On May 4, 2009, after nearly a year of chasing a diagnosis, we were told that our 6 year old daughter had a rare and life-threatening neuromuscular disease. We were also told that there was no treatment, no cure, no pill to make things all better. What we thought was a little bit of a balance and coordination issue for Hannah had just turned into something horribly worse and there was nothing we could do to fix it.
Friedreich’s Ataxia (FA) is a rare, genetic, neurodenegerative, mulit-system, life-altering disorder. Onset of symptoms is usually between the ages of 5 and 15. Earlier the onset typically means a more aggressive disease path.
- muscle weakness and loss of coordination in the arms and legs requiring wheelchair usage
- vision & hearing impairment
- slurred speech
- aggressive scoliosis that often requires spinal fusion
- life-threatening heart disease called hypertrophic cardiomyopathy
Within a few days of this devastating diagnosis, we found HOPE. We found a wonderful organization called Friedreich’s Ataxia Research Alliance (FARA). Through them, we found that there is something we can do. We can help fund clinical trials. We can fight to CURE FA!
The Friedreich’s Ataxia Research Alliance (FARA) was established in 1998 by a group of patient families and leading FA scientists. FARA is supporting research that will improve the quality and length of life for those diagnosed with Friedreich’s Ataxia and will lead to treatments that eliminate its symptoms. Thanks to generous donors and the tireless efforts of Friedreich’s Ataxia families, FARA has raised and devoted more than $16 million to supporting FA research around the world since its establishment. It is estimated that we need to raise $4 million this year to fund these clinical trials. Please see www.curefa.org for more information on FARA.
The disease is progressing in Hannah much like we had anticipated. This last year, particularly since Christmas, Hannah has begun to struggle more and more with her balance and fatigue. By the end of school, she was using a rolling office chair to make the long walk to and from the bus. We are expecting her first wheelchair to be delivered any day now.
Her scoliosis has also progressed to the point that it’s visably noticeable. It’s bordering at the point where we must consider a brace or not. That decision may have to be made in the next 6-9 months.
Much to our relief, Hannah’s heart is remaining pretty stable with some mild left ventricle hypertrophy. In the Fall, we changed up her medications a bit, giving it to her three times a day. Was that what helped? Don’t know, but we’ll take it!
Sept 2013 Update:
As expected, the disease is continuing to progress. Hannah now uses her wheelchair fulltime at school and a walker at home. The scoliosis continued to progress and she’s been in a back brace at night for nearly a year now. Thankfully, that seems to be slowing the changes down a bit. Our goal is to get her past her growing years before having to do spinal fusion. We’re also pleased to report that her heart is remaining stable at this point too!
Finally, we would like to relay our most exciting news to date. She is enrolled in a clinical trial that will begin in early October. She is only 1 of 12 children enrolled. This trial is solely funded by FARA! More information about the trial can be found here. http://www.curefa.org/_pdf/IFNgammaStudy082113.pdf
Thank you all that have supported us over the years and have joined our fight to CURE FA! We’re getting there!
Hannah enters middle school this year! We cannot believe how fast time is flying. Despite the relentless progression of the disease, she keeps her chin up and continues to smile. Hannah’s mobility is now to the point of not being able to walk unassisted. She uses an electric scooter at school and a wheelchair at home. Thankfully, the continued use of her back brace at night has halted the scoliosis at about 25 degrees for both curves. She is due for another echocardiogram of her heart, but at last check-up it was holding steady, too.
The clinical trial that I mentioned in the update last year went very well. We hope to see the final results from all participates in the next month or so.