THE DYSFERLINOPATHY JOURNEY
THE DYSFERLINOPATHY JOURNEY
I first began to have symptoms of what was later diagnosed as Miyoshi myopathy (a form of muscular dystrophy which affects, initially, the lower extremities) in 1981. Before this I had been extremely active and athletic, including competitive figure skating, cross-country running, and skiing. I noticed thatmy lower legs were extremely sore after going running, and that I was unable to stand on my toes on my left leg. I first consulted neurologists about the symptoms just before starting college. During my first few months of college I went through numerous tests. The doctors I consulted with were unsure whether I had polymyositis or a type of muscular dystrophy. In any event, they were unable to pinpoint which type of muscular dystrophy I might have, or to make any recommendations for activity level.
In spite of this, I did manage to accomplish some useful things. I went to college, then grad school, all of which may have kept me so busy studying that I didn’t have all that much time to worry about what the future held. Although I can think of several instances when I clearly did not work up to my abilities, simply because of my frame of mind. But, finally, I ended up with a Ph.D. in Applied Physics, and then went off to join the real world (if being a scientist can be called the real world).
While I was in grad school, I finally got in contact with a neurologist who was able to give a credible diagnosis and pass along some of the medical literature describing what was known at the time. Then, in the early 1990’s, a research group in Boston began looking for the gene which causes Miyoshi. I gave a blood sample to that study, although I’m not sure I was very much help, because there aren’t any other affected members of my family, which is what’s needed when looking for genes. Also, during this time, people began to be aware of, and gather clinical information on Miyoshi myopathy. It turns out that the prognosis is not nearly as bad as I had feared.
In 1998, the gene which, when mutated, causes Miyoshi, was identified by the group in Boston. Even more astounding, the same gene (and in fact, the same type of mutation in the same gene) was discovered to cause one form of Limb-Girdle Muscular Dystrophy (type 2B). Nobody had ever suspected that the two conditions were related, since they were put into two different categories of muscular dystrophy on the basis of the initial muscles involved. From my perspective this was all very good news, because now I had a relatively common condition rather than an extremely rare one, so there was much more incentive for researchers to study it.
In 2000, an antibody was developed that could test for dysferlin in a muscle biopsy. The neurologist who had diagnosed me had the foresight to take a muscle biopsy years earlier and keep it frozen until it could be tested. I arranged for it to be sent for testing to a lab in Washington DC; the testing confirmed the diagnosis. Also that year, I began looking at the medical literature on Miyoshi and dysferlin, and realized that, unbeknownst to me, there had been several groups around the world working on the disease. This gave me a lot of optimism, and I decided to put together a website to inform other patients about the disease (because, in my experience, most neurologists were not very well informed at that time. A few months after the website went online, Ajit Jain wrote to me, saying his son had just been diagnosed with Miyoshi. This began my involvement with the Jain family and the Jain Foundation (which was formed a few years later). Even though my background is not in biology, this disease and the research on it has given me incentive to devote part of my time to this field. I believe that the research projects and patient relations that the Jain Foundation supports are extremely important for three reasons:
- I want patients being diagnosed today not to have to go through the amount of confusion and frustration that I did.
- Medical advances won’t be made without a lot of research and translational work. I want to contribute to this effort as best I can.
- Research tends to advance most quickly when there is a community of people working toward a common goal. The annual conferences on dysferlin (something that I had only dreamed about), hav helped to create this community.
I express my appreciationto the research groups who have made the discoveries on dysferlin; to the patients who have participated in the clinical studies– none of the advances would have been possible without their help. Finally, to all who contributed time and money so that this research could happen.