A common theme I've felt...
and heard from others...
since our entrance into the crazy world that is Infantile Spasms...
Not necessarily why me? Why my family? But why...or maybe more accurately what? What is causing this insanity? What is it exactly that's broken inside my beautiful...innocent...pure-hearted...son? Put a face to the Monster.
It dawned on me rather quickly into his diagnosis (with the help of this post) that the seizures were not the cause.
The seizures are the symptom of a cause. A cause. A...as in one of many many many...possible causes.
Ever since that sunk in...I have been on a quest to know why. Or what. I suppose I could make it sound all important and selfless by saying that knowing what helps with knowing how - to treat. And I do believe that. But my unquenchable thirst for knowing what is being driven by something deeper. Maybe it's a mommy thing. Wanting to deeply understand and know each of my children. I don't really have the time to analyze my motivations for everything I've said...or done...or pursued...over the course of these past two years. I'm open to qualified individuals doing so. So long as there is a happy pill prescription included!
Oh and has this quest ever taken us everywhere! Only the land us right back at square one again!
At one point we were told that Trevor has mild Cerebral Palsy. His 3T MRI is in agreement. Revealing bilateral PVL. Which Dr. Neuro has speculated may have been caused by a prenatal stroke. We'll probably never know the cause of the PVL. Somehow I'm okay with that.
But the cause of the spasms?
We've had extensive genetic work ups. Which sent us sailing on an entirely different sort of roller coaster when Trevy's ARX gene revealed a mild mutation. His mutation or change was the first of that specific kind to be found. Which prompted Baylor Laboratories to sample Toby's genes pro-bono. Everyone...including Dr. Genes...was shocked when Toby's sample revealed the same change. We were told it was likely benign. But "just to be safe"...we should have Bristel tested. To make sure she's not a carrier. You know...for when she starts making family plans.
We've turned over every rock. Looked into every crevice.
Removed half of his brain. So that the tissue could be sliced and diced and studied.
And we could finally have our answer.
Which arrived wrapped in a big manila envelope the other day. An envelope I tore open. Only to be disappointed because I couldn't digest the information contained inside. My lack of understanding led to emails sent out to both Dr. Neuro and Dr. Rockstar.
Dr. Neuro emailed that she would be calling me to discuss the heterotopia in the pathology report. Which after reading sent me immediately to google. I had no clue what heterotopia meant. But it sounded important. Thank God for google. It was there where I found a synonym term with which I am much more familiar. One of the many many many possible causes. An answer. Trevy's answer...
Malformation of Corital Development.