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!
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