BENEFITING: RETT SYNDROME ASSN OF MASSACHUSETTS
ORGANIZER: RETT SYNDROME ASSN OF MASSACHUSETTS
EVENT: 2013 Boston Marathon
In less than 12 weeks I will be running in my second consecutive Boston Marathon. Some people wonder why I’m putting myself through this again: another six months of intense training, getting up at 5:30 every Sunday morning all winter long to hit the pavement for long runs and who knows, maybe it’ll be 95 degrees again. For me, the answer is easy. I run for one reason and that’s Elizabeth. I run because she can’t. I run so that one day she can too. I run for Rett Syndrome. I am running for a cure.
My niece Elizabeth was diagnosed with Rett Syndrome in September 2011. Elizabeth lives with the devastating reality of Rett Syndrome everyday. Rett Syndrome is a neurological disorder on the Autism Spectrum, affecting 1 in 10,000 girls. 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. Children with Rett Syndrome, typically develop normally for the first 6-18 months, then regress and then they stabilize.
At 1 year old, Elizabeth had a few words, Momma. Dadda. Ball. Go. UpUp. No. She signed for “milk”. She signed for “more”. By the time she was 2 ½ years old, Elizabeth lost her ability to verbally communicate. She still babbles, but has no recognizable words. Since this initial regression, she has not had any further loss of skills. She is becoming more communicative through non-verbal means and is learning to use a picture exchange system. She maintains her hand functions as well as her ability to walk. At school, she is making amazing progress. She is learning to follow simple directions. She is learning to sit in circle time unattended. She is transitioning between activities with limited disagreement. With the ever-loving support of her parents, family, friends, therapists and teachers, we pray that Elizabeth will continue to make developmental progress. To learn more about Elizabeth and the Weaver family, visit http://www.rettology.com. Elizabeth continues to defy many of the odds that doctors and researchers said were her fate.
For so many simple things that we take for granted everyday, Elizabeth will forever need help until a cure is found. This is why I need your help. All of the money that is raised goes directly to fund important research to help find a cure for Rett Syndrome. It’s exciting to think that when a cure is found, Elizabeth may be able to live a healthy, independent life. I have committed to a personal goal of raising $5,000 and hope to surpass the $9,752 that I raised last year. Elizabeth and all of the girls affected by Rett Syndrome can not do it alone and I hope that you will be a part of changing the future for these girls.
With much appreciation and gratitude,
PS- Please read on for more specific information about the clinical trial that may one day reverse Rett Syndrome!
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.
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.
Please support Team Rett in its efforts to fund research that may lead to a cure for Rett syndrome!