What Genes Can’t Tell Us I Underwent Genetic Testing to Help My Son, and Discovered I Have an Increased Risk of Breast Cancer
What if my son, the boy who has puzzled everyone, has helped to save my life?
This is What Genes Can’t Tell Us, a monthly column by Taylor Harris on parenting, genetics, and the quest for answers to medical riddles.
I learned early on not to ask “What if?” When I was fifteen, my parents drove me to the north side of Columbus, Ohio, past a furniture store and a funeral home, to the office of a kind, white-haired woman who warned that stringing together what-if questions would always lead me into panic. My latest round of questions had centered on anaphylactic shock. What if I have an allergic reaction while flying over the Atlantic and my throat closes up on the plane? (I had no allergies at the time.)
The thought struck me, of course, mid-flight to Spain, as I watched the plane track far too slowly over the blue waters shown on a screen above. My best friend, Lindsay, also in ninth grade, sat next to me on our school’s spring break trip and bore the brunt of my panic that night. I didn’t say much—what were the words for quietly losing your mind as people around you lived on without a care? I put my head in her lap, closed my eyes, and tried to hurry the plane across the ocean. But the panic didn’t stop when we landed—it followed me to Toledo and Madrid; to stuffy hotel rooms and lunch buffets of paella; and back to the halls of my high school when we returned to Columbus.
When your straight-A, type-A, rule-following kid dreads going to school, you know something’s wrong. The white-haired woman was the first to diagnose me. This panic had a name and, for now, a place in my life. She didn’t promise that we’d get rid of it, but she taught me to pay attention to my thoughts and my body. Running down the what-if trail was an absolute no-no; I would crash into breathlessness every time.
I wish I had shared all of this with Lindsay. We might have drifted apart anyway, because people change, and we were young, and I felt claustrophobic as a black girl in a very white town. But the panic pulled me in as it pushed others out, and I didn’t have the guts or the words to say, “I’m having a hard time.” After high school, we went off to different colleges, but I always felt a sensitivity toward the girl with whom I’d spent two formative years watching No Doubt videos, cooking pasta with Prego sauce, and exchanging letters all summer while she was away at camp. Even after college, I even kept up with her life from afar.
At twenty-three, Lindsay became the youngest woman in America at that time to undergo prophylactic double mastectomy. After learning through genetic testing that she had inherited a mutation on her BRCA1 gene, she chose surgery to decrease her risk of developing breast cancer from up to 87 percent to under 5 percent. Long before Angelina Jolie wrote her New York Times op-ed , Lindsay was the face of the BRCA mutation for me. In 2007, she started Bright Pink, a non-profit organization that educates young women about early detection and prevention of breast and ovarian cancers. A few months after my first daughter was born, I wrote Lindsay a note to apologize for pushing her away in high school. I told her I admired her work, and joked that maybe I’d write a profile on her one day. She wrote back. The past was water under the bridge.
My propensity for spiraling down into a sea of what-ifs has never gone away. But after years of prayer, therapy, and medication, I know how to read my body and my thoughts a little better than I did at fifteen. I don’t always lose my mental footing when faced with uncertainty. Have I sometimes over-Googled symptoms while awaiting lab results for my son Tophs? Yes. But what’s more striking to me are the moments when I was calm, or when I didn’t expect the worst, and was knocked off my feet anyway.
On the morning of November 30, 2015, I held a pregnancy test in my hand, waiting and scolding myself for wasting ten dollars at Target. The chances were so slim, and my hands were already so full with my daughter and Tophs, and—the faintest pink second line didn’t care about any of that. It stretched across the test’s window, and I knew I was pregnant with our third child.
My hands were full, as men who held doors open liked to remind me, because I had two kids under five, but also because we’d spent the previous year and a half trying to figure out the cause of Tophs’s alarming medical symptoms and puzzling delays. That August, Tophs, my husband Paul, and I had given blood samples that were shipped to a lab for whole exome sequencing, a process by which 20,000 copies of Tophs’s genes would be examined for mutations. The results were due back before Christmas.
When Shelley, Tophs’s genetic counselor, called the Monday after Thanksgiving, I was caught somewhere between the shock of carrying a third child and the reality of needing to buy ice cream sandwiches for my daughter’s birthday the next day. Hearing Shelley’s voice quickened my pulse, because her voice meant results, but also made me feel safe in a way that couldn’t be measured by my heart rate. Shelley was smart and thorough, and if anyone was going to get to the bottom of this, I believed, it would be her.
She opened our conversation with the kinds of results I was used to: The findings were mostly normal, though a few were abnormal; the abnormal ones might not really matter. She reminded me of a term she’d mentioned in her office before Tophs was tested: variant of unknown significance . He did, in fact, have a variant of unknown significance, or a change to one of his genes that may or may not cause disease. Either way, his medical care wouldn’t change unless he developed new symptoms.
“The last result is actually a secondary finding,” Shelley said. “Have you heard of the BRCA mutation?”
I am in ninth grade again on a flight to Spain. Panic bursts through my thoughts and down into the nerves in my fingers, and they start to sweat and tingle, and I look for a way out.
“We found that Tophs has the mutation, and so do you.”
What if it’s too late? What if cancer cells are already hiding in my breasts or ovaries?
“This doesn’t mean you have or will get cancer,” Shelley said, but I was already so far away.
She told me that the cancer risk associated with a BRCA mutation is adult-onset, so Tophs’s preventive care wouldn’t start for years. My daughter, I learned, had a 50/50 chance of having the mutation. As did the baby we’d just conceived.
I told Paul, I told my sisters, and then I told Lindsay. We’d emailed a few times since the note, but we hadn’t talked on the phone since freshman year of high school. Her voice hadn’t changed at all. We might as well have been sitting in the stuffy middle school gym, eating Skittles and watching awkward boys play basketball.
“I know it’s hard to hear right now, but trust me, you’re gonna be okay,” she said.
Those were the words I’d wanted to hear in ninth grade. Back then I had refused to share my anxiety disorder diagnosis with Lindsay or any of my high school friends. As a thirty-two-year-old, though, I leaned into this older Lindsay’s assurance.
She offered me a gift that no one else in my life could: the long view. She could talk statistics, lifetime risks, and best doctors in the region, but she could also tell me about life ten years post surgery in a way that didn’t minimize the weight of my present grief and shock. She also had access to a network of young women all over the country in various stages of considering testing or responding to the results. She made sure I was matched with a woman who could relate to my story.
Most of all, she picked up the phone. I had only known her well for two years, and after seventeen years of distance, she showed up for me.
In genetics, there’s an idea called the two-hit hypothesis. Two days after Shelley called me with results, I sat in her office as she drew the hypothesis out, using circles and parallel lines with small Xs to represent copies of genes and mutations.
The basic idea is that changes to our DNA cause cancer, and because we have two copies of each gene in each cell, a person needs two mutations or “hits” on a gene in order to get cancer. Someone like me, with a BRCA2 mutation, already has one damaged copy of the gene; that only leaves one normal or unchanged copy of the gene. If that copy becomes damaged, too, cancer can develop.
As I’ve gotten some distance from that November 2015 call with Shelley, this hypothesis has also helped me to think about the possibility of not getting cancer. After the initial shock of Tophs’s whole exome results, I moved into a doing phase, in which I scheduled appointments and screenings in the high-risk prevention program at UVA’s medical center. Then I had my third baby, and a BRCA mutation seemed less important than pumping milk and sleeping. As the baby grew, I moved into a troubling Pandora’s box phase, in which I questioned if we’d gone “too far” in having Tophs tested. Had we found out too much information for our own good? Would this mutation have just stayed quiet in my body if we hadn’t bothered to look for it? I pictured someone wagging their finger at me and saying, “See, you should have left well enough alone. Now look what you’ve done.”
Since then, I’ve entered a fifth stage, in which I’ve finally shut the box and flipped the two-hit hypothesis on its head. I’ve started asking a new string of what-ifs, some that I don’t think the white-haired therapist would mind, as in: What if a “hit” could represent something positive? What if two hits or encounters or relationships could make you less likely to face something terrible? What if my teenage friendship with a person who would dedicate her career to helping young women affected by BRCA mutations was its own kind of positive hit?
When I think of the nature of God and examples of grace I’ve experienced in my life, there’s one more question I can’t just ignore: What if Tophs, the boy who has puzzled everyone, has helped to save my life? Or the life of my mother, who also carries the mutation, or the lives of his sisters, who will have the option to be tested as adults?
I tread lightly here, because one of my least favorite sayings is “Everything happens for a reason.” I don’t want to suggest that the reason Lindsay and I became friends was so that she could one day help guide me through one of my toughest moments. But what if Lindsay and I were friends because we liked hanging out and she’s also a much-needed voice of wisdom and encouragement now? Similarly, I don’t want to suggest that Tophs is experiencing symptoms that require genetic testing just so I can benefit. But what if Tophs is Tophs and requires these tests and I gain important knowledge, the chance to be proactive with my own health?
Genetics has this way of forcing me to ask what-if questions that make room. They make room for Tophs and his mysteries; they make room for faith; they make room for what hasn’t yet happened, but could.
My relationships with Lindsay and Tophs, and the circumstances surrounding them, don’t have to fit into the box of “coincidence” or “causality.” To me, they seem more in line with what the apostle Paul describes in the book of Romans as a working together for the good of all things. I can’t possibly understand how God does such a thing, but it also doesn’t seem far-fetched to me, or like a desperate grasp at a silver lining—especially when I think about my son.
Tophs is the child who once took my face in his tiny hands and stared into me in a way that completely stilled me. When my hair is messy and I’m wearing pajamas, he tells me my ponytail is beautiful. Tophs is the boy who grabbed my hand while we were walking on a sidewalk and said, “You’re the best girl in the world that I have ever seen in my life. I love you.” What if God, through Tophs, through medical and developmental mysteries that have sometimes caused pain, has offered us not just a mess of tangled wires and question marks—but knowledge and real, solid hope?