Amy's "I am Oneinforty" Story
I am Oneinforty…My passion for BRCA education, support, and advocacy began in 2009 after I first learned about hereditary cancer and BRCA1 and BRCA2 gene mutations from my sister. My sister, diagnosed with both ovarian cancer and uterine cancer (two separate primary cancers) in 2008, discovered she had a BRCA1 gene mutation more than a year after her diagnoses—she was the one (not her providers) who insisted on genetic testing that revealed the BRCA1 mutation. My sister learned about BRCA and her red flags after attending an ovarian cancer conference; she was under fifty years old diagnosed with ovarian cancer, of Ashkenazi Jewish descent, and had two separate primary cancers. It was then my family put the puzzle pieces together about my Dad’s mom Lillian, my grandmother. Lillian had died at thirty-three years old in 1934.
As her blood sister, what this meant for me was that I had a fifty percent chance of also testing positive for the same BRCA1 gene mutation. I met with a certified genetic counselor and tested positive; it’s one of the three BRCA gene mutations associated with people of Ashkenazi Jewish descent.
I spent all of January 2010 researching BRCA, hereditary cancer, and my options. Many things factored into my decision-making process about my health. Ultimately, I made the decision to undergo preventive surgeries (prophylactic bilateral mastectomy (PBM) and breast reconstruction and prophylactic bilateral salpingo-oophorectomy (BSO) plus hysterectomy.
With all that I had learned, I knew I could not live with myself if I remained silent about the information. Having these pearls of lifesaving wisdom continues to compel me to help people connect the dots and possibly save lives.
Since 2008, the genetic landscape has evolved regarding BRCA awareness, test accessibility, and research. In 2013 and 2015, movie star and humanitarian Angelina Jolie shared her BRCA story, garnering global media attention. In 2013, the Supreme Court of the United States ruled against the patenting of human genes, which in turn caused competition to occur in the genetic testing marketplace. Scientific advancements and new treatments are happening, but there is still a long way to go. We who have hereditary cancer syndromes need access to better options to protect our health.
I hope that soon there will be research that provides less invasive cancer risk reduction options for women than having to undergo mastectomy and ovary removal. Yes, I want better options for my daughter. However, until those discoveries are made, men and women will continue to have to make challenging decisions about things surrounding their increased risk of cancer.
To ensure you make the best health care decisions for yourself, please speak with a certified genetic counselor before and after any genetic testing.
Amy Byer Shainman, also known as the BRCA Responder (@BRCAresponder), is a patient advocate who provides support and education surrounding BRCA and other hereditary cancer syndromes. She’s the executive producer of the award-winning documentary Pink & Blue: Colors of Hereditary Cancer and co-creator of #GenCSM (Genetic Cancer Social Media). She has been featured in Cure Magazine, The Jewish Journal, and The Palm Beach Post, as well as numerous live and taped television and radio segments nationwide. As a digital ambassador for the National Society of Genetic Counselors gene pool, she is considered one of fifteen influencers who have unique perspectives and knowledge in the fields of genetics and genetic counseling. Her articles have been published in The American Journal of Managed Care and Oncology Nursing News. Her memoir, “Resurrection Lily—The BRCA Gene, Hereditary Cancer & Lifesaving Whispers from the Grandmother I Never Knew,” will be available late 2018. Amy lives in South Florida with her family.