By Selena Martinez
For an individual who is receiving a test result for an inherited condition there may be a million
things going through his/her mind. I have been in the hot seat and can remember thinking, “Why me?” “Are those results correct?” “How is this going to affect my life and my family?” “Is my life over?” It can be an overwhelming and anxiety inducing experience, but with the support of my genetic counselors I felt that I was in good hands. At the same time, I can’t help but feel that I had been prepared for that moment for most of my life and was relieved that I finally knew. Although I was diagnosed with Lynch Syndrome at 25, my life was not over; I was instead welcoming the beginning of profound change in my life.
Lynch syndrome (LS) is a cancer predisposition syndrome characterized by an increased lifetime risk for colon cancer, endometrial cancer, and other cancers. My experience with LS was profound because I was the first family member to utilize the genetic testmresults from my father, Nazarío. I had helped him pursue genetic testing previously given his own history of multiple cancers. We now had the answer to why our family had been incessantly struck down by cancer. I pursued genetic counseling and testing for myself at UCSF, and encouraged my family members as well, in hopes that this would be the vital intervention we desperately needed in order to prevent future cancers. For those with a positive diagnosis of LS, there was empowerment through adherence to a series of rigorous annual screenings and options for risk reducing surgery; for others, there was comfort in knowing they had not inherited the gene mutation. I thought everybody would embrace this information as a wake-up call for change and the possibility of life without cancer or at least an opportunity for early detection. But my urging fell on deaf ears. It seemed like I was the only one recognizing the impact of this diagnosis and pondering our new genetic destiny.
I decided to take a proactive approach not only for myself, but as a positive example for family members unsure about how to handle this familial disease. To me it was clear what had to be done: continue encouraging my family to speak with a genetic coun- selor about genetic testing and cancer screening. I was tired of cancer reigning our lives. I had seen so many family members diagnosed with cancer, including my father, my sister, an aunt, uncles, and several cousins, some caught early and others too late. Since I was 12, I thought a future with cancer might be inevitable, but now I had the opportunity to prevent cancer; an opportunity family members before me did not have. This is something I am extraordinarily grateful for.
I have learned that not every family member will embrace this information the way I have; I have also learned that it takes time, patience, and perseverance to continue to inform my family about Lynch syndrome. While I cannot make anyone do anything, I can be a positive example. I have been extremely devoted to my yearly regimen of screening for cancer, especially the colonoscopy. It has been three years since I was diagnosed with LS, and I have not missed an exam yet. Although I am not a big fan of these uncomfortable screenings, I am optimistic about their outcomes. My attitude towards my everyday health has changed; I am more aware of my body and if something does not feel right, I see one of my many specialists right away. I do not let persistent problems just “go away on their own” anymore. I have also been making healthier choices, like running (half marathons), eating right and being more cautious of environmental elements.
In all honesty, living with Lynch syndrome can be stressful at times, but it is certainly better than being diagnosed with cancer. Having seen what my family has endured (especially my father) has made me a stronger person and I feel that I can handle anything. I never want the strong possibility of a cancer diagnosis to dictate how I live my life. Knowing that I have Lynch syndrome at a young age will help prepare me for the future and planning for children, especially since I will have to consider early risk reducing surgery to remove my reproductive organs, something I feel that I’ll be ready for when the times comes.
Embarking on this journey and inspiring change, both in myself and others, I truly feel that my life has a new beginning. Right now I am cancer free and I have an opportunity to beat cancer because I am empowered and I am in control!
Ms. Martinez is followed by the UCSF Cancer Risk Program. She does genetics research in the lab of Joseph Shieh, MD, PhD at the UCSF Department of Pediatrics.