Patients Name

Medical History:  Physiotherapy which was of very limited (if any) benefit.

Personal History:  This diagnosis was concerning for me, as being a sculptor my work relies on my hands but very fortunately I am right handed, so I am able to 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 curling in and thickening of the fingers slowly got worse and the thickened areas have become much harder over the years.

I suffer aching and pain which 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 or hot and humid, and if I have used the hand vigorously in my work. The hand feels very constricted but I am used to this. I am not able to use the left hand properly and as a result the muscles in this hand and wrist are wasted. I type with the right hand only and have found I have adapted to the disability without consciously thinking about it.

As a child I was taken to see a specialist who suggested Dupuytren’s contracture but he was perplexed having never seen this in someone so young. It was only in early 2005, aged 32, that this was diagnosed as melorheostosis after the hand was X-Rayed for the first time. I then saw Professor Paul Wordsworth and Dr Rodger Smith at Nuffield Orthopaedic Hospital who 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 a childhood accident would be of any relevance to this but that he can’t be sure. An osteopath had previously suggested that a whiplash accident I had as a child could have affected the hand through the resultant problems in my neck affecting the nerves to the hand and arm. Professor Wordsworth told me that those patients who develop melo who also have evidence of osteopoikilosis tend to have mutations in the LEMD3 gene. To date patients like me, with sporadic melo, seem not to have mutations in this gene and it is not yet known what is the cause but they are hoping to study tissue from a patient over the next year or two in order to try to understand what is causing the problem locally.

Comments:  Although this disease is very disabling for some, it is also bearable and not so bad for others like me. Luckily I am right handed and clearly it is not as bad being in a hand rather than in a weight bearing foot or limb. I found the period after diagnosis the most stressful, to an extent that it became worse than the disease itself. I would encourage those recently diagnosed not to be too scared by the worst cases on the internet and rather wait to discuss your individual case with a specialist. The discussion board on www.melorheostosis.com can also be helpful and comforting to share your experiences with other patients and to ask questions.