What BRCA testing is really like | TapGenes
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Helen’s story

In the winter of 1972, Helen knew something wasn’t right. Well into her third trimester of pregnancy, the impending birth of her fourth child wasn’t the only thing weighing heavily on her mind. As she stood in front of the mirror, one hand across her chest, the other cupping her lower belly where her unborn child’s head was safely suspended inside her womb, her steel-blue eyes stared back at her with a look of fear she had never seen before. She didn’t recognize the face in front of her. She knew she wasn’t the same woman she was before, and she knew she’d never be the same again.

Just weeks earlier, Helen noticed several lumps in her breasts accompanied by terrible pain. She had been pregnant many times before. She had carried three other children to full term, yet she had never had these symptoms before. However, doctors assured her that everything was fine. She was a healthy, 36-year old woman about to give birth. What she was feeling was simply due to the pregnancy hormones. They told her everything would clear up after the baby was born. She wanted to accept this as the truth, but a woman knows her body, and this woman knew something was dreadfully wrong.

Soon after, Helen gave birth to a healthy and alert 8 lb., 6 oz. baby girl she named Mary, after her favorite childhood doll. Mary was a doll, with pudgy little arms and legs, deep blue eyes, and a tiny button nose that was eclipsed by her round, rosy cheeks. Mary was so healthy, in fact, that doctors gave her an Apgar score of 10, something that rarely ever happens.

Surely, Mary’s clean bill of health would have quelled Helen’s worries, but it did not. Determined to find out what was going on with her own body, Helen marched back to her doctors and demanded to be taken seriously. Soon, the truth was revealed. Helen had stage IV breast cancer. It had spread so much, that doctors gave her less than a year to live.

Helen had four children to raise. There was no way in hell she was going anywhere. She underwent aggressive radiation treatment and chemotherapy. To her doctors’ amazement, she went into remission.

My story

Helen’s story is the story my mom told me when I was 15-years old. It is her story, and also, my own.

It was the first time I learned that she almost died, the first time I realized that while I was growing inside her, cancer was growing beside me, threatening my life as well. Although my mom rarely ever talked to me about that chapter in her life, I never forgot the little she did tell me.

Eventually, the cancer returned, and my mom passed away at the young age of 55. I was 19-years old. One of her dying wishes for me and my two sisters was to stay on top of our health, get regular mammograms as early as possible and do self-examinations at home. The year was 1991, and gene testing was not yet available. I knew what I had to do, but I was still very young. It wasn’t until I approached my 30s that the reality of what my mom said finally started to sink in.

As I got older, I realized how rare my mom’s story was. Most women do not get terminal cancer in their 30s. So why did she? I began to do my research, and that’s when I learned about the BRCA gene. Breast cancer comes in many forms, and the causes are not all known. However, in 1994, three years after my mom died, the BRCA1 gene was discovered (discovery of the BRCA2 gene followed soon after), enabling the healthcare industry to revolutionize the it tests for and treats certain types of cancer.

Breast cancer gene testing: What is BRCA?

BRCA1 and BRCA2 are two separate gene mutations that have been linked to a markedly increased risk of developing breast or ovarian cancer. What’s more, the gene mutations are hereditary, meaning that they can be passed down from mother to daughter, and so on. Did my mom have one of these gene mutations? I had no way of knowing, but I wanted to learn more, so I booked a consultation with a genetics counselor at the Revlon/UCLA Breast Center in Los Angeles.

The consultation is lengthy and thorough, and for good reason. First, the counselor will sit down with you to find out why you’re there. He or she will give you a full run-down on what the BRCA genes are, how any mutations of these genes are detected and how they might affect your own risk of developing breast cancer. Then, the counselor will review all of your options, should you discover that you have inherited one of these gene mutations.

Next, the geneticist will assess your family medical history. To do this, they will dig back as far as you can possibly go. Be prepared to answer questions about your parents, sisters, aunts and grandparents. The more information you have on hand before this first meeting, the better.

Your family health history clues

However, even if you go in with little to no solid information, all is not lost. Genetic counselors are much like homicide detectives. Often, their clients only have small bits and pieces of information to share. These small clues, when combined, can help the counselor fill in some crucial gaps in your health history and begin to paint a clearer picture of what your risk levels might be. In my case, both my mother and maternal grandmother were deceased. On top of that, I grew up in a family that rarely ever talked about health issues. As you can imagine, I had very little to go on. Despite that, we were still able to move forward with my health analysis.

While this is all going on, the counselor is drawing up what looks like a family tree, complete with names, dates of birth and death and each person’s relationship to you. In addition to that, the counselor will indicate what diseases and/or conditions each member of your family had or has, to the best of your knowledge. This diagram is extremely helpful to both the counselor and client in visualizing the bigger picture.

After this session is complete, the counselor should be able to estimate your percentage of risk for developing breast cancer. At the time of my visit, I had no way of knowing whether or not my mom had the BRCA gene mutation. Without that knowledge, the geneticist could only estimate that it was possible that she did, based on her age at diagnosis and the rate at which her cancer metastasized. For this reason, we both agreed that it made sense for me to move forward with the blood test. This would determine whether or not I had either gene mutation.

The blood test is extremely uneventful, especially compared to the information-gathering portion of the visit. In under a minute, your blood is collected, labeled, and ready to send off to the lab. When I had my test done over 10 years ago, the wait time was about 2-3 months. Today’s wait times may be shorter, but it depends, so check with your facility for a more accurate estimate.

While I waited for the results to come backed, I discussed all possible outcomes with my husband. Ultimately, it was my decision, but I wanted to make sure he knew where I stood and what all of my options were. I had decided that if the gene mutation was found, I would undergo a preventive double-mastectomy. It’s a serious surgery with serious consequences, but I found that the benefits far outweighed the negative. If I could avoid the pain and suffering that my mom underwent, it would be well worth it, not just for me, but for also for my husband and future children.

The test results came back negative. No gene mutation. That was a relief, but it still didn’t answer why my mom had such aggressive cancer at such a young age.

It’s possible that she did have the BRCA1 or BRCA2 gene mutation, or maybe another mutation that hasn’t been discovered yet. There’s no way I’ll ever know. But what I do know is that genetic testing is a great option for women who are already considered high-risk. It takes relatively little time out of your day, is often covered by insurance, and if nothing else, is very educational. I’m very glad I did it, and would highly recommend it to any other woman who’s in a position similar to mine.

In addition to the genetic testing, to honor my mother’s wishes, I have been getting yearly mammograms since I turned 35 and try to remember to do self-exams at home as often as possible. I urge every woman, high-risk or not, to do the same.

TapGenes TakeAway: One woman shares her experience of losing a mother to breast cancer and being tested for breast cancer genes.


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