Why I Got Tested for the BRCA Gene Mutation

By Kellie Edson

Kellie Edson
Kellie Edson

The lab smelled oddly of stale sweat, and a toddler was crying in the back room, apparently very much NOT enjoying getting his blood drawn.  

I balanced the paperwork and testing kit on my lap, a little bit nervous, but mostly just resolved to take the test and get it over with.  After some confusion and paper complications (they require A LOT of verification), the lab tech took me back.

I’ve been in this lab many, many times – for my routine yearly blood work, extra blood work during pregnancy, and other tests. But this was different than just getting tested for my vitamin D levels or my fasting glucose.  This test would tell me whether I had a significant increased chance at developing breast (and ovarian) cancer.  

After much deliberation with my husband, my psychiatrist, and with myself – I chose to get tested for the BRCA gene.  Everyone, it seems, is touched by breast cancer in one way or another – whether it’s directly family related, or a friend, or acquaintance.  

The exhausted, stern-looking lab tech softened when she realized what test I was getting done. She went on to tell me she had just battled breast cancer herself and that both her sister and mother had it as well. Though their family lineage didn’t include the gene.IMG_1158

I wrote a GOTG post back in April about the Race for the Cure Breast Cancer Race that happens every year, the Sunday after Mother’s Day.

I mentioned in that post that I also had a good friend whose stage four breast cancer had returned.  Well, we lost that friend at the beginning of August.  

When Carol was first diagnosed, I was still a piano teacher for her two boys, and we had many an afternoon conversation centered around breast cancer. Sometimes we’d talk for over an hour and realize that we still hadn’t gotten to piano lessons!

She kept saying she wished she’d known so many things about breast cancer and how it metastasized before she was faced with her diagnosis.  When I told her of my family’s history she encouraged me to get tested.  

I was only nineteen when I started teaching her kids, so thoughts of breast cancer risks, mammograms and prevention weren’t in the forefront of my mind.  I knew of our family history, of course, and I even knew that my first cousin tested positive for the BRCA 1 gene in 2005. But I chose not to think too much about it at that point.

Fast forward to nine years later, I am almost twenty-eight, which was the age that my aunt Joy was diagnosed with breast cancer (she passed away at thirty-one). Her daughter – the one who has the gene – was diagnosed at forty-one with breast cancer.  

While researching over the last few months since Carol passed away, I’ve learned so much about the BRCA genes and the testing requirements.  What I’ve discovered is that the biggest factors that go into whether your insurance will cover this very expensive test are a) the number of close relatives diagnosed with breast cancer, b) age at which they were diagnosed with cancer (under fifty or under forty), and c) if anyone in your family already has tested for the BRCA gene.  And for me, it’s check, check, and check.

Now does this mean I’m going to go all Angelina Jolie  and cut off both of my breasts if I have the gene?  Probably not.  At least not anytime soon.  I want to have more children, and plan to breastfeed.  (Which incidentally lowers your risk of breast cancer – the longer you breastfeed, the lower your risk) However, Jolie’s cancer risk based on her BRCA 1 mutation (87%) is the same as the one in my family, so that did give me a lot of food for thought.  

When Jolie first announced she was having the prophylactic double mastectomy, some people were up in arms because they thought it meant more people were going to run off and try and get these procedures done without increased risks.  Not everyone carries these risks.  Not everyone with the BRCA gene carries as high a risk.

So what would having the gene mean? There are extra preventative screening options and even preventative drugs available now. I would be scanned by mammogram or MRI every six months.  I could take extra steps and precautions to make lifestyle choices to lower my risk.  

It was a little disheartening to see this new alcohol and breast cancer study come out while I was in the midst of my research.  And also, really, I would just KNOW. I wouldn’t be wondering anymore whether I had the gene, whether it was likely that I had the gene and whether that meant my daughter would end up with it.  The other thing is, while having BRCA 1 means your breast cancer risk can go up as high as the same 87% my cousin and Angelina Jolie have by age seventy – (the general population is 8%), it does not mean that every person who carries the gene will get cancer, and it doesn’t mean that because you don’t have the gene that you won’t get cancer. Or that you won’t get it at a younger age.  

Carol was barely fifty when she was diagnosed.  However, having BRCA does preclude you to developing breast cancer at a younger age and we know that the cancer that is developed at a younger age does tend to be more aggressive.  Knowing that I would be screened more often with the potential to catch those more aggressive cancers earlier is encouraging.  

So I did it.

I imagine by the time this article goes live, I’ll have my results.  Either way, I’m glad to know that I am taking an extra step in managing the future of my healthcare and that I will be armed with the knowledge.

October is Breast Cancer Awareness Month – do any of our other Girls on the Grid have experience with this sort of genetic testing?  Please share in the comments!

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