Nonprofit is on a RUN for undiagnosed patients and families
February 25, 2018
Park City's Gina Szajnuk is the co-founder and executive director of Rare and Undiagnosed Network (RUN), and she's on a mission.
Her nonprofit is working to raise awareness and provide support for families with members who suffer from rare and undiagnosed diseases.
"One in 10 people in the United States struggle to find out what's wrong with them," Szajnuk said. "That translates into 30 million people, and it's a heartbreaking epidemic that people don't understand."
To help spread the word, Szajnuk, who is also the advocacy ambassador for the National Organization for Rare Disorders (NORD), will speak on Feb. 28 in Washington, D.C., at the Rare Disease Congressional Caucus briefing about the importance of insurance coverage for what is known as the "diagnostic odyssey."
The term refers to the numerous doctor visits and tests that come up empty.
Szajnuk has three children — Ava, 10, Oscar, 8, and Lucy, 6 — who have undiagnosed, rare diseases.
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"We have been sequenced, exome sequenced and analyzed six times," Szajnuk said. "We've had full genome sequencing and analyzed three times and still don't have a diagnosis."
Doctors say the kids are ahead of science.
"They have told me that the sequencing and algorithms need to catch up, before there can be anything done," Szajnuk said.
The same day Szajnuk is set to speak in D.C., her daughter Ava will speak at the Utah Rare Action Network Advocacy Event, which will run from 3-5 p.m. at the Utah State Capitol.
The gathering is NORD sponsored and is organized by Utah State Ambassadors Julie Potter and Jennifer Summers.
People can register for the event by visiting rareaction.org/events/upcoming-events/utah-rare-disease-day-2018/.
Ava will talk about her and her siblings' experiences as rare and undiagnosed patients, Szajnuk said.
"Ava underwent four cranial brain surgeries in 2013, and we still struggle," Szajnuk said. "Our kids have missed so much school because of this, and we would like to thank Jeremy Ranch for working with us. They understand just getting our kids to school is a big a deal. I want people to understand that my kids' bodies don't work correctly."
Feb. 28 is a special day for Rare and Undiagnosed patients, Szajnuk said.
It is the official Rare Disease Day trademarked by Eurodis, a non-governmental patient-driven alliance representing 792 rare disease patient organizations in 69 countries, she said.
"Also Gov. Gary Herbert declared Feb. 28 as Rare Disease Day in Utah," Szajnuk said. "He also declared April 29 as Undiagnosed Rare Disease Day."
Another event that will educate the public about rare and undiagnosed conditions is the Utah Rare Symposium that will be held from 11:30 a.m. to 5 p.m. on Saturday, March 3, at the Marriott Hotel, 480 Wakara Way in Salt Lake City.
The event is presented by Utah Rare — a nonprofit that raises awareness of rare diseases and the impact they have on patients' lives — and is chaired by Tristin West.
"Her son Jayson is between rare and undiagnosed, and they are thinking they may have a diagnosis for his ailment," said Szajnuk, who sits on the executive committee with RUN's other founders Season Atwater and Anne Burns.
Registration for the symposium can be done by visiting http://www.eventbrite.com/e/utah-rare-symposium-tickets-41811254588.
"Tristin and I will speak, along with Dr. Lorenzo D. Botto, one of the geneticist of the undiagnosed program at Primary Children's Hospital," Szajnuk said. "It will be a great event for families and medical students to attend."
The last even in March, which will be the most touching for RUN families, will take place on Saturday, March 17, at the Vivint Smart Home Arena.
"The Utah Jazz will honor 30 rare and undiagnosed children on court during the National Anthem before their game with the Sacramento Kings," said Szajnuk.
Her husband Justin, who spells his last name Zanik for professional purposes, is the assistant general manager for the Utah Jazz.
In addition to honoring the patients, RUN wanted to honor siblings of patients that are undergoing the diagnostic odyssey or who have passed away from their illnesses.
"(Utah Jazz guard) Dante Exum has donated 50 tickets through the NBA Player Ticket Donation Program for the event," Szajnuk said. "We want people to know that there are people who suffer and that they need help."
For information about Rare and Undiagnosed Network, visit http://www.rareandundiagnosed.org.