It was October 1994, nine years after my mother’s second successful treatment for breast cancer, when researchers published the discovery of the BRCA1 gene. I was in my first semester of business school. Somehow, the news about this gene and its unusual prevalence among Ashkenazi Jewish women like me broke through the grind of case studies, classes, and study groups to catch my attention. My reaction was that BRCA1 explains why my mother developed breast cancer at 36 - “That must be it.”
Almost 30 years later, I’m much more aware that even among Ashkenazi Jewish women, most breast cancers are NOT BRCA1. One in 500 women in the general population have the BRCA 1 mutation. For Ashkenazi Jewish women, we have a one in 40 probability. But in my 24-year-old mind, regardless of the evidence that my mother was the ONLY woman in our family to develop breast cancer, I was confident that we were a BRCA 1 family. And I did next to nothing about it other than communicate it to every doctor.
My mother’s breast cancer automatically put me in the high-risk screening population regardless of genetic mutations. I knew to do self-exams, and when I was pregnant with my first two children, I chose OB/Gyns partially on their rigor for clinical breast exams since the hormone surge of pregnancy can be a breast cancer trigger. Although testing was offered, I was not interested in prophylactic mastectomies. My memory of my mother’s expanders and multiple reconstruction surgeries was enough to convince me that I would have a bilateral mastectomy if I developed breast cancer, and I wouldn’t do it before that point. Maybe it was fear or practicality - but I was not particularly anxious about my risk, and I didn’t want to endure the risks of surgery for a disease I didn’t have.
My sister’s cancer, when she was 29, and I was newly 33 and 39 weeks pregnant, confirmed my BRCA1 hypothesis. My sister had the BRCA 1 mutation. My mother was then tested and also had the mutation. Mystery explained - except we have no idea where it hid before my mom. My maternal grandmother was an only child and never had breast cancer. My maternal grandfather was one of two, and his brother passed during WWII - and he never had breast cancer. Their parents and their parents’ siblings, my great-grandparents and great aunts/uncles, didn’t have any breast cancer diagnoses or deaths. It’s a genetic mystery.
I still didn’t get tested. My husband and I had two boys and wanted a third child, so I was sure I wouldn’t act on the genetic confirmation. Illogically, I figured I was already older than my mother or sister’s onset, so perhaps I dodged the genetic bullet. In any case, I was disciplined about screening. Every year, I had a mammogram, ultrasound, and bilateral MRI in addition to at least one clinical breast exam and usually more. In fact, my primary care physician (of blessed memory) used to do a breast exam whenever I saw him. One time, I was having a strange stiffness in my elbow, and he did a breast exam as part of his assessment.
Joelle: Why a breast exam?
Dr. Barry Oberstein: You are never going to visit this office and not get a breast exam. I will not be the doctor that missed it.
Every year, I choose to celebrate my screening exams as “Joelle does not have cancer day.” Unequivocally, it was a great day and a day when I was confident that my genetics weren’t wreaking havoc on a cellular level. That was the mindset I created to mitigate anxiety and rumination by staying present to what I knew on that specific day - that I didn’t have cancer.
Occasionally, there was a shadow on an image that the doctors wanted to biopsy. Twelve (12%) percent of screening imaging results in a biopsy. The vast majority of those biopsies are negative. The frequency of my screening increased the frequency of my biopsies.
False positive results are common. While around 12% of 2D screening mammograms are recalled for more work-up, only 4.4% of those recalls, or 0.5% overall, conclude with a cancer diagnosis.
Biopsies are invasive and uncomfortable. My breasts were dense and sensitive, so even the MRI-guided biopsy was unpleasant. The Core Needle Biopsy was positive torture with a grapefruit-sized bruise on the side of my breast that lasted over a month, and I am a rapid healer! After another negative MRI-guided biopsy, I changed my mind about BRCA 1 testing because if I tested NEGATIVE, I wouldn’t need this level of screening and would have a higher threshold for biopsies. Maybe I could stop using my breasts as pin cushions!
Unfortunately, I did test positive. The doctor must have expected me to be upset about the results. It confirmed a belief I’d held for over a decade. But I felt really sad for my parents that they didn’t have a single child (of two) who didn’t have the gene. My mom still feels guilty about passing the gene on even though I’ve assured her I’d rather exist, have her as my mom, and have the gene than any alternative.
I learned that in addition to my 80% lifetime probability of breast cancer, I also had a 40% lifetime probability of ovarian cancer. Granted, no one in the family ever had ovarian cancer, but before my mom, no one had breast cancer either. Unlike breast cancer, ovarian cancer has no viable screening (yet). The conservative recommendation was that I should have my ovaries and fallopian tubes removed (a salpingo-oophorectomy) as soon as our family was complete and preferably before I was 38. Statistically, not only would my ovarian cancer risk fall below 5%, but my breast cancer risk would be halved to 40%. That’s a very significant reduction.
The downsides of having my ovaries and fallopian tubes removed at 38 are the sudden crash into menopause and a reduction in the years my bones and heart are protected by estrogen. And there’s the obvious outcome that I can no longer have biological children. Following the surgery, I was eligible for hormone replacement therapy as long as it didn’t include estrogen. While I thought early menopause would be uncomfortable, I thought it would be manageable. My weight-bearing exercise and cardio would compensate for the bone density and heart risk. The surgery is done laparoscopically and outpatient without many serious risks. As for having more kids, I was significantly more tired and grumpy during my third pregnancy compared to the first two because I had two other kids, an executive job, and I was 37 years old. Our family was complete and I saw the contraceptive aspect of the surgery as a benefit.
One of the lessons of my mother, sister, and grandmother’s cancer curveballs (Grandma didn’t have breast cancer, and unfortunately, her second cancer was terminal) was to find a surgeon who specializes in the precise procedure I needed. This recommendation assumes a level of financial and healthcare flexibility that isn’t available to everyone - but I was lucky to live in a very robust healthcare market in Northern California and found a gynecological oncology surgeon who was happy to take my case. He asked if I would permit my OB/GYN to scrub in, and I also welcomed her expertise. OB/Gyns can absolutely do Salpingo-oophorectomies and are excellent. The memory of my grandmother’s unsuccessful cancer treatment drove me toward a specialist. Ultimately, I scheduled the surgery for 8 months after my daughter was born - right around my 38th birthday. My parents were planning to visit California and could take our sons to the mountains for some fun. My husband, daughter, and I could join them there after my surgery, where I could recover on the couch, and Mom would handle feeding the troops. Everything fell into place nicely.
Leading up to the surgery, I wondered how I would feel “on the other side.” Would I feel sexual? Would I have hot flashes and sleepless nights? Would I feel like me?Would I have a sex drive? Would sex be any different? Would I struggle with weight gain? No one can tell you how your body will respond to the removal of those organs OR to hormone replacement therapy. It seems there is very little research on how women experience menopause even though we spend half our lives in menopause. I knew that the possibility of a late-stage diagnosis of ovarian cancer was something I didn’t want to consider and assessed that whatever was on the other side, we’d figure it out. For the curious, the answers to my questions are yes, not really, yes, yes, sometimes, yes.
In the years past, I haven’t regretted my decision. I’ve spoken with numerous other women considering the same surgery for similar reasons and share that my laparoscopic, bilateral Salpingo-oophorectomy was possibly the biggest non-event of my healthcare resume. My wisdom teeth being removed was more uncomfortable than this surgery. The surgery was quick; my belly was moderately bloated for a few days, with the feeling of having been punched. This was the ultimate mini-pitch, as the odds of my prophylactic surgery being malignant were very low.
When I met with my surgeon for the 4 weeks follow-up, he said to me: “I rarely get to say this, and I hope you don’t mind, but you don’t have cancer, and I hope I never see you again…except cheering on the soccer field.”
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