Conner's story: sharing family history and genetic testing lead to better health for young boy and his father

Research

Conner’s story: sharing family history and genetic testing lead to better health for young boy and his father

By
Mayo Clinic Staff

November 21, 2017

Conner Jones and his parents Jeff and Suzanne

National Family Health History Day is on Thanksgiving, Thursday, November 23. While you enjoy time with your family during the holiday, it can also be a good time to learn about your family’s medical history. It could improve your health or detect conditions that run in the family.

That was the case for Jeff and Suzanne Jones almost four years ago. They were searching for treatment for their two-and- a-half year old son Conner, who was having diarrhea and severe stomach cramps. After hearing about Conner’s problem, Jeff’s grandmother shared that she had similar problems as a child. She urged her grandson and his family to turn to Mayo Clinic for answers.

At Mayo, Conner was diagnosed with ulcerative colitis, an inflammatory bowel disease that causes inflammation and ulcers (sores) in the digestive tract. He and his parents had genomic testing to look for an underlying genetic cause of his disease or other inherited gastrointestinal conditions that could be affecting his health. This approach is part of the clinical practice of the Individualized Medicine Clinic services at Mayo Clinic’s Rochester Campus.

“Through genetic testing, we discovered incidentally that Conner and his father both carried the genetic variant for Lynch syndrome, an inherited condition that increases a person’s risk for developing colon cancer and other cancers. Patients with ulcerative colitis have a lifetime risk of colon cancer of about 25 percent, while patients with Lynch syndrome have a lifetime risk of colon cancer of about 65 percent," says Michael Stephens, M.D., a pediatric gastroenterologist in Mayo Clinic's Inflammatory Bowel Disease Center for Children.

"These results helped guide our therapeutic management decision to remove Conner’s colon for both curing his intestinal disease and for preventing the development of colon cancer in the future. His recovery has been remarkable. Just as important, they also provided important health information for his father, who was unaware of his high risk of colon cancer.”

A potentially lifesaving discovery

As a result of the incidental learning that he also carried the genetic variant for Lynch Syndrome, Conner’s father Jeff had a colonoscopy, a test to screen for colon cancer. Just like Conner, Jeff has a higher risk for developing colon cancer at an earlier age, compared to those without Lynch syndrome.

The colonoscopy revealed that Jeff had colon polyps, which are small clumps of cells that form on the lining of the colon. Most colon polyps are harmless. But over time, some colon polyps can develop into colon cancer, which can be fatal if not found in its early stages.

Jeff’s polyps were removed and showed no signs of cancer. Thanks to his grandmother who shared her health history and genetic testing at Mayo, Jeff will now receive regular screening for colon cancer, an important step for maintaining his health.

Watch a video on Connor’s story that was shared at Individualizing Medicine Conference 2017: Advancing Care Through Genomics, a conference hosted by the Mayo Clinic Center for Individualized Medicine.

Your family’s health history – questions to ask

To learn more about what questions you can ask your family to help you manage your own health, see our blog Know the Facts: Learn Your Family Medical History to Improve Your Health.

Join the conversation

For more information on the Mayo Clinic Center for Individualized Medicine, visit our blog, Facebook, LinkedIn or Twitter at @MayoClinicCIM.

See highlights from our recent Individualizing Medicine Conference 2017: Advancing Care Through Genomics: