Zenaida Jimenez via Crowdrise
October 09, 2012
BENEFITING: RETT SYNDROME ASSN OF MASSACHUSETTS
ORGANIZER: RETT SYNDROME ASSN OF MASSACHUSETTS
EVENT: 2013 Boston Marathon
Our beautiful daughter Cristia Isabel was born on Feb 2, 2007. From day one she was adored upon and the center of our universe. She weighed 8 pounds, and had a beautiful head full of hair. We took her home and she was growing beautifully. Every checkup was impressive. Our only concern was that she was not very strong, she seemed very floppy, but she was reaching milestones almost right on time. When she turned 11 months all of the sudden something changed drastically. Cristia Isabel started to ignore us. She didn’t seem interested when we spoke with her and her body seemed even more floppy than before. People who didn’t know her didn’t really see the change, but us parents we noticed right away. My motherly instinct was telling me something was terribly wrong.
We had to wait for her first birthday appointment to express our concerns to her pediatrician. At her one year checkup we told the doctor to do something more than the norm because at this point we were concerned of her overall development. We were expecting him to say the reassuring words how she was developing at her own pace. To our surprise he referred us to Early Intervention Cervices at North Bay Regional Center. They started her with physical therapy at the age of 13 months, speech and language therapy at 15 months, and occupational therapy at 16 months. In the mean time we were frantically looking for answers. We wanted to know what was happening to our beautiful girl. We were doing every test available and every test kept coming back negative.
In October 28th, 2008. We received the last test results we were waiting for. Cristia Isabel was diagnosed with Rett Syndrome at the age of 21 months. Our lives were turned upside down. We learned that our daughter had a genetic disorder that was going to impact her physical ability in a severe way (she does not talk, walk or have any purposeful hand use). She still receives therapies daily and slowly she is making progress. Her motor (muscular) system, being the most affected, has Cristia Isabel trapped in her body. She understands everything that is going on around her but her body won’t cooperate with her. There are complications ranging from seizures, scoliosis, nutrition fulfillment, feeding, communication, breathing problems, heart problems, sleeping problems, just to name a few.
At this point Cristia Isabel struggles tremendously with breathing and feeding. We have a world of challenges every day. But as difficult and heart breaking as it is, it is inspiring to see how many people are on a worldwide quest to find a cure for this condition. They are developing treatments to improve the life of girls like Cristia Isabel. In the mean time we have to work hard to provide the best quality of life for her. When we look in her eyes all we see is POTENTIAL. We are confident that you will see the same.
Cristia Isabel is very funny and very smart, she loves to learn, she loves to dance, she loves to have friends, and she has the best classmates and teachers a mother can ask for. One thing that she absolutely detest to do is homework. Cristia Isabel has dreams and preferences like any other 5 year old child, and some keep changing. A desire that has never changed since she has been able to communicate is; she wants to walk like her friends and she works really hard on this dream. She has shown us, love, compassion, determination, patience and resiliance. She has a gentle soul. We are honored to be her parents. And I am honored to run 26.2 miles for her and all our wonderful girls (and a few boys) that keep fighiting everyday. Because giving up is not an option.
Thank you so much for being part of our journey.
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!