My BRCA Saga

For years, I've followed a methodical cancer prevention regimen. Meet with a doctor regularly, review my family history, and flirt with the idea of BRCA testing. Nod pensively and affect a solemn expression while listening to medical recommendations. Return home with a sense of accomplishment and pride. Next, the key step: forget about the whole thing for a year, rinse, repeat. Because denial clearly makes you invulnerable to cancer, right? I'm positive that I saw that in a peer reviewed study.

When I met Dr. Smith, I could tell that this appointment would be different. He looked into my eyes with earnest intensity and said, "We are so glad you decided to come in," in a way that was simultaneously terrifying and comforting. I knew my family history was significant, but Dr. Smith seemed impressed. My mother was diagnosed with metastatic breast cancer at 55 and died of it at 63. My great grandfather had also died from the disease, and my paternal grandmother had succumbed to ovarian cancer. All of that plus my Ashkenazi ancestry? I was winning the high risk lottery! We would do the BRCA test that day, with a breast exam thrown in for good measure.

I felt a stab of panic when Dr. Smith paused for further exploration not far from my left nipple. But when he said he felt a slight lump, I wasn't surprised. I had imagined this scenario hundreds of times since my mother was diagnosed, but still I felt tears pouring down my cheeks. Dr. Smith reassured me. It was a small lump, probably nothing, and breast tissue is bumpy sometimes "like a cobblestone road." Still, he recommended that I schedule an ultrasound for the lump, as well as a mammogram to establish a baseline reading. At 33, this would be my first of each.

The waiting room at the breast-imaging center had the vibe of a midrange spa. There were gossip mags and grey robes with teal accent stripes. Alas, there was no soothing pedicure in my future, just mammography. A woman walked me back to the exam room and used various buttons and pedals to help me settle into the machine. When the adjustments were right, she stepped back into her protective booth and the compression commenced. We took multiple x-rays from various angles. I had been worried about the pain, but found the embarrassment of having your breasts arranged by someone's sweet-looking auntie far outweighed any physical discomfort, although there was that too. When it was over, she handed me a tissue and pointed out some clear discharge that had collected at the tip of my nipples. "That's normal," she said. Surprise! The human body is really gross!

Following the comparatively relaxing ultrasound, a doctor came in with my results. The lump was nothing, but the "just to establish a baseline" mammogram showed a cluster of micro-calcifications elsewhere in my left breast. Embarrassingly, I didn't know what this meant. I remember thinking "Calcifications, like calcium? So that's good, right?" The doctor explained that many women develop calcifications in their breasts as they age (way to add insult to injury, lady!) and that they're often nothing… except for sometimes, when they are indicative of, you know, cancer. So I should schedule a stereotactic biopsy as soon as possible. Did I have any questions about that? Oh, only a million, but where to start? What were the chances that this was actually cancer? Would a biopsy disfigure my breast? How much would this cost? Was I going to die?

When my mom was diagnosed with cancer, it was already stage IV, in organs and bones. After the initial shock cleared, we were both surprised at how many things made us laugh, even in the midst of terminal illness. Her perpetually lopsided wigs. Intricate, mummy-like lymphedema wrappings. Her ongoing weight concerns: "Jesus, I have stage IV cancer, you'd think I'd at least get to be thin."

Now, I was finding new things to laugh about, like the stereotactic biopsy set up. A nurse instructed me to climb onto a table and insert my breast into a hole towards one end. Then she cranked the table up, allowing the doctor space to work on me from beneath. It all was starting to feel a bit alien abduction. To enhance the extraterrestrial probing vibe, they compressed my breast throughout in order to find the suspicious area with a few x rays (like a mini-mammogram). The nurse urged me not to move, as not to throw off the precise measurements. Then, they numbed my breast with lidocaine and sucked up some samples with a hollow needle. As always, the doctor asked if I had any questions. I asked if he could tell anything from the x-rays. He explained that some patterns of micro-calcifications are pretty obviously malignant while others are almost always benign. Mine just didn't fall into either category.

The ambiguity continued when a doctor called with my results a few days later. Some of the biopsied cells showed a precancerous condition called atypical ductal hyperplasia. "The good news," said the doctor "Is that this is not cancer. This is not cancer. But sometimes, when we find ADH, it means there is cancer nearby. So we need to do an excisional biopsy. This will be more invasive, and it requires surgery." So, basically, it's not cancer but it also might still totally be cancer? The doctor confirmed that there was a 10 to 15% that it was; my hyopochondriacal Googling put that figure at closer to 25%.

I did a lot more frantic Internet research about ADH in the following days, but the more I read the less I understood. One thing seemed clear: having ADH means one has a higher lifetime risk of developing breast cancer. But lots of women with ADH never become ill. Unfortunately, there is no way to know which group you are in until it's too late. To further complicate matters, the line between ADH and low grade Ductal Carcinoma in Situ (DCIS, otherwise known as "Stage 0" cancer) is very fuzzy, but the difference in diagnoses has major treatment implications. We're talking careful monitoring vs. lumpectomy and radiation, sometimes even a mastectomy. I started to question my recent healthcare decisions. What was the point of seeking answers when they were all so vague and only lead to more questions?

So many of my concerns were superficial and this filled me with guilt. I always said that I would get a mastectomy in a second if it meant avoiding the suffering that my mom had endured. But now I couldn't stop obsessing over what my breast would look like after the biopsy. Would there be a chunk missing? Would the scar be noticeable? How would I explain it to men I dated? Would they be repulsed, freaked out? From there, I often fell down a rabbit hole of existential angst. What was I doing with my life, anyway? Would I have children? Did I want children? Would I be able to breastfeed these hypothetical children? Should I forget this whole thing, move to some far off land and live in obscurity until I inevitably died of the cancer that I felt sure was growing in my left breast?

My BRCA results came in shortly before my surgery. The BRCA test! My head was so full of biopsies and atypical cells that I had forgotten all about it. The results were negative! Finally a bright spot—with a penumbra. I'm what they call an uninformed negative (rude! I'll have you know that I am quite informed!). A negative test result is only meaningful if you know that your relatives with cancer were BRCA positive; that way you can be sure that you did not inherit the likely cause of their cancer and that you are at a much lower risk than them. Unfortunately, I don't have this information about my relatives, so it's impossible to know if my BRCA status means anything at all. Once again, I found myself in a grey area.

My doctor emphasized that an uninformed negative was better than a positive. Of course this was true, but I had been hoping for an answer that would give me some certainty. I felt weirdly envious of women with the mutation: I had spoken with many who had tested positive and gone on to have the recommended prophylactic surgeries. These had been invasive, painful and psychologically difficult but with them had often come sense of relief, of having changed what once seemed inevitable. I was also trying to do the "right thing" to reduce my risk, but figuring out what that meant was becoming increasingly difficult.

On the morning of the biopsy, as instructed, I washed with special soap, I wore no makeup, used no hair product (torture!), and applied no lip gloss (double torture! I am a lip gloss addict!). I did not eat and had but a few sips of water. I felt haggard and hangry. Luckily, the hospital kept it moving. First I met with a doctor for more mammography, which I was an expert at by now. She placed a wire in my breast to mark the area that needed to be removed and taped it down so that I wouldn't have a weird antenna protruding from the side of my chest. Then, a chat with the anesthesiologist who I think was trying to comfort me when he said it was more likely for me to be hit by a drunk driver than die under sedation. Lastly, my surgeon came by to check on me: "Are you nervous? Well, don't worry, you're going to be getting really good drugs soon."

She was not kidding. I had barely settled onto the operating table before I went under. The next thing I knew, I was coming to with my surgeon telling me that everything had gone well and that they had only needed to remove a very small area. Nurses tucked me into a surgical bra, a sassy white number with lace and Velcro accents, and soon I was sitting the recovery area applying lip gloss liberally and eating all of the crackers I could get my hands on.

The days that followed were filled with anticipatory anxiety, but I managed to distract myself with ambitious napping and Netflix viewing. My results came by e-mail and it all felt so anti-climatic. They were negative; I was "okay." "You must be so relieved!" said family and friends. But I wasn't. This felt like a temporary reprieve. Everyone thinks they want to know their future, but I had found out too much about mine, and now I wasn't sure what to do with that knowledge. I wondered if I would spend the rest of my life waiting for the other shoe to drop.

Now I have a few months' distance from the tests and results and with that comes perspective. I remain solidly in the grey area, but thanks to my ordeal I am now more closely monitored than I was previously. Maybe that will lead to even more ambiguity, or maybe it will save my life one day. I'll get an MRI in a few months and alternate those annually with mammograms. I can also talk to my doctor about starting tamoxifen, hormone therapy that could sharply cut my risk of developing cancer. If my atypia reoccurs repeatedly, prophylactic surgery is a possibility. So, I have options, and although none of them are particularly alluring, they are all way better than cancer.

When my mom died, I was the first of most of my friends to lose a parent and I became the go-to-girl for all things death related. Now, the phenomenon has started again, only with cancer scares. While I am happy to support my friends in any way I can, I don't have any sage advice for them. In the end, everyone has to make the choices that they feel comfortable with, the ones they can live with. Cancer screening saves lives and yields important information; just don't expect it to come neatly wrapped in a pink ribbon.


Rachel Shapiro is a Clinical Social Worker, currently living in Seattle (but always dreaming of her native East Coast). She has a nascent blog about her recent health experiences and life in general at High Risky Business.

Image via DoctorKan/Shutterstock.