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.
"We're certainly interested in the research that's going on. We went to a Foundation for Prader-Willi research conference and we were impressed that there was quite a bit of research in the field of hunger and obesity," Olivacz says. Because PWS is so rare, there isn't much funding toward research. "If you could cure Prader-Willi hunger, the impact on other obesity-related syndromes would be huge."
That's where the One Small Step Walkathon comes in.
Held internationally, the walkathon raises money for the Foundation for Prader-Willi Research, which was established in 2003 by parents of children with PWS. Since 2003, FPWR has raised more than $1.6 million in research support, according to the foundation's website.
The first walkathon in Maryland, organized by the Olivaczs, will be 10 a.m. Aug. 20 at Annie's Playground at Edgeley Grove Park, in Fallston. Registration and packet pickup begins at 9 a.m. As of Monday, the Olivaczs had raised $4,535 toward their goal of $10,000. Counting other teams participating in the event, including Joe's parents, Linda and Joe Olivacz, the walk has raised $7,000.
Michael's sister, Samantha James, 21, is also participating in the walkathon. Contrino mentions that all her children, five in total, are all very understanding of their brother's disease and are incredibly supportive.
Olivacz says they're expecting 150 to 200 people to participate, including several of David's therapists and teachers. She adds that David's "very dynamic personality" has been a big factor in the large number of people expected to attend.
"These kids are so wonderful and they all have such beautiful outlooks on life," Contrino says of children with PWS. "[Michael] goes to bed smiling and wakes up smiling."
Those who've donated money for the walk will be entered into raffles, with prizes such as restaurant, department and grocery store gift cards, a basket of goods from David's Natural Market, IronBirds tickets and a 30-day membership to the Arena Club. Every $5 raised gives the participant one raffle ticket to go toward the raffle prize of their choice. In addition to the raffles, participants can receive a free 10-minute massage. Also at the event will be children's games, face painting, music and snacks and drinks.
For more information about the walk and Prader-Willi Syndrome, go to onesmallstep.fpwr.org/dw/users/david/fallston.Copyright © 2015, The Baltimore Sun