BRCA1 and Me

From the moment I was diagnosed with breast cancer my biggest question was, why? Not necessarily “Why me?” or “Why now?” Sure, I wondered those things. But I needed to know why… medically. Why had my body developed cancer, when exactly a year ago there wasn’t a trace or lump to be found. I needed a medical reason and I informed my oncologist very early on that I wanted to receive genetic testing. This was something he brought up as an option as well. I think young cancer patients are somewhat of an anomaly in the medical world. They want to study us and understand how we develop cancer at half the age of most people.

The Process

I met with my geneticist after my first mastectomy/reconstruction and seven chemotherapy “treatments.” What made the appointment most daunting was the plethora of questions they asked about my background. Luckily, both of my parents were there to fill in any gaps.

In the meeting, the geneticist outlined the possible results of testing. Option one: BRCA1. Option two: BRCA2. Option three: needs further testing. There was a fourth option, I just can’t recall what it was.

To their credit, the geneticists spoke about this complicated topic quite simply. They presented the information in non-medical terms when possible and used diagrams to make their point. I remember one diagram specifically. It represented the BRCA1 and BRCA2 gene mutations. It showed circles on a page starting with a white circle on the left, then light blue, then darker blue. Gradually each circle became deeper blue until the last circle, which was dark blue. The white circle represents a non-cancer cell and the darker the blue gets, the more the cell becomes cancerous. The dark blue circle at the end represents cancer. They believe that people without a gene mutation are born with all white cells. It takes them approximately 60 years to reach dark blue, or cancer. Those born with the BRCA1 or BRCA2 gene mutation are born light blue, somewhere in the middle. Half baked, if you will.

I found this fascinating.

The genetic testing process itself is shockingly simple considering the possible seriousness of the results. A blood test is all it takes. That and a team of genetic geniuses who print out your DNA and look for what they described as spelling mistakes. These mistakes are the cause.

BRCA1 stood out in my mind. Each option had its negative points, but to me, BRCA1 seemed particularly shitty. The recurrence of breast cancer was high, and the possibility of getting ovarian cancer was extremely high. I won’t get into numbers because I’ve seen different percentages reported. Just know that the chance of getting ovarian cancer before I turned 35 was well over 50%. I had just turned 29. Even as I sat in that first meeting I knew – If the results came back as BRCA1, I would get a hysterectomy sooner than later.

I tried not to let my mind wander. I had my blood test immediately after the meeting. I said a little prayer, I went home and I waited…

And waited… And waited… months went by…

The Results

I eventually became impatient and contacted the genetics department. It was summertime and many of the staff were on holiday, which was why my results were delayed.

I received an appointment for the fall. I felt that if they were concerned, I would’ve received an appointment sooner. Ironically, that’s exactly how I felt regarding my biopsy results. As we know, that turned out to be cancer. I guess I should’ve known.

I had a bad feeling as I waited with my parents to go into the results appointment. I told them that if I tested positive for BRCA1 or BRCA2, I wanted them to get tested. (You can only receive the gene from a parent.) Second to needing the results for myself, I had to know which one of my parents had the gene so that they could protect themselves against any possibilities of cancer.

We entered the room and took our seats. By this point, I was tired of appointments, heavy conversations and difficult decisions. I was preparing for my second mastectomy/reconstruction, which was my second major surgery in one year. I was in the zone of toughening myself up and getting ready for the pain. Although I don’t think I left that zone for the better part of two years.

The geneticist sat down across from us and said, “The results have come back and you tested positive for the BRCA1 gene mutation.” I laughed out loud and said, “Of course I did. Of course I am.” The only sound in the room for a few seconds was my dark laughter. The geneticist looked caught off guard and didn’t know how to reply to my outburst. I couldn’t be bothered with trying to make her feel comfortable, which is the exact opposite of how I normally am. My mom teared up beside me and I rubbed my hand against the back of hers. I told her I would be okay. What’s one more surgery, right?

As I said, the decision was simple for me. Saddening, but simple. If I was BRCA1, I would have a complete hysterectomy. The fear of getting ovarian cancer combined with the worry of passing this gene to any child I might have was too much. Of course, they spoke to me about freezing my eggs and the option of testing my embryos for the gene. I thanked them for the information and told them it wouldn’t be necessary. I knew what my next step would be.

The Aftermath

Following the results, I was in a daze. My oncologist and geneticist operate out of the same building. I decided to walk over and share the results with my oncologist. I didn’t have an appointment, but mom encouraged me to pop by anyway. I bumped into him in his waiting room area and he asked me what I was doing there (I wasn’t due for an appointment). I told him I received my genetic results and it wasn’t great news. He told me to check in immediately. I remember telling him that I didn’t have an appointment and I didn’t want to mess up his schedule. He insisted that I check in and come right back. We sat in an examination room shortly after and I told him what the geneticist said. I don’t remember the details of our conversation, but I know he found the right balance of trying to make me feel better, acknowledging my feelings and not trying to sugar-coat the situation. I told him my decision about the hysterectomy and he said we would begin the process of finding me a surgeon when I was ready.

For weeks after my results, I wasn’t the same person. I was in such a dark place, even darker than when I was first diagnosed. I felt this way for several reasons. I couldn’t believe that the bad news kept coming. I couldn’t believe that I had to have a third big surgery. I couldn’t believe that I had to make more difficult decisions. I also couldn’t get over the fact that no matter what I did, no matter how many organs I removed, what caused me to get cancer was literally in my blood. My DNA. There was nothing I could do. Once again, I felt helpless and terrified.

I blogged about my feelings following the results. Check it out at this link. Even as I read it now, I can feel the energy from back then. The darkness. The horrible thoughts that took over my mind. I’ve never experienced anything like it. Looking back, I’m not sure how I came out of that horrible place. I just continued functioning on cancer auto pilot.

The Surgery

As I mentioned, my oncologist helped me find my hysterectomy surgeon. He narrowed it down to three skilled surgeons and I picked according to bedside manner. I selected the doctor known for being firm and decisive. I didn’t want to be coddled. I wanted a doctor who would tell me like it is, not as any of us wish it to be.

And so the preops began, once again. Until one day, all too soon, the hysterectomy date arrived – less than two years after I had been diagnosed with breast cancer.

I sat in the waiting area right outside of the operating rooms, holding mom’s hand. I was in my scrubs, terrified and cold. Ugly hair net on my head and cozy socks on my feet. An all too familiar scene.

I’m not sure if I’ve ever admitted this to anyone…

As I sat there, I spoke to my tummy and the baby I would never have. I told it that, although at this point in my life having a baby wasn’t something I imagined, I was still terribly sad. I could see my big belly and feel the baby growing strong inside me. Mom reached out and put her hands on my bump so that she could feel the baby move. I imagined my baby having big brown eyes, like me. It’s sweet little hand curling around my index finger as it looked up at me and knew that I was its mama. I imagined what its voice and laugh would sound like. I saw myself folding its little clothes, sunlight and happiness pouring into the room. Kissing its soft forehead and smelling that baby smell. My baby’s smell.

This entirely different version of my life flashed across my mind and each vivid image filled me with overwhelming, crushing sadness – for me and for the baby I would never know. I was also heart-pounding angry that I was even in this position at all.

I held mom’s hand, cried, said goodbye to my baby and walked into the OR. And I don’t like to look back.

Are you a young woman with breast cancer looking for community? Join the Rethink Young Women’s Network for support, resources and advice.

Cassandra Umbriaco is a guest blogger for Rethink Breast Cancer. Since being diagnosed with stage two breast cancer at 28 years old, she combines her love of writing with a passion to help women affected by cancer. Check out her blog at  

Cassandra loves travelling as much as she can, dresses that twirl, anything Disney and her little red Fiat – Luna.

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