It's been a tough week. If you don't want to know why, I'd skip reading this entry.
Back when all this started, we went to see a geneticist at Cedars to see if there was a genetic cause for Soren's Infantile Spasms. While this wouldn't offer us any kind of cure, we hoped it would give us the "why" answer that everyone had been looking for. Plus, if we could then check if Moira was a carrier of any genetic mutations, we could hopefully prevent her from dealing with this problem when she had children.
We did a special test to check if Soren had a mutation of his ARX gene. They had recently found this gene and mutations of it could cause Infantile Spasms. His test came back negative from this. After this, we dropped the genetic ball for a bit. It wasn't going to change our course as far as how we were treating Soren. We knew our goal was to stop the seizures and to work on furthering his development. That wasn't going to change.
But then my cousin's daughter started having Infantile Spasms as well. She had started having seizures right after birth. But then the IS developed as she got older. So I thought exploring the genetics would be worthwhile again.
Soren and I went back on Tuesday. And I've kinda been a wreck ever since. As soon as they saw him, they noticed that he was wringing his hands--something he does ALL the time. Then he starting "clapping" his hands (not with sound, just bringing them together). Both of these are indicators of a NEW gene mutation that has been recently found. It's interesting, we were always SO happy that Soren brought his hands together. Bringing your hands to midline is very important in development. And we've always thought his hand clapping was him signing "more" (which I still think he is at times). But now we've come to realize that these may just be part of his disorder. Lovely.
The gene in question is called CDKL5. It's an X-linked gene and a mutation of it can cause Infantile Spasms/West Syndrome. The geneticists also noted that Soren's head is not growing as much as it should. This is called microcephely. This indicates that his brain is not growing as it should either. If you want to get really depressed like I've been all week, google CDKL5 and microcephely. But I wouldn't recommend it.
The doctors were quite excited to see all these indicators. It gave them hope for an answer. Of course, my heart sank. They took pictures of Soren's head, his crazy cowlicks on the back of it, got photos of him wringing his hands, clapping his hands, and of the inside of his mouth (Soren has an underbite). Now we have to work on getting the actual blood test. That takes a little bit of negotiating with insurance companies.
If Soren tests positive for this mutation, I will then get tested. Since it is an X-linked gene, he could have gotten it from me. It could also be a new mutation, meaning that Soren was the first in our family to have it. But if I also have the mutation, we would then test Moira. If she had it, it could affect her choice in having children. Also, if I had it, my sister would probably test for it since she has two daughters as well.
Of course, his test could come back negative. But that just means that we have to wait around for the next mutated gene connected to Infantile Spasms is found so we can test for that. It could go on forver.
But, most importantly, what does this mean for Soren? If he does have this mutation, there is no cure. There is nothing to help the microcephely. So we would go about our lives as we have, doing the best we can for him. Anti-seizure meds, therapies, school.
And then there's our great hope for the stem cell injections. Everyone on the team was very interested in the fact that we were getting them done. They were interested in the changes we'd seen so far and eager to see what changes Soren might have with these next rounds. There are other children with this disorder, and if stem cells could give their parents hope for their children, the doctors would like to pass that information along.
Three weeks from today we will be back in the DR. Three weeks from tomorrow we will get Soren's 3rd injection. And then we wait.