Genetics—it’s a field I had not thought much about prior to my breast cancer diagnosis. I learned the basics in biology class, but that was the extent of it. In hindsight, I wish I had been more curious about my genetic makeup; about the intricate complexity of my DNA. A malignancy alters everything.
After my diagnosis in September 2014, I was inundated with all things medical. I felt like a science project. Almost immediately, I was tested to determine whether I was BRCA positive. I had heard of the BRCA gene; however, my understanding was extremely limited. I wish I had a dollar for how many times I heard, “Angelina Jolie was BRCA positive.” The actual test took minutes, but waiting for results felt like an eternity. I was reeling from the reality of cancer. This was just something else to stir my confusion and anxiety.
About three weeks later, I received a call confirming that I was BRCA negative. Negative? Ok. My results were negative. What does that really mean? At the time, all I knew was that I did not have to confront and process the idea of a hysterectomy immediately following chemo. Now, I understand these results are indicative of so much more. Given that I was 36 at the time of diagnosis, I assumed that I would test positive for BRCA. Since that wasn’t the case, I had absolutely no clue as to what caused my cells to go haywire. This truth was unbelievably disconcerting.
While I was undergoing treatment, I had no energy or desire to contemplate the origin of my cancer. Also, I knew that too much thought about it would only be futile. However, after completing treatment, my mind did wander. Did I get cancer because I love chocolate? Did I drink too many cokes in law school? What about the environment? I knew I did not exercise enough, but I was not idle either.
Not only was I faced with my own minefield of questions, but well-meaning people often interjected their ideas on the subject. I realize now that often opinions are given because people don’t know what to say or how to approach a person with cancer (or any other life-threatening illness for that matter). We want to make sense of chaos. We need everything to fit neatly in a box. So, arrays of opinions are offered in an attempt to create a plan and get back to normal. The thing is cancer laughs at normal. It antagonizes normal. After cancer, nothing is the same. I am learning to accept uncertainty and move forward even in darkness. God gives us just enough light to keep putting one foot in front of another.
In 2015, staff at UMMC told me that I may benefit from additional genetic testing. The thought of more testing made my skin crawl. No, I’ve had enough! I’m done. Please no more. I needed a sabbatical from it all. In the fall of 2016, additional genetic testing was offered to me again. I spoke with Dr. Maher. I thought about my daughter. It was time.
In January 2017, I learned that I have a CHEK2 gene mutation. This gene was foreign to me. Nobody spoke about it on the news or in survivor circles. Yet, I learned that it increased my risk of developing breast cancer by 50% and is commonly found in people with European ancestry. I wish I had known about this mutation years ago. I would have begun screening for cancer at a much younger age. Maybe I would have caught my tumor(s) earlier? I will never know. What I do know is that my results benefit my daughter. She now has the gift of knowledge. What do you know about genetic testing? Have you any reason to consider it? Be your own advocate. Learn as much as possible about your health and genetic makeup. It can’t hurt.
- Sara Roberts, Young Breast Cancer Survivor