Good Genes Cancer Stories: The Art of Oncology

"Good Genes," by Kaitlin Demarest: a resident searches for answers after genetic testing.
 
TRANSCRIPT
Good Genes, by Kaitlin Demarest, MD1 (10.1200/JCO.22.00871)
My mother was diagnosed with breast cancer when I was 5. I accompanied her to a handful of chemotherapy sessions and filled the time with MadLibs and word searches. The drive to the hospital became familiar; the diner where I celebrated my fifth birthday was on the way, as was the dairy bar and the Chi Chi’s that shut down. I grew accustomed to her wearing wigs and remember vividly the time one almost flew off her head on a windy day at Rockefeller Center. I learned that vomit could be green and what a computed tomography (CT) scan was. This is not to say that I knew what was going on or what all of it meant.
When she was first diagnosed, my dad explained that there was something scary growing inside my mom and her doctors needed to take it out. He drew an arrow coming out of a finger instead of breast tissue to help my young mind better grasp the concept. I was not sure why the cancer picked her breast to start growing in but that mattered little to me as my kindergarten logic figured it would be simple enough to take out. However, after “trying to get the cancer out” with surgery and chemo, she only seemed to get sicker. She would spend days on the couch after treatments, nauseous but not wanting the Coke syrup she would give me when I was sick.
Eventually, she returned to work, her new head of hair much curlier than before, and things seemed normal again for a brief time. I can recall multiple times, almost yearly, that I believed she was cancer-free, but then I would overhear her telling someone over the phone that she needed to start treatment again.
I clung to the belief that everything would be okay without a second thought, but then one day the summer after fourth grade, she told me and my brother that she would not be getting better. Soon she was in hospice care, and then she was gone.
Losing her at 10 years old, there was so much I did not understand. I decided I wanted to become a doctor and tried to start my medical education as soon as possible to fill in these gaps. I wrote research papers on cancer topics in middle school, took as many science classes as possible in high school, and majored in molecular biology as an undergrad. I even spent a summer shadowing oncologists, including one of my mom’s. He called me by her name a few times, which mostly warmed my heart that he still thought of her and reminded me that he had known her too. He was very kind, clearly doing the best for his patients. Watching him, I began to appreciate the rocky road of disclosing setbacks and poor prognoses as a provider.
Despite a week of shadowing my mother’s oncologist and countless visits with my aunt and uncle, both doctors, who had helped her navigate the treatment process and even took care of her when she was home on hospice, I refrained from asking about the genetics of my mother’s cancer. Perhaps due to wishful thinking, I was under the impression that my mom had been tested for hereditary breast cancer syndromes while she was alive and that she was negative for BRCA mutations. But finally, at the end of my first year of medical school, over the karaoke music at a bar after my cousin’s college graduation, my aunt told me that she had never been tested; I would need to be tested soon.
I had been scared to receive the results of my genetic testing. I had faced mortality but avoided thinking about my own. I remember my heart pounding as I listened to my genetic counselor, trying to discern any doom or gloom in her tone. After she carefully explained that I carried no mutations known to be associated with cancer, I caught my breath and relief did wash over me. Then it was all over. Years of questioning, asking what if, bargaining, avoiding, wondering, hoping all tied up. “Take care of yourself, Kaitlin,” she said, “Don’t study too har