WAAAAAY back when this all began, we did a few genetic tests on the boy. Because Soren had Infantile Spasms to begin with, the first candidate to check for gene mutation was the ARX gene. (I mean, obviously? Right?) Soren's ARX gene was in perfect form. Then along came CDKL5 (STK9, if you're nasty). That test was done in late '06. But the results came back in '07 saying that Soren did not have this gene mutation either. So then we just had to wait until another "seizure disorder gene mutation candidate" came along.
Or did we?
Fast forward to 2013 when my cousin Brad and his wife Christy told us about an institute that was doing genome mapping for children with rare genetic disorders. Hello? Sign us up! So after a fun afternoon of cheek-swabbing, they mapped my genome, Aaron's genome, and Soren's genome so they could compare the three against each other. And then over this Thanksgiving, we got the results! (Don't be jealous of our holiday fun, people.)
The most likely cause of Soren's seizure disorder appears to be a mutation of a gene that neither Aaron or I have, making it something singular to Soren. So we don't have to worry about Moira having this mutation, which was one of the reasons we wanted to get the test done. The mutation would have occurred REALLY early when he was developing. It could have even been a mutation in my egg or Aaron's sperm. One of those things we may never know.
Now why do they think this is gene mutation is the cause as opposed to the other possible candidates? Well, when they did some searches, they found two other children with this same gene mutation that also had 1) Early onset seizures 2) Hard to control seizures 3) Developmental delay. Now, two other kids is obviously not a lot. But it's a something. In order to confirm that this is truly the gene and not just a Red Herring, more kids with unknown causes for their seizure disorders would need to test positive for this gene mutation. But, it's interesting to have a possible answer to the question after all these years.
Oh, and I'm not revealing the gene's name because the doctors have official stuff to write up and I don't want it "spoiler alerted" by some overeager mom with a blog. But if this ends up becoming official, I'll blog about it agin. And make up T-shirts with gene name on it.
I'm not kidding.