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.

Thursday, September 5, 2013

Quest for a Cure 2013!!!

We're walking again to CURE Rett Syndrome!!!  Come on out and join Annie's A-Team on Sunday, Oct. 6 , 10am at the beautiful Inglenook Park in Southfield!  For those who haven't joined us in past years here's what you can expect - a TON of food, a short 1K walk, an amazing raffle with loads of prizes, a silent auction, a Grand Prize (previous years it's been an iPad, this year's prize is TBA), a clown for the kids, balloon animals, face painting, pumpkin decorating, and did we mention a TON of food???  It's a great morning and don't worry it won't take up your entire Sunday,  just a couple hours to show your support for our little hero Annie!!!  If you can't make it, you can always support Annie's A-Team by donating online HERE and read below for more information about the research that has the potential to CURE Rett Syndrome at the genetic level, this is what we will be funding this year.  

All donations will go to Ben Philpot, a researcher at the University of North Carolina at Chapel Hill, and his project to activate the silent MECP2 gene in Rett Syndrome.  All girls with Rett Syndrome have 2 copies of MECP2 on each cell, a healthy copy and a Rett Syndrome copy.  Dr. Philpot is screening drugs to “turn on” the healthy MECP2 gene, curing Rett Syndrome at the genetic level.  $156,000 is needed by December 2013 to fund this project.

Why Ben Philpot?  Ben Philpot’s lab will screen for compounds that can reactivate the silent (healthy) MECP2 gene already in a girl with Rett.  MECP2 has proved to be very complex, with this approach we don’t need to understand what MECP2 is responsible for we just need to turn it on Ben has been successful in finding a drug to activate the silent copy of the gene responsible for Angelman’s Syndrome.  Because he is familiar with this type of research and has been successful in the past we are very hopeful that his, now streamlined, approach will move faster, be more efficient and has promise of being successful in curing Annie, all girls currently suffering with Rett and the 16 girls that continue to get diagnosed every day. To watch a video about this research please visit:

Rett Syndrome:  Is a spontaneous, genetic neurological disorder that affects girls almost exclusively.  Annie was born healthy, grew and developed normally until about 12 months old when she suddenly regressed, loosing all hand function, ability to ambulate and every word she spoke. Girls with Rett remain cognitively age appropriate, however become trapped in bodies that are no longer able to function properly, they require 24 hour care for the rest of their lives.  Rett Syndrome has the symptoms of autism, cerebral palsy, Parkinson’s, epilepsy, and anxiety disorder all in 1 little girl. 
Hope:  Since it’s discovery in the early 1980’s the research in Rett has brought hope.  In 1999 Dr. Zohgbi discovered the gene that causes Rett, MECP2.  The fact that we have a gene, a single gene makes research into a cure easier.  In 2007 Dr. Bird’s lab reversed Rett Syndrome in a mouse model.  This proof of principle experiment shows that if/when MECP2 is restored symptoms of Rett Syndrome reverse, essentially curing the disease. 
Thank you for making a difference in the lives of these precious girls!

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