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BRCA1: Discovery, Decision Making, and a Silver Lining

My Journey from Genetic Testing through Mastectomy and Reconstruction

            When I opened my genetic ancestry report last spring, I was shocked to read: “Elizabeth, you have a greatly increased riskof developing breast and ovarian cancer.” And yes, 23&Me bolded out the warning to signal that the BRCA1 mutation I carry demands serious attention. 

            Scrolling further, I delved into the embedded report that identified the specific variant (185delAG) in my BRCA1 mutation. I read on and learned that “greatly increased risk” means that my DNA, which had thus far provided me with 72 years of near perfect health, was running hard against my statistical risk: “Studies suggest that 45-85% of women with BRCA1 variant develop breast cancer by age 70, and 39-46% develop ovarian cancer.” 

            Strangely, far from feeling like a curse, my BRCA1 mutation finding felt like a blessing. After the initial shock, my reaction was enormous gratitude. It was as though I’d been given a reprieve, as though living my life in blissful ignorance had favored my existence, making extraordinarily good luck, measured against extremely dire odds, seem like the natural order of things. 

            Indeed, over the course of my relatively uneventful medical history, the most serious physical mishap I’d suffered was a broken clavicle that resulted from a minor ski accident. My two sons had grown up strong and resilient, and while I’ve counted my blessings for their existence, it never occurred to me that anything might have interfered with my birthing and nursing them forty some odd years ago. 

            And yet, I now realized, had I learned of my genetic risk as a young, premenopausal woman, deep fears and difficult choices would have complicated my life in incalculable ways. In my nascent awareness of vulnerability, a distinct feeling was forming: I wasn’t ill favored by fate; I was spared.

            This conviction energized me and filled my life with purpose. There’s no other way to account for the overdrive into which I threw myself. I felt empowered by what I had learned and grateful for living in an era when such screening is available. As far as I knew, I was healthy and disease free, and I had just been given information that could significantly improve my odds of remaining so. While committing myself to using my new knowledge as proactively and self-protectively as possible,I lived out this period of my life in a celebratory state of mind. 

            I spent the next months doing extensive research, consulting with medical specialists and genetic counselors, and strategizing my response to my newly developed identity as a BRCA1 mutation carrier. 

            A general consensus between me and my professional consultants was easily reached about what to do about my high risk for ovarian cancer. Because little screening exists that detects this disease, it often presents at an advanced stage and progresses rapidly without cure. In September, I underwent a laparoscopic procedure, called “oophorectomy,” in which my ovaries were removed. This operation took under two hours, and I was able to return home within the same day. After a week or two of mild soreness, I felt strong and healthy again.  

            My high risk for breast cancer was trickier and presented two competing treatment options: intensive surveillance — including frequent examinations, mammograms, and MRI’s — or risk reducing (sometimes referred to as “prophylactic”) surgery. None of the doctors or counselors with whom I met expressed a preference for one choice over the other. Clearly, they believed the decision should be mine, but a constant reminder that surveillance is not prevention hung in the air at every consultation. For me, getting out from under the shadow of doubt and uncertainty figured prominently in my choice to pursue risk reducing surgery.

            But, full disclosure, there was something else that fueled my decision. My guilty little secret about the silver lining to this whole ordeal is that from the time I began developing as a young girl in sixth grade, I’d never been comfortable with my breasts or with wearing a bra. The moment I began to exhibit adolescent changes, my ladylike, hyper-vigilant mother sent me to Fashions for Girls on Madison Avenue to be fitted for my first bra. The experience was nothing less than traumatic.

            Mother called ahead and explained to her favorite saleslady, who had been clothing me for years as a prepubescent little girl, that I would be coming in after school. I was greeted triumphantly: “Congratulations, Elizabeth. We’ve got your bras all ready for trying on.” Everyone in the shop turned to look at me. At least I remember it that way. I was led to a dressing room with a curtain that didn’t close all the way, and Mother’s favorite saleslady stayed right outside to check on how each selection fit. 

            I loathed my “starter” bra, which wasn’t much more than a flat band of white cotton with adjustable shoulder straps, but Mother made me wear it every morning when I dressed for school. As soon as I arrived in the basement locker room, I’d duck into the bathroom, strip off my bra, and swap it for the far more comfortable and familiar undershirt I’d scrunched up in the bottom of my book bag when Mother wasn’t looking.

            It didn’t much matter what I wore under my clothes back then, but as I got older and my breasts developed further, I had little choice but to cover them with “proper” support. I wasn’t what passed for “busty,” but even when I was young and well before nursing babies, my C-cup profile was never what you would call “perky.” As I grew older, my discomfort grew greater along with the force of gravity, and I became more and more dependent upon wearing support, even when lounging around the house in pajamas.

            In general, I’m casual about my appearance. It’s true that I color my hair and wear light makeup when I go out, but that’s about as far as I go in terms of cosmetic self-improvement. I certainly have plenty of wrinkles and enough shadows under my eyes to warrant a facelift, or at the very least some Botox injections, but it has always felt beside the point to pursue such treatments. 

            Growing old with grace has been my mantra, or rationalization, for easing into my senior years without becoming preoccupied with my looks. Physical self-acceptance, I told myself, means eschewing intervention. And while occasionally I would daydream about going bra-less in a t-shirt, it never occurred to me to get a breast lift.

            Now, suddenly, equipped with a BRCA1 mutation diagnosis, that whole perspective got turned on its ear. (Forgive the mixed metaphor; the new me has become obsessed with body parts.) 

            Once I did my research and made my decision to reduce my exorbitant risk for breast cancer, I was freed up to reduce the size of my breasts and enhance their uplift. Since “immediate reconstruction” would be possible during bilateral mastectomy, I got to choose this option and to discuss with my surgeon what kind of breasts I’d like to have. 

            Late one night in the month before my procedure, I trolled the internet for before-and-after photos of surgically improved breasts. It felt a little like pornography, especially when I printed out a couple pages, folded them up, and furtively tucked them away in my purse, lest someone visiting me should come upon them. 

            With considerable self-consciousness, I showed the photos to my surgeon the week before my operation. Whatever it was that I expected — derision? dismissiveness? — for being concerned with my appearance when my risk of cancer loomed so large, I was instead surprised and delighted when my doctor congratulated me on my “realistic” wish list and assured me my choices were in keeping with what I could and should expect. I felt rewarded for diligently doing my homework (he called it “research”), and for my positive, proactive approach to making the very best of a bad thing. 

            At my post-op with my surgeon, two weeks after my bilateral mastectomy with immediate reconstruction, I learned something that took my breath away. My biopsies showed no presence of cancer, but tissue from my left breast contained evidence of “atypical lobular hyperplasia,” defined as accelerated cell growth that’s often a forerunner of cancer.

            Were this diagnosis to have been made before my mastectomy, it would have raised a red flag and entailed aggressive screening. The problem is, however, that a precancerous diagnosis of atypical hyperplasia, which can’t be made on the basis of mammography or MRI, would have been unlikely. Such a diagnosis requires a biopsy, which would only have been occasioned by the discovery of a lump or some other apparent change in the breast.

            But for my testing positive for a BRCA1 mutation, but for my decision to undergo risk-reducing surgery, there’s a chance the rogue acceleration of cell growth in my left breast would have continued undetected, allowing the possibility (enhanced by my BRCA1 mutation) for disease to develop.

            While I’ll never know for certain what the alternative outcome would have been, along with other choices I’ve made, I’m choosing to believe that fate and my decision to respond proactively when I learned of my BRCA1 mutation have spared me a likely brush with breast cancer. 

            A month out from implant replacement of tissue expanders, I’m feeling and healing well and have resumed all my usual activities. As swelling and soreness resolve, I’ve put aside the compression bras that I was instructed to wear in the weeks immediately following surgery. 

            Instead of loose, oversized shirts, I’ve started to dress normally again. Well, not exactly “normally,” because now I wear sweaters and close fitting tops and actually went bra-less in a t-shirt to my yoga class the other day. I especially enjoyed the sukhasanasequence in which I set my intention to remain healthy and strong. I breathed deeply, centered and sat taller, cupped my hands over my heart, and felt grateful for my thus far long and fortunate life.

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