BRAC 1 & 2 Testing

November 14, 2013

in medical


Tomorrow I get my test results for the BRAC 1 and BRAC 2 genetic test. This is somewhat exciting (unless it comes back positive, then it’ll really suck.)

The BRAC is a series of “Genetic tests can check for BRCA1 and BRCA2 mutations in people with a family history of cancer that suggests the possible presence of a harmful mutation in one of these genes.”

Which is creepy and cool at the same time.

Interestingly enough, I did not really qualify for the testing on my genetic history. I was a borderline candidate at best, but because of my own personal history, which includes a prevalence to having funky things grow in my body with no reasonable explanation, they qualified me. The test was simple enough, a quick cheek swab and that’s it! The test took all of 3 minutes. Which isn’t a huge investment for the peace of mind you get in return.

When going through this process I was guided by a genetic counselor. I’m not sure why these guys don’t exist in everyday medical stuff because they really should. My guy Brian is a wealth of knowledge when it comes to how things affect almost every aspect of how your body works. He’s there neutrally, he does not benefit from running tests, or profit from unnecessary surgeries or pharmaceutical sales. He’s just there for me to ask questions to and to provide a voice of reason in a medical world that is all about the money it can make and the bottom line.

Even Brian doesn’t know why my body likes to produce atypia cells and why they like to cling to things and become cancerous. This is more common in the elderly, not so common at 38 (the age I was when all this started.) A strong due diligence to follow up on EVERYTHING is really the only prevention I have. Every lump, bump, fever, wound or icky feelings involves multiple tests and multiple follow ups. A normal pap-smear is usually one appointment and maybe a follow up to get your results. Mine can be 6, 7, 8…. Appointments with all kinds of scrapings, freezings, cultures and blood work just to make sure 1) I have normal cells and 2) if they aren’t normal (and they normally aren’t) that I keep going back until I get clean margins. The same thing happens with any skin cancer. I shouldn’t complain, because it could be much, much worse, but it’s annoying, time consuming and frustrating at times. I just always feel like I am borderline sick and that something is always one step away from gloom and doom. And it’s not like I can just say “fuck it” because what if that’s the one that decides to go ape shit and I end up with catastrophic results because I was being pissy about following up.

That would suck.

So on top of the BRAC series, I volunteered to be a part of a molecular study. I sacrificed my body for science. Well, at least 2 vials of my blood, so they can do continued research. Is it biological? Genetic? Environmental? Who knows, but hopefully one day they can figure out some more stuff. I won’t get any results of this test, at least results with concrete answers, but it’s kinda cool to help out.

So if my BRAC series come back negative I go from a 87% (if the test was positive) chance of getting breast/ovarian cancer to where I was before at 37%. 37% is higher than a normal woman’s chance of 1-5% but it’s a manageable percentage, and I only got that high score because of my numerous biopsies. Had I not had all of those I’d be in the 15%-20% range.

That’s the thing. BRAC 1 & 2 doesn’t even begin to cover the expanse of what breast cancer could be. Genetics play a small part, only about 10 percent of all breast cancer. The other kinds: environment, hormone and random chance, all play a bigger role but are not as easy to hang a percentage on that you WILL get it. BRAC is the only one with measurable results.

So where does that leave me? In the same boat but with a better navigation system. The results will give me and my Doctors a better perspective but not really solid answers. I think that’s a huge common misunderstanding about the test. Just because your positive doesn’t mean you are going to get it and just because your negative doesn’t mean you won’t.

Either way, I feel pretty lucky to have made it this far without too much damage. My scenario could have been so much worse. I’ll hope for the best, but either way I’m glad to have a clearer picture into my body chemistry.

Fingers crossed!

1 Cath November 14, 2013 at 4:38 pm

THANK YOU for being so open about this. One of my besties finished up chemo in Sept for stage 1 ovarian cancer — thanks be to God that she is now in remission and happy and healthy, aside from all of the nasty side effects of chemo — and I now have a colleague due to her age and a long history of biopsies choosing to have a double mastectomy for a stage 0 diagnosis of breast cancer. I have to admit that one of the best days of my life was getting shit faced drunk with this girl with whom I have been friends with for 25 years so we could celebrate her remission. I know, Ms. Pop Tarts, that you have such friends as well. Know my glass is raised to you from Indiana! You, and your family, and everyone else who has come before you, deserve it!

2 Sandi November 26, 2013 at 9:21 am

Catherine- You are welcome. I got lucky and sometimes I feel bad about bitching because others weren’t so lucky. PS: Once you have been shit faced drunk around someone then it bonds you for life!

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