Finding out I was BRCA2 positive didn’t seem like a big deal when I was 23.
One mastectomy, one reconstruction, three skin excisions (with more to come), crazy medical debt, many infertility treatments, and one miscarriage later — BRCA is seeming like a bigger deal than I once thought.
As Maria von Trapp sang, “Let’s start at the very beginning. A very good place to start.”
When I was a 23-year-old college student, deciding to go forward with BRCA testing seemed like a no-brainer. Why wouldn’t I want to know if I had a ridiculously high chance of getting breast or ovarian cancer? Why wouldn’t I want to ensure that insurance cover necessary preventative screenings and surgeries to lower my risk? And most importantly — with my family history (hella BRCA related cancers) and Ashkenazi Jewish heritage (1 in 40 chance of carrying BRCA mutations vs 1 in 500 for general population risk) — I was almost positive I was a BRCA carrier.
I’m the type of person who is less stressed knowing everything than having uncertainty (I was a journalism major, after all). Plus, my mom was refusing to get BRCA testing at the time, so I wanted to know if she had the gene and try my best to convince her to remove her ticking time bomb ovaries that had taken away her mother wayyyy too soon.
So, I got the BRCA testing, found out I was positive for the BRCA2 mutation, my mom got tested (she was also BRCA2 positive), she got her ovaries and fallopian tubes removed, I spent lots of time arguing with insurance companies about why such a young person needed annual breast and ovarian cancer testing, and I was on my merry way? Right? Not so much.
Thankfully, my hero, Angelina Jolie, wrote her famous NY Times Op-Ed in 2013. That made things a lot easier with insurance and just explaining BRCA to friends and family. Suddenly, all I had to say was, “…you know, the Angelina Jolie gene.” Everyone understood exactly what I meant. Still, as it turns out, being a BRCA carrier is not as simple as I once thought.
I never thought about having a preventative mastectomy just because of the BRCA mutation, but changing career paths to become a Registered Nurse changed my thinking. After learning more in Nursing School about the BRCA2 mutation (thanks, pathophysiology), I met once again with a geneticist and decided to have a prophylactic mastectomy and reconstruction during my fall and winter breaks from Nursing School in 2014. Looking back, it was an insane timeline, but somehow even with crazy complications from surgery, I made it through without missing class or clinical rotations. I also decided to write about my journey and created a blog — and have now met so many incredible people online.
Flash forward to Summer 2015. Breast cancer risk lowered: check. To-do list: have babies, have ovaries and fallopian tubes removed, never worry about BRCA again!! This is where the BRCA mutation came in and threw an effing wrench in my plans.
One of the reasons I had my mastectomy when I did, was that being pregnant with a BRCA2 mutation can be quite dangerous, as you can’t be properly screened for breast cancer and if you do get breast cancer while you’re pregnant, it can spread very quickly. I met a lot of BRCA carriers who got breast cancer while they were pregnant, and decided to have my mastectomy before trying. So, after being a year out from my mastectomy, and becoming a Registered Nurse, my amazing husband and I started trying to get pregnant in August 2015. I knew these things don’t usually happen right away, especially in your 30s, but I knew something was off when I was trying to track my ovulation and the tests never came out positive. After seeing many specialists, I finally got lab testing that showed my ovarian reserve numbers were closer to a 50-year-old’s numbers than someone in their early 30’s. “Diminished ovarian reserves, possible premature ovarian failure.”
I heard those terms in my head and starting making a to-do-list on how to get pregnant. Then, the doctor told us, “Diminished ovarian reserves have been linked to the BRCA mutation.” I started to cry. Knowing you have the BRCA mutation is a blessing and a curse. Usually, the blessing part outweighs the curse, but I felt so sad with this news. She pointed us to a UCSF study that I had never heard of, despite being so involved in the BRCA community. I really encourage everyone who is BRCA positive and thinking about starting a family to read the study — I wish I had known about it earlier. So, we started on the path of fertility drugs and options to have kids, and then BRCA threw something else at me.
Another not so fun (and not so well known) risks with a BRCA2 mutation, is the risk of melanoma. I found this out when my mom got a call right after having her ovaries removed to prevent ovarian cancer. I was taking care of her post-surgery and driving her through In-N-Out Burger to get her a vegetarian grilled cheese sandwich. She got a call from a doctor and her response sounded very concerned. My stomach dropped, thinking it was her surgeon, telling her the pathology showed she had ovarian cancer. Ironically, it was her dermatologist telling her that a mole they had previously biopsied and told her was benign, had come back from pathology as malignant melanoma. She had to go in to have it removed and tested again immediately. That should be a line if Alanis Morissette ever does a BRCA themed version of Ironic — “It’s like raiiiiin on your wedddding dayyy. You just had a prophylactic salpingo-oophorectomy, only to find out you have malignant melanoma.” Anyway, she had the melanoma removed (twice), and got a clean bill of health (yay)!
I had been a bit overdue on my annual skin check with the dermatologist and my husband encouraged (or as he says, “hounded”) me to go. Luckily he did, because I had 2 pre-melanoma moles. I had to get them removed right before Thanksgiving and Christmas. Because the cells were so “severely atypical”, they had to be wide margin excisions, which basically means a football shaped portion of skin they remove, with tons of stitches and not much fun. But, I got them removed, and moved along with trying to get pregnant.
Because of the diminished ovarian reserves, we decided to try a round of IVF. We did one round and got 2 mature eggs (this was a miracle for us, but to put things in perspective, someone my age usually would retrieve 15+ eggs from a retrieval). Another miracle, those eggs fertilized into embryos, and another miracle, we implanted both eggs and I got pregnant. We were over the moon. Heartbreakingly, I lost the pregnancy. I don’t think either of us have been as sad about anything in our lives.
Having a miscarriage probably doesn’t have to do with BRCA, but I wanted to share because so many couples go through the pain and anguish of infertility and of miscarriage, but for some reason, it is almost taboo to talk about in society. When I searched online for what to expect with my hormones and body during the miscarriage, I found very little. Luckily, we had told some close family and friends, so we had a support system — but far too many couples have to hide miscarriages/infertility, even though both are so common. More and more people are opening up about this topic, including public figures (I definitely cried listening to Beyonce’s song about her miscarriage). We’re still healing and know this might be a long journey ahead, but we’re staying positive, watching lots of Broad City, and we have faith that we’ll have the baby meant for us when the timing is right.
I actually was on my way to my 6 month dermatology check-up when I got the phone-call confirming I was experiencing a miscarriage, so I cancelled the appointment (I don’t know how I made that call without crying), and drove home before completely breaking down. I rescheduled the appointment for a later date, and went to the dermatologist thinking there’s NO WAY I would need any biopsies because I just had two of them at my last appointment? Turns out, I had to have 4 moles biopsied and 3 of them came back pre-melanoma. WTF! So now, I’m currently recovering from the first new excision, which had to be even wider than normal because the margins weren’t clear (an indication that the pre-cancerous cells are more severely atypical). I’m waiting for the pathology on that one to come back, but I’m pretty hopeful it isn’t melanoma because we caught it early.
And that’s the crazy thing about this BRCA journey — Hope. Despite all the curveballs BRCA’s thrown at me, despite being in desperate need for a vacation and soul recharge, despite feeling like I’m constantly recovering from procedures or at the doctor’s office, I still have hope. And I’m so thankful to have my supportive husband by my side, rolling with the punches, and being my honorary nurse.
I’m still hopeful and still so so thankful I got tested. All of this BRCA drama has shown me that my mutation tends to be active, and I’m so happy that starting a decade ago, I’ve had all of these screenings and medical procedures that have helped me (knock on wood) “cheat cancer”.