“Undiagnosed Day” highlighted in Utah for the first time

Posted at 7:40 PM, Apr 29, 2016
and last updated 2016-04-29 21:40:46-04

SALT LAKE CITY – Gov. Gary Herbert declared April 29 Undiagnosed Day. For dozens of Utah families, it’s a constant struggle when doctors can’t pinpoint the cause of a medical condition and how to treat it.

Gina Szajnuk is the proud mother of 8-year-old Ava, 6-year-old Oskar, and 4-year-old Lucy. They’re usually all smiles, but on most days they’re in a lot of pain.

“It's living in the unknown every day," she said. "We have temperature intolerance, food digestion, everything that your body does naturally, we're just not doing that correctly. It's just off.”

Before moving to Utah in 2013 when her husband, Justin Zanik, was hired as the assistant general manager for the Utah Jazz, Gina searched the country for answers.

“We've gone through the diagnostic odyssey for about five years now,” Szajnuk said. “We've been to four states, seven hospitals, and over 50 specialists to try and figure out what is wrong with the three of them.”

Going through the emotional, physical, and financial challenges, Gina wanted to help families experiencing similar hardships, so she created the Rare and Undiagnosed Network (RUN).

“There's a lot of times you try to sign up for an organization and you can't because you don't have a diagnosis” Szajnuk said.

Dr. John Carey is a professor of Pediatrics at the University of Utah and a geneticist who has treated Gina’s family.

“We're handcuffed, and we're limited in how we can give them better direction or better blueprint," he said.

Carey says genome sequencing may offer some clues.

“We may not find an answer, but the data is in the machine, and it will continue to search for answers as the years go on, so we'll see what happens," he said.

For more information about the Rare and Undiagnosed Network (RUN), click here.