Linda's FA

Many of you know of Linda's disease. If you don't, you may have noticed something about her walk; and her speech may seem a little slurred. Has she been drinking? If it were only that simple... she has Friedreich's Ataxia. It's a genetic disorder that's gradually taking away her mobility. The nerves that connect her muscles with her brain are deteriorating. And since it's a progressive deterioration, her condition will only get worse. Most people with Friedreich's Ataxia don't even know it until they first notice the symptoms, and then ten or fifteen years later they are confined to a wheelchair.

The disease doesn't get much attention; only around 6,000 people have it in the United States. That might sound like a lot, but compare that with over 1 million with Parkinson's; 300,000 with MS; 30,000 with ALS (Lou Gehrig's disease). Not to mention cancer and AIDS. Maybe this common definition will help:

Orphan disease: A disease which has not been "adopted" by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. According to US criteria, an orphan disease is one that affects fewer than 200,000 people, or one that has been ignored because it is far more prevalent in developing countries than in the developed world.

This disease would not seem overly complicated. There is a protein in our bodies called frataxin that regulates the buildup of iron inside mitochondria. In someone with Friedreich's Ataxia, the frataxin protein is defective, and as a result iron builds up in the mitochondria, which causes damage. That's about it. If we could just fix the frataxin, or keep the iron from building up, maybe we could solve the problem. Medicine is making amazing progress at this time in our history. In fact it was less than ten years ago that the gene responsible for this disease was isolated.