Monday, January 10, 2011

A day at the geneticist

Cindy posts that her family's been having a hard week. I do admit I've wondered how it goes in larger families; once one child comes home with a flu or something, does that inevitably means it goes around and everyone gets it? Even in our family of four, often just because a kid has a cold doesn't mean that the parents will get it, but it's almost guaranteed that the other kid will pick it up. Voov acquired a viral fever from her cousin at Xmas, and then had some congestion, so we had to have the humidifier on every night. We were going to put the humidifier away, but then Shmoop started getting congested too. And now he most likely has an ear infection. (And a rare, for him, incidence of eczema behind his knees.) The fun never stops!

Voov's eczema has been moderate for a while, so that's why I haven't mentioned it. Some on her scalp though. Whenever she gets stressed about anything, even momentarily, her hands shoot up to her head and she starts scratching away. I have to laugh because I do the same thing, even though I'm all grown up. It's a reflex.

Eczema isn't the only nonstandard feature Voov came equipped with. She's also had a few weird things with her eyes; she took a long time to learn how to walk and talk; and her face looks a little odd--her forehead's kinda bulgy, and her eyes look far apart. Taking everything together, her pediatrician advised us to get a genetic consult to determine whether she might be suffering from some syndrome. So that's what we did today-- went in for the consult.

We saw an MD and a genetic advisor, who asked us all kinds of questions about medical conditions in our families (we had also come with a stack of photos of family members so the docs could compare Voov's face with the photos) and took measurements of length ratios of her fingers to palms; torso to legs; pupil-to-pupil vs. width of the bridge of the nose, etc. At the start, the docs were almost too caring and friendly--it was unnerving, like they were preparing for us to freak out if they found something was wrong. But in the end their initial conclusion was that Voov had no obvious syndrome (although the bridge of her nose is very wide). Which was a huge relief, of course. However, they did suggest that we get done a procedure called "array comparative genomic hybridization," which I'd never heard of, and which consists of comparing stretches of Voov's genome to standardized DNA from "normal" people and looking for deletions and insertions.

Since there's no pressing need to get this done, I'm actually not keen on it. I could imagine that the test might turn up some deletion or insertion that might be associated with a fractionally increased risk for some condition, and then we'd just have something new to worry about. Hidden B wants to get it done, though. She says she wants to know, and that we might find out that (for example) we should get Voov's heart checked out, or at the very least, we'd be contributing her genetic information to a databank that would help other parents.

I can't really argue otherwise-- if there's something definite we could act on, we need to know. The thing is, what's more likely is that there won't be anything definite, or there might be something definite that we can't do anything about. I know that much is true about genetic information.

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