Research

Family Ties

When a genetic disorder left relative after relative with a heartbreaking cancer diagnosis, this patient launched a campaign to educate, inspire, and save lives.

Next March I will turn 32, the same age my sister was when she was diagnosed with uterine cancer. It’s also the same age my cousin was when he received a colon cancer diagnosis. My father’s brother died of pancreatic cancer at 54, and a year after he passed, my father, also 54, was diagnosed with advanced stomach cancer. But that is only a fourth of the total number of cancers diagnosed among members of my paternal family.

These diagnoses played a critical role in shaping my family’s journey, including mine, in being diagnosed with a hereditary cancer condition known as Lynch syndrome (LS). Although it took 14 years to receive this diagnosis, I appreciate the struggle our family endured in order to determine our genetic fate. Knowing that I have LS has propelled me to become a patient advocate for the condition, and I couldn’t be more grateful to be in a position to prevent and/or detect cancer early.

My dad, now a five-time cancer survivor, celebrated his 73rd birthday this summer. His doctors have called him a “miracle man,” and I couldn’t agree more. I am thankful for every day that he is still here, and I want to keep it that way for as long as I can. Knowing that we have LS, our family is able to take advantage of lifesaving preventive screenings that can improve outcomes and survival rates. Since our diagnosis with LS, I not only manage all of my care — I get annual screenings for six different cancers — but I am also extremely involved with my dad’s health and care. I manage his appointments with his many specialists, including an oncologist, gastroenterologist, urologist, and dermatologist, to ensure he is up-to-date with all of his preventive Screenings. Though these screenings can feel burdensome, we understand how important they are to Continuing to live a life free from cancer.

Despite our knowledge of our genetic mutation, dealing with Lynch syndrome still has its challenges. LS is not like a scratch that can be healed with a Band-Aid. It’s much more complex. Lynch syndrome is a cancer predisposition syndrome characterized by an increased lifetime risk for developing a host of cancers, most commonly colon cancer and endometrial (uterine) cancer, where the lifetime risk is up to 80 percent and up to 60 percent, respectively. Other cancers include stomach, pancreatic/biliary duct, urinary tract, small bowel, ovarian, brain, and skin cancers. Moreover, cancers caused by Lynch can occur at a young age.

Without question, this can be an overwhelming prospect and can lead to fear and denial. But knowing that you carry a genetic mutation can also be empowering. That is why I began pursuing genetic counseling and testing for my family and me. I was motivated to get to the bottom of my family’s cancer. I was tired of this disease ruling our lives, and I wanted to know if I, too, could be at risk. I thought if we could obtain that genetic confirmation, my family would be in a better place.

Our journey was long and at times frustrating. One of the main obstacles was lack of awareness and knowledge about hereditary cancer conditions among physicians. When the first few family members were diagnosed with cancer in the mid- to late ’90s, both doctors and my family assumed these diagnoses were simply the result of bad luck. Additionally, genetic testing for hereditary cancer syndromes was just getting started (i.e., BRCA testing for breast and ovarian cancer) and was not common practice yet. Furthermore, there were still limitations with genetic testing.

When the first few family members were diagnosed with cancer, both doctors and my family assumed these diagnoses were simply the result of bad luck.

It wasn’t until my sister was diagnosed with stage 3 colon cancer at 35 that it caught the attention of her oncologist. He knew that my sister’s two cancer diagnoses at young ages were not normal. My dad also had already survived stomach and colon cancer, which offered even more evidence that something was not right. It was 2002, and I remember the oncologist suggesting that the cancers could have been indicative of Lynch syndrome and that he was going to order a genetic test for my father and sister to confirm it. The test came back inconclusive, but the oncologist still recommended that our family at least get colonoscopies regularly. Those recommendations were not heeded, however, and by 2007 my family had received nine cancer diagnoses.

In 2007, after I heard that my aunt and her son were diagnosed with cancer, I knew that this wasn’t acceptable anymore. I sought the help of the Gastrointestinal Cancer Prevention Program at the University of California, San Francisco and learned that the genetic test done five years earlier had its limitations. The test was unable to detect complex mutations, like a deletion in a gene, which is what we had. My father was retested, and this time a mutation was found. This was the proof we needed in order to prevent more cancer in my family.

I started a campaign to educate my relatives about the condition and to make them aware that there were lifesaving preventive screenings if they tested positive. I sent them letters, my test results, and contact information of genetic counselors to help get them on their way. But despite that effort, there are still barriers. For some family members, it’s a lack of insurance or not knowing how to navigate the health system. For others, it’s fear or denial. And, unfortunately, there’s still a lack of awareness among health providers.

Inspired by my family’s struggle, I decided to pursue work in the hereditary cancer genetics field. I wanted to be a part of the solution — to educate providers and to be a support for other families, especially those who are underserved. Through this journey I have learned that it takes time, patience, and perseverance to continue to inform my family and even doctors about Lynch syndrome. Despite this, I can still be a positive example. Having LS is not a death sentence — it’s possible to live a cancer-free life if you’re dedicated to preventive screenings. I’ve also learned to never be afraid to speak up and to be an advocate for yourself and your family. I have become a stronger person. There is nothing I would change, not even my genes. I am grateful for every one of them.