Kristyn was diagnosed on January 18th 2012, but her father and I had thought that was what it was for a while. Kristyn was born full term, 3 days before her due date 6lbs 7oz of beautiful joy. I remember the feeling of pure bliss when I held her for the first time. At 3 weeks she got very sick and was put in the PICU on a ventilator because she had come down with R.S.V. and wasn't able to breath on her own. A week later she was better and ready to come home and everything was fine.
At about 6 months I began worrying because she wasn't sitting up independently. At her 9 month appointment in December 2010 I brought it up to her pediatrician and she said lets give her some more time, by February 2011 she hadn't progressed at all and I was done waiting. We took her back in and this time the pediatrician agreed with us.
Then began the long journey of getting an actual diagnoses for her. We started with the neurologist and she was tested for just about everything, including Rett. However the first test came back inconclusive and they still weren't positive what it was. We spent the next 11 months going to specialist after specialist still not getting any answers, I remember going to see one doctor and told us our daughter was a very complex girl. In December 2011 we met with the geneticist for the first time, and the very first thing he tested was Rett and on January 18th 2012 we finally got an answer.
Kristyn is going to be 3 years old this year. A lot has changed since we got our diagnoses last year. Kristyn had her first seizure in March of 2012, it was possibly the scariest moment. Kristyn has lost her ability to eat by mouth or drink from a cup and now is primarily g-tube feed, however we are working closely with OT to get that skill back. We know Kristyn is in there and we refuse to give in to Rett syndrome!