Wednesday, October 29, 2008

Small update

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!
Much love!


Brooklyn said...

I am new to your blog, I am a mommy to a sweet Rett Syndrome gal, her name is Brooklyn. I have been reading your site, getting "caught up" is all so over - whelming isn't it? You and LilyAnna are in my thoughts and prayers. Hang in there girl - you are one amazing momma! If you want to check out my sweet little "Brookie Bean" her blog is or at

Caitlyn said...

This is all very exciting for you guys, I'm sure! I do know what you mean about having a name! And how exciting to be part of a ground breaking find! I wonder if this gene may give answers to families with a clinical Rett Syndrome diagnosis, but a negative MECP2 mutation. Hope for all, I'm sure.

Kay said...

Hi, I am also new to your blog. I am mom to a cdkl5 girl, Jade, and my google alert showed me to your site. I was wondering, did they test LilyAnna for the foxg1 Rett mutation? And yes, putting a name to a disorder is more important than doctors think. They fail to think about how we find comfort and support in others who are going through the same thing. I hope you receive the test results in a relatively short amount of time and that you find the answers you have been waiting for. I know it helped me a lot. LilyAnna is incredible! You can visit Jade at if you are interested :)

Popular Posts