My Genetic Test Results Were Wrong.
I was 18 when I first heard Baz Luhrmann’s rendition of “Wear Sunscreen.” I knew it had meaning in my life but couldn’t pinpoint exactly how or why. It simply spoke to me. And, it turns out, Baz was right – “the real troubles in your life are apt to be things that never cross your worried mind, the things that blindside you 4pm on some idle Tuesday.” My idle Tuesday came on September 19, 2018.
Four weeks prior, I met with a genetic counselor to get tested for the BRCA1 gene mutation. I already knew I was positive for the BRCA1 gene mutation. I had known since I was 21 and, intrinsically, since before the gene was even identified. Why? My family had one of the largest histories of hereditary breast cancer in the United States dating back to 1863. We knew that my great-great-great-great grandparents brought the BRCA1 gene mutation with them on the boat over from Poland in the late 1800’s. Because of my family’s history with both breast and ovarian cancer, we were part of a research study in the early 1990’s to help identify the BRCA1 gene mutation. Prior to then, it was not well-known that cancer was genetic. When studying my family’s DNA, among other families, we showed the strongest statistical significance of both breast and ovarian cancer. This was a breakthrough in cancer research. My family was able to benefit the genetics community and, in return, we received our individual genetic results.
In 2008, I was a junior in college and decide then was a good time to find out my genetic results. Although my blood sample was given in the early 1990’s when I was 5 years old, I was not able to find out my genetic results until I was 18. I waited until I was 21 for various reasons. Primarily because there were not many preventative measures I would have taken at the age of 18 and surveillance is not recommended until 10 years prior to your immediate family member’s diagnosis of breast/ovarian cancer. For me, that would have been 22 since my mother was diagnosed at the age of 32. I made an appointment for June 8 and looked forward to the meeting with trepidation.
The meeting was not what I imagined. I sat at a long table with my parents and my sister, Bridget, who we knew was BRCA1 positive. We already knew my oldest sister, Kathryn, was negative. We also knew my brother, Paul, was positive. We sat down to find out the fate of the fourth born. The genetic researcher, who was highly regarded for his work in the field, spoke with us for what seemed like ages then finally told me I tested positive for the BRCA1 mutation. This wasn’t shocking to me; yet, I couldn’t help but question the results. I asked him if there was any chance the test was inaccurate. He said no.
So, I made the life changing, body altering, irreversible decision to have a double prophylactic mastectomy at the age of 23. In retrospect, I should have been skeptical that my mastectomy was on Friday, November 13. As the nurse wheeled me back to surgery, she asked me if I was superstitious. I told her I wasn’t superstitious, but I was a little-stitious and then the anesthesia kicked in. To this day, despite all that has happened since, I don’t regret that decision. I felt optimistic, empowered, and most of all, hopeful. I was not going to let my BRCA1 gene mutation results disrupt my life (other than a little generalized anxiety and major cancer phobia). I went on to get married and have three beautiful children.
Unfortunately, the BRCA1 gene mutation also threatened my reproductive system. In addition to breast cancer, BRCA1 gives women a 60%+ risk of developing ovarian cancer. They silent killer, they call it. My grandmother died in her 40’s of ovarian cancer with six young children at home. I wouldn’t let that be me. So, I decided to have my ovaries, fallopian tubes and uterus removed. This surgery, a total hysterectomy plus bilateral salpingooophorectomy, is not an easy one. While the surgery is less apparent and complex than a mastectomy, the effects of are often more severe.
My sister, Bridget, had recently undergone this surgery. According to her, “the sudden loss in hormones left me biologically unrecognizable. Losing my hormones left me unable to sleep, sad, achy, fatigued, irritable, depressed, forgetful and anxious.” This was not something I looked forward to. I knew hormone replacement would help curb the effects of menopause, but it wasn’t a cure all. More importantly, this surgery meant the end of my childbearing years. I was only 32. Was I ready to be done having children? The recommended age for this surgery was 35 but my risk increased with each passing year. So, I decided to at least start the conversation with a gynecologic oncologist.
Thankfully, the institution where my OB/GYN ONC practiced recommended I get re-tested. My insurance provider needed to see genetic test results that showed I was positive. The results from the research study would not suffice. So, I called my genetic counselor and set up a test that I already knew I would fail.
What I did not expect was the news my genetic counselor gave me four weeks later on Tuesday, September 19. She said, “You’re negative.” I dropped the phone and cried uncontrollably.
Finding out I was BRCA1 negative was more shocking, confusing, and overwhelming than finding out I was positive. Why was that? I suppose I had prepared my whole life to be positive. I was prepared for that news. I was not prepared for this news.
I felt guilty for not feeling relief or excitement. Would that come with time? I should have been doing cartwheels down the street. Why was I not doing cartwheels down the street? I was in shock. That’s why. The most shocked I’ve been in my life prior to that day was when I found out my daughter, Susie, was a girl. And with that there was a 50% probability. I had a 50% chance of inheriting the BRCA1 gene mutation. But with this, I was told there was no chance my initial results were wrong. In fact, in 2008, 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.
The week after I found out, I was feeling every emotion yet nothing all at once.
Grateful. I suppose that’s how I should have felt. But was I? I was grateful when l knew I was BRCA1 positive because, like my mom always says, knowledge is power. But I wasn’t BRCA1 positive anymore. I was grateful that my mastectomy went well. I was grateful for a supportive husband. I was grateful for my two boys who are healthy enough to run around the house like maniacs and my sweet baby girl who lays in my arms as I write this. I was grateful my baby girl wouldn’t inherit this gene. I didn’t learn until I had children that our lives are meaningless compared to theirs. To have the BRCA1 gene mutation is one thing, but to pass it on to the love of my life, my sweet baby girl, is another. I always knew that the risk of passing this mutation on to a child existed but the reality was much more difficult after I met these sweet miracles. It felt more like guilt than simple genetics. But, alas, my sweet Susie and two crazy boys would not have to carry this burden and, for that, I was grateful.
However, I wasn’t grateful that I didn’t get to breast feed my babies. I have felt my babies kick inside of me. I have felt the indescribable pain of a contraction. But I will never feel myself nourishing my babies. My inaccurate test results took that away from me. For that, I am very, very sad.
Conflicted. I had lived my life as a previvor; I wore it like a fucking badge of honor. And then what!? Who was I? What was I? My whole life I had felt so proud to tell this story, to be part of this study, to make a difference. Not only was that study wrong, but I could no longer call myself a previvor. That title was stolen from me in an instant. Moreover, as a daughter and a sister, my previvor title and BRCA status connected me to my family. It was our cross to bear together. We were a club, albeit a club I would not choose to be part of, but a club nonetheless. I have stood in locked arms with my siblings and parents since I first found out I was positive. We fought this fight together. Now what was my purpose?
Overwhelmed. What now? Where did I go from there? There were so many questions and yet no answers. It was excruciating. Living in the unknown is painful. Time stands stills. You can’t move forward, only look back. Why did this happen? How did this happen? Was I really negative? Maybe the second test was wrong. What about the third test? Should I do a fourth test? Was my first test a false positive? Did my blood get switched with someone else’s in the study? Did multiple people’s samples get mixed up? Or was it simply a reporting error?
Confused. Sad. Relieved. Depressed. Anxious. The emotions were endless. I desperately wanted to curl up in a ball in bed and cry. But I had a full time job and three small children to take care for. And, moreover, I needed answers. And so the journey for those answers began. One unanswered email at a time. Unanswered emails turned into unanswered phone calls.
In an attempt to be heard by the institution where the research was conducted, I emailed the Dean of the School of Medicine. Shortly after, I received an email from the risk management department. They were looking into it, they told me. It wasn’t until four long months later that the university provided the closure I needed. Additional testing, funded by the university, showed that the there was not a sample mix up. The DNA they tested in the early 1990’s matched my current DNA. In addition, two commercial genetic testing labs verified that they were not able to detect the mutation in a new blood sample. Alas, some answers. I was negative for the BRCA1 gene mutation.
Eventually, I was able to find peace with my new genetic results. I was able to feel the relief that I longed for initially. My daughter would not have to face this mutation, and for that I was thankful. However, many questions still remain unanswered. The university continues their investigation into the incident and promises to notify any other individuals who may also be impacted.
If I have learned one thing from this it is to be an advocate for your 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 and the medical community. But, there had been that voice inside of me that said, “What if…what if he was wrong?” So I asked him. I looked him in the eyes and asked him if he could be wrong. I advocated for myself. And he answered me 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 to that voice inside my head.
It is so important to trust your doctor, but also trust your intuition. Don’t be intimidated when a doctor tells you that your intuition is wrong. Don’t let them make you feel crazy. You are power. You know your body better than anyone.