It was 1 year ago at this same appointment that changed my life forever. Another curve ball was thrown at me again today.
As Elise's pediatrician and I were discussing Elise and I was describing her more in depth she told me she would be surprised if Elise didn't have a syndrome instead of autism. I was surprised at her bluntness but not shocked. We have discussed here and there the possibility of her having Rett Syndrome, but until genetic testing is done, we won't know for sure. Testing is still on hold until we get an appointment (these appointments take forever to be seen!).
Elise's temperament, lack of motor skills, abnormal breathing patterns, and hand movements all point to Rett Syndrome. She fits the mold. The doctor said she doesn't have the classic autism behavior and there were a few other things that are steering her away from it. I am so glad she was honest with me. She is an incredible doctor!
Rett Syndrome is a neurodevelopmental disorder and can be diagnosed with genetic testing on the X chromosome. Rett Syndrome looks like autism, affecting primarily girls, but has quite a few differences. There are 4 different stages, the last one being motor deterioration.
Elise shows many of the signs but until testing is done I am trying not to think about it until we know for sure. I may be spoon feeding her a lot longer than I thought I would have to!
I LOVE being a mom to my 5 kids; one with special needs. There is no greater joy than being a parent! I love each one individually but this blog will mostly focus on our daughter with special needs and our journey with her. Thanks for reading!