Grace for Rett » Grace's Life with Rett Syndrome

A formal diagnosis

Originally posted Dec. 17th, 09


We were summoned to the hospital where we met the specialists who have been caring for Grace who sat me down. It was kind of like a movie – me on one side, them on the other. They very plainly just said “Grace has Rett Syndrome” and then we proceeded to talk about all that it entails and about her particular gene mutations which are special in her.

Girls with Rett’s can have it as a result of a single mutation or a mutation of two genes. She has the single gene. We now have to decide if we’re going to be tested to see if we are carriers. There is only a 5% chance that she got it from one of us and a 95% chance that it was a completely new gene developed out of the blue only in her.

The Drs said that the syndrome started up earlier than usual in Grace (around 6 months they predict) so they don’t know if they can predict the things we can expect in the future.

We’re meeting a geneticist who will look at her genes in detail to tell us more about her particular mutation and what it means for her future. It’s all very early days there are lots more tests to go. She has some symptoms which aren’t typical for Retts and she has to complete her neurological tests (including MRI of brain and spine as well as a possible spinal fluid test) to see if she has another condition in addition to Rett’s.

Because Rett’s is a neuro-muscular condition and she has a delicate immune system, the whole family will be getting swine flu and seasonal flu shots.

There will be no problem traveling to Florida (hopefully in February) and we’ll be traveling with letters to explain her condition should she need medical care or special considerations on the flight, etc etc.

Last night, I said ‘buh-bye’ and she copied me. It was the first time I’ve ever heard her voice it was beautiful. They said she is probably at the end of her regression period and will just continue gaining skills from here. The Dr. said that one of her 2 1/2 yo’s who got her retts at 16 months has just learned to walk. We are hopeful  🙂

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