Staying one step ahead of cancer, through genetics

Caroline Danforth

It is impossible to tell my story without beginning with my mother’s.

Nearly 12 years ago my mother, Ute Danforth, assembled the family in our childhood home to tell us she had been diagnosed with stage four ovarian/peritoneal cancer. These grim tidings shocked us and propelled me into a state of denial that my treasured mother could be seriously ill. When I was able to contemplate the prognosis associated with metastasized ovarian/peritoneal cancer, I scanned for any sign of hope, however implausible. One such source was my maternal uncle, a long-time survivor of advanced stomach cancer. I longed that my mother might share the genetics that had made him so responsive to treatment. Little did I know how instrumental our genes would be to my understanding of health, identity, and fate.

My family sought reassurance from accounts of promising medical breakthroughs and victorious survivors. The uncertainty around how long our mother’s cancer might remain in remission after treatment and whether new, more effective medications would become available was difficult to endure. At what age should my sister and I request that blood be drawn to test our CA-125 levels? The increasing awareness of our elevated risk made us note with apprehension any abdominal twinge, however slight.

Over the years since, we have witnessed the exciting release of promising new therapies that renewed our optimism. In early 2015, Lynparza was approved for women with advanced ovarian cancer. It was one of the more promising developments yet came with one caveat: patients had to test positive for either BRCA1 or BRCA2 mutations. At the time, I was ignorant about the meaning of those acronyms. My family and I desperately hoped for a positive test for my mother, yet we knew that it would mean that her children had a 50% chance of testing positive. My mother tested BRCA2 positive.

I soon entrusted a vial of my blood to a genetics laboratory for testing. My federally subsidized BC/BS insurance denied coverage of the test. After several weeks of anxious waiting, I received a letter stating that my result was positive; I too had a BRCA2 mutation. Exactly one year ago, I had my ovaries and fallopian tubes removed. Then, on January 6, 2016 my mother was admitted to the hospital due to complications from an abdominal mass. I visited her in the ER and an hour later strode to the adjacent surgery center to undergo a double mastectomy. These concurrent and poignant events gave me strength and the certainty that I was empowered, out of love for my mother and for my son, to do everything possible to reduce my inherited risk of cancer.

I am the same woman I have always been. We are products of our collective genetics, shuffled and passed down over generations. I had feared the emotional aftermath of surgical menopause and the physical pain from surgery, yet such an aftermath never surfaced. I feel empowered to move forward and am at peace, having reduced my risk so greatly. My mother is now participating in a clinical immunotherapy trial. With each day I feel certain that in the decades to come the battle against cancer will be won through the expansion of our understanding and knowledge of cancer through genetics.