Skip to Main Content

Karen: Genetic Testing

Dedicated to tomorrow's changes

When I was pregnant with my second child I developed abdominal pain that everyone assumed was related to my pregnancy. But the pain persisted several months after I gave birth to my son and my doctor ordered a full work-up, during which I was eventually diagnosed with colon cancer. My surgeon wanted to operate immediately and I had to wean my son within days so I could undergo surgery and chemotherapy. At the time of this diagnosis I was only 30 years old and had a newborn son, a 4-year old daughter, and my husband and I were in the midst of selling our home in California to move back to Connecticut. It was a crazy time but I made it through it with the help of my husband and family.

Thirteen years later I casually mentioned to a friend that my pants felt tight around my waist and that maybe I needed to lose some weight. The bloated feeling continued, and I called my gastroenterologist who sent me to the Emergency Room for a work-up. Much to everyone’s surprise, a mass was seen on my left ovary and I was admitted to the hospital. I eventually had a total hysterectomy and was diagnosed with Stage I ovarian cancer at age 43. It appeared that my bloating was the result of an ovarian cyst that burst, and the ovarian cancer was an incidental finding that we were lucky to have found at an early stage. I had chemotherapy again and my prognosis was excellent.

However, I was left with the nagging question, “Why is this happening?” Two different cancers at such young ages in someone who is very health conscious did not make sense to me. My background as a nurse and my inquisitive nature led me on a quest for answers. The Human Genome Project was in the news and inspired me to find the Yale Cancer Center Genetic Counseling Program. I pursued genetic counseling and testing and learned that I carry a mutation in a gene called MLH1, which causes Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch syndrome. Men and women with a mutation in this gene are at high risk to develop colon cancer, often at younger ages. Women in these families are also at increased risk to develop ovarian and uterine cancers. I finally had an answer and it gave me back some control over my life. Now the reins were in my hands and we were able to develop a unified plan for my future management and for our family. My daughter tested negative for the mutation, but my son is a carrier. He is being followed carefully with colonoscopies and we will use every cutting-edge breakthrough possible to reduce the risk that he will ever develop cancer.

I would tell anyone considering genetic counseling and testing that knowledge is power. Use this information to give yourself the upper hand.