Isabelle (Izzie) is the most amazing 10 year old I have ever met! She was born October 29, 2004. She was so little at birth that the nurse exclaimed "What a little peanut!" and the name has stuck ever since. She was perfect; 10 fingers, 10 toes and a head full of thick black hair.
She was just 6 days old when our fairy tale beginning met it's first bump. When I stepped out of a quick shower, she was blue in her crib. She was quickly resuscitated and whisked to the hospital. After a week long stay and countless tests, we went home with a heart lung monitor and no answers. Life settled down but we noticed that she seemed delayed in hitting her milestones. She was slow to roll over, slow to sit, and by 9 months she was not crawling. She also was not gaining weight or growing. We started a new round of doctors and testing that seemed to go nowhere We began receiving early intervention services in both OT and PT.
At the age of 2, we met with a geneticist. We began a series of tests and we were told she has Angelman Syndrome. We began to network and find others in our community and learned a lot. At 30 months old, she was diagnosed with failure to thrive. We chose to have a feeding tube put in. It was the best decision we had made! She began to gain weight and grow, but she was still not meeting milestones.
On May 21, 2007, there was another diagnosis: Rett Syndrome. Rett Syndrome is a fluke mutation in the MeCP2 gene in the first Chromosome. This is a predominantly female disorder. Girls are born with no visual impairments, however around 9 months they begin to regress. They show the same signs of a child regressing with Autism but it doesn't stop. Girls with Rett have symptom of Autism, Epilepsy, Parkison's Syndrome. Generalized Anxiety Disorder (GAD) and they develop Cerebral Palsy. Many, including Isabelle, have porcelain skin. They are mute but intelligent. They also have rhythmic hand movements, often looking as if they are signing the word "more".
Isabelle loves to cuddle, watch cartoons (especially Dora), having books read to her, flirting with boys and being danced around. She is learning to use her MyTobii (eye gaze computer to communicate) and is finding her voice. We are so grateful to have such an amazing young lady in our family!
She sounds like a great kid! What a lot of work you had to go through to get your diagnosis!
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