It has been just over one year since I was diagnosed with Stage IIIb colorectal cancer, due to a well-characterized mutation in MSH2, one of the genes involved in Lynch syndrome. The last 11 months have been a roller coaster, emotionally and physically. The hardest part was accepting that I could have potentially prevented my cancer (or at least skipped chemotherapy) if I had chosen to undergo genetic testing five years ago. As a graduate student in Human Genetics, I suspected that my family harbored a mutation in a hereditary cancer gene, as five of my maternal relatives had been diagnosed with various cancers—three before their 40th birthdays. I searched for a genetic link, scouring pamphlets from genetic counselors. Nothing made sense—until several years later, when one of my family members was diagnosed with a well-characterized mutation in MSH2.
My name is David, and I am a Lynch syndrome survivor. Since 1997, I’ve had three tumors, undergone seven surgeries, and chemotherapy—so I’m very much a survivor in just about every sense of the word. One of the biggest hurdles is the misconception that colon cancer is an old man’s disease, understanding that affects younger men and it affects women. At 28, I had the traditional symptoms of colon cancer: cramping and bleeding, I was lethargic and was losing weight. So I went for a checkup to figure out what was going on and, like many people who are young with symptoms, was misdiagnosed—first the traditional, “it’s just an ulcer” or stress-related. After a couple of months when my symptoms didn’t go away, I went back in. Finding out you have cancer at a young age is really like getting hit in the face.
I recently got genetically tested, and I tested positive for Lynch syndrome which runs in the family. The way I described it was it was like you’re about to jump into a pool and you know it’s going to be really cold when you jump in, but it’s still a shock. If you do the math, my great-grandfather had colon cancer, my grandfather and my father and uncle, so while that helps prepare me for the news that I had Lynch it’s still a very big eye-opener. Better safe than sorry–worst-case scenario is if I get tested is I can prepare better for the future, and best case scenario is I know I’m in the clear and don’t have to worry about anything. If I didn’t get tested really it just leaves everything in the air and this is a lot more unknowns. I had to deal with this, had to get tested and start taking cautionary steps to help prevent any cancer in the future.
I want you to know that I am grateful every single day of my life that I do not have cancer. However, I am writing this to let you know that for some women, having their ovaries removed is not a cakewalk. I was extremely unprepared and felt very alone —I am writing this so you feel neither.
My strong family history of early onset colorectal cancer prompted me to seek out genetic counseling and genetic testing, although I was healthy and cancer-free. At the age of 40, I tested positive for Lynch syndrome…