Staying One Step Ahead of Lynch Syndrome

• Laura Simonetti, a Lynch Syndrome patient, explains the importance of proactive screening and keeping a positive attitude.

  I have a very strong family history of cancer. My father passed away in 2008 and had colon cancer three times. My aunt had cervical and colon cancer, my grandfather had colon cancer in his 50’s and my great uncle had “colon issues.” After my dad’s third diagnosis of colon cancer, a nurse suggested genetic counseling and testing because of my strong family history.

  I met with a genetic counselor and learned about Lynch Syndrome. My father tested positive for one of the Lynch genes (which can cause cancer). I also tested positive for that same gene. I shared this information with my aunt and brother. My aunt tested positive for that same Lynch gene but my brother chose not to test. At this point, four family members have tested; three are positive. One of my cousins tested negative and one has yet to be tested.

  Arriving at the Risk Assessment Program at Fox Chase

  My aunt already had been treated at Fox Chase Cancer Center. I met with Christina Rybak, genetic counselor, and Dr. Michael Hall. They provided me with information explaining Lynch syndrome and medical management recommendations. I wanted to come to a place where the staff was experienced and knowledgeable about Lynch Syndrome.

  The most challenging part of having Lynch Syndrome

  I worry that I would pass this gene on to my daughter. There is a 50/50 chance that people who have Lynch Syndrome pass it on to their children, male or female. Although she is young, I try to very simply explain when and why I have tests and I take her with me to my appointments. I understand that when she is an adult, she will decide if she wants to be tested for Lynch Syndrome. It was recommended that I have a hysterectomy because of my high risk for endometrial cancers. It is a difficult decision that I struggle with, but I try not to dwell on it. I would rather know about this mutation so I can deal with it, and, if cancer is found, I hope and pray that it will be detected early. It is very important for anyone with Lynch Syndrome to be his or her own advocate.

  Sharing my experience with others

  The majority of people with Lynch syndrome do not know they have it. I want to educate people, explain about screening, and get the word out. Having this information saved my aunt’s life. I’ve learned how to share this information with people. Patient advocacy is somewhat new for me, but I want to do all that I can to encourage others who have a similar family history to get tested.

  I tell others to get familiar with your family history and risk for cancer. If you see a lot of cancer in your family, talk to a specialist. Get informed and be your own advocate!