“There Is No Gene for the Human Spirit”—from the movie Gattaca, 1997
Whether it’s distant uncles purported to be horse thieves in the early days of the Dakota Territory, a brother who nearly burned our house down while attempting to make popcorn in my parents’ bedroom closet, or contests between siblings as to who could stand out at the bus stop in forty degree below zero wind chills the longest, my family has its share of interesting stories. I found my family’s history and its anecdotes both riveting and educational growing up, and my curiosity was insatiable.
What I didn’t learn from relatives at the kitchen table or from eavesdropping on my parents from the backseat of our station wagon, I discovered through covert exploration of family documents: birth and death certificates; baptismal and military records; treasured letters exchanged between far-away loved ones, and from my parents and grandparents.
But of all of our family’s adventures, one story stands out. It is embedded deep within our health history—a genetic mutation that pre-disposes us to colon and other cancers known as Familial Adenomatous Polyposis or FAP. FAP carries an extremely high lifetime risk of colon cancer and elevated risks for other exceedingly rare cancers. It is an autosomal dominant condition caused by germline mutations in the adenomatous polyposis coli (APC) gene.
APC is a tumor suppressor gene. Tumor suppressor genes normally protect our cells from becoming cancerous. The mutation in the APC gene that my family inherited results in switching APC “off”—leaving once healthy cells exposed to a relentless bombardment of signals telling them to keep growing—ultimately leading to the formation of tumors.
It was my paternal grandmother who first shared with me that she suspected there “might be something wrong with your mother’s family.” Her own persistent curiosity and research provided us with the first clues to the mysteries of the syndrome we were dealing with. My mom’s mother (my grandmother Cecilia), two aunts, and an uncle died of cancer in their early thirties. Then, in 1972, my mom was diagnosed with advanced colorectal cancer. She was forty-two.
Suddenly, our family’s narrative was taking a more ominous turn. My mother’s surgeon, Dr. Paul Schultz, encouraged my father to have all of the kids “checked out” as soon as possible. There was a strong likelihood that the problem my mother had could have been passed on to her children. And it was. Five of her eight children had hundreds of colorectal polyps—a marker for FAP. Without surgery and aggressive surveillance for the rest of their lives, they faced an almost 100 percent chance of developing cancer by the age of thirty-nine.
It’s been over forty-five years since we learned the hard truth about the fault in our genes, or what we called the “colon problem that was running in our family.” Today, what we know about this disease is the result of a confluence of several critical milestones in the scientific, technological, and medical fields. These events contributed greatly to my family’s knowledge of Familial Adenomatous Polyposis. The discovery of the FAP-causing APC gene mutation in 1991 (ultimately leading to a genetic test for the mutation), the completion of the Human Genome Project in 2003, and the information-sharing capabilities of the exploding World Wide Web, all contributed to our understanding of the condition.
Today, there are answers available to questions we didn’t even know to ask in 1972. But most of all, it’s the discoveries of relentless and dedicated physicians, scientists, and researchers who persevered despite countless obstacles while trying to unlock the mysteries of our rare disease.
My family’s journey included a path of introspection for me that became the catalyst for writing “Summer’s Complaint, My family’s courageous, century-long struggle with a rare genetic cancer syndrome.”
A medical memoir, Summer’s Complaint took my family’s pain and turned it into purpose—to reveal the humanity and human experiences behind these rare inherited cancer syndromes that many are oblivious to. I wanted our story to speak to the incredible physical and psychological burden these patients and their loved ones carry when faced with a life-changing diagnosis. A journey that saw a niece stricken with brain cancer while her mother, having the same APC gene mutation, reached her seventieth birthday cancer free. Light in the darkness. Pinholes of hope.
Knowing kindness and finding gratitude were keys to our survival. It is the greatest irony of my life that the one thing that made my family different, that made us “rare,” helped me find a deeper gratitude. I am thankful for the courageous and resilient “force” that is my family and have immense appreciation for all of the doctors and researchers who gave us so many memories that we might never have had otherwise. And also for our extended family, friends, and neighbors who literally carried us at times.
Ultimately, Summer’s Complaint is a testament to resilience in the face of adversity and the courage necessary to persevere. Because there is no gene for the human spirit.
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