A mother’s unrelenting crusade to help those trapped in the wilderness of the undiagnosed
Gina Szajnuk’s kids suffer from undiagnosed disease; so does she. She is determined to find answers, and help
Two hours before she went to the hospital to give birth for the first time, Gina Szajnuk decided to record a video message to her unborn daughter.
“I had a feeling — a kind of premonition — that compelled me to do it,” she remembers.
Looking directly into the camera, she said, “You’re going to be my best friend, my little sidekick and I’m going to do whatever I can to protect you.”
Little did she know all that promise would entail.
The symptoms started for Gina right after Ava was born. She couldn’t regulate her body temperature. She felt like she was on fire. She kept her bedroom so cold her husband got sick. In one way or another, her mysterious maladies that began with childbirth have continued ever since.
But they were nothing compared to what her daughter began experiencing after she turned 3. To that point, Ava had been a healthy kid. Now the ER visits came fast and furious. Cysts, headaches, temperature intolerance, fatigue, neuropathy, rashes, infections, illness after illness. Then the siblings that followed her, Oskar and Lucy, started experiencing similar afflictions.
Worse than that, way worse, was no one knew why any of them were sick. Medical science was stumped. They could treat the symptoms but not the source. Gina and the kids had entered the wilderness of the undiagnosed.
It’s difficult if not downright impossible to adequately describe the whiplash that transformed Gina’s life almost overnight.
One minute she was dreaming of a white picket fence and a family with perfect children. The next she was introduced to a world where mystified doctors shook their heads and caregiving nurses looked away.
“You never want to be interesting to doctors,” a clinician told her. “And you guys are fascinating.”
Nothing in her experience to that point suggested such a turn. Her childhood growing up the second of four children in the Monona Lake suburb of Madison, Wisconsin, was Midwestern idyllic. Her father, Gene, was a physician, her mother, Barbara, was president of the University of Wisconsin national alumni association.
Gina’s girlhood was full of running and swimming and playing outdoors, taking anything the Wisconsin climate could throw at her. At Monona Grove High School she was senior class president.
She had big dreams and wasn’t afraid to follow them. Taking a break between her junior and senior year at the University of Wisconsin she made her way to Hollywood, where she worked with the director Wes Craven and thought she might become a producer. After she graduated she returned to California, was promoted quickly and moved to New York, then Chicago, where she shifted gears and went to work as director of client services for celebrated sports agent Mark Bartelstein’s Priority Sports & Entertainment.
On her third day on the job, a young aspiring agent from Kansas City, Justin Szajnuk, joined the firm and took the cubicle next to hers.
They had what Gina laughingly calls “our Jerry Maguire moment” and began dating almost immediately. A little over a year later they were married.
“We had so much fun together,” Gina reflects on their first years of marriage. They plotted out their future. Gina would work a few more years so they would be financially able to start a family that she could stay home and raise.
Four years later, in 2007, Ava was born, followed in short succession by Oskar in 2009 and Lucy in 2011.
They’d always planned on having a fourth, but the more the hospital visits mounted the more the doctors suggested it might be wise to stop for now given that the three they already had, not to mention Gina herself, were continually battling afflictions that left them completely baffled.
The Szajnuks moved to Utah in 2013 when the Utah Jazz hired Justin (who uses the shortened surname of Zanik in his professional dealings) as assistant general manager. The move was delayed because 6-year-old Ava was dealing with life-threatening medical challenges at the Mayo Clinic in Minnesota.
Once here, Gina didn’t miss a beat. Her drive to find the root cause of what ailed them, and to connect to others in a rare-and-undiagnosed community that can seem so sheltered and lonely, only picked up steam. Gina embraced the Utah medical community and the Utah medical community embraced right back. Pediatricians, geneticists, neurologists, immunologists, virologists, internists — they all went on her speed dial.
Dr. John Carey, of the University of Utah Medical School, has been the family’s geneticist since their arrival. “Unbounding,” he says in describing Gina. “That would be the word I would use. Her energy is unbounding.
“Gina has the character, the leadership and the charisma to just get things done. She spurs you on to want to do as much as you possibly can.”
Here is a just a partial highlight reel of what Gina has been instrumental in helping “get done” since 2013:
2014 — Co-founded, with Dr. Reid Robison, of Tute Genomics, RUN, the Rare and Undiagnosed Network (rareundiagnosed.org) that has since gone national and international.
2015 — Inaugurated, with the Utah Jazz’s support, RUN’s NBA Initiative, a program that brings children with rare and undiagnosed illnesses onto the court before a Jazz game to be honored and raise awareness. (Seven NBA teams have since followed suit).
2016 — Led the way in getting the state to designate April 29 as Undiagnosed Day in Utah (Gov. Gary Herbert signed the proclamation at the Capitol).
2017 — After the Milwaukee Bucks front office lured Justin away from the Jazz for the season, Gina returned to her native state and launched the advocacy website wisconsinrare.org.
2018-19 — Upon Justin’s return to the Jazz (en route to being named general manager), Gina arranged for Ava to appear on the floor of the Utah House with now-former Rep. Lee Perry to support legislation that successfully established the Rare Disease Advisory Council within the Utah Department of Health.
In 2020 COVID-19, of course, slowed things down.
When the novel coronavirus hit — a disease no one knew anything about and had no idea how to treat — the world got a taste of what the Szajnuks have been going through for years.
Gina and Justin watched society’s all-out assault on COVID-19 with envy, imagining what that kind of urgency and commitment would do for the rare and undiagnosed.
Meanwhile, the fight continues. The kids have stayed largely quarantined for the past two years in their home overlooking the Salt Lake Valley, venturing out for doctor and hospital visits but little else. At night they welcome the Jazz GM back home for dinner. Rare and undiagnosed can tear families apart or, as with the Szajnuks, bring them closer together.
The role that mom has carved out as chief defender has not been lost on anyone.
“She has always been my biggest advocate,” Ava says, remembering all the times “she refused to leave the hospital” during Ava’s interminable stays. “She is the kindest person. She will do anything for me. My mom is very rare, very rare.”
“When my mom made RUN it showed us that we’re not different, that there’s a whole community of people out there that are the same as you,” says Lucy.
“Her determination, her relentless pursuit of care for our children, is never ending,” says Justin. “She is a wonderful wife and mother. We have three beautiful children that are smart and care about each other and care about their world. Gina has made sure they have happy lives.”
And she’s done it while dealing with undiagnosed issues of her own.
“If I had half the stuff going on with me that she had. I don’t know if I could go even half as hard,” Justin says.
As the Szajnuks continue to pray, plot and hope for breakthroughs, every year on Ava’s birthday they have a family tradition. They pull out that videotape Gina made in 2007 two hours before Ava was born.
“I’m going to do everything I can to protect you,” Gina says, in a voice that has transcended the years.
(To learn more about undiagnosed and rare diseases and how to support the cause, go to rareundiagnosed.org.)