BENEFITING: Rett Syndrome Research Trust
EVENT: Team Eva
EVENT DATE: Oct 19, 2014
Shannon Albanese wrote -
TEAM EVA: We are a group of runners and or volunteers that wanted to achieve one goal. For some of us that goal may be to complete 26.2 miles and others that goal is running for the first time and pushing ourselves to do something we never thought we could do. On that beautiful October marathon day, everyone on TEAM EVA, including the volunteers cheering along the way and at the 4 mile water station had one common goal; to raise awareness for Rett Syndrome.
No matter the level we were as runners, we all worked hard to achieve our individual goals. All the training that goes into this goal pales in comparison to the struggles that girls with Rett Syndrome experience every day.
PLEASE HELP US ACHIEVE OUR GOAL: CURE RETT SYNDROME
Rett Syndrome: is the most physically disabling of the autism spectrum disorders, primarily affecting girls, and usually strikes by 18 months of age. It is caused by mutations on the X chromosome on a gene. As the cascade of Rett Symptoms descends, a child loses acquired skills, normal movement and speech, then begins the long regression that may leave her in a wheelchair, unable to communicate or use her hands. Extreme anxiety, Parkinson-like tremors, seizures and orthopedic problems are common.
Imagine: having a beautiful, healthy daughter; her first words, her first steps, everything she does is a miracle. She reaches eighteen months and she is the light of your life hitting every milestone. She begins to change; subtly at first you notice that your little girl is not meeting those milestones anymore. The milestones that she did meet start to disappear.
Slowly, her speech begins to disappear. She once had a few words she now screams in frustration. Toys she loved to play with lay abandoned as her hands won‘t do what she wants them to do: instead they have a life almost of their own: repetitive, uncontrollable movements.
Imagine: the first of many seizures take hold of her.
Abnormal muscle tone causes her to have abnormal posturing as scoliosis sets in.
Her breathing becomes erratic, as she holds her breath for a minute at a time.
She may stop walking altogether. She may be put on a feeding tube because of the lack of oral motor skills. This lack of motor skills hinders her ability to coordinate food in her mouth.
She will require 24 hour care for the rest of her life.
We have since learned that Eva is one of the “lucky, unlucky” ones. Eva is able to walk, and has not yet had any seizures and she continues to be able to eat regular food. We also realized that Rett Syndrome is a very rare disorder and there was not much for information available.
Fortunately for us research has come a long way studying Rett Syndrome. Five years ago clinical trials were a dream; today multiple clinical trials have been launched. Eva will be enrolled in a trial this winter that will hopefully treat the symptoms of Rett Syndrome.