LogFAQs > #914131140

As I was falling asleep for my nap, I was thinking back on the conversation I briefly had with @_Lyonidias about my medical history.

I was born with a rare form of Muscular Dystrophy called "Myotubular Myopathy." This disorder, MTM1, severely weakens the voluntary muscles and nothing else. I eat via a tube. I use a wheelchair to move. I type to communicate. I breathe via a machine. I'm 29 and a Communication Major. I spend my days writing video game walkthroughs.

There is a gene therapy being tested on human children with MTM1. The drug fixes the protein imbalance and restores muscle function. It'll be years before I get it.

When I was born, none knew what was wrong with me. Eventually, geneticist Dr. Herman diagnosed me. She said I would be dead soon. My parents found seventeen other families with MTM1 babies. They sent their information to every children's hospital that had a genetics department. Dr. Herman also received a copy. Dumbfounded, Dr. Herman sent a grant request to the Muscular Dystrophy Association. She got the grant, then, after much research, identified the offending genetic marker in Mom's family. That started everything into motion towards the gene therapy.

Most MTM1 patients are either dead or kept out of school.
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I'd rather look at virtual horse balls than a post from UR. - __aCEr__