Wednesday, September 23, 2015

Nada, nothing, zilch.

That's what the extensive genetic testing results just revealed. I'd had BRCA testing a couple of times over the last several years, including the BART large rearrangement test, which had revealed no mutations. My mom had had a "variant of unknown significance," which I'd assumed I'd inherited, but I didn't. Because of the rampant cancer on my mom's dad's side (breast, ovarian, esophageal, and bone) I was absolutely convinced that my family had Li-Fraumeni syndrome (to put it simply, it's a rare familial cancer syndrome that almost ensures that inheritors of the mutation(s) will get cancer at some point in their lives). Convinced! Nearly to the point that I couldn't wait to prove my geneticist wrong. Well, well, well...

Right now I'm still considered an "uninformed negative," because I don't know whether members of my extended family ever had any genetic testing done prior to succumbing to their diseases. My geneticist told me that if, in time, my mom's variant gets classified as an honest-to-goodness mutation, then that will classify me as a true negative.

I'm actually NOT relieved by any of this news–in fact, I'm even more worried, now, and more than a bit disappointed, in a way. Because this means that my cancer is a fluke, a bad cosmic joke. If I didn't have bad luck, I'd have no luck at all, I guess... Jebus.

1 comment:

  1. When I had my mammogram/ultrasound done, the doctor said that I should probably get genetic testing done. Then she said that there could be some sort of genetic link "that they just don't have tests for yet." Okay, great, so let's just all assume that we're gonna get cancer! Yay!

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