LogFAQs > #936766141

R1masher posted...

Whats this condition alteres is saying you have?

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 31 and a Communication Major. I spend my days writing video game walkthroughs.

When I was born, nobody knew what was wrong with me. Eventually, a geneticist diagnosed me. She said I would be dead soon. My parents found nineteen other families with MTM1 babies. They sent their information to every children's hospital that had a genetics department. The geneticist also received a copy. Dumbfounded, the geneticist 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.


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I need a new signature.