When 27-year-old Selena Martinez was told she had Lynch syndrome — a genetic disease that can cause a host of cancers — she decided to turn bad news into something positive.
Since her diagnosis in May 2008, Martinez has run seven half marathons around the country and raised over $1,000. Her goal is to raise money for genetic counseling and testing for her family and other families with Lynch Syndrome who don't have adequate health insurance. She also hopes to increase awareness about Lynch syndrome, a disease that many people, including those affected, don't know about.
Lynch Syndrome, also known as Hereditary Non-polyposis Colorectal Cancer (HPNCC), puts a person at high risk for colon cancer. It may also increase a person's chance of developing cancer in the stomach, small intestines, pancreas, biliary ducts, brain and skin, among other locations. Women with the syndrome are also at a high risk of developing ovarian and endometrial cancer.
"When I was personally diagnosed it was at that moment that I wanted to do something positive for not only myself but for my family," says Martinez. "My family has just been through so much. I am more concerned with the rest of my family and how this would affect them. I was extremely worried about those members who don't have health insurance, including my three siblings."
Within a 16-year period, there have been 13 cancer diagnoses among nine people in Martinez's large family who reside in Selma, Calif. and throughout Texas. That averages to about one cancer diagnosis almost every year. There were already three cancer diagnoses in 2010 alone, where her aunt is currently battling colon cancer. Her father Nazario suffered from gastric, colon cancer and most recently sebaceous carcinoma and the only one thus far to survive all three cancers; her sister was diagnosed with endometrial cancer at the age of 32 and colon cancer at the age of 35. Several cousins were diagnosed with colon cancer in their early forties. In addition, the family has lost two uncles and one aunt to the disease.
But it wasn't until 2008 that the Martinez family received a conclusive diagnosis of Lynch Syndrome, thanks to Martinez's determination to solve her family's cancer mystery. In 2002, her father and sister were tested but the results were inconclusive because of technology limitations.
A graduate in cellular biology from the University of California, Davis, Martinez landed a job in the UCSF Department of Cellular Molecular Pharmacology in 2007. Later that summer she visited Amie Blanco, a genetic counsellor at UCSF's Cancer Risk Program, who suggested her family be tested again for Lynch Syndrome. Martinez's father's blood and body tissue, along with samples of his previously removed cancerous tumors, underwent a series of genetic and molecular tests at UCSF.
Test results indicated that Martinez's father had a large deletion of one of the genes that help repair mistakes made during DNA replication. Mutations or variations in certain genes are believed to increase the risk of developing Lynch Syndrome.
Armed with this information, Martinez is making it a priority to inform her large extended family about the risks and their options. She has even traveled to Texas to inform members about their cancer risk. While not every member agreed to be tested just yet, afraid of how they would handle the bad news, Martinez thinks of it as an opportunity to reconnect with family.
Selena remains positive and is making proactive choices to continue being cancer-free. Every year she undergoes stringent screening tests for the cancers associated with LS, with the most important one being the colonoscopy.
"I am positive about the whole situation and not allowing the strong possibility of a cancer diagnosis dictate how I live my life," says Martinez. "And though it is stressful sometimes that I have to have these 'uncomfortable' screenings for the rest of my life, it is totally worth it because it is better than the alternative."
In addition to running half-marathons in honor of each family member with a cancer diagnosis, Martinez was accepted into a prestigious film workshop based in San Francisco earlier this year to make a short documentary film about her family's diagnosis with LS. She hopes to finish editing the film soon so it can debut at their annual film festival. It will be entitled: We are Lynch Syndrome: The Martinez Family continued battle with cancer.
Very recently she teamed up with the efforts of Lynch Syndrome International (LSI), the first 501(c) non-profit for Lynch Syndrome. They are promoting awareness about the disease, genetic counselling and testing services and raise funds for important services to help LS families.
"Our goal is to raise $2,000,000," says Martinez. "It’s a large and somewhat intimidating amount, but the passion of those involved with LSI, anything is possible. LSI is making tremendous headway in spreading Lynch Syndrome around the globe and saving families in the process. I plan on helping LSI with spreading awareness in the Bay Area and hope reach out to the Latino Community. A community that is very important to me. Latinos as well as other minorities are hit the hardest due to a lack of resources and other socio-economic disadvantages."
"I want to make a difference in the lives of those with Lynch Syndrome!" adds Martinez. "And hopefully with the advancement in technologies the nature of the screenings will improve. I have an opportunity to beat cancer because I have the resources and advantages that family members before me didn't have. And for that, I am very fortunate and hope to encourage my own family and other families to adopt the same attitude."
Abby Sinnott is a freelance writer in London.
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