I was 18 when I first heard Baz Luhrmann’s musical version of Mary Schmich’s essay “Wear Sunscreen.” I felt it had a special meaning in relation to my life, but at the time, I couldn’t pinpoint exactly how or why. It simply spoke to me. And, it turns out, the song’s lyrics — “the real troubles in your life are apt to be things that never cross your worried mind, the kind that blindside you at 4 p.m. on some idle Tuesday” ― became all too real for me. My idle Tuesday arrived on Sept. 19, 2018.
Four weeks prior, I met with a genetic counselor to get tested for the BRCA1 gene mutation. Everyone has BRCA genes, which help suppress tumors and repair DNA. However, women who inherit a BRCA mutation have roughly a 75 percent lifetime risk of developing breast cancer and roughly a 50 percent lifetime risk of developing ovarian cancer, often at a very young age. BRCA and genetic testing were things I’ve long been very familiar with. In fact, I already believed I was positive for the BRCA1 gene mutation before my test.
My family has one of the largest documented histories of hereditary breast cancer in the United States dating back to 1863. This includes my mother, who was diagnosed with stage 2 breast cancer at age 32. Because of my family’s extensive history of breast and ovarian cancer, we were part of a research study in the early 1990s that helped lead to the identification of the BRCA1 genetic mutation. My family was able to benefit the genetics community by expressing the most statistically significant occurrence of breast and ovarian cancer, helping to prove the linkage to the BRCA1 mutation. In return, we each received our individual genetic testing results.
I was only 5 years old at the time of the study and wasn’t eligible to receive my results until I turned 18. But I grew up knowing about the mutation and expecting to inherit it. When I was a junior in college, I decided I was ready to get my results.
I sat down with the genetic researcher who was highly regarded for his work in the field, and he told me I had tested positive for the BRCA1 mutation. Because of my family’s history, I wasn’t shocked by the result, but I still couldn’t help but ask him if there was any chance the test was inaccurate. He assured me it wasn’t.
I walked out of the researcher’s office and committed myself to doing whatever it would take to save my life. For me, this meant making the bold decision to have a double prophylactic mastectomy at age 23. I was young, single and breastless. Thankfully, I was fortunate not to have any complications with my surgery. I was not going to let my BRCA1 genetic mutation result disrupt my life. I got married, had three beautiful children and went on living a very blessed life.
I wasn’t out of the woods yet, though. This genetic mutation still threatened my reproductive system. My ovaries increasingly became a ticking time bomb with each passing year. My grandmother died of ovarian cancer in her 40s when she still had six young children at home. I refused to let this be me.
So I prepared myself for a total hysterectomy plus bilateral salpingo-oophorectomy, the complete removal of the ovaries, fallopian tubes and uterus. I was done having babies and was getting close to 35, the recommended age for the surgery for women with the BRCA1 mutation. I saw my sister, Bridget, go through this difficult process in early 2018 and I knew it wasn’t going to be easy. While the surgery is less complex than a mastectomy, the effects of it can be more severe.
Essentially, your primary sources of estrogen and progesterone, two key hormones, are removed. This sends you into immediate menopause. These hormones don’t just affect a person’s sex drive or ability to reproduce. They have an impact of every single type of tissue in your body and affect everything from skin health to cognition and memory. While hormone replacement can help curb the effects of menopause, the transition can be slow and difficult. This major surgery also signifies the end of your childbearing years and the removal of the key organs that, for many women, symbolize femininity.
Knowing this, I was cautious as I began the process. My first stop was meeting with a genetic counselor. My insurance provider needed to see genetic test results that showed I was positive for the genetic mutation before it would pay for the surgery. The results from the research study would not suffice. (Interestingly enough, my breast surgeon did not request new results.) I called the genetic counselor and set up a test that I already knew I would fail.
What I did not expect was the news I received at work four weeks later, on Tuesday, Sept. 19. When the genetic counselor called me, she spoke slowly and said, “Maureen, we need to talk.” My heart sank. She continued, “You’re negative.” I sat in my office and cried uncontrollably. This was my idle Tuesday. This was the curveball I never saw coming.
I wanted to feel grateful to be negative, to not have to endure yet another life-altering surgery, to have my life back. But I just couldn’t get past the fact that my inaccurate test result meant I had been carrying around a devastatingly unnecessary burden for more than a decade.
I immediately drove to Bridget’s house. I sat in her kitchen and cried while apologizing over and over for being negative. She silently hugged me for what seemed like hours. Then she looked me in the eye and said, “Do not be sorry. This is good news. This is the news we always dreamed about hearing.” She was right, but I still couldn’t help feeling guilty that I had somehow escaped the fate that she still lived with.
It suddenly dawned on me that if this affected me so greatly, it would likely affect my parents the same way. They were in China at the time and it was the middle of the night, but they needed to know what I had learned and I needed their support. When I told my mother, who was still half-asleep, she could only utter, “What the hell?” I can’t blame her. The entire situation was so incredibly mind-blowing that there really was no good response.
My husband responded with much more practicality than the rest of us. “Why aren’t you more relieved?” he asked me. “Because I’m in shock!” I responded.
He was right ― I should have been doing cartwheels down the street. So why wasn’t I? Because I was in a daze of disbelief. I couldn’t stop thinking back to 2008 when I looked the researcher in the eye and asked him if there was any possibility that his results were wrong. He told me no, and he was wrong.
Finding out I was BRCA1 negative was even more shocking and overwhelming than finding out I was positive. I was feeling so many emotions ― confusion, sadness, anger, anxiety, depression, relief ― all at once. I wanted to feel grateful to be negative, to not have to endure yet another life-altering surgery, to have my life back. But I just couldn’t get past the fact that my inaccurate test result meant I had been carrying around a devastatingly unnecessary burden for more than a decade.
And I made major decisions — like having a double mastectomy ― based on a false positive. I was robbed of the chance to breastfeed my babies, and it broke my heart.
Moreover, I felt conflicted: I had lived my life as a previvor and I wore that identity like a fucking badge of honor. My whole life I had felt so proud to tell this story, to be part of this study, to make a difference. And now what? Who was I? What was I? I had so many questions. Was I really BRCA1 negative? Maybe the second test was wrong. Should I do a third test? What about a fourth test? Was my first test a false positive? Did my blood get switched with someone else’s or was it a reporting error?
I needed answers.
The person who was the quickest to return my call was a medical malpractice lawyer. I explained the circumstances, and, like most people who learned about what I was going through, he replied with the utmost compassion and sympathy. Unfortunately, my legal options were nonexistent. The medical malpractice statute of limitation in the state of Nebraska is 10 years, and I had received my results 10 years and three months earlier. I was just 12 weeks too late to take legal action.
In all honesty, I was actually thankful the decision to not take legal action was made for me. It wasn’t a decision I was ready to make. My emotions were too raw. My judgment was too clouded.
My attempt to be heard by the university felt fruitless. Finally, in an act of desperation, I emailed the dean of the school of medicine. Shortly after, I received an email from the school’s risk management department. They told me they were looking into my claim. It felt as though I was a risk to mitigate instead of a human being. This was extremely disheartening, especially because this university was also my alma mater. It wasn’t until four long months later that the university provided me the closure that I both hoped for and dreaded: I was negative for the BRCA1 gene mutation.
Additional testing, funded by the university, showed that there was not a sample mix-up. The DNA they tested in the early 1990s matched my current DNA. In addition, two commercial genetic testing labs verified that they were not able to detect the mutation from a new blood sample.
[Genetic testing has] become so common that people can now test themselves in their own homes and receive their results via email within weeks... But [it] isn’t simple and it can be wrong ― and when it is, it can have traumatic consequences.
While I was eventually able to make peace with my new test results, many questions remain unanswered. I still don’t know why I was given a positive test result all those years ago. The university is currently continuing its investigation into the incident and promises to notify any other individuals who may also be impacted.
Aside from the personal shockwaves this experience sent through my life, it also opened my eyes to the world of genetic testing in ways I had never considered before. It’s become so common that people can now test themselves in their own homes and receive their results via email within weeks. But genetic testing isn’t simple and it can be wrong ― and when it is, it can have traumatic consequences.
If I’ve learned one thing from this experience, it’s to be an advocate for your own health. In retrospect, I blindly trusted this well-known researcher ― and why wouldn’t I? I had no reason not to trust him, his research or the medical community. But, still, there had always been that voice inside of me that wondered, What if he was wrong? So I looked him in the eyes and asked him if he was absolutely sure of his results. I advocated for myself, and he responded in a way that communicated absolute certainty ― but he was wrong.
If I could go back and tell myself one thing, it would be to listen even closer to that voice inside my head until I was as certain of my results as he was.
It’s so important to trust your doctor, but it’s also important to listen to what your intuition is telling you. Doctors can be wrong and so can tests. You know your body better than anyone ― don’t stop seeking answers and opinions until you are satisfied.