Beating the Odds :: My Ongoing Journey with BRCA2 Genetic Mutation

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One of my earliest memories is visiting my maternal grandmother in the hospital while she battled breast cancer. She had it not once, but twice, resulting in two separate mastectomy surgeries. I can remember playing with the silicone breast prosthesis as a little girl and not realizing then what an impact her story would have on my own life.

Biopsies

In 2014, my mom was diagnosed with Stage II breast cancer. I was devastated. I was in my twenties, newly-married, and had just moved to another state. She underwent a double mastectomy and began chemotherapy while I was over 700 miles away. Then I kept having that nagging thought, “that lump I found is still there.” Suddenly, a feeling of impending doom swept over me and I vowed to get it checked as soon as possible.

The following morning I called to make an appointment with my OB/GYN who said she could work me in the next day. I left that appointment with 4 black and white images. It wasn’t lost on me that at my age I should be leaving this office with ultrasound images of a baby, not a breast lump that required the attention of a cancer specialist. Ultimately, after multiple doctors visits and tests, I had the first of what would go on to be many biopsies over the next few years. I was told that while that kind of tumor was benign, it was often found alongside cancer and I would need to be monitored closely.

Genetic Testing

Fast forward to 2017. My grandmother had passed away, my mom was in remission, and I had a one year old baby. I decided to have genetic testing done; my results came back as positive for the BRCA2 genetic mutation. At the time, Angelina Jolie was the only person I had heard about that had it. I will never forget looking down at those results with my eyes blurring at the numbers before me. 85%. That was my lifetime risk of getting breast cancer. I don’t know about you, but when there is an 85% chance of rain, I am carrying an umbrella. 

Over the next few months, I met with many specialists and researched everything I could. The consensus was the same no matter where I went. It wasn’t a matter of if this would affect me; it was when. My options were laid out for me. I could have a screening every 6 months, alternating mammograms, MRIs, and ultrasounds; or I could have a preventative double mastectomy. I’ve never been a wait and see kind of girl. I knew I was going to attack this head on. While the BRCA2 diagnoses was devastating, I felt so grateful that I had been given the choice. I could save my life before I had to fight for it. I knew the importance of advocating for women to make empowered decisions for their health, and now I was doing it for myself. 

Making Tough Decisions

After evaluating my risk through my genes and family history, a number was put on it. If I chose to have this surgery, it was best to have it as soon as possible. Having it done by age 35 would be my best chance at beating the odds. I still had a few years before 35 so we decided to have another baby first. (While I would much rather my kids have a living mom over being breastfed, I still wanted the option to breastfeed while my risk was on the lower end of the spectrum.) This took longer than expected due to recurrent pregnancy loss, but we finally had our second child—a boy, my sweet Charlie. 

The date was set for the first week of August 2020 for my preventative double mastectomy. Yet, as things would go, a pandemic happened. I remember talking impatiently with the nurse over the summer because she thought my procedure would be delayed. “I’m sorry but we have to get our cancer patients in first,” she said with such an emphasis on cancer that I replied “well if you wait too long I might be one of them!” With elective surgeries and visitor policies rapidly changing, we decided to try for baby #3 and wait to have the surgery when things stabilize a bit more. That brings us to the present. Now we have my sweet baby Emma Grace and I will be 34 at the end of this year.

The clock is ticking. But my story is far from over. 

 

For more information on breast cancer genetic testing and counseling visit The Susan G. Komen Breast Cancer Foundation.

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