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When I was 27 years old, five words changed my life: “Positive for a deleterious mutation.”
I hadn’t thought much about taking the “simple blood test” to find out if I carried mutations for the so-called breast cancer genes – BRCA1 and BRCA2. I was young, just back from a solo sojourn to India and Nepal, and more focused on how to pay my rent in New York City than my future health.
It wasn’t until the results of that test came back positive and I was staring in the face of my mother, a 20-year ovarian cancer survivor, that I knew my fears had crossed over from suspicion to reality.
The suspicion itself was hazy. We never said the “C word” in my family after my mother went into remission, and my favorite grandma used her soft arm as a chest block during cuddling sessions. It wasn’t until years later, while sitting in a sterile genetic counselor’s office, that I understood why: As I read the words “breast cancer” scribbled next to my grandma’s name, I gasped. She was hiding the hole where her breast used to be. And everyone in my family was hiding the history of cancer that now lay right in front of me. I felt like I was at the bottom of a funnel.
There was no malice to their omission. They were conditioned not to mention the word “cancer” in my mother’s house; yet she’s named after her grandmother and aunt, who both died from it.
What did it mean to know this, to find out I had the mutation? In medical terms, it meant that I have an estimated lifetime risk of up to 85% of getting breast cancer, and an estimated lifetime risk of up to 60% of developing ovarian cancer. In practical terms it meant that I would have to start watching myself carefully—breast MRIs and transvaginal ultrasounds every 6 months—and even consider removing my still-healthy breasts and reproductive organs altogether to avoid disease. That was a lot to swallow at 27!
So why would anyone want to find out such grim statistics? Admittedly, I asked the question after the fact. But the journalist/documentary filmmaker in me needed to go through the questioning process, albeit in reverse. It led to five years of researching and shooting and editing a documentary. (It’s a mega question!) That film turned out to be “In the Family,” which was broadcast on PBS on the “P.O.V.” series nationwide on October 1st.
In my film, Linda Pedraza, a brave BRCA-positive woman staring in the face of terminal cancer, says, “If I could have turned the clock back, I would have all of those surgeries. It may not be the ideal life, but it’s life and you don’t mess with it.” After five years of questioning, I’m left with Linda’s words and the painstaking realization that I’m glad I know I have this messed-up gene. Because knowing may be the key to evading suffering and to long-term survival. If I never took the test, I would still be walking around with a gnawing suspicion and no security blanket whatsoever.
To all of you out there who are considering genetic testing for BRCA, here are a few words of advice:
REMEMBER THAT GENETIC TESTING IS YOUR CHOICE. First of all, the decision whether or not to get genetic testing for BRCA is entirely individual. There is no right or wrong, only what is right for you.
TALK TO YOUR FAMILY. The best way to get accurate information about your family health history is from family members. Ask your relatives if there are any first- or second-degree relatives who had breast and ovarian cancer. It is important, if possible, to record the age of onset, the nature of the disease, and whether or not it was the cause of death. Please note that men can carry BRCA mutations, develop other cancers as a result (e.g., prostate cancer), and pass them along to their children. Therefore, it is essential to also record health information in female relatives on the paternal side of the family, as well as the health history of men. Once you have recorded this information, you will have a more accurate picture of whether or not your family fits the BRCA profile. If you need assistance creating your family tree, the Centers for Disease Control has a great resource at https://familyhistory.hhs.gov/. Once your family history is recorded, talk to a certified genetic counselor for interpretation (more on that below).
SEE A GENETIC COUNSELOR. A genetic counselor can help interpret your family health history and let you know if BRCA testing is right for you. To find a genetic counselor, in your area, visit the National Society of Genetic Counselors (http://www.nsgc.org/resourcelink.cfm).
ARM YOURSELF WITH INFORMATION. You should do as much research as possible on the options available for BRCA-positive women ahead of time, in case you do test positive for the mutation(s).
ASK YOURSELF IF THIS IS THE RIGHT TIME. You already have all of your genes and the blood test will not change whether or not you have the BRCA mutation. Therefore, you should decide if the time is right for you to find out. A few questions that may help in decision-making are: Will I do anything different if I get a positive test result at my age?; do I feel that this information would add too much pressure to my life?; do I have a support structure in place to help me deal with my results, positive or negative; is my family supportive of my decision to find out my status?
TALK TO YOUR FAMILY AGAIN. Testing for BRCA not only affects the individual taking the test, but the entire family. If you are the first to test without a known mutation in the family (this means that a positive test result for BRCA has already been identified in a blood relative), you could be the first to identify that other family members might be at risk. To prepare for this possibility, talk with your immediate family ahead of time as to what responsibility you have in notifying other family members should you discover a positive BRCA mutation. You may also want to check with your extended relatives ahead to inquire as to whether or not they want the results. These conversations will ensure that the process is as open and transparent as possible.
Visit Breast Cancer: Healing the Whole Woman to read all of our breast cancer content.
Joanna Rudnick is the director and producer of “IntheFamily,” a film about predicting breast and ovarian cancer, and the director of development at Kartemquin Films.
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