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A Good Beginning: Newborn Screening

Early diagnosis and treatment for neuromuscular diseases that can be treated is crucial, as the disorders are progressive and, in many cases, fatal. Spinal muscular atrophy (SMA), for example, is the leading genetic cause of death in infants. While only a few years ago there were no disease-modifying therapies for SMA, today there are multiple lifesaving treatment options on the market.

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Outside the Lab

Michael Lo Sapio, father of Mikey, 7, and Reid, 5, proudly admits that he’s pushy. Both his boys live with Duchenne muscular dystrophy (DMD), which causes progressive muscle degeneration and weakness beginning in early childhood. People with DMD typically live to their late teens or early 20s.These facts are grim, but being pushy means not accepting the statistics without a fight. For Michael — and many people living with neuromuscular diseases — one way to push back on the numbers is by participating in research.

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The Importance of Genetic Testing

Kelly Berger, 31, of Cincinnati, spent most of her life chasing a diagnosis. When she was 3, her parents noticed that, although she reached physical milestones for her age, she did them in unusual ways. For example, to step up, she pushed off her thighs with her hands, and she preferred crawling on stairs to walking them. Her parents took her to a neurologist and, after bloodwork, an electromyography (EMG), and a muscle biopsy, she received a diagnosis of spinal muscular atrophy (SMA) type 3. That was in the early 1990s, when fewer types of neuromuscular disease were understood.

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Living, Not Suffering

I often hear people say that I suffer from muscular dystrophy.  I don’t like this use of the word “suffer.” I am living my life to the fullest, and don’t feel like I am suffering at all.I may need to ask for help sometimes or adapt to my surroundings, but I can always be myself. Coming to that realization took years of hard work and some tough life lessons.

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2019 Lasting Impression Photo Contest Winners

Congratulations to Brent Gillespie of Benton, Ark., our photo contest winner.This photo, taken in the summer of 2019, captures Brent, 43, trying adaptive wakeboarding for the first time on Lake Ouachita, a popular spot for water sports in Arkansas. The men wakeboarding with him are volunteers from Wake the World, a nonprofit offering water sport experiences for people with disabilities, wounded veterans, and others.

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MDA Resource Center: We’re Here For You

Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA services are only available in the U.S.