Learning to Live with the PALB2 Mutation: Fumbling Towards Knowledge
In the summer of 2021, things were starting to look up. It was “Hot Vax Summer,” that brief and glorious period before the COVID-19 delta variant emerged. I was sitting at my desk at work, and my mother called. My mother almost never calls me (we are stalwart introverts, preferring text), especially not when I am at work, so I picked up immediately, heart pounding.
“Emma, I think I have breast cancer.”
This was the beginning of a profoundly frightening period in my life. My mother did indeed have breast cancer. Thankfully, she caught it very early on a routine mammogram, and one lumpectomy and round of radiation later, she is healthy and cancer-free. However, soon after her lumpectomy, I received another unexpected phone call from her.
As it turned out, my mother had done some genetic testing. With no history of breast cancer in the family, we did not appear to be at high risk. However, given her own mother’s fatal ovarian cancer diagnosis, her doctor had urged her to do some testing, just in case. The results showed that my mother is positive for a mutation in the PALB2 gene, thereby increasing lifetime risk of breast cancer by up to 63% and ovarian cancer up to 5%, according to the PALB2 Interest Group. As her daughter, I had a 50% of chance of inheriting the gene mutation.
I did not know how to absorb this terrifying new information. I read everything I could on the PALB2 mutation, but very little is out there. While many of us have heard of mutations in the BRCA genes, the PAL2 mutation was only linked to breast cancer in 2007. Moreover, the mutation is extremely rare, thought to affect only 1–2% of the population.
With little knowledge to go on, I decided to meet with a genetic counselor. I wanted to learn more about my options, but I was not sure that I was ready to get tested. I told her that I did not think I would ever want to know for sure. My reasoning was that if I never got tested, I never had to live with the knowledge that I carried the mutation. However, my reasoning continued, I could get the high-risk breast cancer screening surveillance recommended for people who have the mutation, just in case. For a few months, this type of Schrodinger’s cat thought experiment worked for me. As long as I acted as if I carried the PALB2 mutation, there was no reason I had to get tested. The ambiguity felt more comfortable than stark knowledge.
However, my anxiety started to creep into my carefully crafted plan. Wouldn’t it be better to just take a test and find out, I thought? What if I did not have the mutation, and I was putting myself through yearly mammograms and MRIs as if I did? I was also unsure that my health insurance would pay for these tests without proof of being high-risk. So, I spit my ambiguous DNA into a tube.
A few weeks later, my genetic counselor called to tell me that I had the PALB2 mutation.
“Well, that’s it,” I told my wife. “I have to take them off.” It was never a question. I could not live with breasts that were likely to betray me. Now that I had my answer, the only logical next step was a bilateral mastectomy.
Now, five months later, I am nearly two weeks out from my surgery. I think back on how many obstacles I crossed to get here. I survived and even thrived in spite of a depression that nearly became debilitating. I had a mammogram, MRI, and surgery during a time when the healthcare system nearly collapsed from a relentless pandemic. (At one point, my mammogram was cancelled and rescheduled because the entire mammography department was out with COVID-19 infection, and my surgery was delayed a week after my surgeon was out sick, also likely from COVID-19.) Although my wife and I spent our first anniversary a day after I was discharged from the hospital post-surgery, we have grown closer despite (and, perhaps, because of) this experience.
I am still a person with chronic anxiety and depression. I have good days, bad days, and very bad days. But I am lifted by reading stories of endurance, survival, and grit. Like so many others touched by cancer in their families, genetic predispositions, or own bodies, I am fueled by learning about other’s success stories. I am also driven to contribute to science. I cannot wait until the day we know more about the PALB2 mutation, and carriers have more information and medical guidance.
Knowledge really does save lives.
