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Things I Have Learned Since Finding Out I Carry the BRCA1 Mutation

Written by Catherine B.

“Freeze your eggs!” “Remove your breasts, and get implants if you want.” “Do it as soon as possible!” “The sooner the better!” are not phrases a woman is ever ready to hear or knows what to do with, but that’s my reality. I’m 29 years old and I have spent the last decade of my life dealing with the risk of hereditary cancer.

When I was 19 years old, my mother passed away from ovarian cancer after a very long, brave battle. My mother had three paternal aunts who all had breast cancer. Knowing that breast cancer ran in the family, she had been very careful to have biannual mammograms and MRIs. But no doctors that she consulted ever told her that women who are at risk for hereditary breast cancer are also at risk for hereditary ovarian cancer. In fact, she once brought the subject of ovarian cancer up to a doctor in California after her annual mammogram—but the doctor merely shrugged off her inquiry and stated that ovarian cancer is very rare and not to worry about it.

Over the course of my mother’s illness, we would hear the same (infuriating) words shrugging off those concerns. But these concerns eventually became a reality for us when in 1998, she was diagnosed with advanced ovarian cancer. Her physician stumbled upon it by accident after assuming the severe stomach pain that was causing her to shriek and wail was due to kidney stones, or that maybe she was even pregnant. An ultrasound found cancer in her ovaries instead and she passed away during the summer of 2005.

The following year, I was advised to have a blood test done to check for BRCA1 and BRCA2 gene mutations. I spoke to genetic counselors about my family history and they estimated my risk of carrying either gene mutation to be up to 12%. I was surprised – how could my mother have had ovarian cancer, and her three aunts have had breast cancer, and my risk of carrying a deleterious gene only be 12% at most?!

The results of my blood test proved this estimate was incorrect and I tested positive for BRCA1, which means that I actually have a 56-87% lifetime risk of developing breast cancer and a 45% lifetime risk of developing ovarian cancer. Strangely enough, I was not afraid when they broke the news to me. I thought I was young and had plenty of time to deal with it. But time flies, and I am now at an age where I have to make decisions. I asked my genetic counselor afterwards “So…what do I do now?”

While all physicians I have met with agree that increased surveillance is of the utmost importance, opinions differ regarding what other preventive measures to take. Some gynecologists have urged me to have everything removed—that is, both ovaries and both breasts. Others have suggested removing my breasts now, and removing my ovaries after child-bearing is complete. And with all that, some physicians (non-gynecologists) find these suggestions a bit too extreme, especially because I have not had children yet.

If you are a carrier of either BRCA gene, you will be faced with many opinions, options and questions. It’s very difficult to decide what to do. Sometimes I wonder if it makes sense to chop off completely healthy body parts, especially when I remember that a person may carry a BRCA mutation and never even get cancer in their lifetime. At other times, I become extremely aware of my own mortality and feel that having preventive surgery may be the best route to take. After all, “better safe than sorry.” Another factor in the decision-making is whether insurance will cover the surgeries you decide to undergo. While most insurance companies will cover the removal of breasts if you have a family history, they won’t pay for implants if that is what you want afterwards. I’m really not sure what is the best route for me just yet, but I’m daily weighing all these options and their impact on my life.

If you have a family history of breast or ovarian cancer, I strongly urge you to get tested for BRCA1 and BRCA2. Knowledge is power, and if you test positive for either genetic mutation, don’t be afraid! Feel empowered in knowing your genetic makeup a little better and having a chance to assess your options early on.

At the end of the day, all women are at risk for breast or ovarian cancer, but those of us carrying the mutation have a higher risk, which means we need to get checked more regularly (twice instead of just once a year). As long as we are on top of getting tested every six months and know what our options are, there is nothing to fear and we can remain one step ahead of cancer.

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