Saturday, May 30, 2015

BRCA Testing - Part 1

I had my consult a few weeks back with the geneticist. It was super interesting, at least to me. We went over my family tree and she said although there is no real obvious evidence of a BRCA mutation, I also have a very small family with not a lot of ladies, which makes it harder to definitely rule something like that out. She also said that getting breast cancer anytime before 35 is a HUGE RED FLAG in geneticist land. So they've opted to test my blood.

The first stage is looking for the BRCA I or II mutation. If I don't have that, they will ask the Government of Ontario for special permission to have my blood sent to the US, where they will test it for all of the other genetic mutations they know about (but know much less about).

If I am positive for any BRCA mutation, then one of my parents will have to be tested, so we know which line of the family carries the mutation (and who I can hold responsible for this!) and anyone affected on that line will have the choice to be tested. I find it fascinating to know all the stuff we've managed to learn about the human body and the immense amount of stuff we still don't know.

If I am positive, they said I can still keep my boobs. That one is up to me. I think I will likely lop them off if I am, but we'll cross that bridge when we get to it. Removing the boobs means a significant drop in annual testing. If I keep them, it's mammograms every 6 months and yearly breast MRIs. Testing times are stressful, so it would be nice to avoid them. If I am positive, they also strongly recommend going the way of the Jolie and tossing out those pesky ovaries. I can apparently wait until my 40s to do that but I have questions about that, mostly because I'm not so secure in waiting when my breast cancer decided to show up well before anyone is even thinking it's a possibility. Could my ovaries pull that same crap?

I can see how this would be scary if you hadn't already had cancer. The stats for the likelihood of getting breast and/or ovarian cancer if you have these genes are staggering. Perhaps as high as 85% for breast cancer and 60% for ovarian. Scary stuff! Having already had one of these diseases I'm less worried. Though she did explain the mutation, and the mechanism by which it makes your odds of getting cancer higher, and that part was still scary - even for someone who's already been there. It makes it sounds like your genes are just a ticking time bomb. And the thing about genes is, you're sort of stuck with them.

Anywhoosters (that is a part of my vocabulary now, thanks to a co-worker), now I'm back in the waiting game. Apparently results should be in in about 3 months. But even if they come back negative, there is more testing to be done. So I guess this is just the beginning.