Caught in a Catch-22

The Benefit and Downside of Finding a Genetic Reason for His Breast Cancer

“My proposal is that we offer population screening for unambiguously damaging mutations in these genes to all women at about age 30. In other words, we move beyond testing only women in severely affected families to testing women regardless of family history of breast or ovarian cancer—who can then undertake preventive action if they learn they carry a ­mutation.” – Dr. Mary-Claire King, geneticist and discoverer of BRCA1, the first gene for a hereditary form of breast cancer.

“Has he been tested for BRCA2?” she asked in a whisper.  I was not prepared to speak in depth about my husband’s breast cancer diagnosis. My soul felt raw from the grief and the tears came easily and without warning.

She was a gynecologic cancer specialist in my department, and she asked this from a place of caring. She knew – as well as I – that male breast cancer often occurred in men who had inherited a mutation in a gene called BRCA2. My husband had a high likelihood of having inherited this mutated gene, which can cause breast and ovarian cancer in women. My colleague had taken care of women with ovarian cancer for decades, many of whom may have had a BRCA2 mutation.  

“Not yet,” I said trying to suppress the tears. I didn’t want to discuss the topic anymore and show how shattered I truly was. But projecting strength was not something that I had capacity for. I only had the grief, which pulled me down to the bottom of its deep, black lake far too often.

Thoughts of what this mutation could mean for our daughters, ages 10 and 11, gave me chest pain.  If my husband carried a BRCA2 mutation, each daughter would have a 50% chance of inheriting the gene. If they inherited the mutated gene, their lifetime risk for breast and ovarian cancer would skyrocket. It didn’t end there. They would also be at higher risk for melanoma and pancreatic cancer.

The word ‘precious’ couldn’t begin to describe what they meant to me. They were in the 4^th and 6^th grades. Young enough to believe in Santa Claus, but old enough to start recognizing that a bigger world existed around them. They loved school, Girl Scouts, and above almost everything else -- the family dog. The dog was a yellow Labrador Retriever, which received their love patiently even while being dressed up in Halloween outfits. 

If my husband had this mutation, we would keep it a secret from the girls until they were old enough to understand and decide if they wanted to be tested. At least this was my thinking. I hadn’t broached the topic with my husband yet. We were both in emotional overload and there was no room for a topic this big.

“You absolutely need to get your husband tested. You must think about your girls, Kristina,” my colleague said, staring deeply into my wet eyes.

It was all I could do to prevent a stream of venomous thoughts racing through my brain from leaving my mouth. Don’t you think I know this? Don’t you think I have thought about this every waking hour since his diagnosis? Can’t you see the fear on my face? Please, stop. I can barely breathe. But no words came out of my mouth. I simply returned her gaze.

Sometimes my grief left me mute.  And sometimes, I exploded. The line between these two reactions was so thin, I was never sure which reaction would prevail. My physician colleagues didn’t realize the impact of their questions on my mental health. They were used to speaking about the details of medical cases all day long. To them, my husband was another case. But to me, he was my whole world.

“His genetics appointment is scheduled in a few weeks,” I said trying to find composure with tears beginning to find their way into my eyes.

“There is a silver lining. If he tests positive, he would be a candidate for a PARP inhibitor, which will help his survival…but then your girls might have inherited the gene,” she stated in a serious tone. “If he tests negative, this is better for your girls, but then he won’t be a candidate for a PARP.”

I hadn’t considered this possibility. The outcome of the test would either be good for him, but bad for the girls – or bad for him, but good for the girls.

A medical catch-22 that pitted my husband’s health against that of my daughter’s. The swear words swirled around in my brain.

A higher lifetime risk of breast and ovarian cancer if the girls carried a BRCA2 mutation would mean that they would need to start a family as early in life as possible (with the right partner) or save their eggs. And by 30 years old, it would be time to remove their ovaries to prevent ovarian cancer. Removal of both breasts would be recommended at some point.

These were big implications for their fertility and health at a point in their childhood when they were still watching cartoons.

I didn’t want to think about any of it. Period. But the implications for the girls’ health were too great.

Grief hung heavy in my chest and my lungs struggled against an invisible weight. I began to feel a familiar air hunger that was a sign of either grief, anxiety or fear. Or maybe all the emotions together. The last time I took a deep breath was the moment before he told me that he had cancer.

Yes, he will get tested, I thought. And if he is positive, we will get the girls tested when they are old enough.

The test could save their lives.

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I want to dedicate this chapter to the work of Dr. Mary-Claire King, a geneticist and discoverer of BRCA1, the first gene linked to a hereditary form of breast cancer. She was also instrumental in helping the ACLU get the facts right when they sued to prevent Myriad Genetics from holding a patent on BRCA. If BRCA was patented, the genetic test would become extremely expensive and difficult for patients to access. In 2013, the U.S. Supreme Court ruled that human genes cannot be patented, which paved the way for greater testing of patients at high risk for breast or ovarian cancer. Dr. King has said that she will not be satisfied until genetic screening for BRCA1 and BRCA2 is offered to all young women, regardless of family history of cancer.

She is a hero.