In this excerpt from "Nearly Departed," Gila Pfeffer describes getting tested for the BRCA gene mutation and planning for a double mastectomy.
Photo Credit: Sarah Raanan
Eleven years after my mother died in 1994, when I was 31, I learned that a simple blood test could confirm whether I was a carrier of a BRCA gene mutation. Named for the first two letters of "breast" and "cancer," a positive result would place my odds of developing breast cancer at 87%.
As an added bonus, BRCA carriers have a 66% chance of being hit with ovarian cancer. Those sound pretty high until you consider my insanely strong family history of cancer, which cranked my risk up even further. A blood test would be nothing more than a formality, a scientific breakthrough to tell me what I instinctively knew. I would 100% be BRCA-positive.
It was 2005, and genetic testing was far from commonplace. The famous Human Genome Project, an international effort to generate the first complete sequence of the human genome, had only recently achieved its goal by producing a sequence that decoded 92% of human DNA.
There was growing buzz around mainstream genetic testing and although we were still years away from at-home spit tests like 23andMe or Ancestry.com, this development could tell me exactly what my body was up against. After a decade of playing defense, I'd finally have the chance to shift to offense. I could see a path to reversing my family's health trajectory.
Pregnant with my third child and sick of everyone in my family dying too young, my self-preservationist instincts went into overdrive. I already thought about my own mortality way more than your average 30-year-old, but my obsession didn't stop there. I had my younger sisters and baby daughter to worry about, too. Because my sisters were still children when our mother died, the primary impact on them was that it rendered them motherless.
For me, an adult, it was a wake-up call to get ahead of breast cancer. As the family matriarch, I felt a responsibility to take preventive measures not only for my own sake, but to set a good example for my siblings.
Shortly after I learned about genetic testing, my friend Stephanie told me she was scheduled to have a procedure called a prophylactic double mastectomy. That's a lot of syllables that amount to electively removing healthy breast tissue before cancer can take root. It was the first I'd ever heard of it, and my immediate reaction was, "I want that."
Reconstruction is usually done at the same time, unless a woman chooses to "go flat." Unlike the modified radical mastectomy my mother eventually underwent, the prophylactic version leaves the outer skin and sometimes the nipple and areola intact. It would be years before Angelina Jolie would make "prophylactic double mastectomy" a household phrase by writing an opinion piece in "The New York Times" about her choice to have the same procedure.
Stephanie and I met when I moved to Highland Park a few years earlier. Our kids were around the same ages, and we were both stay-at-home moms and active volunteers at school. We also had a family history of breast cancer in common, but her mother, who'd been diagnosed in her 20s, had caught it early and survived. By the time Stephanie told me about her upcoming mastectomy, she had already tested positive for the BRCA1 gene.
I went to visit Stephanie while she was recovering at home. My intention was to fulfill the mitzvah (good deed) of Bikur Cholim (visiting the sick), but it was also a reconnaissance mission. Other than a dental implant, I'd never had surgery and came armed with a million questions. How long was the operation? Had she had any reaction to the anesthesia? How much pain was she in, and where? Did her new boobs look natural? And most important of all, on a scale of one to infinity, how relieved did she feel now that breast cancer was no longer a threat?
I knocked on the door and went inside as I announced myself.
"Hellooooooooo! You have a visitor!" I sang as I walked across the foyer. Her mother greeted me and pointed to the living room.
"How's she doing?" I mouthed while unzipping my coat. She gave me a double thumbs-up, touched her palms together, and looked heavenward.
"Thank God," she said quietly.
"So?" I asked Stephanie as I plopped my pregnant self down on the couch, careful not to disrupt the intricate network of tubing that stuck out of her from all angles. All of my questions rolled into one: So??
"I'm OK! The pain meds are working, and my back is pretty sore, but mostly I feel relieved. I'm telling you, Gi, it's like a weight's been lifted. No more worrying. I'm free!" She beamed, all dimples and shining eyes.
She showed me her post-surgical sites, like a guide preparing a tourist for a hike through rocky terrain. Her chest was wrapped many times over in white gauze, and clear plastic bulbs the size of lemons hung off tubes on either side of her rib cage. They were filled about a third of the way with a viscous, rust-colored liquid.
"Surgical drains," she explained, giving each one a little flick with her fingers. "They collect the extra blood and other fluids to stop them from accumulating in my body. I have to dump the contents a couple times a day and keep track of how much comes out to make sure it's less each time."
She showed me a little notebook with a list of dates and measurements in decreasing amounts. "It's a little gross, but they're only there for a few more days, until they stop filling up with gunk."
"More like a lot gross," I said, recoiling slightly, which got a laugh out of Stephanie. I'd been peed on by my kids and caught their vomit in my bare hands without batting an eye, but medical gore made my insides churn.
Of the several options for reconstruction, she'd chosen silicone implants with an overlay of muscle taken from her upper back to give her "foobs" — fake boobs — a more natural look.
"All I have to do is sit on my couch propped up with these pillows, some physical therapy to regain range of motion in my arms, and I'll be good as new," she reassured me. "Better, even."
During my next prenatal checkup, I asked my doctor to arrange a BRCA test. The OB-GYN practice had started to see an uptick in requests for this type of blood test. She agreed that for me, it was a no-brainer.
"I'll make sure to have the test kit here for your next check-up," she said. "But are you sure you want to do this while you're pregnant?" She was concerned about the psychological toll of potentially finding out I was a carrier at a time when I was already hormonal enough.
My doctor was cautious but never alarmist. It was hard to say how old she was. Her wiry gray hair was always pulled back into a messy ponytail, and she favored socks with Birkenstocks and rimless glasses, which probably added years to her actual age. What mattered to me was that she'd been in the expectant-mother game for a long time.
"Absolutely," I said without reservation. Whatever the test results, I was already plotting my next preventive steps.
"Have you decided what to do if it turns out you're BRCA positive?" she asked, wheeling her little stool over to her desk to make some notes in my chart.
"Either way, I'm getting rid of these," I announced, grabbing a swollen breast in each hand. "No question. I don't want this threat looming over me anymore."
Excerpted from Nearly Departed: Adventures in Loss, Cancer, and Other Inconveniences by Gila Pfeffer. Copyright 2024, Gila Pfeffer. Published by The Experiment.
