Harford County families take One Small Step

Walkathon to be held for Prader-Willi Syndrome

  • David Olivacz, 3, of Churchville, has Prader-Willi Syndrome, a genetic abnormality that affects a child's early physical and mental well-being and also results in long- term health problems. Prader-Willi occurs in one of every 12,000 to 15,000 births.
David Olivacz, 3, of Churchville, has Prader-Willi Syndrome,… (Photo by Kelly Nelson Photography,…)
August 02, 2011

Churchville resident Cyndi Olivacz, 37, had a perfectly normal pregnancy with her now 3-year-old son, David.

She and her husband, Joe Olivacz, 38, and a chiropractor in Bel Air and Havre de Grace, weren't expecting anything unusual. But when David was born almost four years ago "he was very lethargic. He didn't cry. He was basically asleep when he was born," Olivacz, a physical therapist in Havre de Grace, remembers. Doctors tested David's blood and a week later was diagnosed with Prader-Willi Syndrome (PWS).

PWS, while gaining recent national recognition from being the focus of TV shows such as "CSI: Crime Scene Investigation," "Extreme Makeover: Home Edition" and "My Deadly Appetite," is a congenital disease that is still relatively unheard of. The disease develops "near the time of conception for unknown reasons," according to Prader-Willi Syndrome Association's website, and occurs in two stages, causing low muscle tone, a decreased mental capacity initially, and then a constant feeling of hunger in the second stage, often leading to obesity and other weight-related issues.

The disease is a genetic abnormality of the 15th chromosome, affecting one out of every 12,000 to 15,000 births, and occurs in males and females equally, as well as in all races. While people afflicted with PWS have, until recently, died during adolescence or young adulthood, the prevention of obesity and control of weight issues has lengthened their life span.

David was in the neonatal intensive care unit (NICU) for 21 days before being brought home, and the journey of raising a child with PWS has "been challenging ever since" for the Olivaczs.

The first big challenge was feeding David, who couldn't suck or drink from a bottle because of the decreased muscle tone caused by PWS.

"[We] basically had to squeeze milk into his mouth for the first 12 months so he could eat," Cyndi Olivacz says. This is typical of babies with PWS, but doesn't last for too long. The second stage of the disease, which David is in, is when the insatiable hunger — the hallmark of PWS — begins.

"It's like you or I haven't eaten for three days," Olivacz says of the feeling those with PWS live with every day. "The worst part is that they're so hungry that they'll sneak food or steal food." This compulsive need to eat makes constant supervision necessary.

Olivacz adds that the hunger is so bad the majority of people with PWS can never live independently, living with family for as long as possible and eventually moving to a group home with the necessary supervision.

"We never take him to a restaurant. We never go out to eat. We don't go to birthday parties where there's food. Holidays — Christmas, Thanksgiving — have to be tweaked so there's limited access to food," Olivacz says of the family's adjusted lifestyle. "It's stressful, I won't lie. It's stressful. But we're doing the best we can."

Much like David and others with PWS, Michael Contrino, 10, was born with low muscle tone, had trouble feeding and stayed in the NICU for about a month. His mother, Terry Contrino, 46 of Bel Air, said she and her husband Paul, 47, didn't know anything about Prader-Willi when Michael was diagnosed.

"You go numb and you don't even know what the word means. You don't even know how to say it," Contrino says. "Unfortunately, we didn't know anything about it."

Contrino, who quit her job after Michael was born to take care of him, quickly enrolled her son, who was also diagnosed with autism, into therapy and began educating herself.

It was this early intervention that Contrino attributes to Michael's relatively normal life.

"We have no problem taking him to restaurants. He does turn away food," she says. "He will not turn away a plate — he will eat anything — but we definitely notice as a family that we need to portion control him."

Michael's story is a little different from many children with PWS, though. Soon to be entering fourth grade, Michael attends public school, though in an inclusive program, and he doesn't sneak food. While he does have a somewhat controlled diet (he eats "a large amount of fruits and vegetables every day" and no sweets are allowed in the house), the cabinets don't need to be locked to prevent Michael from overeating and the family regularly goes out to restaurants.

The Contrinos "definitely see it changing in the future," however. In the last month, Michael has shown more interest in food, something he never really did before. But they're taking each day as it comes. "He's just been the absolute ideal kid."

There is no cure for PWS, but to combat the low muscle tone and weakness, doses of human growth hormones are a common treatment among those with the disease, including David and Michael.

Included in the Olivaczs new life is joining the fight to find a cure for Prader-Willi.

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