A lot of people say you need to be your own advocate, especially when it comes to medical issues. Maybe it’s because some doctors seem as if they are rushing us out the door before we even have the gown on. Maybe it’s because there’s such an overflow of information available that it seems irresponsible not to do our own research.
Regardless of the reason, it is important, especially when you have a health issue that many doctors are unfamiliar with.
Today, about 940,000 people in the United States carry a BRCA mutation; that’s about 30 percent more than the number of people who will die of a heart attack this year, and about 60 percent more than the number who will be diagnosed with lung cancer this year. Yet, I constantly hear about medical practitioners who don’t understand the implications of a BRCA diagnosis, or worse, know nothing at all about this genetic mutation that is linked with a much higher risk of numerous cancers, most famously breast and ovarian cancer.
When my husband and I moved to a small town in Vermont, it took a while to find a primary-care provider. I had learned of my BRCA+ status many years earlier and had been undergoing bi-annual breast and annual ovary surveillance. When I explained this to my new doctor, she nodded as if she understood; then she asked me how my mom was doing and if she’d had breast cancer.
I said that my mom was fine; I inherited my BRCA mutation from my father (who was also fine). The doctor was shocked; she had no idea that a BRCA mutation can be passed from a father to his children, or that men can have the mutation at all. Because I had no other choice and felt confident enough of my own knowledge about BRCA, I continued to see her. She prescribed the surveillance I needed and received at a local hospital, and that was the extent of our limited relationship during the three years that we lived there.
My second run-in with an uninformed physician could have been far more consequential.
A few months ago, I began experiencing excruciating pain in my left buttock that radiated down the back of my thigh, the side of my calf, into my ankle, over the top of my foot, and down into my middle toes. It makes it nearly impossible to raise or lower myself into a sitting position without wincing, and I spend most of the day eating Advil like M&Ms and kneading my fist into my own thigh.
After an MRI of my pelvis and an SI injection that didn’t relieve the pain, I was referred to a clinic where I met a specialist in musculoskeletal pain and regenerative medicine. He prescribed another MRI, this one of my lumbar spine. The results were reported to the online portal for the hospital system, so I was able to see the results (and begin googling all of the phrases within) before I saw him for my next appointment. One phrase, in particular, stood out to me: “minor bone marrow heterogeneity.”
When breast cancer metastasizes, it’s most likely to go to the brain, the bones, the lungs, and the liver (BBLL). Almost three years ago, my mother-in-law called us to say her breast cancer had returned. She had gone to the emergency room with excruciating back pain, and they’d found breast cancer in her bones. She died less than six months later.
I spent several hours researching “bone marrow heterogeneity” online, learning that it’s fairly normal for people my age, especially in the lumbar region – it’s usually meaningless. And, although I could find no information that linked BRCA with bone marrow heterogeneity, it still nagged at me. Eventually, I came across a research article that stated: “heterogeneous bone marrow signal on MRI was not inconsequential and should prompt further evaluation” – or, if you see this on your MRI, you should ask about it. So I did.
My physicians offered to conduct a bone scan if I wanted. Of course, I didn’t want one; the idea of being injected with nuclear dye and being scanned for an hour for cancer did not appeal to me. But I had to have it; even after a year of surgeries in an attempt to remove as many potential cancer cells as possible in my breasts and ovaries, I’ve always known that it only takes one lone cell – the one lone cell the doctors did not scrape from the tissue that remains – to float off on its own and metastasize somewhere. I scheduled the bone scan for the first date available.
“I’m so confident it’s nothing,” the pain doctor said. “There’s a 99 percent chance it’s nothing. If you hadn’t mentioned it, I wouldn’t have brought it up.” He went on to describe the epidural injection that, he hoped, would relieve my back pain.
I wanted to scream at my doctor, “I have a BRCA mutation. It’s right there – on my chart. I had DCIS! [Ductal carcinoma in situ is a breast cancer in which atypical cells are confined to the milk duct lining.] And my mother-in-law… her third recurrence of BRCA+ breast cancer was found in her spine. And didn’t you read that article?” I wanted to yell all of these things, but I didn’t.
I had the bone scan a few days later. Within hours of its completion, my PCP emailed to let me know the results were normal – everything was fine. But was it really, I wondered? How many of those breast cells are still in my body, and will one of them eventually find its way to a place where it will surely wreak havoc? And am I, a person with no medical degree, no education in cancer, really the best person to be looking out for them?
As it turns out, yes, I most certainly am.
Bryna Siegel Finer tested positive for the BRCA2 mutation at age 26 and, after seven years of screenings, a mammogram discovered DCIS in her right breast. She teaches writing at Indiana University of Pennsylvania and lives in Pittsburgh with her husband, who is BRCA1 positive, and their son. She is a peer support group co-leader for FORCE Pittsburgh and can be reached at firstname.lastname@example.org.