I Have Lynch Syndrome

Most people have heard of the BRCA genetic mutations that predisposes its owners to breast and ovarian cancers, especially after Angelina Jolie disclosed she carried the gene in 2013.

Fewer people are familiar with Lynch Syndrome, which causes a predisposition to a number of cancers — primarily in the abdominal region — and is comprised of mutations to a handful of genes that mostly start with or contain the letter “M”, like MLH1, MSH2, MSH6, as well as PMS2 and EPCAM. These genes are involved in a process called mismatch repair. According to the Dana Farber Cancer Institute, they “act like spellcheckers to find and correct the “typos” made in the gene copying process.” When the typos don’t get fixed, the mistakes can replicate and accumulate more and over time this can cause cancer.

Growing up, my father was diagnosed with cancer several times, and we just assumed he was very unlucky. But then, in 2003, I was diagnosed with colon cancer at an unexpectedly early age. After a surgery removing half of my colon, the doctors sent my tumor to a genetics lab where they discovered a MSH2 mutation. Then they tested my father’s blood, and found the same mutation. That’s when we learned we both had “hereditary non-polyposis colorectal cancer (HNPCC),” also known as Lynch Syndrome. Depending on which genes are affected, people with Lynch Syndrome have a higher risk than the general population of getting certain cancers:

General populationLynch syndrome (MSH2)
Biliary tract0.20%Up to 1.7%
Small bowel0.30%1.1-10%
These are statistics for MSH2, which pertains to me. I took it from this more complete chart by the Jackson Laboratory.

After my first diagnosis, I made lifestyle changes to improve the risk factors that I could control. I stopped drinking alcohol, eliminated or cut down on meat and sugar while increasing my vegetable intake, re-committed to yoga and meditated to keep my cortisol levels down. Maintaining this lifestyle while returning to grad school wasn’t always easy, especially in Los Angeles, where socializing and networking is “part of the job.” When I graduated from Screenwriting school in 2011, I got an offer to be a writers PA on a television show where I’d been interning—a dream scenario, except the job didn’t have health insurance, and pre-ACA, there was no individual coverage for someone with my history. It was hard to pass up that job, and I’ve often wondered how different my career might be now if I had been able to take it…

But I made the practical choice, and, as it happened, having health insurance soon came in handy. In 2012 I was diagnosed with endometrial cancer and my uterus was removed.

Then, after was nine fairly peaceful years, last October (2021), a scan revealed colon cancer. Again.
It felt kind of like getting struck by lightening twice. What are the chances? Turns out, with Lynch Syndrome, they’re pretty high.

Estimates say that about a million people in the United States have Lynch, but that 95% of them don’t know their status. If you have questions about Lynch Syndrome, you can check out the websites of advocacy groups like Lynch Syndrome International, AliveAndKickn.org and FORCE. They are a good source of information as well as encouragement. Many people with Lynch live long and full lives!

(This is a kind of nuts-and-bolts rundown. If you’d like to read a longer essay with more personal and philosophical thoughts, you can check out something I wrote for The Colorado Review awhile back called “Luck, Statistics, Magic.”)