My Genetic Test Results Were Wrong

February 19, 2019 by Maureen Boesen
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Maureen Boesen

In this blog, Maureen Boesen discusses her experience in learning her genetic test results were, in fact, wrong about being BRCA positive. This blog originally appeared on a web site, Nipples Optional, where she and her sisters to share their stories about their family’s hereditary cancer risk.

 

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 (at) 4pm on some idle Tuesday.” My idle Tuesday came on Sept. 19, 2018.

Four weeks prior, I met with a genetic counselor to get tested for the BRCA1 gene mutation. Genetic testing was something I was very familiar with so this test was fairly mundane for me. You see, I 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 when I was 5 years old, I was not able to find out my 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 assured me it wasn’t.

I walked out of the researcher’s office and committed myself to doing whatever it took to save my life. For me, this meant making the bold 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, Nov. 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. Thankfully, my surgery and recovery were flawless. I was fortunate to have no complications and go on to not let my BRCA1 gene mutation results disrupt my life (other than a little generalized anxiety and major cancer phobia). I got married, had three beautiful children and lived an incredibly blessed life.

I wasn’t out of the woods yet though. This gene mutation still threatened (my) reproductive system. My ovaries were becoming a ticking time bomb with each passing year. My grandmother died of ovarian cancer in her 40’s with six children at home. I refused to let this be me. So, I prepared myself for a total hysterectomy plus bilateral salpingooophorectomy (BSO), which is the complete removal of my ovaries, fallopian tubes and uterus. I was done having babies and was getting close to the recommended age of surgery, which is 35. I saw my sister 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, all of your reproductive hormones are removed from your body, which sends you into immediate menopause. These hormones don’t just have an effect (on) your sex drive or ability to reproduce. They have an impact of every single type of tissue in your body, ranging from skin health to cognition and memory. According to my sister, “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.” 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 symbolize your femininity.

Knowing this, I thought I should start the process slow. My first stop was with a genetic counselor at the University of Kansas. I knew my insurance provider needed to see genetic test results that showed I was positive. The results from the research study would not suffice. (Interestingly enough, my breast surgeon did not request new results.) 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 she gave me four weeks later on Tuesday, Sept. 19. When Devin called me, she spoke slowly and said, “There is something we need to talk about.” My heart immediately sank. She continued, “You’re negative.” I sat in my office at work and cried uncontrollably. This was my idle Tuesday. This was a curveball I never saw coming.

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 percent probability. I had a 50 percent 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 (of). 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.

The one person who was quick to answer my call was a medical malpractice lawyer. I explained the circumstances and, like most, he replied with the utmost compassion and sympathy. Unfortunately, however, my legal options were non-existent. The medical malpractice statute of limitation in the state of Nebraska is ten years. September 2018 was ten years and three months since I was initially told my results. I was three months too late to take legal action.

In all honestly, I was 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.

In an attempt to be heard by the university 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. I quickly became a risk to mitigate instead of human being. This was extremely disheartening, especially given this university happened to be my alma mater. It wasn’t until four long months later that the university provided the closure I needed. Additional testing, funded by the university, showed that 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.

While I was eventually able to find peace with my new genetic results, 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.

This experience opened my eyes to the world of genetic testing. It has become so commonplace that individuals can now test themselves in their own homes and easily find out the results via email within weeks. But genetic testing is not that simple. And it can be wrong.

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. Doctors can be wrong, and so can tests. Believe your instinct is trying to tell you something. Don’t stop seeking answers and opinions until you are satisfied.

 

Maureen Boesen lives in Kansas City, MO with her husband and three children. She holds a Bachelors in Marketing and Finance from Creighton University and a Master’s in Business Administration from the University of Nebraska, Omaha. Maureen currently works in Marketing for MBB Agency. In her free time, she enjoys cooking and running. She has completed two marathons and is currently training for another this summer. She believes that when women are open and honest about their personal struggles, they can help each other overcome some of life’s most difficult challenges.