My dear friend, Laura Allen, has graciously dedicated this blog post to Rett Syndrome and how you can vote every day in the month of July to help Rett get a $250,000 grant from Pepsi.
Cyndi Perron writes: Our family was blessed 33 years ago with a beautiful little girl named Missy Chapman. Her parents, Becki and Scott, had so much to look forward to with their little girl, but their road was going to take a different journey than what they thought. It began when Missy was about 18 months old. My sister, Becki, started to notice a change in Missy and this started a search that spanned years and many, many doctor’s office visits, scores of tests, and hearing some very hard and insensitive things from “well-meaning” doctors. We all knew the answer was out there and finally one day the answer came.
Becki writes: Thanks Cyndi. The details are too many to share here but essentially we were fortunate that Missy was under the care of a wonderful man and pediatric neurologist, Dr. James Coldwell, for her seizures. (Which are pretty common for a person with RS.) He and I both came to hear of Rett Syndrome at about the same time. He through his medical contacts and I through a newspaper article written by a Mom whose daughter was diagnosed with Rett Syndrome. Missy was 8 years old at that time.
Not much information was available but what we did know fit Missy. She had seemingly normal early development but then around 18 months of age she showed regression. Her speech disappeared, her ability to move about changed as she developed a wide-based stance and gait. She began having seizures. She also developed an unending hand-wringing motion and breath-holding episodes that she was only freed from during sleep. Literally it felt like we were watching our daughter slipping away from us. So, the excitement we felt having a name to what was happening with Missy would seem crazy but to me it meant we could then start focusing on treatment.
It’s been many years for Missy now but the Rett community and the researchers and doctors that are all involved in figuring this thing out are amazingly dedicated and we are so fortunate to have them all working so tirelessly for our children. I have never given up hope because I know how hard they work. I have never given up hope because I believe in Missy.
Cyndi here: To be the parents of a daughter with Rett is not an easy road. It is a 24/7 job and you never get a day off, but my sister and her husband, have mastered the art. Missy is an exceptionally happy, healthy and loving person who has blessed our family with her endless smile, laughter, love for food and the wisest eyes you have ever seen. As her aunt, I know she understands and hears everything and gets it. Missy is our special angel and we love her dearly.
In the last few years research has made some amazing leaps for Rett Syndrome. In 1999, the MECP2 gene was identified as the gene that causes RS. This was a huge discovery and now there is genetic testing for those who wish to know. They have done some animal studies that show RS may be reversed someday. None of this can continue without money to support the research. Please take a few minutes each day this month and vote. You can vote each day and see where we are. Rett Syndrome is currently in fourth place and we need to be in first! We are so close so please vote and spread the word; there are a lot of girls out there like Missy. Forty years ago no one really knew what Rett Syndrome was and now there is hope of actually reversing it! You can help that happen—please vote!
Leave A Comment