#2318
I pray to God you know something about this! My good friend just found out yesterday that her 4 year old daughter may have a genetic disease called Friedreich Ataxia. I believe it is found on the 46 chromosome. It's a degenerative muscular disease that is going to basically kill her. I think the lifespan is in the 20's and 30's. They haven't officially gotten the test results back yet but she has all of the symptoms; poor speech, vision problems, no reflexes, etc. The doctors were quite amazed. You should see her, it is so sad. She'll be standing there and just fall over. She runs into walls and is always hurting herself. They have known for a while now that something was wrong with her but doctors kept telling them that she's just clumsy and will grow out of it. My poor friend has been searching on the internet for info and it's all gloom and doom; no real treatment and no known cure. I know there must be something! I haven't really searched yet myself but I thought I would post this now in case someone can help.