International Ataxia Awareness Day

I know this is supposed to be a craft blog, but this is something near and dear to my heart. Today is International Ataxia Awareness Day. If you don't already know it, my niece, Allison, who is 16, has a rare genetic disease called Friedreich's Ataxia (FA). It is a degenerative neuro-muscular disease in which the person afflicted with the disease loses their ability to balance and coordinate movement. It also usually has an effect on their heart and often causes curvature of the spine. Usually this is diagnosed in children between the ages of 5 and 15. Most are wheelchair bound by the time they finish high school. Often these kids live only about 20-30 years after diagnosis. Treatment is very limited, and there is no cure.

Let me tell you a little of Allison's story. In August of 2000 my sister took both of her girls in to the doctor for their annual check up before the beginning of the school year. A very common, routine trip, or so they thought it would be. While listening to Allison's heart, she noticed that it didn't sound quite normal. She said it sounded like a murmur, but in skinny kids like Alli, sometimes it was hard to tell. They ordered an EKG. When that came back, the results were not normal. Other tests were then ordered. The results were that she had an enlarged left ventricle and a thickening of the heart wall. What on earth could cause this in a nine year old? The search was on to find an answer. The answer was found in her genetic code. She had Friedreich's Ataxia. Life turned on a dime for my sister, her kids and the rest of our family as well. Personally, I cried for a week straight. I can't even begin to describe how helpless I felt. I read things on line about the disease that filled me with horror. The words that stuck out most in my mind were "no treatment" and "no cure". I prayed and prayed for God to rearrange her genetic code and take this awful thing from her, I prayed for God to miraculously stop this disease where it was and that she wouldn't get worse. But God knows what He is doing and has used this in our lives for good. People have been drawn closer to God through our experience with this disease.

Finally, after beginning to come to terms with the fact that my niece was going to have this illness no matter what, I came to the conclusion that I could either be "reactive", meaning that I could just wallow in the fear, pain and sorrow I felt, or I could become "proactive" and do what I could to make a difference. The day I came to that realization I said to myself, "ok, I'm not a doctor, I'm not a scientist, I don't understand all of the medical and scientific mumbo jumbo, but there is something that I can do. I can talk about it to other people, and I can try to help raise money for research so that the doctors and researchers who DO understand this disease can try to find a treatment and maybe someday even a cure." You see, the thing about rare diseases is that few people know about them, therefore funding for research is limited. It might take a lot longer to find a treatment or cure simply because the funds aren't there and the researcher's hands are tied. From the day I made that realization, I have made it one of my goals in life to try to raise awareness of this disease and point people to where they can donate to help research.

Allison is now 16 years old. She is a very sweet-natured, tenderhearted, shy girl who loves babies and animals, dogs in particular. In July of 2006 she had surgery to help straighten her curved spine. This past spring she got her first motorized wheelchair. Typically, those of us who have the use of our legs would think how limiting it would be to be in a wheelchair. Let me tell you how Alli sees it. Allison found a new sense of freedom in it. She no longer had to have help to get across the room. She didn't need someone to push her in her chair. She could zip down the sidewalk much faster than she has been able to in years. Funny how perspective changes. Her heart is significantly weakened by the FA, and she is easily tired, but other than that she is doing fairly well.

In the 7 years since Alli was diagnosed there have been great advancements in FA research. There are some really exciting things happening that may eventually lead to a FDA recognized treatment with a certain drug called Idebenone. Allison has been taking this experimental drug almost since she was diagnosed. It is supposed to help slow the progression of the disease and help her heart to not sustain as much damage. This drug currently costs about $300.00 a month. If this approval goes through, it will be available as a prescription and would qualify for insurance coverage. This would significantly reduce costs for the families of kids with FA. Some families have more than one child with FA and you can imagine the impact of this on those families. There have also been discoveries made in possible gene therapies and tricking the body into thinking that the genes are normal by bypassing the incorrect portion of genetic code. This is really exciting as it has the potential to literally stop this disease in its tracks and give these kids a chance at a much more normal life. The next best thing to a cure.

I had planned to have a quilt finished by today to raffle off for FA research. I didn't manage to get it finished yet, but look for that coming in the future. I have decided to place a button in the sidebar of my blog. This will link to FARA (Friedreich's Ataxia Research Alliance). FARA is dedicated to helping families with FA and making grants specifically for FA research. Stop by and check them out sometime and if you are so inclined, you may make donations there. There is a wonderful video there that I would encourage you to watch.

I appreciate all of you who take the time to read my FA posts. It means more to me than you can imagine.

This picture of Allison was taken the day after her 16th birthday back in May of this year. Her dog, Sadie, is her constant buddy.

1 comment:

Holly said...

Linda, thank you for your dedication to raising awareness of FA. I worked in a pediatric hospital for years and I know just what you mean about the direct relationship between awareness and research; lower awareness = fewer research dollars. You are making a tremendous difference. My prayers are with you and your family, especially Allison. God Bless - Holly