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!
Ever leave your room to take folded clothes to your daughters room, walk into that room and see that your son "fed" the guinea pig...
Lily was granted a Make A Wish some time last year. I can't tell you what we had for dinner last night so don't judge. I recently th...
This was one of my most favorite jokes to tell as a kid. What did one tonsil say to the other tonsil? Hurry the Dr. is taking us out tonight...
Today is the one year anniversary of the scariest day/weeks of our lives. On this day, April 7th, last year Lily had her spinal fusion surge...
Deuteronomy 6:4-9 Talks about imprinting the commandments on our hearts, impress on our children, vs9 says Write them on your door frames o...