BENEFITING: RETT SYNDROME ASSN OF MASSACHUSETTS
ORGANIZER: RETT SYNDROME ASSN OF MASSACHUSETTS
EVENT: 2017 Boston Marathon
EVENT DATE: Apr 17, 2017
On April 17th, I will be running the Boston Marathon in partnership with the Rett Syndrome Association of Massachusetts (RSAM). I am running in honor of all of the girls and women with Rett Syndrome that I have met since I began working with the Rett Research Program at Boston Children's Hospital this June.
Rett Syndrome is a neurological disorder caused by a mutation of the MECP2 gene on the X-chromosome and affects 1 in every 10,000 females. Although rare, males also can be diagnosed with Rett Syndrome. Children with Rett seem to develop normally until they reach 6 to 18 months of age, but then they undergo a period of regression and lose many cognitive and motor skills they had previously gained. Almost all children lose their hand function and their ability to talk. Rett Syndrome can also hinder normal respiratory, digestive, and mood function, limit the ability to walk, and cause seizures. Currently, there is no cure.
I first learned about Rett Syndrome when I interviewed for a position in the Rett Research Program at Boston Children's Hospital this past spring. Currently, I work with the research team as a study coordinator, helping to run both observational studies to better understand Rett Syndrome and clinical trials in search of treatments. To be honest, I felt nervous when I first ran study visits because I wasn’t sure how to interact with a little girl who couldn't talk back or even make eye contact. However, I quickly learned that these girls have so many unique ways to communicate and express their spunky or sweet personalities. Furthermore, I was struck by the love, selflessness, and hope demonstrated by their parents and families. So many of the families drive, or even fly, many miles to participate in clinical trials in hopes that a drug could take us all one step closer to finding a cure for Rett Syndrome.
While I am running for all of the amazing girls and women that I have met through my time at BCH, my marathon is dedicated to a very special little girl named Ava. Ava lives with her parents and big sister in Carlisle Massachusetts. She is a beautiful spunky Kindergartner and thrives within her community. Ava uses an eye-gaze speech-generating device to communicate with her teachers, peers and family and although Ava is able to walk, she does need close contact and constant care. That doesn’t stop her from being a typical 6-year-old! Ava loves to play dolls with her sister by directing her sister’s play. She also loves the outdoors: riding her adaptive bike, running on the playground or chasing bubbles. Ava’s absolute favorite thing to do, however, is watch sports with Dada. She is a miniature Gronk fan! She laughs and cheers her Pats, college basketball, the Olympics, you name it. Ava is determined. She “wants to do what the others are doing” and inserts herself in everything. ‘FOMO’ (fear of missing out) was coined for her.
Ava’s determination to do everything her peers are doing is paralleled by the determination of doctors, researchers, teachers, and families all working towards helping girls living with Rett Syndrome. The donations raised by the RSAM marathon team will fund future biomedical research that will hopefully one day find a cure or better treatment opportunities for this disorder. Personally, I am committed to raising $8,500 by race day to support this research. Please consider helping me to reach this goal by making a donation here. If you prefer, checks can be made payable to the Rett Syndrome Association of Massachusetts (RSAM) and mailed to me at: 677 Washington St Apt. 2 Brookline, MA 02446.
Please remember that some companies offer donation matching and all donations are tax deductible. Any donation size is truly appreciated! Thank you so much for your support!
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.
Please support Team Rett in its efforts to fund research that may lead to a cure for Rett syndrome! For more information about RSAM, please visit our website at www.rettsyndromemass.org