What No One Tells You About Your BRCA Mutation

Illustration for article titled What No One Tells You About Your BRCA Mutation

I am driving down the familiar stretch of I-40 that leads from Lineberger Cancer Center to home when my mom asks me to pull over the car so she can vomit.


My mother, through a life that included not just one but two rounds of breast cancer, is one of the strongest women I'll ever know. When she made that first call telling me that her breast cancer had returned after fourteen years of remission, she wound up comforting me. She had even called friends of mine ahead of time to come to my apartment so I wouldn't be alone when I got the news. In public she was so well put together that friends would often comment to me that they couldn't believe my mother had cancer.

However, this time it was only the two of us in the car, coming back from her latest round of chemo. For once, my mom could be vulnerable. After she threw up on the roadside and got back in the car, she looked me directly in the eye. "If there is anything you can do to avoid going through this," she said, "do it."

She was 28 the first time she was diagnosed, and I was too young to really understand what cancer was. I did know that my once vibrant mother was now tired all the time, and that she was in the hospital constantly, for a lumpectomy along with a round of chemotherapy and radiation.

Later that year, they found her cancer-free, but breast cancer remained a nonstop presence. My mom kept in touch with her support group and watched her friends succumb to more advanced stages. During self-exams, she'd find lumps in her breasts that would scare her, although they all turned out to be scar tissue from her surgery.

Until, one day, the lump was something different. 14 years after her first diagnosis my mom's cancer came back in a different breast. Because she was so young during her first occurrence, the doctors suggested she undergo genetic testing, and this revealed that she had a BRCA2 mutation.

Since 2007, I've known that there was a 50/50 chance that I was a carrier for the mutation as well. But for complicated reasons, I avoided getting tested: I wanted to wait until I was in a stable place in my life. I wanted a career and a romantic partner before I knew. This summer, I finally did it, and I learned I had inherited the mutation, which is what I had always suspected deep down all along. All I needed to see was the faces of my doctors whenever I told them how old my mom was at her first diagnosis: the look was always the same, and it read, "You're doomed."


Women with the BRCA2 mutation generally have three alternatives. Number one, you can undergo high risk surveillance which consists of having a mammogram and ultrasound every six months; number two, you can take Tamoxifen, a chemo-preventative drug that has been shown to potentially reduce the risk of getting cancer in women who have BRCA mutations; number three, you can undergo a preventative double mastectomy, which reduces the risk of getting cancer from around 80% down to roughly 3%.

My mom took Tamxoifen after her second incidence of cancer. The medicine left her constantly tired and nauseated, and my memories discouraged me from considering it as an option. And, when recommending options, doctors use the age that your first-degree relative developed cancer as a benchmark; because my mother was abnormally young the first time she had cancer, the doctors strongly recommended that I consider having surgery.


Surgery can feel like an alarmingly drastic step, and at first, it did to me. I briefly considered enrolling in NYU's high surveillance program as an alternative, but the thought of spending every six months worrying about the results of my mammogram was not the way I wanted to live my life. I also wanted to do anything possible to avoid the possibility of having to undergo chemotherapy, which affects your entire body. And luckily, I am fortunate enough to be just the right size for a direct-to-implant or one-step breast reconstruction. This means that I will wake up with my new implants already installed.

So I scheduled surgery for December of this year.

I thought I was prepared for all of this, after all my mom had gone through with me at her side. I had done plenty of advance research before getting tested myself. But despite all this I found myself floundering through the whole process, starting even before I got my test.


Like almost everything in New York City, getting an appointment to get genetic testing is a competitive sport. I first made the call to schedule BRCA testing in December 2013, and was told the first available appointment was May 2014. I took the appointment, but then switched jobs in April, which meant that I would be without insurance coverage for a month. When I tried to push back the appointment by a week or so I was told that I would need to wait until October for another appointment. (Luckily, I do volunteer work for a breast cancer organization in NYC, and the executive director pulled strings to get me an appointment. If I hadn't had the connection, I might have waited almost a year.)

Another thing that I thought I'd prepared for was the cost. But the doctor's appointments kept coming. I needed to see a gynecologic oncologist to monitor my ovarian cancer risk, because BRCA mutations also give carriers an elevated risk of developing ovarian cancer. I needed to get see a dermatologist and eye doctor since BRCA mutations also create an elevated risk of melanoma. The appointments and procedures snowballed from there: a CA-125 blood test to make sure I was a cancer free; a transvaginal probe to check my ovaries; a mammogram and ultrasound; meetings with breast surgeons and plastic surgeons. I've had more doctors' appointments in the past three months that I've had in the past three years. Even with health insurance, the bills have added up to the point that I dread my mailbox.


(One crucial thing that was affordable was the test itself, which I wish I'd known before the fact. I'd heard that the costs of BRCA testing can range between $3,000 and $5,000. That's true out of pocket, but many insurance plans will cover the test if you have a first degree relative who has a mutation. Additionally, if your parent already has a known mutation, Myriad Genetics can test the genome for that sole mutation instead of running a full panel. Because I had my mother's test results, my test was only $300 before insurance.)

But maybe the most impossible thing to prepare for was how this would affect the way I thought about love. When I started this process, I had a boyfriend. I had this fantasy that he would be the Brad Pitt to my Angelina Jolie. When I had told him about my decision to get tested he had been incredibly supportive. But whatever pressure you feel about commitment in a normal relationship is multiplied by a thousand when you get diagnosed with a BRCA mutation. The day I got the test results, my boyfriend took off work to go with me. We had been together for roughly nine months at that point, and after telling me the news, the doctor asked us point-blank if we were planning on having children. "If you are, you should do it sooner than later," she said.


At a later appointment, an OB/GYN echoed this. "If you're in a relationship, you need to figure out if it's serious or not," she said.

I can only speculate as to whether we would still be together if I hadn't gotten the diagnosis. But we're not, anymore. One day last month, I got the "I'm not happy anymore" speech, and we went our separate ways. I was prepared for this, because I'm the type of person who always prepares for the worst-case scenario, and I knew that this was enough external pressure to drive anyone apart. But still, I panicked for a little bit. I thought about postponing the surgery until I found someone who could go through it with me.


But then I remembered I wouldn't want anyone who couldn't deal with my scars as a long term partner. And in truth, it's not romantic love that's gotten me through this, but a different kind. It's my friends who have gone to doctor's appointments with me, cried with me, kept me encouraged.

Now as I get ready for my surgery, I'm left wondering about the future, and whether or not I'll be able to have children. My doctors have recommended that I have my ovaries removed at some point between the ages of 35 and 38: unlike with breast cancer, modern medicine can't catch ovarian cancer as early. I've only got six or seven years now, and I'm single, and don't know if I should freeze my eggs. I've always felt I wanted a baby someday but the costs of egg freezing (roughly $10,000-$12,000) plus another $1,000 in yearly maintenance fees has made me question how sure I am about this desire. (My OB/GYN also explained that if I had my eggs frozen, I could eventually screen the embryos to see if it tested positive for a BRCA2 mutation, which freaks me out a little because it sounds too much like Gattaca.)


I've kept most of this inside for now. Telling people I have a BRCA mutation is somewhat awkward because I'm not actually sick: I just have a very high risk of being sick in the future. Since I'm not actually sick, sometimes I feel guilty about being sad or worried because I know that my situation could be so much worse if I was actually dealing with cancer right now. Anyway, I've always had the reputation among my friends for being the "strong and resilient" one, and when you know everyone is worrying about you, you do anything you can to make them worry less.

Sometimes I think about something that my professor said in my entry-level psychology class my freshman year: "Sadness is an emotion just like any other one. We never tell people that they are experiencing too much happiness. You have to let yourself experience sadness just like any other emotion."


So I try to let myself cry when I need to. I've cried quite a few times over the past couple of months. I've cried because I worry my new body is going to feel unnatural. I've cried from the fear that I won't get married and have a baby before my ovaries have to be removed. I've cried when yet another ridiculous bill from NYU shows up in my mailbox. After my breakup, I stood in my living room and asked the universe why it was taking my breasts and my boyfriend away from me. I've come to terms with the fact that those moments don't negate my strength. They simply mean that I am human.

This experience has also been a reminder to me that we can't always rigidly control our lives. When I moved to New York City four years ago to start my career as a lawyer, I thought that when I was 29 I would be planning a wedding instead of picking out breast implants. I had actually switched firms back in April with the idea that I wanted to speed up my development as a litigator but now I'll be taking three weeks off from the job (not to mention the countless billable hours that have been lost to doctor's appointments). I have never been good at taking things one day at a time: it took circumstances this drastic to teach me how.


After my diagnosis I did a lot of searching online for stories from women who were dealing with a BRCA mutation, and I couldn't find a single one written by a woman of color. I suspect that this is because of the well-documented fact that African-American women are less likely to have access to the financial resources (which includes insurance coverage and ability to take off time from work) to undergo genetic testing and counseling. However, a 2013 study from the University of Chicago of African-American women who had been diagnosed with breast cancer revealed that almost 10% of participants in the study had a BRCA1 or BRCA2 mutation.

If you're an African-American woman reading this and you have a family history of breast cancer (particularly with relatives who were diagnosed before the age of 45) I would encourage you to speak with a genetic counselor to assess whether you should undergo testing. If you have a first degree relative who has already tested positive for a mutation, most insurance plans are required to cover the costs of testing. There are also organizations that will help cover the costs of high-risk surveillance if you test positive, including the organization that I volunteer with, the Breast Treatment Task Force.


The past couple of months have not been easy, but I feel empowered by my ability to make a choice about my health. So I decided to write this piece, with the goal that someone who may be dealing with BRCA might read it and feel a little less alone and a little bit more understood. Or that someone who knows she has a family history of the mutation might be motivated to get tested and assess their options. If that happens, then all of this will be worth it to me.

Erika Stallings is a Tar Heel and a lawyer living and working in New York City. You can find her @quidditch424.


Illustration by Tara Jacoby




My wife is BRCA2 positive, her mother has had bilateral breast cancer (the first in her 20s as well), a benign brain tumor that left her deaf in one ear, and a lymphatic cancer (that after almost 2 years of chemo is officially gone!). I had been dating my wife for a few years when her mother tested positive for BRCA2, and a year later we found out she is also positive. It's interesting, when she tested positive I did stop and think about it. Not that I wanted to leave me wife (then long-term girlfriend), but if I would be able to be there for her, if the worse happened and she had cancer as much as her mother. I figured the worse thing I could do would be to back out, or fall apart, when she needed me most.Clearly, I decided I would be there, and I would support her whatever happened. But I think it was a good thing to think about consciously, as cold as it may sound.

She has chosen to undergo the twice a year tests, until she is older and the risk increases (its actually a back and forth between an MRI and mammogram, and vaginal ultrasound for ovarian cancer risk). I cannot tell you how many times my wife and I have had to explain to a Doctor or Nurse that she really needs a mammogram/MRI, and yes the insurance WILL cover it, we are sure. No you don't have to call three more people, and take another hour to confirm, yes we have done this before... please just do the test so we can go. It happens EVERY TIME we go to a new place, or see a new receptionist/doctor/nurse.

It has become an ongoing joke how many people (at the medical center she has been referred to for BRCA2+ treatment) will try to tell us there has been a mistake, and we cannot possibly be there for the reason we are supposed to. 8/10 they don't trust the chart and call someone. *laughs* I am glad they don't want to make a mistake, but it's comical, and speaks to how new genetic testing based prevention is, even in the medical field- with specialist on breast cancer.

We are a lesbian couple so we have a plethora of eggs to select from, but we have talked about genetic selection of an egg she avoid a BRCA+ baby if possible. The technology has been in action for over 10 years, and I know a few young individuals who are the result of such a selection (to avoid deadly disease). I am also a scientist working in cancer research, so I may be more open minded to it. The result does not have to be scary, and will save a child from a frightening and potentially fatal disease. I think we need to consider the ethical implications of our science, but that doesn't mean we should fear it without consideration either.

There are national support groups, and there is a yearly convention of scientists, survivors and other BRCA 1 and 2 + individuals you might want to check out (if you haven't already). if anyone is interested they is info here. We have not attended but my mother-in-law has considered going. http://www.facingourrisk.org/get-involved/e…

Anyway I wanted to share our (mostly my wife's obviously) situation, because I think you are right Erika, BRCA is scary, and maybe hearing a few more stories about what life with a BRCA+ result is like will help a few more people get tested, and deal with preventative care. Good luck, and thanks for writing.