Friday, January 22, 2010

Hard to keep a head band on.


There are a few interesting tidbits going on in the Rett Syndrome world, mainly some media stuff and awareness raising...

My friend Ingrid, who runs Girl Power 2 Cure, was recently interviewed by Parents TV for a story about her daughter Sarah who has Rett Syndrome. She did an amazing job and I loved seeing all those baby pictures of Sarah and the video of Sarah walking! We saw Sarah in 2008 and she was relying on a stander/walker and not taking independent steps and since then, she's learned how to walk, pretty fantastic!

There is also a new movie out, which opens tonight, called Extraordinary Measures - which is about a father of two critically ill kiddos with Pompe disease and how he takes a drug from its infancy and gets enough funding to create a biotech business and actually get it through clinical trials and finally being able to find a treatment for his kids. Because critically ill kids often don't make such great movie material, I was pleasantly surprised when the NY Times gave it a thumbs up.

It's based on a book called The Cure, which I did spend a few days last week reading through because I was interested in kind of learning how one develops a treatment for a genetic disease. I was a little disheartened to learn via the book that when the kiddos in the movie were diagnosed, there was already in the scientific pipeline at least a few approaches to treating Pompe in animals that were promising. Even with a lot of the science in place, it still took the father (who is a savvy businessman and decidedly not a scientist) of the kids over 5 years to get his kids treated with the medicine. There were issues with funding, scaling up, passing FDA approval, etc, etc. You know, I'm a scientist at heart, so when I think of finding a cure for Rett Syndrome, I think - well OK as long as it's done in a lab and it works, it'll be a year before no one will have Rett Syndrome, but perhaps that is not true.

Anyhow, Extrodinary Measures is running a contest: here. The video that gets the most votes gets $10,000. If you could vote for the Rett Syndrome video, that would be great! You can vote everyday until the 29th. The video is a little hard to find, just go to the bottom of the quilt and search for Rett and it'll pop up.


sherah said...

Hey Doris which one is the Rett video. It wasn't immediately evident and I couldn't watch all of them.

Doris said...

You gotta go to the "search" option at the bottom of the quilt. Type in Rett and one video will pop up. It's a video with a woman holding a baby in a bed with the hubby smiling broadly.

Karen said...


Donald said...

Sad about the headband... oh well. Thought it would be cool!