Arlan and Lisa Nelson expected a healthy baby boy.
But an emergency cesarean section, followed by lower oxygen levels signaled all was not well with Hunter, their first child. Shortly after his birth on April 25, he was whisked off to the neonatal intensive care unit at Saint Elizabeth Regional Medical Center.
By the next morning, doctors had identified three life-threatening problems with his heart and transferred him to Omaha.
Five days later -- on his parents’ second wedding anniversary -- Hunter had heart surgery. Just before the operation, doctors told the Nelsons Hunter had 22q11.2 deletion, a chromosome disorder that affects about one of every 4,000 births but is little-known. Some estimates say it as almost common as Down syndrome.
Within a week, the Nelsons had found answers, encouragement and support from Mission 22q, a Lincoln-based support group.
What a difference from 13 years ago, when Anne and Mike Stalker went from doctor to doctor seeking a diagnosis for their son Jeff’s litany of health issues.
There were times they thought they were crazy, and doctors who accused them of making up stuff or over-reacting.
It took six years, several doctors, relentless advocacy and devastating heartache before a single blood test gave them the answer: 22q11.2 deletion, a missing section in the 22nd chromosome.
Armed with a diagnosis, the Stalkers started Mission 22q, vowing no parent would go through what they had.
Today, 50 Nebraska families belong to Mission 22q. Lincoln pediatrician . Scott Applegate is on the board and sees six patients with 22q -- including Jeff Stalker, Hunter Nelson and Sam Lutz, the oldest son of Seth and Teri Lutz.
On Friday, the group will host the second annual 22q Wine & Music, Too at James Arthur Vineyards. Texas Rangers pitcher Ryan Dempster’s 22q Mystery Bus will be there to help raise awareness about the defect and the easy test for it. Dempster’s daughter, Riley, 3, has 22q.
The normal human body has 23 pairs of chromosomes -- one set from the mother, the other from the father. Chromosomes, found in every cell, are the biological instruction manual for the body.
The deletion of q11.2 on the 22nd chromosome causes anomalies including heart defects, cleft palate, kidney problems, weakened immune system, hearing loss, cognitive, developmental, speech and growth delays and behavioral, emotional and psychiatric issues.
While some subtle physical traits are associated with 22q, most people -- including medical professionals -- don’t notice them until after they suspect a child has 22q.
That’s where increased awareness can help. The earlier it is diagnosed, the sooner families can seek services such as early education, occupational, physical and speech therapy and medical intervention when normal childhood illnesses become risky.
Early identification also helps parents and families prepare for the challenges ahead.
“Instead of a frustrating beat-your-head-against-the-wall process, it has a light shed on it,” Applegate said.
Seth Lutz recalls baby Sam turning blue and choking because of his inability to suck and swallow.
Hours after surgery for a heart defect when Sam was 6 weeks old, his parents learned he had 22q deletion and heard a worst-case prognosis: developmental delays, low IQ, possibility of never leading a normal life.
“We thought, 'Holy crap, how do we negotiate through this?'” Seth said.
“We have come a long way.”
Sam is a fourth-grader now and the healthiest he has ever been. Like many 22q kids, he seems to be outgrowing the medical problems.
When Jeff Stalker outgrew his medical issues, his mother convinced herself he would be spared mental health woes but by fourth grade, overwhelming anxiety made it impossible for him to attend school. He was educated at home until he was a high school senior.
Today, Jeff learns life skills and job training skills through Lincoln Public Schools’ 18-21 Program and is a student at Southeast Community College.
“Kids with 22q have hopes, dreams and aspirations just like the rest of us,” Applegate said. “They have every right to chase those dreams and aspirations.”
Reach Erin Andersen at 402-473-7217 or firstname.lastname@example.org.