Hello. My name is Abby. I'm eight years old and I was diagnosed with Rett Syndrome when I turned two. My parents work hard to help me make sense of the world around me and this blog is meant to help others understand my world and my journey with Rett Syndrome.

Tuesday, October 13, 2009

How we got where we are now

Hello. Let me first tell a little about how we got where we are now. Abby was born April 13, 2006 a healthy beautiful little girl. She was everything we expected and then some. It was not until she was about 6-9 months old that we began becoming concerned about her development. She was a late crawler, walker, and the list goes on. I was assured, for a while anyway, that she was just delayed and that, with work and time, she would catch up. When Abby’s development continued to lag into her second year, we began the search to find the root of the problem. After a few rounds of tests at our pediatrician’s office, we were sent to a geneticist to run additional, more specific, tests. The geneticist did not expect any of the test to come back positive, and predicted that Abby had some anomalies that may result in learning disabilities to some degree, but nothing too severe. We were very shocked to get a call back telling us that Abby had tested positive for a Mecp2 mutation causing Rett Syndrome. After our next trip to the geneticist to get more information, we were devastated. The future for our little girl would not be anything like we had imagined. Not only would it be unlikely for her to gain additional skills, but also she would likely lose many of the ones she had already acquired. I knew God had a plan for Abby, but it was not going to be how I imagined.

A little about Rett Syndrome:
www. rettsyndrome.org

  • Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.

  • 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.

  • Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

  • Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

My goal with is blog it to share what it is like for Abby and her family to live with Rett Syndrome. When we first got Abby's diagnosis, reading about other girls' journeys helped us prepare for what is ahead. I hope that sharing Abby's story is helpful to other families facing the same diagnosis as well as spreading awareness. I don't know what the future holds for Abby, but I know that a cure is a very real possibility. I hope our blog helps you understand more about Abby and gives you the motivation that we have to find a cure.

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