BRCA2 Gene, Your Stories

The Results

Six weeks ago I walked into an examination room in Woman College Hospital, my heart was pounding and my mind was racing.

“Tell me, what do you know about your family history? What do you know about BRCA 2? ”. I’ve been waiting approximately fourteen years for this question; I’ve been well versed in my answer since choosing to get tested and when Sonya, my genetic councillor asked, the words rolled off my tongue like memorized poetry.

These are the facts I knew: BRCA 2 is a tumour causing genetic mutation, which in my particular family, is triggered by estrogen. It is also linked to ovarian cancer, and has a common metastasis pattern to the brain and bones of body. My mother has five sisters. My Mom, four of her sisters and two of their daughters have tested positive for the gene. Out of these six, five developed breast cancer (the majority in their thirties), and one had opted to undergo a prophylaxis double mastectomy and hysterectomy. I’m the next oldest woman in my family to be a candidate for testing.  BRCA, like any genetic predisposition, has 50/50 odds to be passed from parent to baby (we all inherit half our genes from Mom and half our genes from Dad), but in my family so far the odds are 6/7, approximately 86%.

Not to blow my own whistle, but Sonya seemed impressed; she added a few details of her own that I was surprised to hear, there is an increased risk of skin and liver cancer, and in men higher odds for prostate cancer. She told me that, because I’m in my twenties, if I were to test positive for BRCA my odds of developing breast cancer are 80% and that the percentage is reduced every decade until 60, when Breast cancer is no longer considered to be caused by genetics.  Sonya introduced me to Dr. Narod, one of the seven accredited physicians for the discovery of the gene. He told me if I tested positive I would have the choice of a prophylaxis double mastectomy with or without reconstructive surgery, or that I would be put into high- risk screening which includes a mammogram every six months with an extensive manual breast exam and ultrasound. Sonya smiled sweetly as she reassured me that no matter my family pattern, the chances are still 50/50 and asked if I was still on board with having my blood drawn for testing. Like a ready soldier, I nodded, shook her hand and left the room. The next time I’d see Sonya would be get the results.

That solo drive home was an emotional roller-coaster, but I picked a few positives to focus on. Every birthday would mean that I was a percentage closer to NOT developing breast cancer, which means I had THAT much more to celebrate and I could devote time to help motivate other carriers in being positive and know they weren’t alone. My mind dialogue wasn’t all rainbows though; I couldn’t help but feel an overwhelming sense of guilt when thinking I could possibly have given my daughter, Austynn, our “family curse”. Tears were filling my eyes, and I could feel my heart sink, when I stopped and put some facts into perspective. My relationship with breast cancer has transformed me for the better, made me stronger and sparked a passion in me for health and wellness, and for this I’d never “blame” my mother, but rather thank her. (Thank you Mom, I wouldn’t change a thing).

After sharing my experience in a previous post six weeks ago, I’ve had the opportunity to hear from many others who are traveling down the same path, weighing their options and considering testing. I’d like them to know that the support available is immeasurable and that treatment options aren’t something to be afraid of. Early detection has saved lives in my family, and the elite pink army of breast cancer survivors and fighter is ready to welcome any new members with open arms and warm hearts. You are not alone. The past six weeks have been wonderful, and I’m so happy I took a leap into the unknown and had the wonderful opportunity to share my experience. To the many who have reached out in support- Thank you.

Last night I dreamt that I met with Sonya, she silently handed me a folded paper with the word “Negative” written in ink. Today, December 14 2015, I met with Sonya. She didn’t hand me a folded paper; she greeted me with that same warm smile and brought me into her office. Chuck and I sat and she calmly explained she’d “…Tell me the results and we’d talk about what happens next.” After she broke the news, she handed me the printed blue lab results where the word “NEGATIVE” appeared in bold.  “What happens next”, she explained, “… is you can stop worrying about your daughter”. Tears filled my eyes, I hugged Sonya, and left her office for the final time hand in hand with my partner Chuck.What happens next, I thought, is that I can share my story about beating the odds.

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