Boubacar’s Story

Like many 9-year-old boys, Boubacar loves robots and playing games on his iPad. Unlike most other boys, Boubacar has Congenital Myasthenic Syndrome, a rare genetic muscle disease that steals his ability to walk.

It doesn’t seem that long ago things were different for Boubacar. He was living in West Africa and didn’t know he had a muscle disease. Now, he lives in the Columbus, Ohio area, and knows why he used to fall down so much.

Only two weeks after arriving in the United States, Boubacar was seen in one of the Nationwide Children’s Hospital Primary Care Centers. As a result, he was referred to Nationwide Children’s Neurosciences Center because he was experiencing pain and weakness.

Through the Neuromuscular Disorders Clinic, Boubacar underwent physical therapy and a series of tests including MRIs, EMG, muscle biopsy, and genetic testing. It was the last test that revealed that Boubacar has Congenital Myasthenic Syndrome (CMS). This rare genetic disease affects 25 to 125 people per million. The diagnosis explained why Boubacar had an altered gait, couldn’t walk more than 60 feet, fell down a lot, experienced muscle pain and had exertion-related respiratory symptoms.

There is no cure for CMS, but there is a treatment. Boubacar takes two medications. One alleviates muscle pain and the other helps to combat the fatigue and weakness that he experiences with activity.

Now, like most other boys, Boubacar can walk. But unlike most other boys, the reason he has a big smile on his face while doing so is because he can walk much further than before his treatments started and because he doesn’t fall down as often as he used to. He still needs his wheelchair after walking a short distance and may require it more frequently in the future. But Boubacar has plans for the future. Plans for Nationwide Children’s Hospital and for himself. As far as Nationwide Children’s, Boubacar says, “I hope they can cure all diseases.” As for him, Boubacar says, “When I grow up, I’ll be a nurse.”

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Like many 9-year-old boys, Boubacar loves robots and playing games on his iPad. Unlike most other boys, Boubacar has Congenital Myasthenic Syndrome, a rare genetic muscle disease that steals his ability to walk.

It doesn’t seem that long ago things were different for Boubacar. He was living in West Africa and didn’t know he had a muscle disease. Now, he lives in the Columbus, Ohio area, and knows why he used to fall down so much.

Only two weeks after arriving in the United States, Boubacar was seen in one of the Nationwide Children’s Hospital Primary Care Centers. As a result, he was referred to Nationwide Children’s Neurosciences Center because he was experiencing pain and weakness.

Through the Neuromuscular Disorders Clinic, Boubacar underwent physical therapy and a series of tests including MRIs, EMG, muscle biopsy, and genetic testing. It was the last test that revealed that Boubacar has Congenital Myasthenic Syndrome (CMS). This rare genetic disease affects 25 to 125 people per million. The diagnosis explained why Boubacar had an altered gait, couldn’t walk more than 60 feet, fell down a lot, experienced muscle pain and had exertion-related respiratory symptoms.

There is no cure for CMS, but there is a treatment. Boubacar takes two medications. One alleviates muscle pain and the other helps to combat the fatigue and weakness that he experiences with activity.

Now, like most other boys, Boubacar can walk. But unlike most other boys, the reason he has a big smile on his face while doing so is because he can walk much further than before his treatments started and because he doesn’t fall down as often as he used to. He still needs his wheelchair after walking a short distance and may require it more frequently in the future. But Boubacar has plans for the future. Plans for Nationwide Children’s Hospital and for himself. As far as Nationwide Children’s, Boubacar says, “I hope they can cure all diseases.” As for him, Boubacar says, “When I grow up, I’ll be a nurse.”

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