My almost 18 year old niece still goes to see the Pediatrician when she is sick and it turns out, yes we go to the same place my sister has taken her kids for years. We have the same Ped.
My sister called and said she is taking my niece and do I have any questions that I want her to ask him. I said "yes please, ask him a time frame for the test please." So she did and he said it should take a week. I am hesitant to believe that. Tests never take a week, especially tests like this, but we'll see. She also said that I am concerned because I am pregnant and he said I don't think she needs to worry about that. Now I am not sure why he said that, but it was a little comforting to hear. So now on to waiting.
In regards to Lily. I understand completely that even if we get a name, or whatever, her care doesn't change. I get that. We still treat the seizures. We still do everything we have been doing from the beginning, but a name, a name changes everything! I was reading back Lily's site and I read that was the exact reason why Neuro refused that test, that a name wouldn't change anything. A name changes everything. A name takes the world that was resting on my shoulders and it is lifted. Yes Lily is still Lily, but there is a reason Lily is Lily. And I don't have to guess why. What's in a name they ask? Well in a name is relief. Comfort. Answers. A name isn't just a name Romeo, a name is huge. This changes everything.
I do not know if this gene mutation will be added to the Atypical Rett syndrome like the recently found mutation in CDKL5, that is all beyond me. I do know that on our lab papers sent out it says retest CDKL5 which is under the Atypical Rett's/Infantile Spasms column. But I know that is not what they are testing. They don't have a name yet for what they are testing.
This is all way over my pretty little head.
Our blood is in Chicago and that is where we stand as of now.
Thanks for all your comments here and facebook :) We appreciate all the prayers you all can muster!
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