Hyperinsulinism / Hyperammonemia Syndrome: Katelyn's Story

Katelyn does everything a typical 17-year-old would do: Plays alto sax in her high school marching band, hangs out with her friends and visits college campuses in preparation for her future.

She also does some things a typical 17-year-old doesn’t do: Tests her blood glucose level up to 10 times a day, takes daily medication, is careful about every bite she eats and participates in clinical trials for hyperinsulinism/hyperammonemia (HI/HA) syndrome, a disease she’s had all her life.

“I always carb load at the start of every meal,” says Katelyn, who lives in Hillsborough, NJ. “I eat the pasta or rice first, or mashed potatoes, then the chicken. When I was at CHOP for tests, we tried the random order of foods and found this worked the best.”

Giving back by participating in research

katelynKatelyn’s 15-year-old sister, Colleen, and their father, Jeff, also have HI/HA. The trio serves as a genetic resource for researchers at The Children's Hospital of Philadelphia (CHOP).

When Colleen was born, her cord blood was analyzed and helped researchers identify the genes involved with HI/HA. Recently, Katelyn and Jeff anticipated in a short-term trial of an experimental drug to treat HA.

“I like to participate in research,” Katelyn says. “If it can help find answers — or help other families — I’m happy to do it.”

Her mother, Randy, sees helping out with research as a way to pay back Children’s Hospital for all it has given her family.

“We’ve chosen to help in any way we can because CHOP has helped us in such a tremendous way,” Randy says.


Originally posted: December 2013