I have a hard time sleeping. If I do too much, I pay for it. Pain pills help but I do not like to take them. I have had approximately 8-10 surgeries (lost count) and it has affected my range of motion. I walk with a limp and at times use a cane. It started really getting bad in 1998, and I have had most of the surgeries there after that time. The doctor is getting ready to do surgery on my hip, knee and possibly ankle and foot. I am almost scared to have the surgery done because I get relief for awhile then I have lack of motion and the pain is back. | |
| Brandon | 2009 Upade 2010 | Moncton | New Brunswick | CANADA | Right foot | On January 15, 2009, my 10 year old son was diagnosed with Melorheostosis. I first noticed his right foot starting to turn out at about age 7. It was not bothering him at the time so I let him be. I just thought he had flat feet. Last summer when we were at the beach with friends we noticed how bad his foot had actually become. It looked like his ankle was bulging to the inside as if it was going to fold over. I realized something more serious was going on. In early September 2008 I took him to the emergency department for a routine x-ray. The doctor on call hadn't seen an x-ray like his before and referred us to an Orthopedic Surgeon and a Pediatrician. The next week we were in to see the Orthopedic Surgeon who decided to refer us to the area children's hospital. Within a couple of weeks, several tests were performed including blood tests, bone scans, CT and MRIs. I was quite scared because I was thinking he had some sort of bone cancer, which I'm relieved it is not. At first we thought it may be a metabolic disorder, possibly his parathyroid hormone, but all his tests came back normal. On November 18, 2008 we made the trip the the IWK Children's Health Center in Halifax for an evaluation at the Orthopedic Clinic. The specialists there were unsure what my son had and I left that day somewhat disappointed. I was, however, glad they weren't quick to jump to any conclusions. It took two months, probably due to the holidays, but they have come to the conclusion that he does in fact have Melorheostosis. Today we discussed some treatment options including lengthening his Achilles Tendon and a possible osteotomy to correct the deformity. I don't think they want to perform the later until he's in his mid teens. I'm unsure whether this will help or make matters worse and I'm having a hard time processing everything. The fact that there is no real treatment is very disturbing. I think my biggest fear is that my son may be unable to walk or dependent on pain medication when he gets older. It's already affecting his life where he has to sit out of sports. He loves to skate but when he tried a couple weeks ago he was unable to walk afterwards. I hate seeing him suffer. UPDATE-- January 13, 2010 After great consideration, we have opted not to go ahead with the surgical tendon lengthening at this time. I was very uncomfortable with the whole idea and took Brandon to the Shriners Hospital for Children for a second opinion. I am happy to say that we are going to see about trying botox injections and serial casting to lengthen his achilles tendon. It seems like the least invasive thing we can do right now. Although I know of no one with Melo who has tried this, I have great faith that we will see results from doing this procedure. We have an appointment on January 19, 2010 for an assessment at the Stan Cassidy Center for Rehabilitation in Fredericton, NB. If this works, he will finally be able to get fitted for his AFO. An osteotomy is still one of those options we're discussing but I'm not keen on the idea as I don't want to aggravate the disease. I'm trying to be patient and tackle this Melo thing with baby steps. Brandon still has a lot of growing left to do and hopefully we can get him in his AFO before he has another major growth spurt. I think this will somewhat help correct the deformity or at least keep it from getting worse than it already is. Since September, Brandon has been experiencing pain almost all the time from when he gets up in the morning to when he goes to bed. It used to be only if he was on his foot too much. I've also noticed him limping a lot as of late. Brandon is being referred to a rheumatologist to see if he is developing arthritis. (Brandon was seen in May 2009 by Dr. Francis Glorieux and Dr. Francois Fassier at the Shriners Hospital for Children in Montreal, Canada. We continue to work closely with Dr. Fassier as we try to set Brandon up with the right people to help manage the disease.) |
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| Brett | 2009 | Emmanus | PA | USA | Right knee and ankle | In 1998, I had a tumor removed from my right knee which may have misdiagnosed. I currently have severe limitations with movement / flexibility of my knee and ankle. MRI's and X-rays of my right ankle have suggested melorheostosis. I'm struggling to find a physician in my local area who is familiar with the condition. Walking is impaired and any physical activity is impossible. | |
| William (Bill) | 2009 | Napier | Hawkes Bay | NEW ZEALAND | Right femur, second left toe, third right toe | Pain in lower back and legs when standing for long periods on a hard surface. In 2007, suffered pain in right thigh, thought that I must have knocked leg on some object but no bruising and the pain was deep seated and would not go away. Went to my doctor who ordered plain x-rays and bone scan from which he diagnosed melorheostosis. Referred to Orthopaedic Specialist for confirmation and possible treatment. Following further x-rays and visits I was left with the following summary: 1. Confirmed that thigh and toes are in the same condition. 2. Confirmed that there is no cancer present 3. The specialist tried to blame the pain on other sources while agreeing that it could be melorheostosis did not want to confirm or deny that it was melorheostosis. 4. To be monitored by my Doctor with pain medication to reduce pain and assist with sleep. At the present time, November 2009, the pain is increasing and mobility is slightly affected. I will be reviewing the situation with my doctor. This website and the Melorheostosis Association need to be thanked for the information that they have provided as it is so helpful for people like myself. |
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| Danielle | 2009 | Montauban | FRANCE | Right shoulder | My mum got diagnosed 6 years ago. It started underneath the right shoulder blade but soon the shoulder and the arm were also affected. After seeing a few doctors and not being able to stop the pain; my mum decided to go to Toulouse (big city next to Montauban) and by doing an x-ray the doctors discovered a mark on the arm bone. To try to stop the pain, my mum is taking a lot of medication (hopefully the names will make sense!!) : actiskenan but also ocycontint and when she is really in pain actiq. It seems like since she has been taking these medication she doesn't suffer so much but by using morphine she is losing her sight and has difficulties to hear properly from her right ear. I don't think at this stage that there is much to do as the doctor doesn't know how to treat this disease however I hope one day she will be able to recover and enjoy life like before. |
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| Ruth | 2009 | Perth | WA | AUSTRALIA | Left ankle | My symptoms began after I sprained my ankle when I was a pre-teen (10 or 11). Ever since, I have experienced intermittent joint stiffness and achy pain in my left ankle. Symptoms were consistent enough that I have since referred to it as my "bad" or "weak" or "loud" (pops a lot with positional changes). But it was inconsistent and mild enough that I couldn't explain it well to health professionals (and often by the time I'd have appointments, it would resolve). As I've gotten older, I've noticed the contour above my left ankle is wider than my right. Damp and rainy periods often seemed to coordinate with when it felt worse. The pain increased during the first 3 months of my pregnancy in 2006, and I saw a Physio (PT) which helped. In 2009, the pain and contour continued to increase. I saw a GP in March/April, who ordered an ankle Xray. Nothing abnormal was observed then. In July, the pain was the worst I've ever experienced (generally achy, sometimes shooting, very painful at rest - sitting and lying down, and it would wake me at night). The contour above my ankle was large enough to be notable by the GP. She suggested a CT scan, and when she gave me the findings honestly reported to me that she had to google the diagnosis. The CT scan found "a large sclerotic lesion within the distal fibular with expansion of the fibular shaft present with presence of 'candle wax dripping' appearance reflecting continuous interrupted streaks of sclerosis along fibular tibular bone. ... There is the finding of a sclerotic lesion with spiculated margin within the talus at the lateral aspect involving the talar body and talar neck. No marked soft tissue abnormality noted with no evidence of thickening of the overlying subcutaneous soft tissues seen. ... Features consistent with that of melorheostosis." Comments: I'm relieved to finally have a reason why, although like so many people here living with melo probably now have more questions than answers. I'm seeing an Ortho for further opinion and management options - hoping he's heard of melo (or is at least motivated to learn!). Thank you to all the patients who have shared their stories. It is a relief to know I'm not alone, and I identify with what many have said. Thank you to the organizers of this Association and the website for connecting us to people and information. My next step is to find myself a good Physio. |
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| Shannon | 2009 | Jacksonville | FL | USA | Right hand | I've just recently been diagnosed with Melo after going to see an orthopedic surgeon to correct what I thought was an old sports injury when I was a kid. My finger has been disfigured for many years and, like I said before, I always thought it was and old injury that didn't heal right. When I went to the surgeon after looking at the x rays (which were pretty crazy looking!) he sent me to a orthopedic oncologist. I am currently seeing Dr Mary O'Connor at the Mayo Clinic here in Jacksonville. She seems great thus far. She diagnosed me within 10 minutes of seeing my x rays. I am getting additional x rays and an MRI this week to see if the soft tissue is affected. I go back to her at the end of the week and I am anxious to find out what is next. The pain never really bothered me much up until the last 6 months or so. It has been getting more severe and more frequent. If I type too long or write too much then I experience pain. I have a hard time opening jars or bottles. I am not sure if I have it in any other areas of my body but I'm thinking I may. I guess I will find more out as time goes on. I'm really glad this website it out here, though. | |
| Jack | 2009 | Lafayette | LA | USA | Left femur and hip | In my early twenties I noticed a bulge on my left outside thigh. Manipulation indicated a fairly hard mass that tended not to be painful. I just assumed it was a muscular malformation and I did not remember any injury to the spot. I was always fairly active physically playing sports, running and hiking and experienced only some pain. Over the past 30 years or so I did occasionally experience pain at the location of the left femur that I would characterize as “deep bone pain” but it was fleeting. Several years ago I began experiencing more constant pain in the left leg within the thigh, thinking it was due to muscular strain or ligament/tendon problems since I have always had tight tendons and little flexibility and felt that perhaps a reduction in exercise resulted in strains or reduced flexibility. I did go to a Physical Therapist on the recommendation of my Physician for possible Trochanteric Bursitis and/or Sacroiliac Joint Dysfunction. Physical exercises, stretches, and cold compacts were employed. The relief was only temporary. Over the past two years, the pain became more noticeable. The “deep bone pain” occurred more frequently and there is always a burning kind of pain. Over the past 18 months the pain has become constant and affects my sleep since the hip/thigh hurt and at night I generally only sleep a few hours at a time. Approximately fours months ago I observed a bulge in my left hip and pointed it out to my Physician who immediately had x-rays and a referral to an orthopedic surgeon. After x-rays, CT-scans and bone scans a malignant neoplasm was suspected and I was referred to M.D. Anderson Cancer Center in Houston. After extensive tests there, the diagnosis was benign tumor due to melorheostosis of the left femur and hip. Current treatment is to watch the hip tumor/growth with a six month review and pain management. Currently the pain management is with Advil and with Hydrocodone or Propoxyphene (still trying them out). The pain is continual but not debilitating and the hip growth continues. My Physician at M.D. Anderson is willing to shave the growth on the hip if needed but that may result in some damage to the muscles involved with walking so I am reluctant. I am trying to learn what I can and establish a way to deal with the pain. I am walking everyday for about an hour and have started yoga to try to keep the muscles strong and the leg as flexible as possible. I am still within 6 weeks of the original diagnosis of melorheostosis and don’t know what course the disease will take. |
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| Blanka | 2009 | CZECH REPUBLIC | Left arm and hand | Hi. I am Blanka from Czech Republic. I had Melo since 10 years old, now I am 26, have one 5 years old healthy daughter, but still live in pain. I am sending you some photos from RTG and CT and scinti scam from last month. |
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| Diane | 2009 | Freindswood | TX | USA | Left foot | When I was a teenager in high school, I started noticing that I had pain whenever I bent my middle toe backwards. It was not really bad, but I noticed it. I even had a doctor say that I had broken my foot before, but did not know it. In the summer of 1997, I finally had had enough of the crooked middle toe and pain that I experienced when I stepped on something that made that toe bend backwards. It had gotten much worse. I went to a doctor and had it x-rayed. After waiting about an hour for the diagnosis, he came back in and told me that they did not know what was wrong with me. It looked like I had broken the bone, but it was healed. Upon leaving, the Radiologist came running out into the parking lot to catch me...he had discovered what it was. After giving me the diagnosis of melorheostosis, (I thought he was crazy) he sent me home with my x-rays and instructions to go see my ortho who had corrected a broken tib/fib several years earlier. Well, he confirmed the diagnosis, but would not operate on it. Told me that when I could not walk any more, come back. Ten doctors later, I found a wonderful ortho in Houston (Fondren Orthopedic Group) who looked at it and said he would fix it after he did some research on it. Lucky for me(?) I broke my ankle attached to that foot, and on my second surgery to fix the ankle, he also did a hammer toe correction on that foot. It has now been about a year and a half, and I am starting to experience more problems with it. I will visit him again soon to see where we are...I am really considering amputation of that toe... |
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| Ron | 2009 | Stirling | VA | USA | Middle finger left hand | Diagnosed after suffering a crush injury to my left hand on 4-1-09. I am seeing Dr. Sheffer in Vienna, VA |
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| Glenn | 2007 Update- 2009 | Falls City | TX | USA | Left femur knee and hip | Discovered while on Active Duty, USN, after 2 tours in Viet Nam, and other assignments ,1980. Discovered at NAS Corpus Christi Naval Hospital, 'bone core' sample taken at USAF Hospital at Wilford Hall Hospital, TX, Dr Scott Neff and Dr (AF type) Knuff. I was having knee/thigh pain, went to sick call, they took X-Rays found the anomaly (A&P Lateral Left Distal Femur). After being the Orthopedic Case Du Jure was sent to Ft. Sam Houston Orthopedic clinics for evaluation, then sent to Wilford Hall USAF Hospital for further evaluation. Bone sample taken in femur, Multiple surgeries in the knee, eventually transferred to North Island CA, treated at Balboa Naval Hospital, was medical discharged with the disease as part of the medical reasoning. Presently am unable to work due to the leg, standing, walking etc, and am having problems with the Veterans Administration regarding this. My opinion is active duty military service (including two tours in Viet Nam, with the Army) aggravated the condition, their opinion is it is genetic and not service connected. I am currently 60% disabled through the VA, which enables me to receive treatment for the situation, which, at this point, is pain pills, and nothing else. Comments Hope this helps anyone out there on active duty with the disease, and if anybody has any assistance to increase disability for the situation in the VA would be greatly appreciated. |
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| Warren | 2009 | Olympia | WA | USA | Right tibia | I was diagnosed with melorheostosis in 2004 by Dr. Lor Randal at the Huntsman Cancer Institute in Salt Lake City, Utah. My history began about the end of my 6th grade year. I began complaining to my parents about pain in my leg. I went to the family physician and he did some x-rays and said I had a hairline fracture and I would just have to deal with it. The bone grew out from the middle of my bone and caused a large mass that was extremely sensitive to the touch. Well, I dealt with it until I was 25. The pain was unbearable to walk very long on and if I ever hit the mass. Dr. Randall performed a biopsy to determine if it was fibrotic, the results were negative. I have been back to see him twice on follow-up occasions shortly after the surgery and he told me that he could not see any further enlargement of the mass and if I continued to feel pain to let him know. On my return visit, I showed another mass that I do not recall being so pronounced just above the previous mass on the same right tibia. He told me that it would be difficult to operate on due to the proximity of the patella tendon and where it attaches, it attaches very close to the mass. I have seen different cancer physicians to confirm the mass is benign, but continue to have pain throughout the leg and in the knee area. I have moved from the Utah area and just deal with the pain without the use of medication, something I have been doing for awhile and I suppose there is little I can do from here. | |
| Erica | T | 2009 | Miami | FL | USA | Left femur | In December 1990 (age 12), I hit my knee on an arcade game at the mall. I had a horrible pain in my knee for about a week before my mother took me to the doctors. They took x-rays, but had no idea what was wrong with my leg. The doctors put me on crutches for about 2 months. I began seeing an orthopedic doctor. A year after seeing the orthopedic doctor, they diagnosed me with Melorheostosis. Over the next 5 years I went to physical therapy, spent a lot of time on crutches and had a leg immobilizer. I was given Aleve (an over-the-counter medication) for the pain, which didn't really help with the pain most of the time. They had discussed surgery, but I have not gone for surgery. I am now 30 years old with 2 children. I have been in constant pain for the last 18 years, some days are better then others. I was diagnosed a year ago with Patella Femoral Arthritis as a result of the deformity in my left femur. Over the last year my pain has become somewhat unbearable. Unfortunately, having 2 young children, I have to do my best to ignore the pain. |
| Samantha | D | 2009 | Augusta | ME | USA | Right foot | Hello, my name is Samantha and I was diagnosed with Melorheostosis in July of 2008. I was born with an abnormal toe (one next to big toe) where it is smaller and thicker than the others (not as flexible). I never thought anything of it until the summer of 2008, when I began to get what looked like a rash in between my deformed toe and my middle toe. I thought it might have been athletes foot and I got medication for it but that wasn't the case. It just made it worse. Over a period of a week it began to swell up so bad my foot became purple and I could not walk on it at all. I went to the doctors and they had no idea what it was so they diagnosed me with an "allergic reaction." They gave me a certain type of steroid which made the swelling go down but didn't change the color of my foot (it was still purple). After my prescription was over it began to swell again so I went to the doctors for the second time and this time they diagnosed me with celuitious. So, they gave me antibiotics and sent me on my way. Nothing helped and it stayed swollen for another month or two, and finally the swelling went down but I still had unbearable pain in my foot. I finally went back to the doctors for the third time and this time they gave me x-rays and found that I had Melorheostosis. They said they had never heard of a case in Maine. So finally I went to The Boston Children's Hospital and talked with Samantha Spencer, an Orthopedic Specialist, who really didn't know much about the disease as well as the doctors in Maine and said there was really nothing she could do. So now I'm in what I call remission and it seems the pain and swelling of my foot has dulled down a lot and I rarely have pain or swelling (only when I'm on it for a long period of time). So for now I'm in good hopes and I hope the best for everyone who has this! Best Wishes to ALL!! |
| SF | 2008 | New York | NY | USA | Left ring finger | I am female, late twenties and first noticed that my left ring finger was crooked when I was probably around 10 years old. It looks like I have an irregular bone growth between the knuckle on my finger almost to the tip, creating a size-able bump. I can bend my finger and slide rings on to it with ease and have never had inflammation or pain. I never went to get it X-rayed, as I didn't think it could be anything serious, something that was probably a result of a childhood injury. I finally went to a hand specialist (Dr. Kang) at the Hospital for Special Surgery in New York City. She took X-rays of my left hand and I could immediately see that the image of my ring finger was different from the others, as it was very milky and dense. She diagnosed me with melorheostosis, saying that the condition was most likely benign, as I have not experienced pain or swelling. She said that I could potentially get surgery to shave down the bone, however there is no guarantee that it will not grow back and will certainly leave a scar. She also mentioned that the condition could be present in other parts of the body, however I have not noticed any irregularities besides my finger. As of right now I have not made a decision on whether or not to go through with the surgery. |
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| George | 2008 | Stockton | CA | USA | Arms and legs | I was born with Cerebral Palsy and was diagnosed with the disease Osteopoikilosis. The Pediatrician, Dr. Kat, just happened to know about the disease because his son was born with it as well. Dr. Kat ( my only resource) died was I was six years old. I wondered why I was always in excruciating pain. I was told to see an Orthopedic surgeon to help me with the pain. The Orthopedic surgeon did surgery on my knee thinking that would stop some pain. It wasn't until I was 32 that I went to see a Neuro-Skeletal specialist, Dr. Michael Hevor, that I found out that the simple CP and Osteopoikilosis was actually Melorheostosis. Unfortunately, for me, Dr. Hevor is no longer in the United States and other Neurologists do not know of the disease and are not willing to research in order to help. I was told by my Orthopedic Surgeon that they wanted to scrape my bones, but the surgery is too painful and will not help. I am currently on social security because there are some days that I simply can not even get out of bed due to the pain. I just lay in bed, in a fetal position and cry. I feel like I am completely alone. No one in my family understands the true meaning of the excruciating pain that I endure on a daily basis. I have struggled with drug addiction to ease the pain, but the drug addiction is no longer an option for me. I am only 35 years old and I feel like I am about 70 and I take at least 7 different prescriptions daily in order to try to stop the pain and the debilitation. | |
| Shelby (Parent- Jennifer | 2008 | Watha | NC | USA | Right leg | Shelby was diagnosed at age 5 or 6, but was misdiagnosed at 2 months. The doctors thought it was a lymph node issue, and it would resolve itself. A very observant internal medicine doctor noticed her leg, and asked if he could look at it (he was treating my son at the time). He wrote the word "melorheostosis" on a piece of paper, and asked me if I knew what that was. Of course I didn't, and he referred us to an orthopedic specialist. The local orthopedist sent us to Chapel Hill, who told us there wasn't anything we could do about it. Meanwhile, Shelby's right leg was not growing as fast as her left one. This was causing pain in her back, and her hips were out of alignment. We corrected the discrepancy with a shoe lift (started with one inch and is now an inch and a half), but she was still in pain. The chiropractor helped somewhat, but referred us to a sports medicine clinic. They referred us to Dr. Fitch at Duke, who recommended growth plate removal surgery on her left leg (the good one). Shelby had a successful surgery on May 23, 2008, and it appears that her right leg is catching up with the left one, and she's not having as much pain. Dr. Fitch Thinks that when Shelby is done growing, her leg discrepancy will be a half an inch or less. We would love to hear if anyone else had had this surgery and if it has worked. Feel free to email us any time. |
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| Michael | C | 2008 | Ft. Lauderdale | FL | USA | Left leg and knee | My name is Michael. I was first diagnosed with Melorheostosis back in September of 2002. Martin Roche M.D., Orthopedic Surgery, Holy Cross Hospital in Ft. Lauderdale, Florida diagnosed my condition with a second opinion confirmed by Michael Feanny M.D., Orthopedic Surgery, Total Orthopedic Care, West Memorial Hospital, Pembroke Pines, Florida. This condition came as a result of a total knee replacement surgery with complications. An infection and blood clots that resulted in additional surgeries, plus I could not bend the knee after replacement surgery where four knee manipulation surgeries were performed in April, May, June and July of 2002 by Doctor Roche. I have had a total of 10 left knee surgeries performed. The first surgery was to repair the torn meniscus cartilage in 1995. The next year I had two additional surgeries to repair the meniscus and medial collateral ligament in March and November of 1996. I had more surgeries in 1997 to reattach the torn meniscus. I had more extensive tears in 1998 that required more surgery to reattach the meniscus, replaced it with a donor cartilage termed as a “Meniscus Allograft transplant” surgery. Bad news occurred in 1999 as I was kicked in the knee which again required more extensive surgery. After my 1999 surgery, I was in nonstop constant pain with burning sensation in the knee. In 200 I sought relief from the constant nagging pain that prevented me from living a normal life. I wore a knee brace for more that 7 years. The pain was so awful that it was uncomfortable to stand for periods at a time and walking up stairs was too painful as I had to move up one step at a time. Knee replacement surgery was the only option as I was told. Because of the discomfort deteriorating degenerative condition I was diagnosed with. Replacement was the only option. Total knee replacement is for patients that were 50 years of age or older. I was diagnosed as a candidate as this was medically necessary at 42 years old. Four months after my last surgery in 2002. I was informed that I had a new bone to grow irregularly on top of old bone along the middle and lower thigh and knee of my left leg which prevents me from bending my knee completely. My doctor informed me that I had a condition called “Melorheostosis”. After being diagnosed with Melorheostosis, I was informed that additional surgery could be performed but there is a possibility that the growth will return complicating matters that won’t help. I walk with a total limp today. I cannot bend or run at all. Because of this condition I have gained a massive amount of weight. My forward movement is slow. I strongly believe that this melorheostosis condition was brought on from the four knee manipulation surgeries that were performed. This has altered my life. I had never heard of melorheostosis until I was informed from my orthopedic doctor in 2002. I thought that I was the only person in the world that had this condition until I read a USA Today article this past October 15, 2008. I cried. I cried because there are others that suffer and the medical world has no cure and surgery is not always an option. This is so rare that it is scary. My leg swells swollen each and everyday. Living in Florida, I used to wear shorts all of the time. Because of the swelling, my leg looks like a tree trunk that I no longer wear shorts. I’m having a lot of difficulties. I hope that no one else in the world gets this disease. The medical world must find a cure. |
| Erica | 2008 | Ostersund | SWEDEN | Arms, hands and fingers | |||
| Dave | 2008 | Norco | CA | USA | Right leg, all bones from knee to ankle | My name is Dave Jennings. I was diagnosed with Melorheostosis back in June of 1993. Joseph M. Mirra, M.D., Pathologist in Chief, Director of Orthopedic Pathology UCLA, diagnosed my condition. Doctors believe it might have been caused by a trauma; I was hit by a car when I was 10 years old. I am married and have one son who just turned 21 and so far he does not show any signs of this disease. There was not any information available at the time I was diagnosed. The Medline check came up with only 3 other persons known to have had this disease in the entire world. NORD (National Organization for Rare Diseases and Disorders) were most helpful in providing detailed information about the disease, since our doctors had never heard of it before. The outcome was do all we can to ward off pain, discomfort and complications, and try experimental procedures (reaming the bone marrow, inserting a Spinal Cord Stimulation Unit, physical therapy, diet, herbs/vitamins), but ultimately loose the limb. However, recent notes have been that removing the limb may not be an answer since they do know the disease can affect any bone in the body, and at this point at least it is centered in this one spot, the right leg, below the knee. Since 1993, I have had 4 surgeries that they have to go in and remove and test the growths that cluster behind the knee- they are always benign, and about the size of a walnut. I've had to do this because I cannot bend my leg. It is time again to have it done but I am not willing to go through it, each surgery, and as I get older it is harder and harder, plus with all the scar tissue from previous surgeries, it makes it more difficult for the surgeon. I would never have the Reaming of the Bone Marrow Surgery again, and I am trying to have the Spinal Cord Stimulation Unit removed as it causes migraines and other discomforts. I did all this knowing it was experimental and in hopes it will help, but it has not. I have been through Pain Management at UCI Medical Center in Orange County and manage with pain medication. I am “lopsided” and walk with the help of a cane. I have been checking into a scooter to help get around better. My belief in God and with His strength and hope has gotten me and my family by each day. Thank you for your organization, I thought I was the only one who suffered from this. |
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| Hannah Parent- Eva) | 2008 | New York | NY | USA | Left fingers, hand, forearm, elbow, upper arm and shoulder | At the age of 2, we noticed that my daughter wasn't using her left thumb. We went to the Hospital for Special Surgery and she soon had an opponensplasty (sp?). They said she was missing a muscle from her thumb, so they moved a muscle from the side of her hand to her thumb. The doctor thought she would bounce right back and wouldn't need any therapy. 8 years later we're still in therapy. About a year after the surgery, I noticed a cottage cheese like texture to the top of her arm. When I pointed it out to the doctor, he diagnosed her with melorheostosis. As the years have gone on, it's progressed tremendously. She barely uses her left hand. She has serious contracture in her index finger (it's completely crooked), she cannot oppose (turn her hand so that the palm is facing down), close to zero range of motion in her wrist and tingling in her fingers. Her therapist says this is because the bone is pushing down on her nerves and she is losing sensation in her fingers. Her elbow is contracted as well and her range of motion in her shoulder is limited. Her hand is somewhat deformed looking. I think the term they've used is flat palmed. Aside from that, her left arm is significantly shorter than the right and the left hand is also much smaller. Over the years we've done all sorts of splinting, casting, hydrotherapy, p/t, o/t, massage therapy, and hand therapy. We've also done gymnastics, swimming, dance, soccer, anything I can do to keep her moving at the joints. I saw her surgeon about a year ago, and he basically said there is nothing to do at this point. He suggested considering surgery when she stops growing to position the thumb so that it could be more functional. I'm feeling hopeless in terms of what doctors can offer me. Like I said, I keep her in therapy and physically active in the hope that it will at least slow the process down. |
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| Eva- Marie | 2008 | Hello, my name is Eva-Maria. I´m german and I live near Frankfurt. I have melorheostosis and I´d like to tell you about it. My English is not very good but I hope it's good enough to explain my disease. I´m 37 years old and melorheostosis was diagnosted 10 years ago. (After they told me I will die very soon because of a bone cancer!) and so I´d live very well with melo. happy to be alive. My melo. is in my left leg, down from the hip to the toes and since a few years I have problems buying shoes because my foot is getting bigger and bigger. It´s not that worse but the left foot is two shoe-numbers bigger than the right. It does not hurt very much only long time standing or sitting is a problem for me, I just don´t know what will come in future. I feel quite lonely with my disease, even the doctors don't tell (or know) me something about it and I'd love to get in contact with somebody who gives me some information. Many greetings from Germany. | |||||
| Griffin | 8/20/2008 | San Diego | CA | USA | Left leg ( femur, pattela, tibia and ankle) | My name is Griffin Patrick O'Neal. I was born in Hollywood, CA. My parents were in entertainment and I later gave it a shot myself but with little success. My sister early in her life actually became the youngest kid to ever win an Academy Award. My problem as a young "melo man" started when I was about seven. I was into dirt bikes and I pretended the bump on my leg was a motorcycle jump and I would jump my little plastic dirt bike off this ever growing "bump/jump." My mother didn't notice until I was almost 8. She took me to a doctor (Dr. John McGohnagle in Santa Monica, CA) where I had a biopsy (benign) and a surgery where they shaved the growth off of my tibia (resulting in me having to wear a cast up to my hip for months and a 10 inch scar). At the same time, Ted Kennedy's son was having his leg removed for a malignant tumor. I have always been active, but have definitely had limitations due to my condition. In my mid to late 20s, I started to experience severe knee restriction and pain. My tibia growth also continued to grow back and continues to grow to this day. Another doctor attempted an arthroscopy on my knee with no success so they had to open my knee and ended up removing a golf ball sized piece of "melo-ness." After several months of healing, my movement improved, but now, 8 or so years later, my knee is again very restricted and causes me a severe amount of pain. My lower leg appears "quite swollen" due to the bone growth. I currently have Kaiser Insurance and none of the doctors have ever seen a case of melo. Most have never even heard of it. I received a referral to Dr. William Bowman in SD (an orthopedic oncologist) and had an MRI of my leg done this week, and now they want to do another. Because one of my legs is about 3 inches longer than the other, my back is rattled and I have 2 herniated discs. I limp like a pirate, and life isn't so comfortable. I am to the point now that the deformity, functional limitation and pain are so severe that my doctors are recommending amputation. Although we know that may be a viable option, we are hoping to find some other form of intervention and save amputation for the last resort. We don’t even know if amputation would permanently free me from the pain. We are also looking checking into knee replacement, but all the doctors say I am "too young." I don't feel young. I would love to hear from anyone. Have a beautiful day. |
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| Taewan | 5/25/2003 Update- 7/15/2008 | Busan | Republic of Korea | Left ankle and knee | Hi, my name is Taewan. I am 29 years old. I knew my disease in the year 1998. Diagnosis x-ray in dong -a university medical center. I have pain and functional limitation. Sorry, I don't speak English very well yet. |
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| Suzanne | B | 2008 | Warwick | Queensland | AUSTRALIA | Right Foot | Hi, my name is Suzanne. When I was 37 years old, I discovered that I had this disease. I went to my doctor complaining of a sore foot, which over the years was getting worse. I noticed that a lump had developed in my soft tissue under the arch of my foot, the doctor ordered an x-ray and I had the x-ray done . The radiologist asked me if I had major foot trauma. I said that I have not had any accidents with it. The doctor looked at the x-ray and said that I had spurs, not knowing what she was looking at. The doctor prescribed Panadol and wanted to send me home. I was not happy with her idea and asked for a referral to a specialist as my foot was getting really painful to walk on. Within one week, I had seen the specialist Dr. Anthony G Wilson at St. Vincent's Hospital, in Toowoomba, Australia, orthopaedic surgeon, who order a CT scan which revealed the disease Melorheostosis. The lump under my foot was bone that had dripped into soft tissue, and there were several areas of bone melting together. The foot photos look like the bone had drips all over it. What a mess! I had my foot operated on in November, 2007 to remove the bone that had dripped into the soft flesh which was the size of a golf ball, and I had a toe bone trimmed down, a bit of cutting and grinding. About 8 days later I was up and walking unaided, and have had no problems since then. Hopefully things will stay that way! If you would like any more information please feel free to contact me. Kind regards Suzanne |
| Inez | 2008 | Preston | ENGLAND | 7th and 8th ribs on left side | I first noticed my "funny" ribs at the age of 9 years when in summer I put on my swimming cozzy and looked in the mirror at myself. It must have been at the age when we start to notice ours and other peoples bodies and I certainly noticed that my ribcage was deformed; it was concave on the left side and stuck out quite pointy at the bottom. (The growths that were close to my spine on both ribs had caused my ribs to buckle a bit like bicycle spokes.) When I reached my teens in the 70s bikinis were all the rage. This caused me to be self conscious about my body so I mostly wore loose clothing. This problem was not helped by the fact that I was naturally thin and the affected bones stuck out noticeably. Nevertheless I have always been very active. I didn't have any pain or movement problems so life was "normal" up to a point. I also have Asthma and Hypothyroidism and a very weak immune system. Then at the age of 40 I started to get pain. It started at the growth site at first then and as the months and years went by it spread all over my left ribcage, creepy crawly electric sensations as well as deep pain in the bone. Movement started to be affected (twisting upper body) and sitting or lying for 20 minutes or more caused awful pain. Sleeping was difficult as pain woke me every 2 hours or so through the night hence I was always tired and weary. I must add that because of having Asthma since the age of 4 years, I have regularly been X rayed and the doctors always asked me what these thickened ribs were, I told them I didn't know. that was a regular question whenever I had examinations. Anyway I finally went to my GP and told her of the pain, she said she would refer me to someone who would know about such things. I waited 18 months and got an appointment at my local hospital to see someone I've forgotten the name of. When I went into the examination room the Dr took one look at my upper body and said that all he could offer me was a breast enlargement! I went back to my GP and asked for another referral then waited 2 years for an appointment at a hospital in another nearby town. Again in the examination room the gentleman told me he was a heart surgeon and could do nothing for me. Back to my GP again, another try, waited almost 2 years lost patience and threatened legal action over the phone to the GP receptionist. Surprise surprise 2 days later a phone call and an appointment to see a surgeon (Mr. Millner) at Blackpool Victoria Hospital cardio thoracic dept. Mr. Millner said that the only info he could find about the disease was on the net and that the only solution was to amputate. It would be quote "a world first operation." I had surgery on 24th May 2006, both ribs completely removed, surgeon said he had to use circular saw on bone growths because they were so hard. I was told that the growths on my ribs were most likely to be melorheostosis during my first follow up visit with my cardio thoracic surgeon Mr. Millner, approx Aug 2006. Recovery has been HELL and is still very difficult nearly 2yrs later. Immediately before surgery I had a diamorphine epidural placed in my upper spine and remained on it along with liquid morphine and assorted pills for 3 days. On release they gave me a script for liquid morphine, tramadol and co codamol. This continued for 4 months or so until I decided to stop the morphine and tramadol and went onto codeine phosphate and paracetamol. This was no good at all but I didn't want to go back to morphine so I went to the local hospital pain clinic. The Dr I saw had never heard of the disease either and like other professionals I had spoken to had got his info from the internet. He told me to keep taking the codeine and paracetamol and prescribed pregabalin along with some new wound patches impregnated with lidocain to numb the wound surface area. This was no good either so he then gave me gabapentin and butrans patches (used for heroin addicts instead of methadone but without the high) they caused the most horrendous rash to appear under the patches and they were unbearably itchy so I stopped using them and am now back on codeine phosphate with paracetamol,lidocaine patches and gabapentin and still no relief from the awful pain. My surgeon said that it looks like I've swapped one kind of pain for another; well this is worse in many ways. I can't walk far without severe pain, all ok when I'm reclining but as soon as I move the pain starts slowly and gets worse. I've also recently been given amitriptyline to help me sleep at night and provide some pain relief. This works well for sleeping through the night. It seems that the medical profession knows very little about what to do with me regarding my recovery and pain relief. Nothing was suggested as an option to amputation and I feel a bit like a guinea pig. I've been awarded DLA so getting about is easier but I need lots of help with household chores etc. I am waiting for my next appointment at the pain clinic. Dr wants X-ray of my spine to check for spread of disease into spine because I get lots of backache and my spine is slightly curved to the left (scoliosis?). There's lots more to say but I've put down the bones of it. I do what I can and take each day as it comes. Take care all of you out there with this nasty disease. Best wishes, Inez |
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| Kara | 2008 | Missoula | MT | USA | Left forearm, ulna nerve | I am a 35 yr old mother with six children and a great husband. It was in my late teens when I first noticed a lump on my left forearm. It was small and not painful so I ignored it. That was in the late 80’s. By November of 2007, the lump in my arm had tripled in size (6cm) and became very painful while I was doing normal everyday tasks ( it didn’t help that I’m left handed as well). I went to my general practitioner and had an MRI done. She told me it was an osteochondroma and referred me to a Bone and Joint specialist for surgery. When I went to see that particular doctor, he was very concerned that it could be cancerous because of the rapid growth and painfulness. So again I was referred to a cancer specialist at the Huntsman Cancer Center in Salt Lake City, Utah. I had a bone scan done, x-ray and a CT scan and the doctors still were unsure what it was. On January 16th 2008 I had a successful surgery. The bone was compressed on my ulna nerve and eventually would have crushed it and I wouldn’t have any use of my hand if I had waited. I have lost some control on my left pinky finger but with physical therapy I’m doing much better. It wasn’t until 2 weeks after my surgery that the biopsy came back and I was officially diagnosed with melorheostosis. The Bone and Joint doctor could only tell me the name of it and that it is very rare. I had to go home and Google the word to understand its true meaning. Comments: I feel blessed either way, I’m glad it wasn’t cancer and I’ve had a successful surgery done by a great doctor in Salt Lake who had my best interest at heart. I agreed for them to take a sample for research so I hope anything can help at this point. |
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| Lance | B | 2007 | Brisbane | AUSTRALIA | Left leg | I have just been diagnosed with the condition after going for X-Rays on my left leg where I was getting pain after exercise. The specialist said I have probably had it for many years and it should not worry me too much as it seems to have gone about as far as it is going. I had a full body bone scan which confirmed this so the doctors are just going to wait and see. I have some osteoarthritis in my left knee which is what is causing the most pain so the specialist may be going to do something about that. | |
| Andrea (Mother- Kandi | F | 2007 | Santa Clara | CA | USA | Both feet and knees. Left hand and forearm | Andrea had surgery on December 29, 2006 to correct some deformities in her left foot and had many complications due to that surgery. She got an infection in the bone and soft tissues and had to have subsequent surgeries and an amputation of the middle toe. A good portion of the tissues around the site of the infection had to be removed so she was left with a huge hole in her foot. We could actually see through to the other side of her foot and there was a lot of exposed bone. She was in the hospital for over 2 weeks. When she finally came home she had a PICC line and needed antibiotics to be administered every 8 hours. Andrea required daily trips to the doctor to pack the open wound under "conscious sedation." We learned that most medical personnel do not handle pediatric pain very well. They actually packed the wounds while she was awake a few times and the pain was excruciating. I have never heard crying like that in my entire life. I had to really insist on sedation for all painful procedures and examinations. Initially the doctors said it was not possible to sedate her but I later learned it was. I'm so sorry I didn't insist on it right from the beginning. Fortunately, Andrea recovered and is actually playing on the girl's school basketball team. It was a big challenge finding shoes that could fit her left foot so in the end we had a custom AFO (brace) with a build-up (lift) made for her left foot which she wears without a shoe. It's kind of like a cast or boot with a lift but it's lightweight and more streamlined to her leg. The AFO has really changed the way we look at her future. She has a very big leg length discrepancy (approx. 7cm.) and we thought the only way to deal with it as she grows was to eventually amputate her left foot and make up the difference with a prosthesis. It seems like now that she has a brace with a good design and the proper build-up she won't need to go through all that after all. I hope after reading our story people will know that there are options for controlling pain of pediatric patients. I also want to share our frustration in finding shoes that fit anyone with deformities in the foot. No one had ever suggested to us that maybe there just wasn't a shoe out there for her. The custom AFO she's now wearing has really helped her to become more active which has really boosted her confidence. I'm happy to share pictures if anyone needs to get an idea of what kind of AFO has worked for her. Kandi F(Andrea's mom) |
| Alan | H | 2007 | Birmingham | ENGLAND | Right femur and knee | There I was in my local pub May 18th 2007 dancing with my girlfriend when my leg collapsed for no reason. I felt my femur remove itself from the leg. I fell to the ground and I felt the femur return to its proper position. My friends were jumping on me because they thought I was messing around until I started screaming at them to leave me alone lol. I went to hospital next morning because I thought I had merely twisted my knee only to find out I had a rare bone disorder, the doctors were convinced I had been operated on before but I assured them that my legs have always been fine, in fact until now I have always been really sporty and active in everything I do. After X-rays and an MRI scan they revealed that my Patella had been dislocated as well, they only X-rayed the Femur so I'm unsure whether I have any more bone disorders. No hospital treatment was given because they did not want to open me up and cause any more problems but I went through the normal channels of phisio, I'm walking normally and you would not know I was affected but I reckon maybe something is coming my way because I keep feeling pains in other joints and limbs, I'm hoping its all in my head. Right now I'm back at work and I just get a little throbbing pain from time to time although I always know the pain is there, |
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| Louise | 2003 - Update 2007 | Pittsburg | PA | USA | Right leg and foot | I was diagnosed with the disease when I was 6 years old. My mother took me to several doctors before one in Pittsburgh Pa. finally put me in Children's Hospital for a two week stay and did several tests. I started having surgery at the age of 8. My affected areas are the right leg all the way to and including my foot. I have had 10 surgeries to date for corrections. My doctor started bone growth studies at the age of 8 and finally did stop my left leg from growing to allow the right leg ample time to grow and catch up. At the time the left leg was 2 inches shorter, now the right leg is about 1/8 of an inch longer....almost perfect! Unfortunately, he could not do the same with my foot so it is 2 shoe sizes smaller than the left foot. I have had 2 toes amputated on that right foot because of the severe deformity of the toes curling under and over each other, which has helped tremendously. I am now 48 years old and still need to have another corrective surgery on my foot because of the severe contracture, but I have been putting that off because my surgeon in Pittsburgh has since retired and I have not found one that I completely trust with this situation. If anyone knows of a good surgeon in the Pittsburgh area please let me know. Update 11/14/2007 City, State: Steubenville, OH Age 52 Areas affected: Right hip, right leg, right foot, right hand Treatments: Corrective surgeries done at Children's Hospital in Pittsburgh PA from age 6, total of 9 surgeries. One and 1/2 toes were amputated because of severe deformity, bone growth studies done and left leg stopped from growing at age 12. Prior to that surgery the right leg was nearly 2 inches shorter than the left. Today both legs are pretty close to the same length. Medications: Currently on a pain medication as needed. Physician: William Donaldson, MD Current Status: Doing pretty well, I do have a hard time in the winter months, the cold seems to slow me down because of pain. |
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| Kris | S | 2007 | Lexington | NC | USA | Left foot | My name is Kris and I am 38 and live in Lexington, NC. I have melorheostosis in my left foot. I believe that this was first spotted in my foot when I was living in Southern California. My parents had taken me to the doctor because I hurt the two little toes on my right foot and they x-rayed both feet. Boy, was I at the dr. a LONG time that day! At that time, I received no diagnosis, and pretty much forgot about it. (This was in 1982 or 1983.) That is until 2000. We had moved back to NC several years before. I was at work when I had an excruciating pain in my left foot that brought me to my knees. My co-worker sent me home and I went to the doctor the next morning (MedChoice). They didn't have a clue, but did refer me to ortho in Lexington. The doctor that I saw told me what was wrong, but also told me that this is a painless disease so I must be exaggerating. (Have not been back to that doctor!!) He referred me to Dr. William Ward at Baptist Hospital in Winston Salem. I have seen Dr. Ward several times, but my case isn't bad enough for surgery or even any kind of treatment. I do believe that within the last few weeks it has "come back to life." So will be calling Dr. Ward! I do feel extremely blessed, after reading some of the personal histories, that mine is only in one part of my body, and seems to be a very mild (so far) case. My thoughts are with each of you that has this disease. People tend to not believe anything is wrong with you unless you have something they have heard of! Beth, in Lexington, NC...please get in touch with me! |
| David | L | 2002 Update 2007 | Atlanta | GA | USA | Increased activity on entire left side | Well, I guess it started just before I went to the Army. Before the physical exam to join I noticed that my left thumb didn't move like it should, but everybody said not to worry about it. During the physical exam I told the doctor and he also told me not to worry about it. That is was just from getting it jammed as a child. After going to Fort Knox I noticed almost day by day that my thumb didn't move as much as it had the day before. When I went to the doctor it didn't move at all and I was having trouble on the runs and marches because my left knee always seemed to give out. After 2 months and 6 days in the Army I got a medical discharge with the doctor saying it was simply calcium build-ups preventing my thumb from moving, but the doctors in my hometown of Hazlehurst, Georgia weren't so sure. After a bone scan the radiologist (thinking I had osteomylitis) noticed increased activity from my left jaw down to all toes on my left foot. Soon after I was sent to Dr. Munson at Crawford Long hospital in Atlanta, Georgia who diagnosed me with Melorheostosis. After that Dr. Hein an orthopedic doctor in Jesup, Georgia said that he also felt it was Melorheostosis. In January of 2001 I had surgery to remove bone from my hip and place it in my hand to keep my thumb in a "normal" position. In July of 2001 he went back into my thumb to fuse the joints together so I would be able to use my thumb as a "post" to hold objects. Even though he wasn't able to pull my thumb out as far as both of us would have liked, it is doing very well. Other than the normal pain that comes with the disease my "post" thumb works fine, even if it doesn't move. Now I'm trying to find somebody who will fix my elbow and knee. So if anybody knows of some good doctors in the Atlanta area please let me know at kreed_69@hotmail.com also email me if you would just like to talk. UPDATE: April/25, 2002: I underwent a "test" nerve block for pain in my left thumb. The nerve responded well and I will follow up with a more permanent nerve block. UPDATE: November 6, 2007: I had a more permanent nerve block done in 2002 but for some reason I didn't respond as well and decided the extreme pain of the procedure wasn't worth another possible failure. I've had to go back to the doctors a few times over the past few years as it seems that I've broke then fusions that were made in my thumb. At this point, I'm trying to hold out until more doctors in the area become confident enough to try to fix it before I go through another surgery. In 2006 I had a wreck and the doctors took x-rays and MRI's to make sure I wasn't hurt from the wreck. During this process it was noted in the reports that it appeared I'd had surgery on my shoulder because of scar tissue and the overall bad condition it was in. Before the wreck and since I've had pain in my shoulder and elbow but with the insurance I now have it's more difficult to get things taken care of as the procedures are so expensive. On another note, I've not let it interfere too much as I'm still playing my guitar every day and actually think it's a form of physical therapy keeping my fingers from getting worse. I suppose only time will tell. |
| Samantha C Mother - Angie | 2007 | Fairland | IN | USA | Left knee | My daughter was just recently diagnosed with melorheostosis. It was found incidentally, after a fall I took her to the er to get her knee checked out and make sure nothing was injured. They took an x-ray of her left knee and the er doctor came in to do his exam and was asking her if she has had any pain in that area before this accident. At the time I was thinking why would pain before have anything to do with her injury today. She told him she has not had any pain before. He then told us an area showed up on her x-ray of a very dense area that was very concerning. He showed me the x-ray and it was very obvious to me where this area was. The area of the femur bone where the growth plate is, it is between the growth plate and the bottom of that bone where the knee is. It is inside the bone. This happened on a weekend so I called the ortho office first thing Monday morning and they were able to see her the same day. This doctor was not sure what to make of it but knew there was definitly something and wanted her to have an MRI and see thier child specialist, so an appointment was made for the MRI and to see the other doctor. A few days after the MRI we go to see the child specialist. He said there was something that came up on the MRI he told us the word and I could not remember what he had said it was but that he had heard of it but knew nothing about it. He then referred us to an Orthopedics specialist Dr. Wurtz at Riley Hospital for kids. After getting the MRI results we were told she has this rare bone disease melorheostitis. They said her case is little more unusual because it is on the inside of the bone. So now I am trying to find all the information I possibly can as to learn more about this. She has walked on her tippy toes for quite some time and after reading some of the information I guess this is one of the things that can occur, short tendons. |
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| Kerstin | B | 2007 | Chandler | AZ | USA | Both feet | After suffering extreme pain in my right toe, I was told in 2003 by an orthopedic doctor that I have melorheostosis in my right foot. He gave me a cortisone shot that took the pain away in my toe for good. In 2005, after suffering severe pain in both my heals and arches, a podiatrist confirmed that I had melorheostosis in both feet. I will mention that when I told him I had been previously diagnosed, he said "I highly doubt you have it. It is extremely rare." He fitted me for orthotics to help with plantar fasciitis and gave me cortisone shots in both feet. Although I wear them daily, I still have pain in both my feet at all times. I would like to know of any specialist in Arizona that I could make an appointment with. I am still not convinced I have this disease, and would like a more qualified opinion. I also want to let you know I exist, since this is so rare, and let you know you can contact me if need be for research. |
| Rylee (Parents Jeff and Jill) | 2007 | Egg Harbor | NJ | USA | Right pelvis and hip area, fibula, ankle and one toe | In the summer of 2004, when our daughter was 3, we started noticing a leg length discrepancy. We brought it to our pediatrician's attention and she didn't seem too concerned, saying that sometimes kids legs grow at a different pace. We noticed that Rylee's right ankle was deforming due to the way she was standing so we again brought it to our pediatricians attention. By this time, she sent us to A.I. Dupont hospital for children. We saw Dr. Thacker, an orthopedic doctor. After a series of x-rays, she was diagnosed with melorheostosis. After several shoe lifts that didn't work, Rylee had surgery in June of 2006 (5 years old). They did an I.T Band release at the knee and hip. After a series of physical therapy, they fitted her for another device to put in her shoe to straighten out her ankle. At this point we are just very lucky that our daughter is a gymnast( level 4); she flips more than she walks, which our doctor said was the best thing for her. Her two legs still look off and her ankle definitely needs addressing. Our next appointment Sept., 2007. |
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| Sajjad | H | 2007 | Dhaka | BANGLADESH | Right foot and leg to hip | Its me Sajjad from Bangladesh (A very small country near to India). I used to do Judo from the age of 6. Regularly I came back from my training centre with pain on my Right Foot & Leg. After that, my family took me to doctor and they did x-rays of my right foot and they found it very strange. My eldest brother took it seriously and he took me to different doctor and Finally when I was roughly around 13/14 Years Old Orthopaedic Surgeon named Dr. Salek Talukdar diagnosis as Melorheostosis. And he advised me to avoid all type of sports which could hurt my foot or leg. I was fine and I had Pain (Some times horrible) on my Right Foot and normally it never stays more then 6/7 days. But from last few years I found that, the duration of the pain is increasing and Almost all through the time I have Pain on my Right foot - mainly it become worse after sitting for several times or getting up from bed in the morning and If I stand for long time, also at the time of cold weather. Also I have mild numbness of my Right leg and Hip. I went to different doctors in Bangladesh, Thailand & India, just to get an answer - What is Next ? How long I will suffer like This ? Is this pain increase with the period of time ? Does it spread other part of the body ? No Answer. No Body could advise me. I was feeling helpless as nobody has any idea about it. And it becomes really difficult for me to share with anybody - And I tried not to discuss about it. Finally My wife helped me out finding this site for me.... It is really helpful and feeling really strong that now we are a team and we could do something. And on top of this there are lots of specialists who are doing research and working on this. By that time, I had almost all types of pain killer. BUT now I am trying to reduce taking the medicine (pain killers). I learnt How to live with pain and How to manage it. It’s true that, I have unbearable pain not more then once or at best twice in a month and which ever stays more then 6/7 days. I took it as a part of my life and convinced myself that I have to live with this disease and its pain. Swim helps me a lot. Love and best wishes to all out there who are in the same problem with this rare disease. I wish someone will come-up very shortly with some advice -what to do and how to live with it. Thank you all and hope to hear from you soon. |
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| Justin Mother- Peggy | S | 2001 and updated 2007 | San Francisco | CA | USA | Left Leg | Justin is my 19 year old son who was born with Melorheostosis, but wasn't diagnosed until he was 6 months old. Justin is currently an out-patient of Shriner's hospital in Sacramento, CA where he has been treated for it since his diagnosis. Because of the effects of the disease on Justin's skin and bone tissues in his left leg, the limb was amputated when he was only 4 yrs. old. At the time of his diagnosis (age 6 mos.) the University of Calif. medical staff told us that he was at that time only about the 5th child that they knew of with it in the world. There were probably more that hadn't been documented yet. Before the amputation was performed, Justin was the subject of many medical conferences, where doctors were flown in from all over the world to view him. This was at the insistence at first, of a dermatologist named Dr. Denny Tuffinelli who is an expert in the field of a skin disease called Scleroderma. Dr. Tuffinelli was part of a team of different physicians, which it eventually took together to make this difficult diagnosis. Some of the first symptoms that were visible of Justin's were hard patches of skin that contracted and crippled him on his left leg between his knee and ankle. These skin and tissue involvements were very similar to Scleroderma, which Dr. Tuffinelli has done much research with. A biopsy later revealed that it wasn't Scleroderma, but Melorheostosis. Justin has been treated regularly as an out-patient of Shriner's Hospital, where an amputation of his left leg was deemed necessary to relieve pain and the crippling effects of the skin and bone when he was 4 yrs. old. The amputation was a "through-the-knee" disarticulation. Justin currently walks with a prosthesis. The skin on his stump is extremely sensitive, and easily agitated which because he is "end-bearing" often causes many blisters and if he walks to much can cause him much pain and soreness. Shriner's Hospital is currently in Sacramento,CA. after its move from S.F. ,CA. I am Justin's mom, my name is Peggy Suchan. UPDATE-- July 8, 2007 Name of patient: Justin Suchan Adult Parent: Peggy S. Age: 25 yrs. City & State: Upper Lake, CA. USA Area of body affected: Left leg (also entire skeletal system as seen in x-rays) Justin continues to experience pain in his hips and joints and soreness when he walks with his prosthesis for any lengthy considerable time. He has become a self-taught musician and he loves playing guitar ALL of the time, but standing and not sitting causes much discomfort. After reading many of the personal histories from this site, I have come to a conclusion that I know that MOST of the other patients of this disease will not want to hear or maybe even consider...It is very obvious to me that even though most every area of Justin's skeleton that can be seen affected may be causing him pain sometimes....It was a VERY good choice of the doctors at Shriner's Hospital to remove the main affected limb (his left leg through the knee) and allow Justin to learn to walk with his prosthesis as normal as possible while he was young.....I can only imagine the larger extent of suffering that he would have endured had they not done so....I read the histories that include numerous surgeries and endless hours, days and months of physical therapy that failed miserably... I wonder if the affected limbs had been removed if some of these patients would have been better able to accomplish more and better things in their lives and certainly not have had to endure as much pain as some seem to express in their histories... I wish better things for all. God Bless, Peggy |
| Frank | J | 2007 | New Lenox | IL | USA | Right leg | I was diagnosed with this problem back in 1999 after I had fallen at work. I have had this pain in my right leg for years prior to falling. The fall had irritated it and increased the pain severly. I have been to many doctors and even the University of Chicago and seen the top doctors in their field. All have come back with the same conclusion. I have been told they can go in and remove the bone and place a metal rod with pins, however it means I will have to use a crutch in order to walk around for the rest of my life (NO THANK YOU ). I have been on various pain medications over the years until about a year ago when we finally got a mixture that seems to help. The pain does not totally go away but it helps to the point I can function. I take Oxycontine 40 mg 2 times a day along with Norco 10/325 mg for break through pain as needed and Mobic 7.5 mg 2 time daily. I would not wish this disease on anyone. It would be nice if a cure could be found short of operations. |
| Brodie (Father Paul) | T | 2007 | Mitcham | ENGLAND | Right pelvis, knee, foot and big toe | I was drying my daughter one day after a bath when she was about 4 months old. That is the first time I noticed the difference between the two legs. My wife and I took her to our GP, Dr. Mansfield. He sent us to St. George's Hospital to see Dr. Therbeck. She was unsure. She referred us to Prof. Mortimer at St. George's Hospital in Tooting, who deals with lympodeamer. On the day we came, he had people in on the appointment from genetics. After the examination, he was unsure and asked us to have an ultra sound done on her hip to see if the lymph fluid was flowing in and out OK, which it was. He suggested we gave it until she was walking to see if there would be a difference and signed us off for one year. We went back to him after nine months as Brodie had started to walk early. He was still unsure and signed us off. With this in mind we were very unhappy so we returned to our GP. This time we saw Dr. Leporta. She referred us to Ms. Daly who was also from St. George's Hospital (Peads). We had seen her a few times and in this time she recommended a full body x-ray. After spending 45 minutes in x-ray we were finally done. Ms. Daly looked at the x-rays and then said she would send them away to be looked at by a person who all they do is look at x-rays at Great Ormond Street Hospital. We got back a suggestion of what it could be and who Ms. Daly recommended we see. Dr. S. Mansour, who we did see April 26, 2007 to find out it was the same genetics doctor we saw the first time we went to see Prof. Mortimer. She is meant to be emailing a doctor in Belgium to get his side of it. It was a better meeting, as the doctor had more answers, as to what it looks like is wrong with Brodie. After looking at the sheet ourselves, we can also see this for ourselves. Brodie has a hardening of the tissue, shortening of the limb, range of motion limitations in right leg, sensitivity to the cold (takes long time to warm up) and candle wax appearance on her x-rays. So we want to hear from Dr. Mansour to see if anything else has arisen (so watch this page) and will update if any more information comes to light. | |
| Keri | L | 2007 | Arlington | TX | USA | Left hand | I was just diagnosed with Melorheostosis this week. I have had severe pain and swelling in my left hand for a few years now but nobody seems to know what to do with me. I am hoping the new diagnosis will help. I am an auto worker for General Motors. I need my hands for work. I go home and cry most of the time. The swelling and pain are just more than I can take some nights. Ice and Motrin are not working any more. I recently had an accident at work and injured the first finger on my left hand. Not sure if the pain is from the injury or the Melorheostosis right now. Maybe a little of both. The radiographs are so crazy looking. The more I read, the more I know I am not alone. The pain is not in my head or exaggerated. Sometimes the pain is worse than childbirth! I didn't feel THAT was possible. The doctor I am seeing now wants to send me to an arthritis specialist. Does that seem right to you? Where do I begin for help? |
| Susan | P | 2007 | Skive | DENMARK | Left foot, tibia, knee and hip. Suspect: left arm and hand. | I was diagnosed in 1986 (age 13). Several operations (7), trying to lighten the pain, by correction of the deformed bone, with some luck. A lot of x-rays showed that there was something wrong. Tibia was deformed and they could see "the melted candle wax." The orthopaedic surgeon started looking for similar cases, and found Melorheostosis. At the same time he could tell me that I probably was the only one in Denmark. First it was in my left ankle, then left tibia, then knee and now I have pain in my thigh and hip. New x-rays showed that it was there too (deformatation and melted candle wax). I have an appointment with the same surgeon who I started with in 1986. Lucky for me, for no one else will have anything to do with it. I do not take any medication for my pain, though I have pains every day. I think I have learned to live with them, so far. Through the last few years it has become worse, so maybe later I will have to. It has been good to read abort other people who have the same disease. I have had a lot of questions through the years. |
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| Susan | B | 2007 | Peterborough | CANADA | Left tibia | Hello, I have just been diagnosed with melorheostosis. I am 40 years old. I started getting a stiff ankle about four months ago but was not too concerned. In the last two months I have had a stabbing pain in my left leg. It increased and my leg has been paining me to the point I went in to emergency at the hospital a couple of weeks ago. I was concerned about a blood clot as I knew that I hadn't injured my leg. The doctors at emergency where very shocked with my x-ray and told me they have never seen anything like it. After seeing the bone specialist here in town (Peterborough, Ont.), he remembered seeing something like it in a book. It is in the middle of my tibia and seems to have flared up for some reason. I have never had an x-ray before. I have also just been told I have a tumor on my pituitary gland which is causing high levels of pregnancy hormones. (I have been unwell with low iron, thyroid, hair loss etc.. for 15 years. Perhaps this tumor is the cause.) The bone doctor here thinks my increased levels of prolactin may have caused the flare up in my leg. He is hoping that after my tumor doctor treats me that it will settle down. He mentioned something about leaving a couple of inches above my ankle (in case I ever break my jaw), the "dripping"seems at this time to be in the middle of my leg. Does this mean that someday they will take the bone out? He did not give me too much information other than if I break or crack my leg it will never heal. I can now feel the bone thickening under my skin, It has grown over the last few weeks. Can anyone give me some information as to what to expect. | |
| Cindy | M | 2007 | Colorado Springs | CO | USA | Left femur | My name is Cindy. I am 54 years-old and live in Colorado Springs, Colorado. My melorheostosis resides in my left femur. I most likely incurred it as a young girl forced into ballet after knee surgeries again and again. By age 16, I had had 9 surgeries (medial and lateral meniscus). To date now, my left knee has been replaced twice, an ACL on my right knee and three surgeries on my right shoulder: calcific tendonitis, and 2 rotator cuff repairs. Currently, I am divorced but, fortunately, have a wonderful support group with my daughter, grandson and many friends. I'm currently in school learning computer basics and will start in summer to study to be a paralegel. Pain is my friend, I understand it well. My back has bulging discs and a pinched sciatica nerve. So pain is a part of my life everyday - all day. But we must all persevere and do our best to keep strong and look ahead at a promising future. |
| Jenny | H | 2007 | Calgary | CANADA | Left humerus and right upper leg | I was just diagnosed with Melorheostosis this year. I'm still skeptical myself about that being what it is because according to the doctor, there are other unidentifiable lesions on my left arm. Anyways, they discovered mine as a result of a fall I took a year ago and found something weird in my x-rays. The doctors were stumped so they sent me in for a bone scan and then an MRI. After all this they are thinking that maybe I have an enchondroma. So I get refered to an orthopedic surgeon. His diagnosis it melorheostosis. I just went back today because I have been in so much pain, that even lying in a bath of water hurts it. My arm is always stiff as well as my fingers. My elbow feels pain a lot as well. So far he says he doesn't know a whole lot about the disease and doesn't think there is much to be done at this point. So he's trying me on Celebrex for a month. I don't want to take pain killers the rest of my life. I don't like taking any kind of pills. Does anyone know of any alternatives to this??? |
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| Tammy | V | 2007 | Tulsa | OK | USA | Right tibia | I was 19 when I was diagnosed. My physician was Dr. Eugene Feild. My right lower leg was giving me pain. My differential diagnoses included Ewing's Sarcoma and Paget's Disease. I went in for an emergency biopsy because he was positive I had cancer (from x-rays) and he was "pretty sure" that he would have to cut my leg off, which he discussed with me prior to surgery. I had the biopsy (the tumor came out of the posterior side of my tibia and runs almost to my ankle) and histology came back negative. It was the subject of a tumor board, Dr. George Schnetzer consulted, they did not know what was the problem. Everyone was dumbfounded. Three months later a radiologist in Oklahoma City diagnosed me with melorheostosis. They told me it was something I would just have to live with. My leg is very hypersensitive and I get weird pains several times a week, but I will deal with it. This is a lot better than the alternative (going through life without a leg.) I would like to know what happens when it gets to my ankle. If anyone can give me any more information I would really appreciate it. I would like to hear from anyone else with this. |
| Camila | 2007 | East Sussex | UNITED KINGDOM | Left hand, index and middle fingers and arm | Diagnosed 2005, onset around 1985 aged around 11-12. This diagnosis has been concerning for me as being a sculptor my work relies on my hands but fortunately I am right handed, so unless the pain becomes totally debilitating in my left hand, I can continue sculpting mainly with my right unaffected hand. From around 11-12 years old, my middle and index fingers on my left hand started curling up, stiffening and swelling so that I couldn’t straighten them or curl them in fully to my palm. Then the tendon in the middle of my palm started to thicken and protrude. The nail is wider on the second finger, which is the worst affected and the first fingers end is a bit bent toward the second finger. The curling in of the fingers slowly got worse as did the thickening and this thickening has become harder over the years. I suffer aching and pain in the hand and fingers and in the wrist and arm. It ranges from a dull ache to sharp pains from deep within the affected areas as well as being closer to the surface. The pain is worse if I am run down, overtired or ill and/or if it is cold. The pain is not debilitating but is there quite often and is at times triggered by use of the hand and arm. The hand feels very constricted which is unpleasant but I am used to it. The arm feels tight within the elbow when fully straightened. I am not able to use the left hand properly and as a result the muscles in this hand and wrist are wasted. I do use the left hand for balancing and carrying and minimally when working. I have to type with the right hand only, which I have adapted to without consciously thinking about it. As a child I was taken to see a specialist who suggested Dupuytren’s contracture but he was perplexed as he had never seen this in someone so young. I had some physiotherapy, which was of very limited (if any) benefit and I was told to stretch and force the fingers out to exercise them. I have been told that melo is unrelated to an injury but despite this I wish to keep an open mind about this possible link as around 1986-7 I saw an osteopath, to treat a muscle spasm in my back (following a fall from my horse) and at the same time I showed him my hand. He asked if I had ever had a whiplash injury and I remembered an accident when I broke my nose and had had whiplash around late August 1984. The osteopath found restriction of movement in the mid cervical area, which he said could be irritating the nerve supply to the hand and causing impaired circulation and reduced nutrition to the affected area. The hand did seize up in the years following the accident and since the initial osteopath treatment the hand has not curled in significantly more but the thickening in the fingers has become much harder. This may be coincidental. In 2005 on hearing the diagnosis the osteopath suggested: “I think it would be interesting to check whether your childhood whiplash left a chronic problem in the neck producing irritation of the nerve roots C7, C8 and T1, these are the roots of the ulnar and interosseos n which serve the same areas of sclerosing. MRI scans of the neck should reveal something on this.. I suppose the point I'm making, is there a differential diagnosis between, a) melorheostosis-a condition of unknown etiolgy and, b) abnormal bone development arising from impaired nutrition/blood supply/chronic muscular strain/ nerve root irritation. This may be alleviated with treatment…” In 2005 I saw Professor Wordsworth and Professor Rodger Smith at Nuffield Orthopaedic Hospital in Oxford. They confirmed the diagnosis and took a blood sample to do DNA sequencing but they found nothing in the LEMD3 gene in my sample that would be likely to cause any problems. Professor Wordsworth said that it was unlikely that my childhood accident would be of any relevance to this but that he can’t be sure. He said that those patients who develop melo who also have evidence of osteopoikilosis have mutations in the LEMD3 gene. To date patients like me without the additional osteopoikilosis seem not to have mutations in the gene and it is not yet known what is the cause in these cases but they are hoping to study tissue from an affected patient over the next year or two in order to try to understand what is causing the problem locally. It may be that mutations in the gene occurring in small parts of the body at a later stage of development could be responsible, but then again it maybe a localized problem in an entirely different gene. |
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| Lyn | B | 2007 | Christchurch | NEW ZEALAND | Knee and foot | I was diagnosed over 30 years ago when I was in my early 20's. I have had 2 major operations and two key-hole surgeries. When I was about 7, I fell out of a car and my knee took the force. The doctors say this was not the cause but I'm sure it started something - the calcifying of the bone. After having a severe fall and injuring the top of my foot a few years ago it too calcified, so that is why I think there is possibly a link to injury in some instances. Just a layman talking here. I was born in Rhodesia and diagnosed there but it was only after coming to NZ that I had surgery. Initial symptoms: pain and swelling of joint, locking in position; inability to bend or straighten leg properly. I also have pain going up the leg. When I first looked on the web, I only found one small paragraph about the condition. Nice to know there are others out there. |
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| Heather | 2007 | Coushatta | LA | USA | Right knee, right tibia-fibula, right foot | ||
| Tarra | H | 2006 | Glasgow | MO | USA | Femur | My name is Tarra Hosmer and I am a 33 year old living in Glasgow, Mo. I was first "diagnosed" about 14 years ago when leaving the military. I had multiple x-rays to diagnose pain in my legs. The film of my femur bones showed a melting candle wax feature. The doctor who showed it to me said "oh, you have melo." When I asked what that was, he showed me and said it was nothing. I have been dealing with chronic pain in my legs and could not remember the name of the disease to ask my current doc if that could be a cause. Thanks for having a web site so that I can educate myself as well as her. |
| Nicolas Mother - Vasso | L | 2006 | Adelaide | AUSTRALIA | Right ring finger | We first noticed a lump on Nicholas' finger several months ago, and since that time, after hand X-rays, CT Scans and now a full Nuclear Body Scan, Monostotic Melorheostosis has been diagnosed. The Nuclear Body Scan was undertaken after consultation with our Orthopaedic Surgeon, Mr. Peter Cundy, to ascertain if this was isolated, or if it was in other areas of his body. Nicholas currently does not have any pain or problems with flexibility/use of his finger. However, the swelling has increased in that time. We have just met with a geneticist, Dr. McGregor, from the Adelaide Women's & Children's Hospital, who is researching/consulting with other specialists overseas, to answer our many questions. After reading other personal histories, on this site, I still have many questions: what will happen long term; will Nicholas' condition worsen; can he expect it to affect other areas; can he expect pain; will it spread and affect the growth of this bone; what can be done to increase awareness and research, to find a cure and better treatment? The next step for us to is to continue research in consultation with our medical specialists, before making any decisions. |
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| Jeffery | S | 2006 | Cleveland | OH | USA | Right Shoulder | I am a 47 year old man that one week ago was diagnosed with melorheostosis in my right shoulder. I had constant pain and loss of use of my right arm for years. My shoulder was x-rayed 5 years ago and the tumors present in my shoulder were diagnosed as 'presumably due to post operative change'....funny I never had surgery on my shoulder. I continued living with the pain and loss of use until I met my wonderful new wife. As we were staring our new life together I hurt my right wrist at work which led me to my present doctor who diagnosed me with melorheostosis. I had 4 tumors in my right shoulder, which Dr Seitz wanted to remove immediately. I had to have a complete shoulder replacement and a portion of the largest tumor could not be removed. They are not sure if it will continue to grow. This is all new to us and we are in the process of learning all about this. A week ago I thought it was old age.....Today I am realizing I have had a very rare disease for a very long time. My wife has always said I was special...guess she was right!!!! I am from Cleveland, Ohio....not sure if any else out there is.....Help!! |
| Carter | C | 2006 | Noblesville | IN | USA | Left arm | The first time I heard of melorheostosis was about a year ago. I went to urgent care because of bad pain in my left arm. They did an x-ray and the doctor said he thought I had melorheostosis but wanted me to go to an orthopedic doctor to confirm. So I did and he confirmed what the other doctor said and said he was sorry but he could not do anything for me. Urgent care gave me pain medication and the pain lasted about two weeks. This was in Indianapolis, Indiana. In 2003 I was in Stevens Point Wisconsin and woke up about 1:00 AM with bad pain and went to the emergency room for help. They took x-rays and thought I had Pagets but were not sure so I had them forward the x-rays to my doctor at the Marshfield Clinic in Marshfield, WI. I called later that day and they told me they have been aware of this for sometime. They gave me a prescription for pain medication and the pain went away in about two weeks. I have been treated for pains in my back and left arm for the last 15 years or longer but Marshfield never said what I had that I know of. Marshfield Clinic is a well known clinic and I don't know why they didn't tell me about melorheostosis. I have seen x-rays of my left leg over the years and it looks like the bone is marred or that's what Dr. Swensen had said. He also said he believed the bone in my left arm was very abnormally hard. Mayo Clinic confirmed that when they removed a bone growth off my hip when I was maybe 18 years old. Do you think you could find the article that was written back in 1965 by Dr. Swensen from the Children's Memorial Hospital in Chicago? I have a copy of my records from Marshfield and as soon as my wife gets home I will have her find them and see what more I can find out. I think my father gave me a copy of the bill for the 5 week stay in the hospital in Chicago in 1965 which at that time was close to 9,000.00 dollars. |
| Regina | A | 2006 | Dallas | TX | USA | Right foot | I was just been diagnosed with Melorheostosis about 2 or 3 weeks ago. For the past year or two I have had pretty bad pains in my right heel. It's actually gotten too hard to stand on it for a long period of time. I finally went to a doctor who sent me in for an MRI and x-ray. At first they thought I had some sort of bone cancer, but the doctor said the university actually said the "candle wax" look was Melorheostosis. I have surgery in two days to remove part of my heel. My toe (the one next to the little one) is also affected. The only pains I am getting right now though are from standing too long or sometimes at night when I am trying to sleep and I get pretty bad cramps in my toe and my calf. I don't know anything else right now. I have read so many of the stories here and it's pretty scary to see so many people in so much pain. I do have a question though...why does it seem like the majority of the affected are towards VA? Just curious...I am from VA originally. I will update again later. For now I still have a lot to learn. |
| Sophia | B | 2006 | Arlington | SD | USA | Both feet, legs, hips; left hand, arm and shoulder; right ring finger and pinky | |
| Trina | B | 2006 | American Canyon | CA | USA | Left femur | My name is Trina and I am 33 years old. I live in American Canyon, California. I have had pain for about a year in my left femur that is progressively getting worse. The doctors are baffled and after a biopsy of my bone in June have narrowed it down to Melorheostosis. The pain in my leg is getting pretty bad and the only way for me to function is pain meds...lots of them. And I am scared to get addicted. The pain isn't muscular, its a deep "in the bone" pain. I know nothing about this disease and I'm very scared. I am the mom of two great kids that I'm missing out on a lot with them because it's too painful to do. I can't even go bowling without being in pain. If there are any suggestions or help anyone can give I'd really appreciate it. |
| Junhong | 2006 | Seoul | KOREA | Ankle and leg | My mother and brother went to the university hospital for the diagnosis of Osgood- Schlatter's Disease, a common growth period disorder, but after a few days, they received a medical certificate of melorheostosis. Genetic testing found the disease of ankylosing spondylitis and melorheostosis was found by MRI and X-ray. Therefore, my brother has three diseases: melorheostosis, ankylosing spondylitis, and Osgood- Schlatter's Disease. So far he has not had felt any pains from the melorheostosis. The doctor told my mother that we have to watch the development of it, since he is in the early stages of the disease. | ||
| Marie | M | 2005 Updated 2006 | Providence | RI | USA | Middle 2 fingers of left hand | When I was about 9 years old I started to notice a bump developing on the inside of the second joint of my left ring finger. My family and I thought that perhaps I had unknowingly injured it, but when it didn't go away, we became curious and consulted a doctor who thought that it might be some sort of arthritis. Although it was awkward, it did not hurt, so I didn't pay much attention until I started to develop another bump on the joint of my middle finger directly opposite the first one. This one started growing in my late teens and, unlike the first one, was and has been painful fairly constantly from the beginning. It is also much larger and grows both up and out. The fingers are very splayed and resemble the "live long and prosper" sign from Star Trek. I have some limitations on the movement of those two fingers and my left hand (non-dominant), though I do make my living using my hands (I'm a book binder). About 12 years ago, when the second bump was really giving me more trouble, I want to see a hand specialist who very excitedly diagnosed me with melorheostosis and told me that there was nothing that he could do for me. He did say that the condition was very rare (about 400 known cases at the time) and that it was not thought to be genetic. That's pretty much all that I knew until finding this website. In reading through the personal histories I realize that my case is very limited and I feel great sympathy for those whose condition is more widespread. Perhaps this site will be a factor in some day finding ways to treat melorheostosis. Thanks to all who established this site and who contribute to it. UPDATE: May 12, 2006: I want to add that I had surgery this past February for the melorheostosis in my left hand. My surgeon was Julia Katarincic who works out of Rhode Island Hospital and is affiliated with Brown University and University Orthopedics. I decided to have the surgery because my fingers had become very stiff and painful and I felt that the possible advantage outweighed the possible risk. In my case, the melorheostosis is very limited and occurs without osteopoikilosis or Buschke-Ollendorf. My feeling is that the procedure was mostly successful. My surgeon described the bone that she removed as extremely hard and requiring a much bigger chisel than what she would normally use in this area. In addition, she made a decision to leave a bit of the diseased bone because one of my tendons was attached to it and she felt that since my main goal was mobility, trying to remove and replace the tendon would seriously compromise that. Since the surgery I have had extensive rehab with Karen Carney at University Hand Therapy. Although my fingers were very painful and swollen at first, the therapy has given me much more mobility than I would have expected. I still experience pain, but not to the extent that I did. The swelling has mostly subsided and though my fingers are still fairly uneven, I don't have the large knobs that I had before. I have been back at work as a bookbinder since about 7 weeks after the surgery and have had no problem with that, nor with playing guitar (I was always pretty limited there anyway, but mostly by lack of talent). I did also arrange to have my tissue sent to Denmark to Dr. Geert Mortier's lab. The last I had heard, the samples had not arrived in good shape and the lab didn't know if they could be cultured. I was disappointed to hear this as donating the tissue was very important to me. There is still some chance that they were able to use some of the samples, however, and if that's the case, I hope that they can contribute to learning more about the origin and treatment of the disease. Many, many thanks to Lyn Pickel for helping me in the lead-up to my surgery and for putting me in touch with Dr. Mortier's lab. Lyn was tireless in helping me to bank my tissue and in her support and encouragement. |
| Katrina | W | 2006 | Manheim | PA | USA | Left tibia | I have had issues with my leg my whole life. Until about 3 years ago the pain was minimal. As the pain intensified, the doctors began to look into it more. So finally about one year ago I was diagnosed with melorheostosis. Since the biopsy a year ago, the bone has grown larger and there is more severe constant swelling, and even more debilitating pain. |
| William | M | 2006 | Burlington | CANADA | Right femur-hip joint and knee | First diagnosed by Dr. Ian McIntyre in Burlington in 1975. Over the years I have seen many doctors, including Dr. Michael Kleerekoper, then Division Head of the Bone and Mineral Division at Henry Ford hospital in Detroit and most recently, Dr Bogoch at St. Michaels Hospital in Toronto. My right femur is approximately double in diameter to my left femur and I have negligible lateral mobility in my right hip joint due to the huge overdevelopment in the top of the femur. Likewise I have a tennis ball size overdevelopment on the outside bottom of my femur. To date, my right knee is not giving me a problem. Ironically, my left knee is now grinding and giving me pain, perhaps due to many years of jogging, but possibly also due to extra burden associated with my right leg problems My right leg is noticeably shorter than my left leg and when standing straight, my right heel does not reach the ground. Basically, I have lived an active life in the 30 years since being aware of melorheostosis and still walk 18 holes on the golf course regularly. My principle difficulties relate to painful muscle spasms that occur periodically, principally when I am at rest, either sitting or attempting to sleep. Some evenings and nights are terribly bad and I experience far ranging pains that can be from deep in the hip socket to the middle and bottom of my right shin. Very mysterious! Surgery has never been recommended and I prefer to keep on keeping on with my routine as melorheostosis is not life threatening. In respect to medications, I take Amitripylene nightly to facilitate sleeping and Celebrex for pain in my leg hip and lower back which I believe has been affected by my unusual gait. At one time I was advised by a pain doctor to take hypnotic drugs to increase my capability to sleep through nerve spasms but my family doctor was opposed to the idea on the basis that they were habit-forming and I had too many years to live to be hooked to increasing dosages of hypnotics. |
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| Stephanie | H | 2006 | Nederland | TX | USA | Well where do I start. It hurts very bad, some days it hurts to get out of bed. I constantly feel my bones grinding and you can hear all my bones pop. I periodically have to pop my knee in place. It hurts so bad it makes me cry and I think why me, why us?? I am 21 years old and I feel like I'm 50. My activities are limited and I don't get to do and enjoy the activities my friends do. I can't stand or walk for long periods of time. My legs sometimes give out. I haven't had too much luck in the doctor department. I have been denied treatment more than I have received treatment. I have internal bleeding in my stomach due to the harsh effects of Advil, Tylenol, etc. It just feels so hopeless sometimes. Anyone in the Texas area or anywhere that can help me, please email me. I will respon | |
| Nicole | 2003 Update 2006 | New Berlin | WI | USA | Right hand wrist and arm | Diagnosed at age five in Milwaukee. Have been to Johns Hopkins and Mayo Clinics. I had surgery on my right hand at age 16 at the Mayo Clinic to improve mobility. The surgery was a failure due to the consistency of the bone. I am currently having quite a bit of pain and swelling in my right wrist. Have not seen anyone about this disease since 1986 and am struggling to decide where to go for treatment for my wrist. Most doctors are not aware of this disease and can't help. | |
| Nadia (Father- Mike) | 2006 | Sheridan | WY | USA | Right foot | Nadia has been affected by this for several years. It was diagnosed two years ago after an MRI and x-rays in Billings, Montana. One of her toes is curled under. Between this and the issues she has along the arch of her foot, she has quite a bit of pain. She cannot walk very far. She has seen a local foot doctor but for now we are taking a wait-and-see how it progresses approach. |
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| Angela | A | 2006 | Milwaukee | WI | USA | Left tibia, left foot and heel | I was first diagnosed at the age of 14. At the time I was having no discomfort, but there was a large unknown bump on my left tibia, so I had it checked out. Up until 5 1/2 years ago, I had very few problems. A few months after having a baby, I started feeling stiffness directly behind the bump up to my knee. I then saw a rheumatologist by the name of Dr Sanford Baim. I had x-rays taken along with a bone scan. The scan showed that there was activity in the bone where the disorder had been obvious previously, but also showed activity in the left heel and a part of my foot where I now have occasional small twinges of pain. I now walk with an obvious limp. At this point I am searching for a doctor that is in my health insurance network. I would like to find a way to deal with the pain. |
| Grace (Mother- Amanda) | 2006 | Atlanta | GA | USA | Right hand | My Five year old daughter has been diagnosed with Melorheostosis in her right hand. (4/9/98) When she was Two the doctors thought she had a Trigger Thumb because her thumb would not fully extend. She had a Trigger Release. No splitting or therapy was required. About five months later we noticed her thumb bending towards her palm. I took her to The Hand Treatment Center here in Atlanta. Her new doctor suggested splinting her at bed time. She cried when she wore the splint and her hand was getting stiffer. (11/17/98) my daughter had surgery again. Her hand seemed better but the doctors were concerned about the scar tissue and contractures at the index finger. (9/13/99) x-rays showed bony changes of her fingers, doctor diagnosed her with Melorheostosis. (1/7/2000) my daughter was waking up from a deep sleep in the middle of the night with severe pain. Doctors recommended Advil before bed. The doctors have given me a few articles about Melo. It is so frustrating because it seems there is nothing we can do. Her hand has gotten worse. She is having PT at school. They are trying to have her switch to being left handed. She truly is a right brain person. I'm afraid we're going to have trouble in school. (1/18/2001) we had a second opinion by a Michelle Gerwin Calson at the hospital for special surgery. She confirmed my daughter's condition as Melorheostosis. The doctor said no surgery, no splinting. Physical Therapy only. Both of our doctors are surgeons and have not provided a great deal of information, Questions and comments: Now what?? Where do you go for help??? What type of doctor sees children with Melo?? How progressive is Melo? One article I read said the melo can "spread" to the closest hip or shoulder. Does one ever out grow this condition?? I am so pleased to see there is a web page. I would be very interested in your experience. Amanda Keyes UPDATE: May 12, 2006: City, State: Encinitas, CA Areas of body affected: Right hand, wrist, arm and shoulder Personal History Update: I am writing to update my original information on my daughter, Grace. Grace is now 10 years old. The melorheostosis seems to be spreading and the pain is too. Grace has contractures in her right thumb and next two fingers (her thumb is unusable and lays on her palm), her right wrist and now going into her shoulder. She cannot rotate her wrist or forearm. She has trouble with her shoulder. I want her to swim for the rotation. It hurts her so she doesn’t want to do too much. Grace went to physical therapy for 6 months. She got better but then the funds ran out and they told us to do everything at home. It's hard. We have gone to USCD, the BEST, and they have no answers. Her doctor feels her condition is not just "Melo" but that something else is causing these horrible contractures. She is attending a fitness program at the Y. Her trainer was asking me a bunch of questions about how to train her upper body. I wish we could be there for the conference. |
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| Robin | B | 2006 | Hagerstown | MD | USA | Right femur, right knee | I was just diagnosed yesterday with melorheostosis. My right femur is affected and I also have developed a soft tissue mass on the inside of my right knee. I'm still a little bewildered by it all. Symptoms: I was born with a "pork rhine" discoloration on my right knee and back of calf and pain. My orthopedic doctor told me yesterday that was a sure sign that I may have this disease. However, I was just diagnosed yesterday. He said I was very lucky the symptoms really didn't take hold until my 30's. I have always had a "weak" right leg, however the pain didn't start until in my 30s. Sometimes I hurt so bad I just sit and cry if something even brushes my leg and then some days I'm perfectly fine. I found that really odd, until yesterday, when I found out it was normal. I am being sent to a bone tumor specialist at Johns Hopkins University in Baltimore to see if there are any new treatments available. However, I was told not to get my hopes up. My main course of defense is going to be pain management. He told me pain would be a part of my life forever (which, considering the alternative, I guess that's ok). Feel free to send me emails. I don't know anyone I can really talk to that has this condition because we are all "one in a million." |
| Maren | 2006 | Narvik | NORWAY | Right pelvis and femur | |||
| Jonathan | R | 2006 | Hereford | UNITED KINGDOM | Right wrist, index finger and thumb; shoulder and back of shoulder bone | I had one surgery on my wrist to try to improve movement with not much success. My condition is gradually getting worse; the affected joints ache most of the time. I am considering amputation of the index finger as there is no bend at all now at the distal joint and only partial at the knuckle and next joint down. |
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| Tami | S | 2004 Update 2006 | Kunkletown | PA | USA | Right foot | I was told I had melorheostosis back in 1999. My doctor had never seen it before so he tried everything just to help me with the pain. I tried magnetic shoe insert...anti inflamatories....arthritis medications.....and was finally put on Lorcet which is the only thing that helps the pain. I had x-rays and MRIs. The bones in my foot have basically grown together and it is very painful. Some days the pain is so bad I am in tears and other days you would never know that I have it. Sometimes my left foot hurts because of they way I have to walk. I am told there is no treatment. This is something I have to live with. I meet a new doctor this week. I am told she has treated people with this disease before and knows a lot about it. I applied for disability because I can't be on my feet too long and also I am on strong pain medications. They don't understand this is something I have to live with my whole life. They awarded me a period of disability--about 7 months worth. The state obviously doesn't know much about this disease. I wish it could be fixed. Isn't there a surgery that can fix this disease? I am tired of being on pain medication and I am tired of the pain. I would love to talk to anyone in the same situation. Update added 3/26/06: Location: Millsboro, DE I have been suffering with foot pain for several years. I will guess 10 yrs or more. I have been on pain meds for too long now. I wish there was a surgery to fix this problem. It seems there is a surgery to fix everything else in this world, why not this? I would love to be pain free. I have gone too many years with this pain. It hurts to walk, it hurts to stand, it hurts to drive, and so on. Disability has been denied me, I think because they know nothing about it. I told them it hurts to be on it so they said to get a sit down job. Well, that's easier said than done when you are taking pain medications 24/7. |
| Danielle | C | 2006 | Minneapolis | MN | USA | Left hand | I started to notice some deformity in my left hand when I was about twelve. We always figured that I had hurt or broken it at some point and it healed wrong. Last year, 2005, I randomly asked a doctor about it when I was getting an ingrown toenail looked at. He was very concerned that I had a bone tumor and referred me to a specialist at Fairview in Minneapolis who diagnosed it and took some pictures. My middle finger is very large and thick and hard in between the joints, and my ring finger bends out so there is a large gap when I put my fingers "together." X-rays also revealed that the bone extending from my middle finger into my hand is thick too. I can't really make much of a fist with my left hand because the middle finger can bend just enough to make a "C" shape. I'm left-handed but have adapted. It does hurt sometimes and is sensitive to pressure. I would be interested in removing some of the bone, if nothing else because I'm a little self-conscious. |
| Jennifer | G | 2006 | Parker | CO | USA | Left ankle, both feet, hip and arm | I was diagnosed with Melorheostosis at the age of 2 (1980) by Dr. Eilert at the Children's Hospital in Denver, Colorado. My parents had noticed that I was walking with a limp and could not put my left heel down. After several doctors and several failed tests, I was diagnosed. The disease affects my left ankle and both feet (mainly my toes). While the disease is most predominant in my left leg and both feet, I do have it in one of my hips and one arm as well. Since the diagnosis, I have undergone 6 surgeries total. Two different doctors (Dr. Strasburger and Dr. Eilert) attempted three heel cord lengthening surgeries; one when I was 2 years old, one when I was 6 years old and one when I was 15 years old. They hoped that since I had stopped growing at 15, the lengthening would not reverse (as it had done the previous two times). Unfortunately, they were incorrect and finally ended up taking 2 1/2 inches of bone out of my left leg when I was 18 years old which seems to have worked very well. (My left leg was longer than my right so it evened me out). I also have four toes that are bent (hammer and claw toes) due to the disease and an attempt to surgically straighten them also failed. BTW - my experience with pins in toes is that they DON'T pull out very easily like pulling out a hair - I had to find that one out the hard way (pliers tugging on my newly operated-on toe), they had to take them out in day surgery. My doctor said it had something to do with my bones being denser, probably due to the disease. If you have the option - I recommend day surgery. My toes have gone back to the way they were and I have trouble wearing heels and walking/standing for long periods of time. My feet swell very easily and I am just recently experiencing some numbness on the left side of my left foot. I do still have chronic pain and extreme stiffness in my feet and legs. I have to hobble around for a bit to loosen up in the morning when I get up or when I have been sitting for a long period of time. However, it has been 10 years since my last surgery and I am able to walk normally, run, play sports, etc. I feel very fortunate to be diagnosed at such a young age and believe staying active has helped the stiffness in my legs to decrease (even a little bit). |
| Marilyn | E | 2006 Update 2008 | Garrison | ND | USA | Right leg | I would like to update my personal history. I am 68 and have melorheostosis. I have it on the right leg, on the distal fibula. I have had it more than fifteen years. I have been to several orthopedic surgeons. All say that there is nothing they can do. It is extremely rare. As of today there is no help. It is extremely painful. The only thing they can do is give you something to take care of the pain. Marilyn Engel Personal History: I have melorheostosis affecting the distal fibula on my right leg. I have been to several bone doctors and all say they cannot find treatment for it. I am on pain killers. It is extremely painful. Any help I can get will be appreciated. |
| Helen | J | 2006 | Karlskrona | SWEDEN | Right hip and femur | Hi! I'm Helen. I was diagnosed with Melorheostosis in January, 2006. I went to the doctor in November 2005, since I have had a pain in my hip for several years. He examined me and sent me to have some x-rays. After that I was contacted by the chief of our orthopedic nursing ward at our hospital by a letter. More x-rays followed. He said he had never seen anything like it, and that he had contacted colleagues at Lunds University Hospital. They confirmed it was Melorheostosis. Now my doctor, Peter Munksgaard, wants to replace my hip joint. I'm having more x-rays to come in 6 months, to see how progressive it is. The good thing about it, it's not mortal... A funny thing about it all, I knew more about this disease than my doctor. As soon as I knew the name of the disease I started to search for information about it on the internet. I found this page, among little else, and think this is the most serious site that covers our disease... |
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| Michele | S | 2003 Update 2006 Upate 2010 | Edgewater | NJ | USA | Right ankle and foot...spreading through toes and up foot | I was diagnosed in 1997 at Montefiore Medical Center in the Bronx [New York]. The doctor who diagnosed me is Dr. S. Bosco. For about 2 years prior to the diagnosis I had been getting severe pain and swelling in this ankle. In my high school prom picture you can see the beginnings of the large lump that has formed on my right ankle. The 2 years leading up to my diagnosis came with pain that I had never experienced before. I had already seen 2 orthopedic surgeons. One told me, "I can open you up and poke around, but there isn't much I can do." The other told me that he didn't know what it was. He did extensive testing and, in the end, gave me an air cast and sent me on my way. I would wake up in the morning and not be able to walk. The pain and swelling were too intense for me to move. It would take about 45 minutes until I was able to put any pressure on that ankle. One morning, 3 months before my diagnosis, I woke up and my ankle was triple its normal size and the pain was so severe that crying would have never done it justice. Frustrated with the lack of knowledge that the doctors had I stayed home and did nothing. When my son's father needed arthroscopic surgery I went to a consultation with him and his doctor...Dr. Bosco. This doctor noticed my ankle and began to ask questions. I had no answers but to tell him the pain I was in and the extent of the prior tests. He asked me to get all the test results I could and bring them in. After bringing them to him, he fit me with a cast for 9 weeks to see if that would settle the bones. Not knowing what the problem was, he took my MRI. bone scan and x-rays to his colleagues. The end of the 9 weeks came and I went to get the cast removed. He told me that I had melorheostosis. Since then I have had physical therapy, cortisone injections, methotrexate and folic acid and wore a rocker boot (cam walker) for almost 3 years. This past summer I stubbed one of my toes on my right foot...I thought that I broke it. I went to the hospital and they took x-rays. The same orthopod who gave me the air cast examined me. He told me what I had (melorheostosis) and told me that I hadn't broken anything but that it is getting worse. Since then I just deal with the pain. I am a teacher and stand all day. The pain is enormous. The lump is the size of a tangerine and now there is a lump on one of my toes. The entire foot is deformed. I haven't worn heels in years and can't run. No one seems to know how to help me and I know that it is getting worse...I can feel it. I am so scared. I am sick of all the pain. Please help me if you can. I would love to run with my son. I have never done that before...I couldn't. Please help me if you can. Update added 8/10/03: I have recently found a new lump growing on the back of my left ankle. The lump on my right ankle is growing and the obvious deformity of my right foot, ankle and toes is getting worse. I don't know what I will do if my left ankle gets as bad as my right. Do I go on disability or keep working and wait this bone disorder out? I am feeling more frightened than ever. If you have any suggestions please email me. God Bless! Update added 1/15/06: Hello. I first placed my personal history on this site in 2003 and since then the melorheostosis has gotten much worse. The lump on my right ankle is the size of a baseball. Praise God that there was no melorheostosis found in my left foot but doctors are still unwilling to touch this large lump. Does anyone have any suggestions for a doctor skilled with this disease? Update added 6/28/10 My name is Michele Santiago DiStasio. Formerly of Edgewater NJ and now is Washington, NJ. Birthdate: Oct 25, 1973 Diagnosed: Sept 1996 Since my last post the pain has increased to an unbearable level. I now have a deformity on my right knee that my PCP thinks may be a progression of melo. The pain in my knee and ankle are ridiculous. I get a shooting pain in my toe that is debilitating. The lump on my right foot is radically larger than it was previously. Walking, sitting, standing, putting it up, wrapping it, ice, heat, pain meds, physical therapy, rocker boot...none of it alleviates my pain. The pain doesn't allow for a decent night's rest. I wake up up to 8 times a night in pain. My doctor is sending me to a specialist at U Penn and for more testing. He says that I need surgery. I pray this works. |
| Beverly | M | 2001 Update 2006 | Noble | IL | USA | Left foot femur and hip | My name is Beverly Morgan. I am 33 years old. I live in Noble Illinois. I have been diagnosed with Melorheostosis in my left femur and hip area as well as my left foot around the big toe. I had my first surgery on my left foot when I was 13. At the time the doctors did not know what I had. The surgery did not help. I still have continual joint pain and stiffness around the area by my big toe. I recently went to see a specialist in Indianapolis and it was that Dr. who made the Melorheostosis diagnosis. I have a lot of pain and stiffness in all my joints and a almost constant dull achiness around my hip and leg area. I find that extreme cold as well as stormy weather also increases my pain and stiffness. I recently have been having trouble with pain and stiffness in my hands and arms and will be going to Indy on the 10th of this month to see if it has spread to my arms and hands. I have some difficulty getting up and down because my knees and hips lock up on me at times. The biggest problem I have with this is the pain is a nuisance. I try to stay active and move my limbs as much as I can. So far it doesn't limit me but at times it slows me down a bit. The most frustrating thing to me is the lack of information out there about this disease. I was so happy to find this site. I have started taking a good vitamin as well as taking royal jelly, I'm not sure if this will help but I figure it can't hurt. I have found nothing over the counter that helps with pain thus far. I do not want to be on pain medicine. I also believe one must keep a positive attitude with this. This site helps to be able to talk about ideas and frustrations about this disease. Beverly. New information added 1/11/06: I'm updating my history. I am now 38 years old it's been years since I was diagnosed with melorheostosis. I had surgery on my left foot at the age of 13. They shaved the bone and I lost some flexibility in that foot joint. I still have pain. I've learned to deal with the pain; I've probably been on about every medicine imaginable. I have also been diagnosed with arthritis and the combination of the two makes it difficult. My left femur and hip area give me the most trouble with pain and limited flexibility. The pain seems to become worse after sitting for long periods of time. I have a lot of numbness and also a great deal of difficulty sleeping. It is so hard to get in a comfortable position that it's next to impossible to lay on my left side, which is affected by this disease. I am a strong believer in keeping a positive attitude with this disease. This website helps a lot. I live in Olney, Illinois. |
| Kim | W | 2006 | Powder Springs | GA | USA | Right hand middle finger and wrist | Started with a lump on right middle finger below the knuckle at age 14. At age 15-16 had biopsy of the area. It did not grow back. In my 20's developed more lumps in the same finger above the knuckle in two areas and in my 30's developed lump on my wrist which prevented me from bending my hand back at the wrist. Three weeks ago I had surgery to shave the two lumps off my finger and wrist. Hope to have stitches removed 1/3/06. Hand still swollen at this time. |
| Beth | B | 2005 | Lexington | NC | USA | Right foot and ankle | My name is Beth. I am 28 years old and have been diagnosed with melorheostosis since I was 25. How I found out about this disease was this: It was August of 2001. I had a 5 month old puppy that I was taking out to potty when I slipped on the stairs and fell all the way down. When I hit the floor, I thought I was really in trouble, as I thought I had broken my leg since I couldn't move. As I laid there on the floor, I prayed to God that if he let me get up and move around, I would be more than willing to do anything He wanted. Several minutes later, I got up, and through pain the next day, I went to work with a limp. I was in HUGE pain but didn't know that it would turn into something AWFUL. I was taken to "Medchoice" by a co-worker, where they really couldn't tell me much, except they thought I had bone cancer. At that time I thought, "my life is over, I am 25, I can't have cancer." Later that week, I was referred to Dr. Sims Riggan, an Ortho, here in Lexington. After a puzzled look, he referred me to see Dr. William Ward at Wake Forest University Baptist Medical Center. Dr. Ward saw me the very next week and said, "you have a rare disease called Melorheostosis." The disease is so rare, that there are only about 1 in a million." So I sat there thinking, "if there is one in a million, how come I am the ONE?" By 2003, the tumor in my foot had tripled in size. There was literally a baseball growing in my right foot where the arch was supposed to be. In late June of 2003, Dr. Ward scheduled me for surgery to remove the extra bone. The surgery went fine, but while in the hospital, I developed an infection called Pseudomonas. Though like a Staff Infection, this one is much worse. My foot was filleted back open in August 2003 and I spent 2 1/2 months flat on my back, receiving 24 hours of antibiotics through a pickline in my left arm. After recovering some what from that experience, in October of 2005, I went back to Dr. Riggan asking him for a referral to Duke Medical Center in Durham, NC for some HELP! On November 2, 2005, I saw Dr. Brian Brigman who once again told me that I had Melorheostosis and it had grown back, only this time, it is about the size of an egg, and it is in my heel, and one about the size of a golf ball, which is right above my ankle bone. Surgery is risky. If I have the surgery, I am at a greater risk of getting the infection again, so now I will be wearing special shoes for the time being. I will return to Duke the week of November 7th to receive an MRI to see if the Melorheostosis has spread and how much. At this point, there is really nothing that can be done. I am consulting with a doctor at Johns Hopkins in Baltimore, Maryland to see if I may have any other options. Please feel free to email me, I would love to hear from other people who have the same disease, at least, to say I am not alone. |
| James | H | 2005 | Koln | GERMANY | Middle finger of right hand (bump on right side, just below the mid joint) | Symptoms: stiffness, pain Diagnosis: developed symptoms in 2000 at 30 years of age; diagnosed in 2002 by x-rays. Treatment: I have not had any treatment on my hand. When it does hurt upon occasion I usually take Ibuprofen. Background: Discovered (!) a bump on the middle finger of my right hand around 2000 (age 30). Thought nothing of it initially. Thought it was a bruise or other accident related bump. After a few weeks, when it hadn't gone away, I became concerned. At this point my whole right hand would feel tired when I woke up, but the tiredness would pass later in the day (perhaps the hot shower soothed it!). It took me over a year to finally see a "Specialist," he was a Sports Doctor if I recall correctly. He x-rayed it and then forgot to give me the diagnosis. So it took another year to finally track down what the diagnosis was from the hospital archives in UCSF Medical Hospital! By then I had married a Radiologist who looked at it for me and also looked at my UCSF X-Rays and gave me a diagnosis. Both my (mainly) middle finger and hand tendons had a coating of melted wax like bone residue and this appeared as a white concentrated area in the X-Ray. I have noticed a weakening in my right hand in the last few years. (Shaking hands in Germany is a painful experience as here the firmer the shake the more 'manly' you are. That's all fine and dandy, but I thought I was becoming a woos as my hand would ache/hurt after every handshake, until I realized perhaps it was due to the Melorheostosis!) Now I have begun to notice that my wrist (right hand) is also starting to hurt on the left side, when I put any pressure on it. I hope this is not related as it is still a new pain, but I had an X-Ray done this morning and my wife tells me that my fingers and hand look the same as the last X-Ray (in 2000, but that was not as far down as the wrist), but a concentration of bone is showing in the pained wrist area. So now I'm becoming concerned again. Comments: I am really glad to have discovered this website. I was told that this is a rare condition and not many doctors come across it or know how to treat it. Reading some of the other Personal Histories it is sad to know that other people have a far more extensive condition than mine and yet very little is known about dealing with this condition or offering an effective treatment. Any advice regarding symptom relief and treatments available would be greatly appreciated. |
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| Anthony | S | 2005 | AK | USA | Right Scapula, (L) 5th & 6th Ribs and (R) 3rd & 4th | I was diagnosed with Melorheostosis about 14 years ago. I was diagnosed because of a freak accident playing basketball. My shoulder blade had broken at which time the x-ray had shown a lesion in the shoulder blade. I am in the United States Air Force and was sent to Bethesda Maryland for an evaluation with Dr. Gitellis, Professor of Orthopedics at St. Louis Presbyterian Medical Center in Chicago, who was a Reservist called to Active Duty back in 1991. He performed surgery which came back with the diagnosis of Melorheostosis. Since 1994 I have been followed by Air Force Physicians with multiple visits/surgeries (9) to San Antonio, Texas to Wilford Hall Medical Center to see an Orthopedic Oncologist, Dr. Theodore Parson. While Dr. Parson has been extremely helpful and looked out for my best interests over the years this condition/tumor has now spread into my ribs (L) 5th-6th and ( R ) 3rd and 4th and the pain is getting worse and I feel he is limited as far as knowledge goes since I am the only patient he has seen with this problem. I have tried simple anti-inflammatory medications but nothing for pain management. I would like to get some feed back if possible regarding this condition to include any medication if at all to stop the spreading or relative pain medications that have helped others. I have averaged about 1-2 hours of sleep (consecutive hours) a night for the last 12 years. This tends to get old after a while. Thanks! |
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| Alaina | K | 2005 | Charleston | SC | USA | Left hand and wrist | My name is Alaina. I am 23 years old, and currently reside in Charleston, South Carolina. I have recently been diagnosed with melorheostosis in my left hand (4-5 digit) and wrist. I have had some pain and swelling in my left hand for some time now and have been seen by many doctors in the past. I was told at first that it was just a tumor, yet when the pain got worse I was sent to a rheumatologist. This doctor told me that it was just a cyst. Following this diagnosis my original doctor sent me to a neurologist. He said that he did not know what it was but that I have some nerve damage to my finger tips and wrist due to the abnormality to my hand. Finally my husband and I moved to S.C. due to his job, where my current doctor looked into my hand abnormality and x-rays and today diagnosed me with this rare bone disease. My doctor also referred me to this website. I am currently waiting to see a hand specialist my doctor has referred me to. I have pain and stiffness in my fingers and wrist. I often have little or no feeling in my finger tips. He has given me an anti-inflammatory but says there is little more he can do. I would love any additional information anyone could send me on this disease or things they have found that eases the pain. Thank you. |
| Roy | S | 2005 | Ontario | CANADA | Left and right tibia and fibula; left foot; both hands | My name is Roy and I am the brother of Dawn D., also from Ontario, Canada. The areas that are affected: both left and right tibia and fibula, thickening of the cortex of the 4th metatarsal of the left foot; endosteal cortical thickening in the metacarpals of the hands bilaterally, particularly the right 3rd and left 3rd metacarpals. I was diagnosed in 1995. I have not taken any medication. I am very active, play hockey, and do a lot of walking. I am also blood type AB+ like my sister. I will help my sister. I am getting updated x-rays. | |
| Patrick (Mother- Francene) | P | 2005 | Harrison Township | MI | USA | Left hip (pelvis) and left lower extremity | Patrick is a triplet, who came into the world prematurely at 29 1/2 weeks. He has an identical twin and a fraternal twin, neither of whom have the disease. After birth at 2lbs. 12 oz., he remained in the NICU for 6 weeks. He was on a ventilator for 3 weeks, and oxygen until 4 days prior to his discharge at 3 lbs. 15 oz. Patrick was, and still is to this day, the last of "my bunch" to accomplish his developmental milestones. He was the last to roll-over (6mos.), sit up (9 mos.) and walk (15 mos.) At 19 mos. he was assessed by our ISD at being severely mentally retarded (4-6 mos. developmental age). We had him tested for epilepsy and autism, both of which were negative (although we were warned it was probably too early to be testing for autism). His brothers (Tommy and Nickolas) were, respectively, 3 and 6 mos. ahead of him developmentally. All 3 were speech delayed and had gross motor problems from the beginning. After extensive intervention programs, the boys rallied. Patrick outgrew a Stage III retinopathy, all 3 began talking (non-stop!) at 3 1/2 and potty trained at 4 years. They walk, talk, and act, at 5, like their classmates, and will start Kindergarten next week. Patrick now weighs 40 lbs. and is 44 inches tall (50% for his age in weight and height). Patrick has always moved a bit slower than his brothers, and we attributed it to "the pattern" of development in our group, and waited (of course, while in physical therapy.) Starting at about age 3, Patrick would limp on the left foot every 6 mos. or so for 4-6 weeks. We would have him x-rayed at 2 weeks (per our pediatrician), find nothing, begin worrying at 4 1/2 weeks. We would run back for more x-rays, only to have him stop limping 10 days later. This "cycle" took place three times. At about 4 1/2, he twisted his left ankle and started limping again. After 2 weeks, my pediatrician recommended an x-ray. It returned "normal," and Patrick continued to limp and complain of pain. After 6 weeks, our pediatrician recommended more x-rays, this time extending to the pelvis. The chief radiologist at St. John Hospital (Dr. Fred Cushing) noticed the abnormality and consulted with Dr. Henry Bone, another specialist in the area. They agreed that a diagnosis of mixed sclerosing bone dysplasia was "most" correct. Not 100% happy with the diagnosis, the skeletal survey was forwarded by Dr. Cushing to Dr. William McAlister (Chief Radiologist at Children's Hospital in St. Louis). He was the first to suggest that the disease was "most likely" melorheostosis. At our appointment today with Dr. Mott at Children's Hospital in Detroit, he agreed with the suggestion. Patrick has had no surgeries or treatment. All of the doctors who have seen his films have told me that there is no cure, and surgery is only used to alleviate pain. Patrick is a happy kid that, right now, can't run anywhere near as fast as his brothers. Is there anything I can do to help him? Any physical therapy, or stretching techniques, that will keep his joints a little more flexible? What will happen when he goes through puberty? Does this disease spread? Is there a specific test available to diagnose this disease? I have so many questions and am so overwhelmed. Any information and suggestions would be such a help. |
| Donna | B | 2005 | Austin | TX | USA | Left hip and foot | In approximately 1969, I began having increasing pain in my left foot following an injury. I was diagnosed at that time, through x-rays, with melorheostosis. I saw several doctors over the years and the pain increased as the bones were fusing. I had to give up running, but continued to walk for exercise. My foot began caving in and I was told that within 5 years, it might be totally prolapsed inward. In 1986, I saw Dr. Hughston at the Hughston Orthopedic Clinic in Columbus, Georgia. He told me to never let anyone cut on me except as a last resort, since the disease was so rare and it was not clear the effect that surgery would have on the progression of the disease. I am happy to report that the disease process in my foot has not progressed for many years and I am still able to walk with minimal pain. I think it is because the bones are now totally fused. The disease was not diagnosed in my hip until 1991, after I began experiencing pain while taking tae kwon do. That disease process, too, appears to be in remission during the past several years. For the past two years, I have had intermittent, shooting pains along my left tibia. Following a recent MRI, I was diagnosed with medial tibial stress syndrome, but, after reading the other personal histories, I am wondering if that, too, is not a manifestation of the disease. I was delighted to find this website as I, too, have never met anyone with melorheostosis. |
| Katie | 2005 | Memphis | TN | USA | Left hand | I was diagnosed 10 years ago. The disease has spread to other fingers on my left hand. On a scale from 1 to 10 for pain, 10 being the worst, the pain would be a 10. Just to touch my hand is very painful. I'm having trouble picking up things. At the time I was diagnosed, my doctor said he couldn't do a thing. What I'm really worried about is movement of my left hand. I do a lot of typing and working in my garden. I have found that keeping heat on my hand helps for a while. |
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| Stacey (Mother- Terry) | 2005 | Milltown | NJ | USA | Right leg with severe ankle and foot contractures | Diagnoses: 1) melorheostosis 2) Buschke-Ollendorff syndrome 3)combination of osteopoikilosis and connective tissue nevai Personal History: Stacey was born in 1988, and there was nothing unusual apparent at birth. However, during her growth stage at 18 -24 months, I noticed a small "dimple" centered in the bottom of her right foot. During these 6 months, not only did the dimple deepen, but her shoe size became 1 1/2 sizes different, and from her ankle to mid calf, and again in her knee, she developed severe joint contractures. At the same time, very rapidly, there became apparent clumps of connective tissue fibroblasts that adhered to her foot and knee areas. She also had a very deep sacral dimple at the base of her spine. The doctors thought it was a tethered spinal cord that was drawing up the foot, but it was not - just an odd coincidence. A skin biopsy and x-rays were taken. We were very fortunate to be diagnosed correctly fairly early on (she was 4 years old by then ). This confirmed that she had Buschke-Ollendorff syndrome - a skin biopsy confirmed the connective tissue nevai (very rare) and x-rays confirmed osteopoikilosis. At the same time my husband, Harry, was diagnosed in the same manner as having BOS. He had large areas of skin abnormalities (opaque, whitish/yellowish oval skin papules that show up if the light hits them a certain way). However, Harry had no pain with his condition and Stacey did. She was referred to Dr. Denis Drummond, Chief of Staff of Ortho at Children's Hospital in Philadelphia. He diagnosed her as additionally having Melorheostosis, and confirmed that by x-ray. He co-authored a paper in the late 1970's on melorheostosis, had a hunch, and he was right. Genetics and Dermatology Depts. at CHOP were also involved - they had never seen anything like it. Stacey had biopsy done, and then went on to have several operations involving soft tissue release stretch. These would ultimately fail. Meanwhile, the contractures were getting worse and worse, and the leg length discrepancy she was developing was projected to be more than 4 1/2 inches when achieving adult height. Also, her foot/ankle continued to get worse, and grew into a straight "drop down" position. The only way she could walk was with a 3 inch exterior lift, and a custom molded interior lift. She could only wear high top boots, because she needed something to accommodate the interior lift. When she was 7, she was placed in an Ilizarov immobile fixator after anothersurgery- but was only in it for 6 weeks. Turns out not nearly long enough. At age 9, a partial amputation was suggested. Could not bear to do it, was always hopeful that medicine was constantly evolving, there had to be a better solution, and if that was ever the answer, it would be her choice when she grew up. Their reasoning would be "no more surgeries and no more pain" - but so final.... At age 10, we were fortunate enough to be referred to Dr. Dror Paley in Baltimore, Md. (Dr. Paley does nothing but ortho related problems, and he heads the International Center for Limb-Lengthening at the Rubin Institute for Orthopedics at Sinai Hospital in Baltimore, MD. He was familiar with melorheostosis, and fortunately for us, we met him at a crucial stage in her growth. He immediately operated on her left leg (no problems there) and removed the growth plate. This helped also, because then her leg differential became about 3 1/2 inches. She continues to be in his care to this day. He is the leading surgeon in this country for what they do, and they have done over 5,000 operations now. Her "Major" surgery (she's had 7) was to undergo the Ilizarov Fixator surgery again. It is too long to go into here, but basically the fixator is attached to the bones, and you do 1/4 turn rotations with a screw connected to the pin sites a day, and you gradually get correction. Dr. Paley said when she was in the fixator at CHOP, it wasn't on nearly long enough. This time, she was in the fixator for 10 months and underwent a lot of physical therapy. It helped a lot, and it did change her foot from a "drop down" position to a position where she can insert her foot into a shoe (her right foot is still about 4 sizes shorter than her other foot) and it did eliminate the need for an internal lift. However, it is now frozen in place just like before and right now she walks with a 3" exterior lift only. Unfortunately, the joint contracture is so bad in her ankle area, that she developed a vascular problem. So the foot is frozen in place, and she is still on the medication Neurontin, but she seems to be able to cope with the pain on a daily basis. She was scheduled for more surgery this June, this time to operate on her good leg again and take away 2 inches (the max they can do) and thereby reducing the differential to 1 1/2 inches between the two legs-- but we are delaying it until next summer, after her junior year in high school, because we are flying to St. Louis for the Melorheostosis Conference. We are looking forward to meeting everyone. She decided to have the operation next year because we felt the conference was more important especially in view of the melorheostosis gene being discovered. The one thing I want to say is, thank you to all who have developed this website. The Single, Biggest, Frustration in traveling this journey was the LACK OF INFORMATION AVAILABLE. When we were going thru this, we were told that there were only 72 medically known cases in the world (this was back in 1992 - before the internet, before websites, and there was little or no info available on melorheostosis or BOS.) Sorry for taking so long to write this, but wanted to try to summarize so far a very long journey in a young lady's life. Hope this helps, and looking forward to communicating with others. Thank you! |
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| Stephanie | 2005 | Seattle | WA | USA | Left forearm | I have had several doses of disphosphonate (I think that is what it's called) which were not effective. In November, I had surgery to have the affected bone shaved down because it was interfering with my nerves and the function of my hand and was becoming progressively worse. It seemed to be helpful for a few months but now the pain has returned to the same level as before the surgery and the bone did not heal and remains very fragile and painful. I am looking for a doctor/surgeon in the Seattle area who knows about this disease that I can consult with and discuss other treatment options. |
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| Lindy | 2005 | Johannesburg | SOUTH AFRICA | Both shins below knee | My problem started with a visible lump on my left shin as well as night pain in the area. I went to a doctor who did bloods and x-rays. The tests showed what appeared to be tumors. The orthopedic doctor referred me for an MRI scan and bone density tests which then revealed a tumor on the right shin as well. I was referred to bone tumor unit in Pretoria. The doctor immediately scheduled a biopsy on both legs and discovered it was Melorheostosis. Dr. Frantzen was the specialist who is happy with my progress and said that we only need to come back if pain recurs or there are any other problems. Presently, there is occasional pain but all seems ok, thank God. A concern is what could go wrong in the future and who to turn to for answers. Will other parts of the body possibly be affected? I am doing gym and sometime have pain in the areas. I was really pleased to find this site and read other patients comments and experiences with this disease. |
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| Cindy | 2005 | Colorado Springs | CO | USA | Left femur | So far, I've had 16 joint surgeries including: total left knee replacement, ACL right knee, 2 arthroscopies on each knee, three on right shoulder including 2 rotator cuff and one calcific tendonitis, hysterectomy, and appendectomy. I had a terrible fall the day before Thanksgiving (Nov. 24) directly on the left knee and have had extreme pain ever since with edema. For years I have had pain in both legs that has gone undiagnosed. The doctors always say lose 30 lbs. and the pain will go away. Right. In seeing a new doctor about replacing my left knee again, he saw the candle-wax appearance of melorheostosis and has referred me to the only specialist in Colorado that seems to understand what it is. Amazing to me how few doctors have ever heard of it. |
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| Terri | 2005 | Del Rio | TX | USA | Right shin just below knee | I have had "mystery" pain in my right knee/shin on and off since I was a teenager but it was always written off as overuse syndrome from running and other sports in high school. I always just "pushed through the pain." After running the Marine Corps Marathon in 2003, I was diagnosed with what they initially thought was bilateral stress fractures in my shins. A year and multiple x-rays, bone scans, CTs and MRIs later, I was diagnosed with melorheostosis by an orthopedic oncologist (thank God it wasn't cancer, right?!) No more distance running to say the least.. |
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| Tara Lynn | 2005 | Cardale | PA | USA | Right leg | I'm 29 years old and I was diagnosed a few years ago. It first started with what I thought was a sprained ankle, which I got playing volleyball in the 8th grade. It never healed correctly, so I kept going to the doctors; I have been to a chiropractor and podiatrist. After it was discovered that I had this bone disease and was told that there was nothing that could be done for me, I never went back to see the doctors. It is so bad right now that I walk with a limp and on the side of my foot. I would like to find a doctor in my area that maybe could help me deal with the pain. | |
| Samuel | 2005 | Sedona | AZ | USA | Knee and lower leg | In knee and lower leg experience pain like an earache, usually lasts 5 - 7 days; use naprosyn to reduce swelling, usually take no meds for pain. Dr. Kenton S. Horacek, Santa Monica, CA diagnosed in 1984. No surgeries, although I am considering. Anyone know of a doctor in Arizona? I am happy to have found this site. FYI, I have a friend who has it too, in his hip; he has had hip replacement done. |
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| Jonny (Mother- Glenda) | 2005 | Philadelphia | PA | USA | Right foot | He was diagnosed in 2002 with melorheostosis. I had noticed his foot wasn't growing, it was 3 sizes smaller then his left foot. I told his doctor and she sent him to a podiatrist. That was where they told me about his disease. He got surgery done soon after that. That was the most painful surgery I think I have seen, it lasted 8 hours. He was in such pain that I would cry just seeing him suffer. He was in a cast for 3 months. After his scars had healed he was unable to walk well and he was in constant pain. He was in physical therapy for a year. He gave up the therapy because it was painful. Now he walks just a little straight but he feels pain all the time. His foot is not growing like the doctor said it would. He hates his foot because it's deformed. Sometimes I think I made the wrong decision by letting him have the surgery. He's only twelve now and he likes sports and he gets mad that he can't play sports. | |
| Dawn | D | 2005 | Toronto | CANADA | legs, feet, hands, right wrist, rib, back and skull | I was diagnosed at age 33 after a bone biopsy. 13 years old -- pain in both legs from knees down, crying in pain; continued on and off. 16-17 years old -- left leg collapse, no feeling; leg comes to back normal after time. Pins and needles in left leg on and off. Leg started collapsing 2-4 times a year from 1978 to 1986. In 1988 I had knee surgery to see what was the problem. Everything ok. After surgery, collapse started happening again 3-6 times year. Sometimes pins and needles were really bad. I could be walking along, lose the leg and go down on the ground; no warning at all. It would be like having the leg amputated. It is always the left leg. I had a bone scan when I was younger and they ignored the findings. I had a bone biopsy 1994 and found it was true I had melorheostosis. I then found out it was in both legs, feet, hands, right wrist, rib, and in my back and also in my skull. I suffer from stress seizures due to muscle spasms, swelling of hands and feet, stiffness so that it is hard to start move until you get moving a little. I walk with a gait. Was on didronel 1400mg for 2 years then moved to fosamax. The disease seems to stabilize. I had left foot surgery so I could walk without a cane. It helped. It has been 3 years and the bone is growing back. I am still walking with limp, walking on the side of the foot, but not as bad as before. The leg still collapses, muscle spasms yes. Pain, yes. I go to pain clinic and take fosamax right now. Fosamax does help stabilize the disease in my case. Been a long road. Pain clinic is a very good idea. |
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| Wim | 2005 | HOLLAND | Right foot, right tibia and fibula | I was diagnosed as a new-born baby. Just today, this site discovered. In the next weeks I shall make a chronological story of my life with melorheostosis. |
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| Kent | H | 2005 | Kerrvile | TX | USA | Right tibia | 1. Onset: Right Tibia -- I noticed maybe when I was 10-11 but my parents did not notice it until I was 13. Examination and X-rays. (1960) 2. 1961 was not allowed to play football. Severe pain when "knocked." 3. Various visits and x-rays, deformity increases in size and changes shape with the tops of socks creasing and "denting" the soft tissue. 4. 1967 rejected for Naval Service after 10 days in the hospital; seen by many doctors. 5. 1969 rejected by Selective Service. 6. Followed by Arkansas doctors 1971-99; slow increase in size; pain following any strenuous use. 7. 2004 started very aggressive exercise program, including inclined leg presses. Only pain is when muscles in front of the tibia retract around the tibia and then spasms of severe pain lasts for days. 8. Pain can be described as such: a. "Ice pick" .... like someone jammed an ice pick in your eyeball .small and severe b. Hatchets where the pain is more severe but you can still walk...; reoccurrence is every 30 seconds c. Swords can be debilitating and the only solution is bags of ice stuck down in my western boots. Reoccurrence is every 30 seconds lasting 5 to 10 seconds. d. Axes .... is so severe that nothing but a 5 pound bag of ice left on it all night will stop the pain and the pain is way off the charts... The leg ceases to operate as the pain wipes out the messages from the brain to walk..... Otherwise there are few symptoms and I have been reasonable blessed with the leg's use for 57 years. |
| Samantha Jo | 2005 | Aurora | MO | USA | Left hand, arm, shoulder blade; a little in spine | I was born with it as far as we know. We noticed when I was about 8, when softball starts getting to that point where you should be able to catch simple throws and pop flys. I was playing at a game, and I got a perfect pop fly. I caught it, and the glove went with the ball when the ball kept playing. And then we started noticing the little things that I couldn't do, such as write, open cans, jars, bottles. And even picking up small things became a problem. When I got a little bit older, I couldn't make a fist, or even make a "three" with my hand, because my fingers wouldn't go down all the way, and when I made a "three" my thumb didn't touch my pinky. A few years later, band became a problem, because drum sticks, and mallets are held funny, because I have to make it to where the sound is evened out, and that it's comfortable for me to hold, and be able to play for a couple of hours when band camp came up. And when I tried out for baseline, I didn't make it, because I couldn't rotate my wrist like it's supposed to. But mallet percussion, and the cymbals have become my best friend in band. LoL! Typing is sometimes a problem, because I hit the wrong letters. I've learned to type with my hand being the way it is. It hasn't affected my shoulder, elbow, or back any at all. Ever since I was in the 6th grade, I've been going to children hospitals, and have become the lab rat for them. I like it, because I have learned all of these new facts about it and I get to go on all kinds of trips with my doctors and my mom and dad. We go to all the clinics that they need patients to go to. |
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| Sheryl | J | 2005 | Rib, vertebrae, spinal canal | My name is Sheryl and I am 32 years old. I was recently diagnosed with Melorheostosis. I was in a car accident which caused damage to my spine so they were taking an MRI and found what they think is Melorheostosis. They cannot come up with any other explanation for what they are seeing on my MRI and they have now diagnosed me with this. It has consumed one rib, vertebrae and in my spinal canal. My Neurologist said he has never heard of it affecting the spine before and I would be the first that he knows of. He had no information to give me except that if it continues to grow they will remove my rib and vertebrae and try and take it from my spinal column as well. I have pain in my back where it has been located and have not been given any prognosis or answers as to what to do, where it is from and why. I have tried to research it but there just isn't any information out there, especially no one seem to have it in their spine. |
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| Marie | M | 2005 | Providence | RI | USA | Middle two fingers of left hand | When I was about 9 years old I started to notice a bump developing on the inside of the second joint of my left ring finger. My family and I thought that perhaps I had unknowingly injured it, but when it didn't go away, we became curious and consulted a doctor who thought that it might be some sort of arthritis. Although it was awkward, it did not hurt, so I didn't pay much attention until I started to develop another bump on the joint of my middle finger directly opposite the first one. This one started growing in my late teens and, unlike the first one, was and has been painful fairly constantly from the beginning. It is also much larger and grows both up and out. The fingers are very splayed and resemble the "live long and prosper" sign from Star Trek. I have some limitations on the movement of those two fingers and my left hand (non-dominant), though I do make my living using my hands (I'm a book binder). About 12 years ago, when the second bump was really giving me more trouble, I want to see a hand specialist who very excitedly diagnosed me with melorheostosis and told me that there was nothing that he could do for me. He did say that the condition was very rare (about 400 known cases at the time) and that it was not thought to be genetic. That's pretty much all that I knew until finding this website. In reading through the personal histories I realize that my case is very limited and I feel great sympathy for those whose condition is more widespread. Perhaps this site will be a factor in some day finding ways to treat melorheostosis. Thanks to all who established this site and who contribute to it. UPDATE: May 12, 2006: I want to add that I had surgery this past February for the melorheostosis in my left hand. My surgeon was Julia Katarincic who works out of Rhode Island Hospital and is affiliated with Brown University and University Orthopedics. I decided to have the surgery because my fingers had become very stiff and painful and I felt that the possible advantage outweighed the possible risk. In my case, the melorheostosis is very limited and occurs without osteopoikilosis or Buschke-Ollendorf. My feeling is that the procedure was mostly successful. My surgeon described the bone that she removed as extremely hard and requiring a much bigger chisel than what she would normally use in this area. In addition, she made a decision to leave a bit of the diseased bone because one of my tendons was attached to it and she felt that since my main goal was mobility, trying to remove and replace the tendon would seriously compromise that. Since the surgery I have had extensive rehab with Karen Carney at University Hand Therapy. Although my fingers were very painful and swollen at first, the therapy has given me much more mobility than I would have expected. I still experience pain, but not to the extent that I did. The swelling has mostly subsided and though my fingers are still fairly uneven, I don't have the large knobs that I had before. I have been back at work as a bookbinder since about 7 weeks after the surgery and have had no problem with that, nor with playing guitar (I was always pretty limited there anyway, but mostly by lack of talent). I did also arrange to have my tissue sent to Denmark to Dr. Geert Mortier's lab. The last I had heard, the samples had not arrived in good shape and the lab didn't know if they could be cultured. I was disappointed to hear this as donating the tissue was very important to me. There is still some chance that they were able to use some of the samples, however, and if that's the case, I hope that they can contribute to learning more about the origin and treatment of the disease. Many, many thanks to Lyn Pickel for helping me in the lead-up to my surgery and for putting me in touch with Dr. Mortier's lab. Lyn was tireless in helping me to bank my tissue and in her support and encouragement. |
| Pilar | C | 2005 | Houston | TX | USA | Left legs and arms | Pain and swelling on my leg and later on experiencing pain all over and getting worse. Treatment -- pain medication and steroids. Consulted a neurologist, rheumatologist, and orthopedic doctors. |
| Peter | H | 2005 | Tauranga | NEW ZEALAND | Second and third toe of left foot | I was born in the UK, but have lived in New Zealand since 2002. I have memories of pains in my feet as a teenager; the doctor put it down to 'growing pains.' In my twenties, I used to get a swelling to the underside of my left foot, often after playing football (soccer), which developed into a permanent lump, often making walking painful. Further visits to doctors and finally an appointment with an Orthopaedic Surgeon, Mr. Angel at the Royal National Orthopaedic Hospital, London, led to Melorheostosis being diagnosed. A boney growth fusing together the second and third toes and the telltale 'candle wax' to both toes was evident from x-ray and MRI scan. I had my first operation in 1994 (aged 31) to 'shave' this lump, at the RNOH, a very run down old isolation hospital. Situated on a hill, it was also not well suited for orthopaedic patients, but I was reassured that this was the best treatment I could get. However, I could not be told whether the lump would regrow or not. Needless to say it did, along with further thickening of the second and third toes. A further operation in 2000 to shave the bone again and possible amputation of both toes followed. Fortunately (the surgeon said miraculously), amputation was not necessary due to good blood circulation. I have recently seen an Orthopaedic Surgeon who specializes in 'the extremities' here in Tauranga, NZ. I am waiting for an MRI scan which in the next couple of weeks should confirm surgery options. My toes are now abnormally large and the lump has returned. He is proposing the amputation of the second toe, removing the lump of bone and reconstructing my foot to a more normal size. Obviously this would be a big step for me. Has any one advice or comment on this proposed procedure? It is a major relief to find this website and humbling to discover that so many people have this disease worse than me. I can get shoes to fit and ibuprofen manages the pain, so unless I am wearing open toe sandals, the only outward appearance is a slight limp. I still manage to play a bit of vets soccer, so I should be grateful, I guess. Thank you for all of you involved in maintaining this site, you never know I might even make it to the conference! |
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| Sandra | 2005 | Louisville | KY | USA | Right side from hip down | Hello, my name is Sandra Stephenson McNeil. I prefer "Sandy." I am a 51 year old woman living in Louisville, Kentucky. I have been dealing with the effects of Melorheostosis for 40 years. I was born and raised in Louisville, Kentucky. When I was in the seventh grade (around age 11 or 12; approximately 1964), I had trouble running laps in gym because my left ankle would hurt so much. Since my father was in the service, my parents took me to Army Ireland Hospital in Fort Knox for a checkup. When I spoke to the doctor, I also told him that I had been waking up often during the night with shooting pains in my right leg. We never again mentioned my left ankle and it never bothered me again. They took lots of x-rays and then apparently called some sort of staff meeting of the hospital. When the doctor came back down and found me running around the waiting room, he very sternly told me to sit down and not to get up again. That’s when my whole life changed. At that time, they diagnosed me with Fibrous Dysplasia, a disease where the bones resemble a sponge on x-ray and are apparently very fragile. I went from tom boy to couch potato overnight. Since they felt the bone was so porous, they placed me in a full weight bearing brace saying that the bone could break very easily and if it broke, I would be casted for quite some time. I wore that awful brace and others for two or more years, used crutches and became a great hopper. I was followed at Army Ireland for the next couple of years. When I finally got rid of the brace, for the next few years, my activities were only somewhat limited. But as time went on, I had less and less movement in my ankle and any accidental bumping or sideways movement would cause tremendous pain. At around age 19 or 20, an orthopaedic surgeon in Louisville, Kentucky, Dr. Coy, went in and "cleaned out" the bone in my ankle and took a biopsy to try to give me some relief from the pain and to give me more movement. A sample of the diseased bone from my right ankle was sent to the Mayo Clinic. The diagnosis came back as Melorheostosis. At that time there was almost no research that could be found on the subject. (When asked the cause, Dr. Coy, who had a wonderful sense of humor, said “a cosmic ray went through your Mom when she was pregnant.” I took that to mean nobody knows.) I followed with Dr. Coy for quite a few years. I remember at one point he gave me steroid shots in my ankle which did help the pain for a short time. Unless accidentally knocked, my pain was not too unbearable and was something that I just learned to live with. I walked with a minor limp, but it was not bad enough to keep me from waiting tables and bartending. I even enjoyed a little disco dancing, racquetball and snow skiing. At 26, I had a successful pregnancy with a c-section birth (nothing to do with my bone disease). I have a lovely son whose name is Ian (now 24 years old). As far as we know, he does not have a trace of the disease. Somewhere in my mid to late twenties, I had what my doctor thought was a stress fracture. The doctor (in Detroit, Michigan) went in and did an exploratory on my right ankle. During the surgery he damaged the nerves to the top of my foot. He casted me for quite some time and did not order physical therapy which I felt I needed after I came out of the cast. It was around this time that I feel the effects of the disease were really starting to impede my activities. My leg had a sharp outward turn, my ankle was slowly filling itself in and was close to only 10 percent movement, my right foot was somewhat disfigured, I had a flexion contracture of the muscles in my front hip & groin area, pulling my leg up and my pelvis was tilted down and in, causing quite a bit of pain in my back. Obviously, I walked with somewhat of a limp. One doctor (I believe he was at Henry Ford in Detroit) ordered intensive physical therapy with a soft tissue expert. She spent quite a bit of time on me and did help me some. I always carried anti-inflamatories and had regular prescriptions or samples from the doctor. I once asked the doctor at Henry Ford if he had ever seen anyone else with Melorheostosis. He said he had seen one case with it in the end of the finger. I just wanted to meet someone with the same disease I had. I used the name “Melorhe” as my internet name just hoping that someone would notice it and ask me about it. At that time, the doctor told me I should start a website. He said “if you don’t do it, no one will.” I moved back to Louisville from Detroit around 1992 and treated with a Dr. Seligson. He was the only doctor I had ever seen who walked into the room, looked at the x-ray and said, startled, “that’s Melorheostosis.” He used my x-rays to stump his students. After some treatment with him (steroid shots and physical therapy) he felt I should start to consider a hip replacement and sent me to Dr. Lawrence Shaper at Ellis Badenhausen, http://www.ebepsc.org/. Dr. Shaper took interest in my case and dug deep and found better articles on Melorheostosis than I had seen. (At one point he mentioned it appears that Melorheostosis seems to stop or even regress after a certain point as you age). I had always been told I was too young for a hip replacement and in the beginning, he echoed that sentiment. In my early to mid 40's he gave in and we started talking seriously. We had a plan to do the surgery when he came across a doctor that was putting in a different hip. Dr. Shaper suggested I should check into it. After more research, some planning and an appeal with my insurance company, I finally made my way out to the Joint Replacement Institute (JRI) in Los Angeles, California for a metal on metal surface hip replacement. This replacement has a larger ball which minimizes the chances of displacement and “caps” the femoral head which preserves the bone for future surgeries instead of the stem type which more invasive. See http://www.jri-oh.com/hipsurgery/Hip_Types.asp#surface. I flew out to California with my sister, Nancye, on a Sunday, had my first meeting with Dr. Amstutz, http://www.jri-oh.com/meetstaff/Staff.asp and his Canadian fellow, Dr. Beaulé (now an associate at JRI) on Monday and had my replacement surgery on Tuesday. I was told they had to make special tools to be able to drill into my bone. They also did a muscle release of the contracture. After my surgery, Dr. Amstutz said that my hip was such a mess he couldn’t believe I had walked into his office under my own steam. After a reasonable recuperative period, I now have a better gait and much less pain. My leg is no longer turned out as it was before the surgery. The TV news in Louisville came out and did a "before and after" story on me, but it was because of the special hip replacement, not because I have Melorheostosis. I have continued to see Dr. Amstutz once a year since my surgery as he comes out to this side of the world (Chicago or Nashville) to see his clients and I am in a study group for the prosthesis. I am still walking with a limp, but I am walking. I believe my hips are a little more even although I can’t lay flat on my back or my stomach because of the contracture. My ankle has almost totally fused itself and so there is less pain. My ankle looks swollen (but isn’t) and is tender to the touch on the outside of the leg from the ankle bone up about 4 inches. Because of this, my Achilles tendon is tight and my calf muscle is small. My foot and toes are somewhat disfigured (with thickened toenail on one toe) and I could wear about ½ size smaller shoe on my right foot. One thing I have not mentioned is that I do have some of the “thickened skin” places. I have had some removed, but they do tend to grown back a bit. Luckily, mine are not in a visible place. I haven’t used pain relievers or anti-inflamatories, except for occasionally, in years. Long periods of standing or walking are painful and can cause pain throughout the night. I try to catch it early and have been using Aleve. Although with the reports out about it lately, I am looking for something else. I used to be told that there weren’t many cases of Melorheostosis (approx. “60 reported in the last 100 years”), and that I had the “worst case.” Obviously, from a reading of the histories on this site, there are more of us out there (even one in my city) and I am certainly not the worse case. I am happy to talk to anyone who might have questions and am very interested in getting involved with the group. I will definitely show up in St. Louis. I can’t believe I have already missed two conventions!! Bless the creators of this organization and the site for having the strength, dedication and knowledge to start the ball rolling and continue in such a successful way. Bless the doctors and the researchers who are dedicating their time to help those of us with this little known disease. There are so many of us out here that finally feel there could be answers to lifelong questions or that someone out there actually knows how we feel. |
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| Brad (Mother- Lisa) | 2005 | Arnold | MD | USA | Right foot | I noticed my son was standing on his tip toes when he was around 5-6. If you asked him, he would place his heels to the ground. Slowly, this changed and he couldn't place his right heel on the ground without bending his knee. We took him to the orthopaedic foot specialist at our community hospital. He x-rayed and diagnosed it the first visit. He also told me that he had never seen it and suggested that I look around for other doctors for treatment options at a bigger hospital. We traveled to Baltimore and to D.C. and couldn't find a doctor that had seen it. When we were in D.C., they paraded a group of 10 residents in to look at this rare disease that they might never get to see again. One guy actually brought his camcorder. In D.C., they serial casted him for 6 weeks, forcing his foot to flex. We felt very odd there. After the cast came off and he went through months of physical therapy, he was walking on his whole foot again, but with a distinct limp. This stretching of the tendon lasted about three years....and then it started contracting again. We went back to the first doctor who found it and he said to serial cast it again. This time we had him do it. This time it only lasted a year, but he was also 12 and growing 6" in a year, which didn't help the situation. So we decided to operate when he was 13 and this September 2004,the original orthopedist did a surgical lengthening of the Achilles tendon by nicking it 3 places. He did an osteotomy on two metatarsals and repinned them in place. At the same time he released the plantar facia to stop the last two toes on his foot from curling under. The doctor did say that this would probably reappear and that there weren't any permanent solutions at this time. But it would buy him more time to play sports and keep active. After the cast came off and weeks of physical therapy, he started up with the basketball season (his sport) and is doing great. He sprints down court and rebounds for the ball very aggressively. He wore out the first right heel of his sneaker yesterday-he was proud! Throughout these years he has never had pain besides the casting or the surgery. I looked for information on melorheostosis in the beginning and didn't find much at all besides that only 200 cases had been diagnosed since the 1800's. I found this website only after his cast came off and it scares me reading everyone's stories of pain. I'm knocking on wood right now because I know it's only been four months since the surgery and we have a whole lifetime to live with this. I think my son feels good about going through with the surgery right now. I'm praying for him and for the rest of the people who are affected by this for a cure. Please contact me if you have any specific questions about our experience. Added 1/19/05: At the Washington Hospital Center, we saw Dr. Malawer, I think once. When we returned for the serial castings weekly we saw others in his department but I don't recall ever seeing him again. The doctor who did the second serial casting and then the surgery is Dr. Ed Holt in Annapolis, MD, at the Anne Arundel Medical Center. It's an excellent facility that is state of the art. Dr. Holt is an orthopaedic surgeon who specializes in the foot/ankle. |
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| Karl | C | 2005 | Winston Salem | NC | USA | Right foot and ankle | Karl is a 39 year old male in Winston Salem, NC. He received the diagnosis of melorheostosis today at Duke University Medical Center by Dr. Brian Brigman, MD in the orthopedic oncology section. We were referred there by a podiatrist here (Dr. Weinbaum in Thomasville) who thought it could be osteosarcoma. The right foot and ankle are affected. His pain started 17 months ago with a painful mass on the arch of the foot. He went to 3 other doctors before the podiatrist took x-rays and saw the abnormality. He then had an MRI and CT scan of the right foot. We took all of these images with us to Duke Hosp. and we finally have a diagnosis. We have opted to wait to have surgery. I hope a "wait and see" attitude is the right one but that's what Karl wants to do. Please feel free to correspond. Any information is appreciated. Thank you. Julie Cribb, Wife of Karl |
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