Courtney Bonzey via Crowdrise
January 17, 2012
BENEFITING: RETT SYNDROME ASSN OF MASSACHUSETTS
ORGANIZER: RETT SYNDROME ASSN OF MASSACHUSETTS
EVENT: 2012 Boston Marathon
EVENT DATE: Apr 16, 2012
Running the Boston Marathon is something that I have wanted to do for a few years, but not until recently have I been able to find the motivation to get me through the grueling training process or a cause that has impacted my life in such a direct and unexpected way. This past September my 2 1/2 year old niece, Elizabeth, was diagnosed with Rett Syndrome and it is such a blessing to be able to run in honor of her.
Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. The disability can range from mild to severe. Typically children develop normally, followed by a period of regression and then they stabilize.
Elizabeth only fits some of the criteria for the diagnosis, so it is uncertain what the extent of her disability will be. Elizabeth has already defied so many odds of this devastating diagnosis and we continuously pray that she will maintain her hand functions, keep her ability to walk, and continue to make developmental progress. To date, Elizabeth has not had any regression!
Please support me in raising money to help researchers take one step closer to finding a cure for Rett Syndrome. I understand that it's not always easy to find extra money laying around but I appreciate anything you can give that will help me reach my goal!
PS- Please read on for more specific information about the clinical trial that may one day reverse Rett Syndrome!
RETT SYNDROME ASSOCIATION OF MASSACHUSETTS INC wrote -
Team Rett FundRacers will be raising money for the very first clinical trial of the IGF1 growth hormone currently underway at Children's Hospital Boston 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.
Although Rett syndrome leaves all girls and women dependent on others for all of their basic needs, tremendous advances in research have been made since the MECP2 mutation was discovered in 1999.
This IGF1 groundbreaking clinical trial, now being conducted by Dr. Omar Khwaja and his team at Children's Hospital Boston, is the first disease-modifying therapy to be tested on girls with Rett. Greeted by an outpouring of enthusiasm from the Rett syndrome community, this trial is giving families enormous hope for a brighter future.
Please support Team Rett in its efforts to fund research that may lead to a cure for Rett syndrome!