As told to Erica Rimlinger
Families share a lot of things. Memories. Homes. Joy. Pain. In our family, we share one more thing: a genetic mutation that increases the risk for several kinds of cancer.
My mother’s family always had cancer running through it, and my grandmother fought many types of cancer over four decades — but the alarm bells first sounded in our family in 2010, when my 22-year-old cousin was diagnosed with stage 3 colorectal cancer. This type of cancer doesn’t happen often in young people, the doctors said. There had to be a genetic trigger. A genetic blood test found the smoking gun: My cousin has a condition known as Lynch syndrome, which is caused by a genetic mutation and is estimated to affect 1 in 300 people. And that meant I could have it, too.
Is it better to know or not to know that your genetic legacy may include a mutation that increases your risk for getting cancer? After my cousin’s diagnosis, everyone in the family, including me, had to answer this question for themselves. In my case, I talked to my primary care provider, and since Lynch syndrome is mostly known for increasing the risk of colorectal cancer, we agreed that colonoscopies every two years would be a good idea.
I put off the genetic testing because, at that point, my mother had never had cancer and the chance of my grandmother passing the gene to her was 50-50. (My mother developed cancer later in life, in her mid-80s, and recently passed away.) My mother’s brother, on the other hand, developed colon cancer, as did his son and grandson. It was possible, I thought optimistically, that our branch of the family might not have the gene.
In 2015, I broke my shoulder skiing and was forced to set aside my busy work schedule for a bit. The break allowed me to catch up with a friend over coffee on a cold spring morning.
We talked about kids and work, and I casually mentioned some spotting and unusual bleeding I was having. I was certain these were just symptoms that signaled I was getting close to menopause but my friend stopped me. “The spotting and bleeding you’re describing — you need to get that checked out by your doctor.”
I went in the next day. My doctor’s knowledge of my family history with Lynch syndrome proved a blessing: My medical team recognized the risk I wasn’t aware of — that Lynch syndrome can increase your risk of gynecological cancers — and leapt into action. I was diagnosed with endometrial cancer on May 29, 2015, and emerged from surgery (a full hysterectomy) at the Mayo Clinic just over two weeks later. My cancer was found to be stage 1A. Because the cancer was caught so early, no chemotherapy or radiation was needed, and I was declared cancer-free.
At the same time I was being diagnosed with cancer, a genetic blood test found that I did carry a Lynch syndrome mutation. I dreaded getting the news. But I learned quickly the good news about having an inherited condition is that our family is in this together. Nobody wants to get cancer, of course, but in some ways, going through it as a family can be strengthening.
Kristen, with her son Ian, 2019
We can watch out for each other and hold one another accountable for our recommended annual screenings, which go well beyond colonoscopies. These screenings are tailored to our specific risk factors, so for me, they include an annual exam with a gynecological oncologist and bloodwork that includes a screening test for gynecological cancers.
The odds of stage 1A endometrial cancer coming back are very low, but because of my Lynch syndrome, doctors follow me very closely. For three years, I went back to the Mayo Clinic every four to six months for a battery of tests. The first three years, I felt like I was walking on eggshells. I wondered: Am I doomed to get cancer every few years like my grandmother? Now, seven years out, I return just once a year for annual screenings with a team of doctors including a geneticist, a gastroenterologist, a dermatologist and a gynecological oncologist.
When it comes to cancer treatments, there’s so much hope with new drugs and treatment guidelines continually being developed. Knowing my past, present and future risk for genetic cancers has made me healthier overall. I can’t control my genes, but I can control other risk factors, like what I eat, how much I sleep and how much I work out. I choose empowerment rather than powerlessness. And becoming an advocate for women’s cancers is part of this. I raise money and awareness by participating in runs for women’s cancer nonprofits, and I mentor women who are newly diagnosed with endometrial cancer. Gynecological cancers are still often spoken about in hushed tones. Because of this, I choose to speak up. By helping other women, I empower myself.
This resource was created with funding and support from Eisai Inc.