I was looking online last night at stuff for the MDA Telethon which is on this weekend. The disease my niece has is one of the diseases targeted by MDA. I found an article from last August (2006) that knocked my socks off! I realize that the information is a year old, but this was the first I have seen of it.
First let me explain as best I can how the disease seems to work. If you think of DNA as genetic code all stretched out in a big long line (it is typically represented in letters, T G A etc.), in Friedreich's Ataxia patients there is a section of that code that gets repeated over and over thousands of times. Way too many times. If you were to read the code left to right, then to the right of where the repeats of that section of code are, there is more coding. This is the coding to tell the cell to produce Fratxin which is a protein. Fratxin's role in the body is to transport iron out of the mitochondria of cells. If it is not present, then iron builds up in the cells and causes the damage that you see present in Friedreich's Ataxia. Nerve cell damage, heart cell damage and some skeletal anomilies as well. So what happens with FA is, the body starts at the left and is going along reading the code and all of a sudden it hits the section where that piece of code is repeated too many times and it essentially short circuits, so it never gets to the part of the code that tells it to make Frataxin.
Now, the exciting part is this... researchers believe that they have found a compound that will change this for FA patients. The compound is called HDAC inhibitor 4b. What this compound is supposed to do is essentially block the body from reading all of those repeats of code and send it on to read the rest of the code to where it can read the part that tells it to make Frataxin. Preliminary tests have been done with cells taken from 12 FA patients. In all 12 the cells began to produce Frataxin, the article said at least to the point of those who are only carriers of the disease. Most carriers do not exhibit symptoms of the disease and lead normal healthy lives. Essentially the thought is if they can find a way to introduce this compound into FA patients, the disease could essentially be stopped in its tracks, or at the very least, very significantly reduced. There is much more testing that needs to be done to be sure that it is safe and doesn't cause cancer or isn't toxic in some other manner, and then clinical trials can begin, and then maybe, just maybe, there will be an answer when a parent of a newly diagnosed child says "What do we do now?". Maybe there will even be hope during Allison's lifetime which I never dared dream. When she was diagnosed 7 years ago, it just seemed like there wasn't much hope to offer us. I hope and pray that the testing and trials go well and that this treatment will keep other kids and families from living through the very frightening things that this disease can do.
So, all of the nickles and dimes for research, they really do add up and they really do make a difference. From one family member of an MDA/FA kid to those of you who have ever given even one penny to MDA throughout the years, THANK YOU. From the bottom of my heart, THANK YOU!!!