When I was diagnosed with ovarian cancer in May 2011, I learned that the pathologist who found my cancer also saw markings consistent with the BRCA genetic mutation that is prevalent among people with Ashkenazi Jewish lineage.A Carolinas Medical Center hospital geneticist confirmed that I am BRCA-1 positive, which is about the only thing I have in common with Angelina Jolie.At the time, the news that I had a genetic mutation on top of cancer felt like a double whammy, which strikes me as silly in retrospect because cancer itself is a mutation. But it seemed as if I were doubly cursed with this hereditary trait, this mutation that greatly increases the odds of developing breast cancer and could be something I passed on to my children.I have come to realize that my BRCA-1 mutation is a mixed blessing. It is the culprit behind my cancer, explaining why I developed ovarian cancer at 46 with no history of it on either side of my family.But knowing about it can now serve as a weapon. My children may inherit the mutation and also the gift of being able to make key decisions that could very well save their lives.If they are BRCA-1 positive, they will know to be extra vigilant with screenings and other diagnostic procedures. My girls may opt to have prophylactic surgeries – as I did with my December 2011 double mastectomy – that will greatly reduce their odds of developing the BRCA-1 high-risk cancers.But even in my case, the mutation can be harnessed into something positive.It turns out that BRCA-1 ovarian cancer is more receptive to chemotherapy. As my oncologist, Dr. R. Wendell Naumann, explained, “The good news is that because of the mechanism of the development of cancer, the (BRCA) cells are lacking a major DNA repair pathway. Therefore, when you treat with (chemotherapy), the cancer cells cannot repair the damage as effectively as the normal cells.”My mutation also rendered the way my chemotherapy was administered more effective. Recent studies indicate that peritoneal ports, allowing the drugs to be blasted directly to the abdomen, fare better with BRCA mutations.I now serve as a patient advocate and speaker for Myriad Genetics Inc., the molecular diagnostic company based in Salt Lake City, Utah, that first identified the genetic mutation responsible for my cancer.I am passionate about getting the word out that obtaining a family history and pursuing genetic testing can save lives. I include a call to action and a shout-out to genetic testing as part of the talk I give about my cancer journey.My girls have become advocates, as well. They shared the stage with me in Orlando this month at Myriad’s annual sales meeting, and sang a song about genetic testing and its relevance to their young lives. I wrote the lyrics but wisely chose to have my girls, who are far more musically inclined than their mother, do the singing.The chorus is as follows: Genetics, what’s not to like? Lets you know what’s coming down the pike. Some things are a mystery, Others are a certainty. Find out what lies in store for you, Then decide what you want to do… More tests or treatment or nothing at all, Now or later, that’s your call. No need to worry, fear or cower ‘Cause it’s never too late to change your fate And knowledge is power.
Tuesday, Jul. 29, 2014
Knowing genetic history can save your life
Katya Lezin is a freelance writer. Have a story idea for Katya? Email her at firstname.lastname@example.org.
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