A Lesson in Genetics

Most of you know that Jason and I have been set up with a geneticist and a perinatologist who are working on figuring out if Gavin's "syndrome" was passed from one of us, or if it was just . . . Gavin. Finding out this information will help us have a better picture of what to expect in the future with children or if it's not a good idea to have any more children. Needless to say, we have been on pins and needles waiting to meet with the genetic counselor. We were finally able to get an appointment this past Wednesday and our meeting went well. It's not that the news is great . . . it's just more information. As we met with the genetic counselor we were informed that Gavin, in reality, had some type of syndrome because even a "lack of development" is caused from something genetic. In short - everything is genetic. A small mutation in a gene could have caused his brain to not develop correctly, etc. The difficult part is that they weren't able to find an identifiable syndrome or mutation with the tests they already did on Gavin. So, here is our new lead . . . the autopsy said that he had certain characteristics of two different clusters of syndromes, but that his tests were negative for the already known syndromes in those two areas. However, they know which genes mutate to create these syndromes - and we can test for that. Just to be brief . . . the two mutations we are looking at are 1) the Filamin A gene and 2) an X linked gene. The scenario is better if we find it's a Filamin A gene mutation. If they can identify a mutation in the Filamin A gene it means that this was just a fluke. For whatever reason, this gene mutated and created "Gavin's syndrome." Every single person has the exact same chance of having this happen to their child . . . and my risk doesn't even increase with my future children. This is the information that seems most promising - but they told us that they are overly cautious in genetics. If they only knew I LOVE THEM FOR BEING OVERLY CAUTIOUS! They have tests available to look at the two different types of mutations we are looking into however, the trick is finding a lab that will be able to do the tests. So, as of now the geneticist is gathering some more information about which lab will perform the tests and she is obtaining some of Gavin's blood from PCMC. We are just waiting to hear from her to see what the labs say. We are keeping our fingers crossed that we can find a lab willing to do these tests for us. There is nothing concrete about either of these scenarios, but at least it's a lead! We will take that for now! Patience is so difficult to learn, don't you think?