I just got Sonya’s WES back today – it found absolutely nothing else (other than her known CDKL5 mutation). There were not even any variants of uncertain significance. And mitochondrial sequencing was normal too.
So at least we know there’s nothing we’re clearly missing in terms of a second diagnosis."
4 years ago Sonzee received her official diagnosis. It is the reason behind her seizures, the reason given for every other situation she has encountered since. The reason that has never given me any excitement as an answer because there is no solution to the issues with an answer like CDKL5. It was a reason and an answer that just wasn't good enough, so we sought for more clarity, and just shy of 4 months since we did so the answer remains the same.
While I should be ecstatic that her only mutation is CDKL5, I am honestly completely devastated. I feel the wind has been knocked from my lungs all over again. Every single one of the additional diagnoses that she has acquired since she was a newborn baby are all due to a spelling error on one gene out of the 20,000-25,000 that she has in her body. How can one little gene carry that much weight, how can it hold so much responsibility, how can it create so much havoc?
I wanted there to be something else to share the burden of all that has happened to her body. I wanted to be told that her brittle bones and her horrific GI system were not all due to her CDKL5 mutation. After all, there are not as many children who have either of those issues in the same manner as Sonzee, so there had to be another reason why, another gene to blame, another thing that could share in the cause, another thing "Sonzee related" that explained why.
But here we are, 4 years into her journey and 15 years since the CDKL5 gene was identified in 2004, and children like Sonzee are still seizing 100s of times a day, are still unable to walk, are still unable to talk, are still unable to live independently, and are still dying, all because of a "tiny" mistake on an extremely imperative gene for typical function, all because of CDKL5.