Brody Schuster's medical problems kept piling up, and so did his parents' concerns.
As a baby, Brody scooted on his bottom and never crawled. His size was normal at birth, but his growth soon began to lag severely. Time passed, and Brody struggled with speech. Then, a physician discovered Brody's hearing loss.
There were too many challenges. His parents knew something was seriously awry.
When Brody was 4, his parents, Jane and Kevin Schuster of Springfield, took Brody to Dr. Ann Haskins Olney, a clinical geneticist at the University of Nebraska Medical Center's Munroe-Meyer Institute.
Olney had read Brody's medical history, then looked him over. Among his distinctive facial features were ears that flopped out at the top. Olney knew: 22q.
The disorder, officially “chromosome 22q11.2 deletion syndrome,” is rare enough that pediatricians frequently don't diagnose it and most people have never heard of it. But as chromosome disorders go, it's not terribly rare. In fact, it's the most common chromosome deletion — a tiny missing piece of chromosome 22, causing a person to miss about 30 of the 20,000 genes in every cell.
The Schusters belong to a Nebraska support group for families affected by 22q. The nonprofit organization, Mission 22q, will hold a fundraiser Friday from 6:30 p.m. to 8:30 p.m. at James Arthur Vineyards in Raymond, Neb., north of Lincoln. Tickets are $25 in advance or at the door. The fundraiser will include appetizers, wine tasting, music and a silent auction.
The money raised will help the organization bring a speaker to Nebraska.
Texas Rangers pitcher Ryan Dempster's 22Q Mystery Tour, a colorful bus designed to bring attention to the disorder, is scheduled for appearances at the fundraiser and in Lincoln that day. Dempster's 3-year-old daughter, Riley, has 22q.
The disorder affects people in numerous ways, but there are some characteristics that appear in many people with 22q. They can include congenital heart defects, immune system problems, learning difficulties, a cleft palate and in some cases kidney and spine abnormalities, an extra finger or toe, and feeding and breathing problems.
For years, the syndrome went by a variety of names, many viewed as different conditions, because the characteristics can vary so. The names include DiGeorge syndrome, Cayler cardiofacial syndrome, velo-cardio-facial syndrome and Shprintzen syndrome. The multitude of names adds to the confusion.
Olney said 1 in 4,000 babies is diagnosed with 22q, although it's probably far more common because it so often goes unrecognized.
Like the Schusters, Anne and Mike Stalker of Lincoln watched their boy, Jeff, face one complication after another with no single diagnosis — cleft palate, infections, breathing and feeding problems, heart defect.
“We just kept finding something else wrong with him,” Anne Stalker said. Physicians finally hit upon 22q as the cause when their son was 6.
The Stalkers formed Mission 22q in 1999, and it became an official nonprofit organization three years ago. About 50 families belong.
Jeff Stalker now is 19, involved in a special education program and working in a college kitchen. His mother said it's important to have 22q discovered early so medical and learning problems can be addressed quickly.
“My son didn't get much help at all in the first six years, which I think put him behind,” she said.
In Springfield, Brody Schuster now is 6 and attending first grade at Springfield Elementary School. He receives special education, occupational therapy, speech therapy and physical therapy. He has hearing aids in both ears. He plays T-ball and soccer.
One recent evening Brody, his 3-year-old brother, Hudson, and their dog, Sox, raced in circles around the living room. Brody settled down and eventually requested cheese pizza and apple slices.
Hudson didn't want any apple. “It's good,” Brody told his little brother.
Then Brody tossed an apple slice to Sox. He gobbled it up.
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