Constable: Family's crusade began before son's disorder even had a name

On their first night as parents, Liz and Mike Pribaz slept in the hospital, blissfully unaware that their newborn son, Jack, had a genetic defect that hadn't been discovered yet.

"We were sleeping in the room and Jack was in the nursery. I was sleeping on the couch," Mike Pribaz remembers. "There's a nurse and a doctor and it's 4 in the morning. They come in and turn on the lights, and you just knew."

Jack was having seizures. "It was seizure, rest, seizure, rest, just nonstop. He screamed all night," the dad says.

"His first year of life was total screaming," Liz Pribaz remembers.

For months, the couple journeyed with their son from Central DuPage Hospital to Lurie Children's Hospital in Chicago to their home in Winfield, where they practiced giving shots to oranges before beginning a regimen of injections to ease Jack's seizures.

"He was basically a guinea pig and a human pincushion," Liz Pribaz says.

Her sister, Anna, and mom, Ewa, and her mother-in-law, Connie, were part of the family and friends who helped the couple cope with daily life in addition to all the doctor visits and hospital stays.

Liz Pribaz gave up her career as a pharmacy sales rep to care for Jack. Mike Pribaz returned to his job teaching classes, including AP history, at Wheaton North High School, where he coaches boys golf and is an assistant girls varsity basketball coach.

Jack's major seizures stopped in January 2010 when he was 10 months old, but his development was stunted. He still needs a feeding tube, can't sit up on his own and can't grab things, let alone crawl or talk.

Doctors ran batteries of tests, and the Pribaz family waited months for the results. "That was like torture," Liz Pribaz says.

"The phone rings and you look at each other like, 'You answer that,'" Mike Pribaz remembers.

Their second son, Matt, was born in November 2010 with no medical issues. But there were no answers for Jack.

There is a good reason that doctors didn't diagnose Jack's condition as KCNQ2-related epilepsy for more than 2½ years. That gene defect wasn't discovered until 2012, says Dr. Edward C. Cooper, who heads The Cooper Laboratory, which studies molecular neuropharmacology at Baylor University. Cooper has worked with Jack's primary physician, Dr. John Millichap at Lurie Children's Hospital, in researching the rare disorder.

"When we got this diagnosis, there was nobody else," says Mike Pribaz. In 2012, the family launched The Jack Pribaz Foundation and the JacksArmy.org and KCNQ2.org websites. "At that point, there was no army, just us."

"That's very true. He (Jack) was among the very first diagnosed in the United States," Cooper says, noting his patient registry now includes about 500 patients around the globe. "Things really have changed, in part because of the efforts of the Pribaz family and their foundation."

That foundation, which has raised nearly $500,000 for KCNQ2 research, hosts its sixth annual Jack's Army Golf Outing, fundraising dinner and auction Monday at Klein Creek Golf Club in Winfield. For details, visit JacksArmy.org.

Insurance covers much of Jack's treatment, and the family sacrifices to pay for care that isn't covered, so 100 percent of the profits raised by the foundation goes for research.

"Our goal is to raise awareness, and to find a cure for this. In all of this, we think we are the most fortunate family ever," Mike Pribaz says, explaining how family, friends, neighbors, co-workers, his students and even strangers wear "Jack's Army" T-shirts and help with fundraising. "In the last five years, there isn't a day that passes that I don't see one of Jack's T-shirts."

People with KCNQ2 vary. Some can walk and talk. Others die young of complications. At age 3, Jack attended classes at the Jefferson Early Childhood Center in Wheaton. Now 8, he attends Bower Elementary School in Warrenville, with full-time aides in the classroom.

At home, his brother reads to him. At birthday parties, his parents will give him a taste of cake frosting. They think Jack understands more than his lack of communication leads people to believe.

Liz Pribaz remembers talking to a relative about the trials of lifting and carrying Jack, who now weighs about 50 pounds.

"I said, 'I don't know what I'm going to do with you when you get bigger,'" she says. "And he started crying, and then I started crying."

Jack lets people know when he is upset, and when he's happy.

"If he gets excited, he'll squeal. He smiles. He frowns," Liz Pribaz says, noting that he makes connections with people. "Jack has made so many friends at that school."

Smiles are common.

"You spend an hour with him and you see he's a super-happy, fun guy," his dad says, as he pats Jack on the chest and elicits a giant grin. "You've got to stop looking at what they can't do and focus on what they can do. Jack has had an impact on everyone he's met. There is so much hope, so much optimism."

No one knows Jack's prognosis, but medical researchers say that funding research into the rare disease is a start.

"I'm hopeful research can have a transformative impact, but I'm also aware it's complicated," says Cooper, who knows Jack and the Pribaz family very well. "You wonder if there's something in there that we can unlock. That's cause for hope."