Elise's geneticist called and gave us her latest test results. Deletions and duplications were being examined in her chromosomes.
Again, it came back normal.
This tells us that all possible variances on the MECP2 gene for Rett Syndrome have been tested so genetically Elise doesn't meet the requirements. Clinically, she still fits under that category. 10-15% of rett kids are diagnosed as Atypical Rett Syndrome without blood work showing that.
The geneticist isn't comfortable throwing out a diagnosis yet for Elise and is still determined to find the underlying cause. She has a couple more tests that she feels is relevant for Elise and wants to observe her again to see if she missed something from her previous observation.
A diagnosis would mostly be beneficial to us for Elise's and our future. With whatever she has, are there regression stages and/or possible health issues that we'd need to be aware of and keep an eye on?
We're not sure how much longer we'll keep playing this testing game. Emotionally we're not involved in it anymore which makes this whole thing so much easier. It is what it is. We'll probably go ahead with this next test and see how we feel after that.
Elise is continuing to receive intense therapy 18 hours/week in addition to speech and occupational therapy. She is improving more and more and we are so proud of her and her persistence. Who she is is not defined by a diagnosis. She is Elise, the happiest, most angelic little girl who can make anyone smile and we love her to pieces!
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!