Profiles in health: Selena Martinez and the lineage of Lynch syndrome
When you chat with Selena Martinez, she seems like your average 27-year-old: she’s cheerful, poised, close to her family and friends and moving up in her career. But she’s not average – not by a long shot.
When Selena was 11 years old, her uncle died of pancreatic cancer. When she was 12, her father was diagnosed with gastric cancer but survived by having his stomach removed. When she was 16 her father was diagnosed again, this time with colon cancer. When she was 17, her older sister was diagnosed with endometrial cancer. When she was 19, the same sister was diagnosed with colon cancer, just like their father. And this August, her aunt was diagnosed with advanced colon cancer.
That list covers less than half the number of cancer diagnoses that have hit Selena’s paternal family over the past 16 years. But it wasn’t until her sister’s second diagnosis in 2002 that someone started to think it might be more than just bad luck.
“At that time, we weren’t really familiar with genetic testing or counseling at all, so the oncologist ordered a screening for Lynch syndrome,” Selena remembers. Lynch syndrome is a rare, inherited condition that increases the risk of several types of cancer – mainly colon cancer and in women, endometrial cancer – often at earlier ages than normal. In 2002, the medical field had been aware of the syndrome for nearly 40 years, but genetic testing technology hadn’t progressed enough to give the Martinez family conclusive results. It took six years of advancements before genetic counselors were able to deliver a positive test result for Selena’s father. By then, there had been four more cancer diagnoses in the family.
“And [the genetic counselor] said, ‘When do you want to come in too, for your appointment?’”
For seven years Selena had been learning about and coping with her family’s condition. She’d seen her father through genetic testing and drew inspiration from his courage, but she still wasn’t fully prepared for the emotional weeks between her screening and the final result. “I was very anxious: Why is it taking so long? What’s going on?” she recalls.
In the case of Lynch syndrome, if one parent carries the gene mutation, there’s a 50% chance that it will be passed on to each child. It was passed on to Selena’s dad and five of his eight siblings. It was passed on to her sister.
And it was passed on to Selena.
Living with Lynch syndrome
Initially, the positive test result kept Selena up at night. It wasn’t that she didn’t know how to handle the condition – she was blessed with an excellent genetic counselor who helped her plan for the future. But she had to rethink the way she was living her life. And the results were dramatic.
“In a way, maybe it was a blessing in disguise … Before I tested positive, I wasn't too sure what career I wanted to pursue,” she wrote in an email. “But, since my involvement, I really want to pursue a career in genetic counseling/public health.”
These days, when Selena’s not researching with UCSF’s Institute for Human Genetics she’s busy educating her family and others about Lynch syndrome. But her appeals to her family members to get tested aren’t always successful.
“It’s an issue of being afraid of a positive test result,” she says. “They tell me that they’re not ready yet, that they’ll still think about it. Or others are resistant, due to fear, to certain preventive screenings.”
Her family’s fear isn’t just personal – it’s also financial. The Genetic Information Non-Discrimination Act (GINA 2008) provides protection from discrimination by insurance companies and employers, but inadequate insurance coverage means cost is still a barrier. That obstacle contributed to Selena’s aunt’s delayed decision to get tested.
“I encouraged her to get tested, but she was not ready, and at the time that was the best decision for her. But, then in August she was diagnosed with advanced colon cancer. It was heartbreaking, but I think this diagnosis along with the two others this year has given the family a little push that they should not wait any longer,” she explained.
Selena eventually convinced her brother to complete the testing process. The results came out negative.
Less than 5% of the 600,000 estimated mutation carriers in the U.S. have been diagnosed with Lynch syndrome, often due to fear of a positive test result. In Selena’s experience, however, the main reason that number is so low is because of a lack of awareness about the disease. “When I’m out educating people about Lynch syndrome, I usually get blank stares,” she says. And many families are like Selena’s –the syndrome often isn’t properly diagnosed until there have been several instances of cancer in the family.
“Physicians are not picking up on the red flags, and that needs to change,” Selena says. She says patients should always be up to date on their family histories, but it’s the physician’s responsibility to ask the right questions and refer patients to a genetic counselor if necessary. “Without my genetic counselors Amie Blanco, Peggy Conrad and Dr. Dawn Delozier, I don’t know where I or my family would be,” she says.
Today, Selena has an 80% risk of developing colon cancer and a 40-60% risk of developing endometrial cancer. So as summer turns to fall, she begins her annual battery of preventive screenings. Right now she gets checked for six cancers every year: colon endometrial, ovarian, stomach, skin and upper urinary tract cancers. In 2013, when she turns 30, she’ll have to start getting regular MRI’s – screenings she’ll have to undergo for the rest of her life. But it doesn’t get her down.
“I’m confident that I am going to live cancer-free, or at least catch it early because I’m dedicated to following all the recommend screenings … I sometimes think this has made me a better person. It’s helped me define myself – what my purpose is in life, what I’m passionate about,” she reflects. “Not that it was a good thing, but it made me a little bit more focused, I guess.”
One thing she’s focused on these days is her work as an advocate for Lynch syndrome awareness. In 2008 she founded Detect the Mutation, a nonprofit dedicated to spreading awareness about the condition. The organization has since folded due to time constraints, but Selena recently joined with Lynch Syndrome International to promote genetic counseling and testing services and to raise funds for low-income/minority Lynch syndrome families.
And when it comes to her own family, Selena’s hit the ground running – literally. Since 2008 she’s been running marathons in honor of each of her nine family members with cancer. The last half-marathon she ran was in May 2010 for her cousin; she currently has two more to run, one for another cousin and one for her recently diagnosed aunt.
Through it all, Selena finds inspiration in her father’s words. “Like my dad said: ‘You can’t be afraid of the cancer. You just have to accept it and live your life.’”
Selena Martinez is currently working on a documentary film about her family that will be debuting soon. Support her and the campaign to raise awareness about Lynch syndrome by visiting Lynch Syndrome International at www.lynchcancers.com.