The Value of Knowing: Sisters, Drema and Sheila’s Genetic Testing Journey

Finding out you have cancer is frightening enough. Finding out someone you love might have it, too, may be even more so. That’s the heartbreak Drema McCormick faced in 2020 after she was diagnosed with colon cancer.

Finding out you have cancer is frightening enough. Finding out someone you love might have it, too, may be even more so. That’s the heartbreak Drema McCormick faced in 2020 after she was diagnosed with colon cancer.

Following her cancer surgery, Drema’s surgeon, Dr. Fernando Aguila, submitted a standard tissue sample to the genetic facility for review. Drema got a call from Mount Carmel Genetic Counselor Kristy Nguyen not long after that. Nguyen let her know what they’d discovered: she had something called Lynch syndrome, a gene mutation that’s the most common cause of hereditary colorectal cancer.

In addition to colon cancer, people with Lynch syndrome are more likely to get uterine, stomach, liver, kidney, brain, and certain skin cancers. And they’re more likely to get them at a younger age. After explaining the syndrome and the risks it presented, Nguyen immediately suggested Drema let her siblings know and recommended they be tested, too. 

“Kristy not only shared some detailed educational materials with us, she made the arrangements for, my sister, Sheila and her two children to be tested,” Drema said. “My daughter got tested, too, and so did our sisters Shelly and Debbie.”

The testing itself is simple and non-invasive. Most of Drema’s family received a test kit or received a cheek swab at their doctor's office, with the kits being sent on to the genetic facility.

“All of us tested positive for the MSH6 gene mutation,” said Sheila. “Shelly's daughter was tested and thankfully was not positive. But Debbie’s oldest daughter had been diagnosed a couple years earlier with endometrial cancer and Lynch syndrome. Unfortunately, she hadn’t received genetic counseling and didn’t understand how important it is to share the diagnosis with your family.” 

That knowledge could have made a big difference. And for many of Drema and Sheila’s family members, the knowledge they have now has. 

“As surprised as we were by the initial diagnosis, it’s helped us understand why some family members have already experienced a cancer diagnosis,” Drema added. “In 2009, Sheila was diagnosed with uterine cancer at the age of 53. In 2006, our oldest brother, Roger was diagnosed with kidney cancer at the age of 58 after receiving treatment and testing from a back injury.”

The good news is, the awareness they’ve gained through genetic counseling and testing is allowing them to have more informed and hopefully healthier futures.

“The diagnosis has allowed us to seek and receive more frequent preventative testing,” she concluded. “Our primary physicians are better equipped to monitor our health and provide early intervention should our health status change. Our family members are also better educated and more aware of the health risks. This enables them to monitor their own health and seek medical tests and treatment for signs and symptoms early when and if they experience a change in their health.”

They’re forever grateful, too.

“We are extremely grateful that Mount Carmel and, specifically, Kristy, who understood the potential seriousness of MSH6 and communicated it so quickly to Drema,” Sheila said. “She worked with our family members who live in Ohio as well as those who live in Nevada and California to ensure they had access to the necessary tests. Kristy also worked with our insurance companies to ensure coverage was provided. Her professionalism, concern, and compassion were above and beyond. We could not have asked for more. Kristy was a true champion and advocate for us.”

And when it comes to our families and our health, a champion is something we all could use. To learn more about genetic counseling visit  Genetics, Mount Carmel Health, Columbus, OH