The Diagnosis I Missed: What My Family’s Fight with Lynch Syndrome Can Teach You

As a doctor, my medical practice has always focused on preventive medicine. I know the value of catching diseases early. Yet, a hidden genetic mutation caught my family completely off guard. My mother had colon cancer at age 51. Because of that family history, I knew I needed to start screenings early at age 40. My GI doc suggested a colonoscopy every three years. However, I wanted to prevent cancer at all costs. I planned to get screened every two years instead. My mother also had uterine cancer at age 44. But because she smoked two packs of cigarettes a day, I blamed her cancers on tobacco. I did not realize a deeper issue was at play.

A Family Tragedy

After my second colonoscopy at age 42, my younger sister called me. She was dealing with severe stomach issues. Her doctors thought it was just Irritable Bowel Syndrome (IBS). Knowing our family history, I urged her to get a CT scan. The results were devastating, stage 3 colon cancer. Like our mother, my sister was a heavy smoker. Sadly, despite surgery and chemotherapy, she passed away just 18 months later.

Finding the Missing Piece

Shortly afterwards, at age 44, I went in for my third colonoscopy. It revealed I also had stage 3 colon cancer. The results changed everything. I met the medical criteria for a genetic condition called Lynch syndrome. Soon after, genetic testing confirmed a mutation in my MSH2 gene. In medical school, I was taught that colon cancer grows very slowly. However, Lynch syndrome cancers do not follow that rule. They grow fast. This is why patients with Lynch syndrome need a colonoscopy every single year, starting at age 40. Looking back, I realize so much pain could have been avoided if we knew about Lynch syndrome sooner.

The Power of Genetic Testing

Dr. Henry Lynch dedicated his life to studying families with multiple cancers. In 1994, scientists finally discovered the genes linked to Lynch syndrome and BRCA (the breast cancer gene). Today, over two million people in the United States have Lynch syndrome or a BRCA mutation.  Sadly, most of them have no idea. Genetic tests are now highly affordable and cost $300 or less. With tools this cheap and accessible, there is no excuse for families to suffer from late-stage hereditary cancers. Prevention is power, and knowing your genetic risk can save your life.