Monday, May 4, 2009

Disconnected

According to my new ENT, there's a problem with my connexins. These proteins, pictured above, assemble in a pretty flower shape on cell membranes, interacting with connexins on neighboring cells to form gap junctions. Gap junctions turn out to be important to neurochemical signaling. So, specific types of mutations in the genes encoding connexins can lead to deafness and/or hearing loss.

I elected not to have any genetic testing done at this point, because it wouldn't change my treatment, but the doctor said that connexin mutations are the most frequent causes of slowly progressive sensorineural hearing loss -- and that these mutations, autosomal recessive alleles, occur at a higher prevalence among Ashkenazic Jews (who, it turns out, are also susceptible to fat metabolism disorders and GI disorders, probably among other things I haven't learned about yet. All those population bottle-necks, I guess?). So it's likely that this is what's wrong with me.

I guess it's nice to know that. It gives it some closure, and gives me a good idea what might be in store in the future. It's also a little weird, though, being someone with a "rare genetic condition", whom I should be seeing on an evening news story rather than, well, the person who is looking out through my eyes. It took me awhile to get used to being "the girl who wears hearing aids"; now I guess I'm also "the girl with the rare genetic disease." I got used to the hearing aids, though, so I'm sure I'll get used to this -- it'll just take some time.

6 comments:

Meg said...

But, as you say, it's so satisfying to at least know what's going on!

I had somehow lost track of your blog (Jess pointed this out to me). Definitely bookmarked -- I will be reading from now on! I miss you!

Rica said...

Hey Meg! Thanks for reading! I miss you too -- been meaning to email for awhile. I think I'll do that now. ;)

AAC said...

So now you have an answer -- whoa. And you are never "that girl" :)

Rica said...

Thanks, A. :)

Ken said...

I'm sure you've thought of this, but the genetic test does have the potential to be useful. Of course, a positive result (that you do have the mutation) simply confirms the diagnosis. But a negative result (admittedly the probability is low) opens the door to a lot of possibilities: the connexin degradation might be caused by something environmental (the KGB has been following you around and secretly poisoning you) or the entire diagnosis is wrong. (Or more boringly, the genetic test has a degree of error.)

Rica said...

Hey Ken, thanks for the comment. I guess that's true -- but I'm not sure it would even help. The environmental-type hypothesis has been on doctors' maps for awhile -- something like use of certain antibiotics when I was a baby might have caused it. But we haven't been able to come up with anything that might potentially be related. Maybe a House-like search of my home and school is in order... ?