So I was sitting here trying to figure out what to blog about. I thought I would skip it for this week, but thought the better of it. I can comment on the fact that I just heard from a researcher that knows a good amount about the gene mutation that CB has. I am sitting on pins and needles just thinking about getting to talk with him. Who knows what he can share? Who knows what this may lead to? He is luckily in the process of moving to my state so his schedule is a bit packed so we will chat on the phone or skype in the next week or 2. So far, I have found very little about the gene’s functionality. This researcher has at least met several others with this gene mutation and has greatly studied the effects of having a loss-of-function of the gene. Fingers crossed this leads to further understanding!
I just keep thinking that if we understand the function of the gene, that there would be a drug, therapy or some other way to directly target a neurotransmitter or protein that would help synaptic transmission in CB’s brain. When I really think about it, I think this is very optimistic thinking. This is probably where the mom of a recently diagnosed child with a genetic mutation’s mind goes and the chances of this actually happening is super low. Who knows where this discussion or potential relationship will go, but I feel it will be nothing but positive and informative for us and hopefully for the researcher too.