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Utahns raise awareness for rare, undiagnosed diseases

Posted at 10:10 PM, Apr 28, 2018
and last updated 2018-04-29 00:20:29-04

SALT LAKE CITY -- About six million people in America are sitting in a doctor's office without a diagnosis, and another 30 million have been diagnosed with a rare disease.

To help raise awareness, local families suffering from rare, undiagnosed diseases explained their struggle to the next generation of doctors at the University of Utah School of Medicine.

Gina Szajnuk and Shauna Bingham share the same struggle.

“We can't fix them. We don't know what it is," Szajnuk said.

All of the sudden, something is wrong with their once healthy child.

“I didn't know anything was wrong with Ava until at three years old we discovered a mass in her brain,” Szajnuk said.

“Around 9 months I noticed he was crawling but his limbs were giving out,” Bingham said.

However, when they go to the doctor to find answers, they come home without them.

“We got test after test and we couldn't really find a diagnosis,” Bingham said.

“We've been to eight institutions in five states in the last five years and we've seen over 100 specialists and we still don't have a diagnosis, a treatment or a cure,” Szajnuk said.

Their physical symptoms are different, but the diagnosis is the same: There is none. These Utah families are among millions living in the world of the unknown.

They shared their stories with the next generation of genetic specialists at the University of Utah School of Medicine on Friday.

“We've been on this journey with genetics now for five plus years and the future of medicine is genetics,” Szajnuk said.

They’re hopeful these future doctors will have the answers.

“We're so thankful for that next generation to rise up and have that answer for these families with rare genetic diseases,” Bingham said.

Governor Gary Herbert has officially declared April 29th as undiagnosed rare disease day.

The local grassroots organization, Rare and Undiagnosed Network, or RUN, is hoping to raise awareness and funds for the cause. For more information, click here.