Tuesday, April 21, 2009

Validation

A week shy of 6 months, finally I hold in my hands the diagnosis report from the U of Chicago Genetic Services Laboratory.
Here is her result: Deletion involving exon 1 in the CDKL5 gene.
So my gut was right from the start. I KNEW my daughter had a variant of Rett Syndrome. It is a hard pill to swallow when it is a more severe version of an already devastating disease, but it is SO nice to have a name. I know we got the name in October, but I needed to SEE in paper what it is. Not hear about it over the phone.
Andrew and I were negative, meaning "this mutation is therefore a de novo event in this patient. In addition, over 100 normal control samples were also analyzed for the CDKL5 exon 1 deletion and not found to be present, indicating this deletion to less likely be a polymorphism (benign alteration). This deletion is the likely cause of this patients disease phenotype."
Wouldn't a party with a room full of geneticists be a hoot?!
Wow. So weird to come to an end with this. Humm what's next?
I guess the only thing left, to do something to find a cure and stop this from ruining future lives!

4 comments:

Danielle said...

Wowza. I didn't understand half of the words in this post. But I am happy, and sad, that you have a diagnosis.

lizzi said...

Kim- Congrats on your new little boy, he is adorable! It must be good to finally have a reason behind Lily's problems....I'm wondering now if I should get Milo tested for the same mutation (he is VERY similar to Lily). All of your children are beautiful! Best wishes to you!

Brooklyn and Kelly said...

I know exactly what you mean by wanting to have the paper in hand and read the words. I am glad that you have that now. And yes, a cure is next. I continue to pray each day that a cure will be found! Big Hugs from Indiana!

Caitlyn said...

Um, welcome to the club officially? Kelly is right, a cure is next! remind me again, are you guys in California? (I always think of you guys and Jenelle's family together and can never remember who lives where) California has an amazing Rett Clinic if you are interested. I am checking to see if they see CDKL5 kiddos too.

Lots of Hugs from Washington, take care.

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