Scott and Bridget met in 1993 and were married in 2001. In September of 2003 we welcomed our first miracle, James. 16 months later we brought home our second miracle, Annie. And in October of 2006 our family was complete with miracle #3, Gracie. Rett syndrome entered our lives when Annie was diagnosed on May 19, 2006. This is the life of the MacDonald family as we juggle 3 small children and battle Rett Syndrome until Gods perfect time when we are cured.

Monday, November 22, 2010

Thankfulness

It's no surprise that the Holidays can sometimes bring a bit of sadness for some people and I think I speak for all parents of Rett kiddos when I say that this time of year is definitely bitter-sweet. I'm pretty sure that's why God has chosen this time to cheer us right up and give us something to hang on to during this time. That something is RETT research breakthroughs!!!!

The first got us closer to understanding MECP2 (the gene that when skewed causes Rett Syndrome) and it's role in GABA cells: Read the article and see video HERE. Dr Huda Zohgbi's lab was responsible for this finding, watch a short video of her thoughts HERE.

Next, Alysson Muotri of UCSD published an interesting paper in the journal Cell. Click HERE to see how he has made cell lines from skin biopsies of kids with Rett. The cell lines can now be used as a platform to screen for drugs. And an interview with Dr. Muotri can be found HERE

Amazing research that just brings us closer and closer to our cure. A huge thank you to my friends and family who continue to support our efforts to fund the research that will one day cure our Annie. We are in a good place, Annie continues to stay strong, she's still very young, she's learning more and more every day and our hope for a cure continues. I can't wait for the day when we get that phone call - I can just imagine our doctor calling with the news of a treatment and we will start the healing process, the process of getting our sweet Annie back and the joy of watching her go through her milestones for a second time. We wait and hope and pray.

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