11 May My Lynch Story is Rare and Unique
My Lynch story is rare and unique. In October 2011, I was 45 years old an avid runner and cyclist and in the best shape of my life. I woke up one morning with severe pain that led me on a life-changing course. A large ovarian mass was discovered and needed immediate surgical intervention. Knowing a straight forward hysterectomy is a two hour surgery, I woke up in the recovery room several hours later. My surgery was not as I hoped and I realized I was in really big trouble. My surgeon informed me that I had two aggressive cancers, ovarian and uterine which suggested they could be hereditary cancers. I would need chemo, radiation and a genetic counselor.
A few weeks later in my surgeon’s office I saw two posters on the wall. The first poster’s title: BRCA Gene and had an illustration of a woman and it stated “ if you carry the BRCA gene you are at risk of developing the following cancers”. A red dot was on the breast and the ovary to signify cancers. The next poster’s title: Lynch Syndrome; the illustrated woman had red dots on the brain, stomach, pancreas, liver, gall bladder, kidneys, ureters, bladder, small intestine, large intestine, ovaries, uterus and skin. I stared at that poster in fear! I started chemo and a few weeks later met with my genetic counselor. She took a very detailed family history noting that my maternal grandmother died of colon cancer and a maternal aunt died of uterine cancer. Blood work was drawn and the long wait for results began.
Months later, as the last dose of chemotherapy was administered I was about to reclaim my life and was thrilled to be putting this “phase” behind me, never wanting to think about cancer again! Unfortunately, that is the day I was told my blood work revealed a mutation on the MLH1 gene; I had Lynch Syndrome. My fears had come true. I was now that woman on the poster with all the red dots. The next immediate concern was informing my sisters and cousins of my diagnosis. If I had Lynch there was a 50% chance my sisters and cousins potentially inherited it as well. Everyone was tested, and for the first time in 8 months, good news, all were negative! Lynch is a hereditary syndrome, someone else should have tested positive which did not make sense. My parents were tested and were also negative. This is where my story takes a unique turn. I am De Novo, my DNA mutated for reasons unknown and I am the first person in my family to have Lynch, it starts with me. It is extremely rare but can happen, however 99% of the time you inherit Lynch from your mother or father.
The focus for my family quickly shifted to the children, 19 and 20 at the time. We struggled with what age to test them, not wanting to burden them with such a serious issue as they were adapting to college life. The potential impact on future jobs, relationships and eventually their own children all had to be considered. After consulting with physicians, genetic counselors and the children we agreed to delay testing a few years. Not entirely comfortable with this decision our family moved forward until, a few months later, our son had episodes of rectal bleeding. His colonoscopy revealed precancerous polyps.
At this point holding off on Lynch testing was no longer an option. Both children were tested and both were positive. No mother wants to ever harm her children and I had passed on this mutated and potentially destructive gene. My family would not allow me to feel responsible; instead we focus on finding a way for the 3 of us to live with Lynch. With constant vigilance, surveillance and new medical technologies we will prevail, not Lynch. My children joke that Lynch impacts them only one day a year: the day before their colonoscopies, which is “terrible”. We are living with Lynch as a family and realize
together we can get through anything. My physician told me that my cancer saved my children’s lives. If I hadn’t gotten cancer and the Lynch testing, my son may not have reported his rectal bleeding and he could have had an entirely different outcome. Lynch awareness saved his life.