Name : Markku Junkkari
E-mail : firstname.lastname@example.org
Adult: 65 years old
Location: Helsinki, Finland
Area(s) affected: Both condyles of left femur and tibia (left ankle and foot).
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!
Trying to outperform my Melo, I am currently setting up an association aiming at improving the overall situation of all the patients with various ultra-rare conditions in Finland. I want their diagnostics and care in the Finnish healthcare system to be more centralized and better documented and less frustrating than is the case today. My dream is also to get at least some cooperation, first of all among the European Melorheostosis patients, and later on between them and the still-to-be-discovered expert community in Europe. For doing that, the platform called RareConnect, created by EURORDIS, will be an invaluable foundation to build on. The brilliant example set by the American Melorheostosis Association is really encouraging!
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