BENEFITING: RETT SYNDROME ASSN OF MASSACHUSETTS
ORGANIZER: RETT SYNDROME ASSN OF MASSACHUSETTS
EVENT: 2013 Boston Marathon
RETT SYNDROME ASSN OF MASSACHUSETTS wrote -
Team Rett FundRacers will be raising money for research in hopes that Rett syndrome can be reversed!
Seen almost exclusively in girls, Rett syndrome is a unique developmental disorder caused by mutations on the X chromosome on a gene called MECP2. A rare disease, the incidence of Rett syndrome is about 1 in 10,000 females. The course of Rett syndrome, including the age of onset and severity varies from child to child. As the syndrome progresses, most children lose purposeful use of their hands and the ability to speak. Other symptoms may include loss of motor skills, breathing and cardiac irregularities, seizures, digestive problems, scoliosis, and tremors.
My daughter Samantha came into the world as a beautiful and sweet-natured little girl who seemed to do everything well. From her first smile, Sam has always been able to light up a room and her laughter is frequent and infectious. When Sam was about 6 months old, she was sitting independently and babbling nonstop. By 9 months, even though she was using her fingers to pick up food and feed herself, we noticed that she wasn't 'motivated' to move towards things very often unless she was really interested. As time went on the breakthrough from babbling to talking, which seemed imminent, never happened. As time went on, she lost the ability to roll towards items, lost the ability to pick up food off her tray, lost the ability to play with her toys in even the most rudimentary ways.
Despite all this, Sam remains one of the happiest and patient souls on the planet. She loves her family, loves watching her little sister, and loves going to school where she gets to see her friends. She loves jokes, laughing, bad '80's music videos, and knows that burps are funny. She LOVES books (especially her new chapter books), skiing, driving fast, four wheelin', and bumpy rides. She loves eating big meals, watching anything Kung Fu Panda, and cuddling with her family. Now that she has her eye-gaze computer system, she is learning how to communicate her world to the rest of us. There is so much within her that is just waiting to come out!
Sam needs our help to unlock her from this disease. There have been some amazing advances in the science behind Rett sydrome. There are some promising treatments that are available TODAY, with more on the way. Last year, Sam was one of ten girls who participated in phase I & II of a clinical trial at Boston Children's Hospital. She did well throughout the course of the treatment, and even spoke her first sentence at the end of the trial!!!! By supporting the Boston Rett team, you can contribute directly to our search for a cure. Rett researchers are currently working on generating a new cell line that will allow us to understand the mechanisms behind Rett syndrome to test potential gene therapies on those cells.
Your donations will directly fund research that is designed to discover real therapies to treat Rett syndrome on a cellular and genetic level. Because of the scientific progress and the donors who support this cause so generously, we have real hope that Sam will one day be able to walk and talk and have a richer, fuller life.
I am running so that maybe someday she will be able to.
Please support Team Rett in its efforts to fund research that may lead to a cure for Rett syndrome!