Erica Robertson via Crowdrise
January 20, 2013
BENEFITING: RETT SYNDROME ASSN OF MASSACHUSETTS
ORGANIZER: RETT SYNDROME ASSN OF MASSACHUSETTS
EVENT: 2013 Boston Marathon
Avery was born via C-section on 07.08.06 after 41 weeks and 3 days-She wasn't ready to come out! But we were so ready to meet her. I'll never forget my husband telling me: "it's a girl!" We were so overwhelmed-with love and anxiety but she was an easy baby. She rarely cried and was very independent from the beginning.
Because we were first time parents it wasn't until Avery was about 8-9 months when we first noticed she wasn't meeting her developmental milestones. Her pediatrician told us she was fine. We weren't really ready to accept anything was wrong at the
time so we didn't get her started with Physical Therapy until she was 16 months. After 4 months she was walking. She had inserts in her shoes for ankle stability and now wears arch support orthotics. We had some basic genetic testing that came back normal in spring of 2008. Rett was mentioned but she didn't seem to "fit" in that category so we put the test off. She was evaluated by Early Intervention at the Regional Center of the East Bay (ironically where I used to work!) in June 2008 and was denied.
We got her re-evaluated in November of 2008 and she qualified. She received Physical Therapy, Occupational Therapy and Speech through EI from Jan 2009-June 2009 and now receives these services through our school district. Avery's favorite part is the school bus!! From the age of 2-3 she would have meltdowns out of nowhere-inconsolable crying, screaming and crying in the middle of the night. We had no idea what it was-hunger, pain? It was Rett syndrome taking her away from us. Just prior to her starting school, right around her third birthday we noticed her repetitive hand movements. Deep down I thought it was Rett syndrome-but I ignored it. Chalked it up to a sensory thing. Our neurologist felt differently and suggested it might be time to test for Rett. I was devastated. We didn’t want to know. From what I knew about Rett, she was going to end up severely disabled. I think I cried for 2 days straight and we hadn't even done the blood work!
On November 9th, 2009, after I had convinced myself the test would be negative our whole world changed as we received the news that she had tested positive for Rett Syndrome. We were shocked and sad but mostly relieved. Even though it is extremely difficult, we now know what we are up against and are going to fight it every step of the way. We have a large group of amazing and supportive friends and family who all care about our special little girl as much as we do. This journey with her has given us a new perspective on life and the importance of things most take for granted. Avery has a determined spirit and tries so hard. She has made incredible progress and delights us with how smart she is. She also tries so hard to communicate-at one point she had 25-30 words/word approximations but they are all gone now due to her continuing regression. She loves to be in the pool, listen to music, eat anything and everything, dance, be with her friends at school, ride the bus and torment her little brother! She has the best giggle, gives great hugs and has an amazing dimpled smile that melts our heart about a hundred times a day.
Rett syndrome is caused by a mutation or deletion on the MeCP2 gene and is mainly only found in girls (it is X chromosome linked) although there are a handful of boys out there. Avery has a deletion at the “end” of the gene and that makes her symptoms less “typical” but it still causes a host of issues. Many girls are not able to walk or speak at all. Many have uncontrolled seizures, feeding issues and other health problems. Avery is prone to having seizures but luckily we haven’t had to deal with that yet. She is also prone to developing a heart condition that can cause her to die suddenly. Avery will have EEG’s and EKG’s every year to check on these issues. She is constantly moving her hands together in a repetitive motion. She still screams a lot and cries for reasons we have yet to figure out. We were so lucky to have had her call us mommy and daddy but she no longer able to say them. She is 6 years old and still in diapers. I spoon feed her all her meals, dress her, brush her teeth, and bathe her. She can no longer sit and turn the pages of books and magazine liks she did when she was 3. She cannot play with toys. She cannot sit long enough to watch a movie or even a TV show. It is so hard for us to be around children her age-to realize all that she cannot do and will not do unless a cure is found. All of our dreams for her have been crushed. She will never drive, fall in love or get married.
However, there is a lot of hope! Researchers have reversed symptoms of Rett in mice! They are working diligently to figure this out as we speak and when they do it will open doors to a host of other disorders such as autism and Parkinson's. Two human clinical trials for rett syndrome are in the works and more could be coming. It is an exciting time in Rett history. We are close to having real treatments-raising money for RSAM will help us get closer. Im honored to be a part of Team Rett and to get to run in the prestigious Boston Marathon. I will proudly wear my Team Rett shirt and will run for Avery and all our girls....thank you for your support!
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!