First Genetics Appointment

First post in quite a while – it was a busy holiday. I’ll probably tackle some of my  thoughts / feelings during that period at some point soon, but we just got back from the genetics appointment so I thought I’d write about that now while it’s fresh.

The first thing that comes to mind is a blurb from our last audiology meeting that I don’t think I wrote out here. We were speaking with the audiologist and the director of the oral school and getting them caught up with what other people we had talked to and where Alex was with regard to all of his other appointments. When we told them that one of the next things coming up was a genetic test, they were both somewhat surprised – apparently it’s pretty rare that their kids’ parents have that testing done, which in turn surprised me. I certainly understand the whole “ignorance is bliss” approach, but don’t you still do it so that you can get in front of anything else that might be coming, or even better, that you could get some verification that nothing else WOULD be coming?

Anyhow – the director cited a pretty wild figure, something to the tune that she only knows of three or four kids who went through her program who had the testing done, so they’ll be interested to hear how the experience goes for us. We’ll certainly share that information with them.

The appointment itself was pretty standard stuff. Nurse comes and gets us, takes Alex’s height, weight, and head measurements. Another person (I’m not sure what her title was) then came in and asked us to reiterate what was going on with Alex at a high level to make sure that it jived with the notes that she already had. Shannon did so. She then went through the following questions for both Shannon and I:

  • How old are you?
  • Do you have any medical concerns?
  • Do you have siblings? Do they have any medical concerns? What’s their age?
  • Do you have living parents? Do they have any medical concerns? What’s their age?

Obviously she was looking to see if there was an obvious genetic history to trace Alex’s issue to. She went over dominant and recessive genes quickly and explained to us that there could be multiple steps in the analysis. The first thing they want to look for is Connexin 26. This gene accounts for half of all cases of genetic deafness. The “good” thing about this gene is that deafness is basically the only issue associated with it, so if we happen to fall into that category, we’ll get some verification that Alex’s deafness isn’t symptomatic of something larger.

Our next step is to have Alex get a blood draw from Quest Diagnostics. From there, a lab will test specifically for Connexin 26, and we’ll go from there. If the test comes back negative, another test will be done to look for other common genetic issues that have deafness as a symptom. It’s still quite possible that Alex’s deafness isn’t genetic, and if that’s the case, we’ll just get a bunch of negative tests.

A doctor was supposed to see us next, but it turned out that she had gotten caught up in the brutal weather we’ve had today in Buffalo and wouldn’t be in until later. That was somewhat of a downer since we were told that a lot of her training involves being able to visually detect issues, and it would’ve been nice to hear that he didn’t have anything visible going on. That said, Shannon and I have both stared at Alex plenty and haven’t really seen anything that would raise any flags, so we didn’t walk out of the office with our heads low.

I had to tell Shannon while we were waiting that I hated that we had to be doing any of this. Even though we’re busy and we’re ready to get to work and we know that the outlook could really be positive, just having to make Alex (and in this morning’s case, Taylor) go to these was a little sad, even though they both didn’t seem to mind one bit.

Next steps: Get Alex’s blood drawn, wait a few weeks for results to come back (they are ONLY testing for Connexin 26), and draw a plan of attack based on those results. We were told that we probably won’t have to come back into the office any time soon even if more testing is ordered, which is nice. Anything that helps to keep the appointments to a sane level is good.

Anyhow, a pretty straightforward appointment, but I thought I’d write it all out for anyone who’s interested in what one of these looks like.


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