30 Days of MD: A Scientist Tells His MD Story
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Day 6 of #30daysofMD Introducing Brad Williams: A Scientist Tells His MD Story I first started to have muscle weakness at the age of 18. The first thing I noticed is that it was difficult to stand on my toes initially in just one leg, and eventually the other. I had always been quite athletic in childhood, having been a competitive figure skater, as well as doing a lot of skiing, soccer, and cross country running. I’d heard of muscular dystrophy, mostly from the MDA telethons that used to happen on Labor Day weekend. But I didn’t realize that there are so many different types, or that I would turn out to have it! It tool me many years to learn what type of muscular dystrophy I had—Limb Girdle Muscular Dystrophy Type 2B (or R2), caused by mutations in the dysferlin gene. I had to wait about 20 years for genetic sequencing to be developed, genes involved in different types of MD to be discovered, and ways of testing patients to become available. It’s now thought that there are between 2000-3000 people in the US with the same type of muscular dystrophy as me. In most cases (as with me) there’s no family history of muscle disease, as my parents were both carriers but had no way of knowing until I started developing weakness. My weakness has gradually progressed over the almost 40 years since I first had symptoms, and I’ve had to use a wheelchair since 2002. But I’ve been able to have a productive career as a scientist, and for the last several years I’ve worked for a foundation focused on my particular type of MD. This Labor Day weekend marks the first ever National Limb Girdle Muscular Dystrophy conference. We aren’t quite to cures yet, but a lot has happened since I started to have symptoms many years ago.