The genetic counselor called this afternoon. I didn't realize how nervous I was until I saw my hands shaking. She told me Elise's results were normal.
I was so confused. I started crying when I hung up the phone. I kept thinking I should be excited, grateful and relieved at this news. Why was I feeling this way then? It was the oddest mix of emotions and I was really flustered.
All I could think about was getting out of there and sorting through all this in my head. I was already planning on going to the temple so it was perfect timing.
As I was going over everything, I realized I had already grieved and gotten to the acceptance point of Elise having Rett Syndrome. I have grieved and accepted Elise having autism. I have put my whole heart out there with each one. For each one of them it has been emotional. I feel like I can't fully move on until I know and now I have to wait some more.
Don't get me wrong, I am very grateful and relieved it is not the classic Rett Syndrome! It is a blessing.
I am mostly confused now. The geneticist and genetic counselor are as well. Elise's primary diagnosis from the geneticist was Rett Syndrome and both of them were so sure. I was sure. She fits the mold. When we talked on the phone she said she still believes there is something going on, given Elise's history and presentation.
The next step is to do a more extensive test. This will test 20 genes rather than 1. Because of the increased amount of genes to test, it will take 4 months to get results back. They will be looking at Atypical Rett Syndrome and Atypical Angelman Syndrome. With each of these, they are either less or more severe than the typical form of that syndrome. If Elise did have either one of these she would be on the less severe side I believe.
I feel peace knowing she is getting all the therapy she needs, no matter what she has. I am grateful the test results came back today. It was a tender mercy. I prayed the other night that we could know before Monday, because Ez and I will be separated from each other during next week. I didn't want to find out without him there and able to talk to. We are being watched over.
So for now I won't get worked up on what she may have. It's too hard.
Come what may and love it, whatever and whenever it may be!
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!