Me & BRCA2

This year, I turned 50. I wasn’t dreading it, nor was I excited about it. I was more practical minded than emotional. I spent the previous year challenging myself to get healthier and shed a few extra pounds. I continued running, drank less wine and ate healthy more often than not. I also decided to get a physical and plot out proactive, preventative steps. Step one: Get the shingles vaccine. Step two: Get a colonoscopy. Step three: Push for better testing than a mammogram. 

I wasn’t reassured by the mammograms I’d been getting for the simple reason that I’ve personally known too many women who’ve been diagnosed with breast cancer after receiving false-negative results. In fact, the American Cancer Society states that mammograms miss about 1 in 8 breast cancers. 

At my May physical, I asked my doctor to look over the mammogram I’d had done in February. She thought she spotted dense tissue so I asked her to put in a request for an ultrasound. I got on the schedule in June for an ultrasound at the same place that did my mammogram. While I was at it, I decided to get on their schedule for genetic testing for the same day. You see, I’d received a call right after my February mammogram offering me genetic testing. No explanation was given as to why I might need it. I was taken aback by the offer, but said I’d think it over. I should note that I have no family history of breast or ovarian cancer on either side, though I did not know that at the time.

The day prior to my ultrasound, I get a call inquiring about why I was coming in. My explanation was not immediately accepted but I pressed on nonetheless. At my appointment, I faced more questioning but ultimately was given the ultrasound and the doctor spent a solid hour talking with me, reassuring me that I was all clear. No dense tissue, no cysts, no nodules, blips, or bumps were found. All was well. 

Five weeks later, my genetic testing results were ready for review. I was emailed and urged to first schedule a phone conference with a genetics counselor. But it was a Friday and the first available appointment wasn’t for five more days. I bypassed the recommended steps and opened up the results. Bold and square in the middle of the front page “RESULT: POSITIVE One Pathogenic variant identified in BRCA2” My heart sank immediately because I’d been given a pamphlet listing over 40 different genes that were to be tested. I’d marked two as “not good” based on what the nurse had told me, which I’d heard as “You don’t want these: BRCA1 & BRCA2.” 

I spent the next five days cycling through every emotion imaginable while simultaneously feeling a profound sense of numbness. Google and Facebook groups only intensified my fears.

I definitely felt better after talking to the genetics counselor and was able to better comprehend my situation and options with each subsequent discussion I had with my doctors. I’m still processing everything and developing plans of action. There’s so much to consider in all of this, but thus far these are the two biggest facts that are guiding my decisions:

• Current ovarian cancer screenings are not nearly as advanced as they need to be. Ovarian cancer is usually detected too late – per my doctor, 9 of 10 diagnosis are already at Stage 3. 

• Breast Cancer is “potentially a systemic or whole body disease from the get-go” (see https://www.cbsnews.com/…/olivia-newton-john-breast…/ )

In my final analysis, which is still in draft form, it’s hard not to see this as a blessing. As far as I know, I don’t yet have cancer. Rather, this diagnosis empowers me to get out in front of a monster that has hurt so many in both its infliction and the fear it wields. It appears to flip the script on battling doctors and insurance companies for preventative care that most people don’t have access to. So far, life has been pretty good. I have already made some big decisions and am looking forward to getting past this and seeing what else God has planned for me.