Monday, June 15, 2009

In Which I Get Myself Worked Up Over Things I Have No Control Over

Well, son of a gun.

I'd intended to return you all to our regularly scheduled Medical Monday program, and I was doing research to that effect, when I stumbled on a couple of crazy articles linking Usher Syndrome Type 2 to not only the 1q gene, which I already knew, but 15q as well.

Here's a blurb about Usher 2 I pulled right off the NIDCD's website:

Type 2

Children with type 2 Usher syndrome are born with moderate to severe hearing loss and normal balance. Although the severity of hearing loss varies, most of these children can benefit from hearing aids and can communicate orally. The vision problems in type 2 Usher syndrome tend to progress more slowly than those in type 1, with the onset of RP often not apparent until the teens.

RP is retinitis pigmentosa, by the way. Now, obviously Connor doesn't have Usher syndrome-- you have to have no issues other than the hearing loss and RP for that to be your diagnosis. For that matter, Connor's hearing loss isn't presenting like Usher syndrome Type 2 as the loss has been progressive, and I'm pretty sure that particular type of Ushers has nonprogressive hearing loss. He shouldn't have a gene mutation in a gene that is missing entirely, as is the case with his first chromosome. However, it does make me wonder whether or not we need to worry about Connor's vision in the future, and whether or not it might not be worth calling up his geneticist to see what she has to say about it. After all, basically what that tells us is that something related to the way your ears and eyes work is based on that specific stretch of genes.

So I've gotten myself all worked up again about something that:

a) probably has no relevance to Connor
b) isn't something I can do anything about
c) isn't something a doctor can give me an answer on anyway.

This is one of the hazards of doing this kind of research when you have a kid who is one big unknown; you can end up scaring yourself with all of the possibilities. Sometimes I wish I had a kid who came with more of a guide book. When I go to the bookstore and browse the shelves, there are lots of books that give information about all sorts of genetic issues-- outlining things to watch out for, giving resources and contact info for support groups... other than Chromosome Disorder Outreach (CDO), there's nothing out there for Connor, and the only thing we really have in common with pretty much all of the kids in CDO is that we don't have any answers.

In some ways this is a good thing, as it leaves us without a gauge of how much Connor could potentially do, so we're not going to underestimate him. Sometimes it's nice to set expectations aside. We're also more likely to have opportunities open up with doctors and therapists who want to see him, as he's a medical novelty.

In other ways, it's really really scary being a trailblazer.



Colleen said...

I know what you mean...sometimes it's a nice not knowing what exactly to expect when you have a child with a rare chromo disorder, but on the other hand the unknown can be scary. CDO is awesome and we have never found anyone with the same EXACT chromo disorder as our son's, but I guess it's encouraging in some way to know that most of the kids are in same boat and they are writing their own book like us.

Julia O'C said...

I, too, know what you mean. It's kind of lonely, isn't it?

Wellescent said...

Your trailblazing efforts are admirable. Just make sure to keep the balance so you don't burn yourself out. One highly motivating individual who I recently read about has been getting access to occasional university genetic analysis equipment and is learning genetic and chromosomal analysis to better understand the condition afflicting his daughter. That kind of commitment is astonishing, but I couldn't but feel for the poor fellow pushing himself so hard.

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