Tuesday, July 21, 2009

July 22 is Fragile X Awareness Day



In honor of Fragile X Awareness Day, please ask your U.S. representative to co-sponsor House Resolution 611: Supporting the Goals and Ideals of Fragile X Awareness Day. This bill will strongly urge health professionals to learn about, test, for, and support individuals and families affected by Fragile X Syndrome. Readers of this blog probably don't need a reminder about how important this is. But for anyone happening upon our blog for the first time today, some quick notes. Fragile X Syndrome is the most common genetic cause of intellectual disability. About 1 in 3600 males and 1 in 4000 females are affected. So it is rare, but not that rare. Our son has a classic textbook case, yet we were told my numerous specialists that he was "fine/would grow out of it" and "showed no evidence of having a syndrome". After a stressful year involving expensive doctor visits, an MRI, a chromosomal analysis, metabolic function tests, and other evaluations, my son took a relatively simple $300 blood test that showed he had Fragile X Syndrome. Given how well his symptoms match the disorder, it is sad and surprising that it took so long to get a diagnosis. House Resolution 611 is a step in the right direction. Awareness is very much needed. Click here to take action. It takes just a minute.

4 comments:

Bjetsey said...

interesting video. I love how very real the science lab and the professor are! never would have guessed that fish are a good model for humans!

Sarah said...

I was surprised by that too! The science involved with all the FX research is very cool and interesting.

Beth LaBossiere said...

This is Beth, the maker of this video, and I want to thank you for posting it to your website! The more awareness we can spread, the better. I'm glad you enjoyed the video. Aren't Joshua and Jordan wonderful kids?

Sarah said...

Beth, how fun to get a visit from the filmmaker! Joshua and Jordan are wonderful kids! Thanks for stopping by.