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Seeking a cure for insatiable hunger
Prader-Willi families are raising funds, awareness of rare disorder

Walk through Elizabeth Bystrak's sunny home in Orchard Park, and you'll notice an unusual floor plan.

There's a dining room, an open-plan kitchen.

And then there's a separate area -- behind a locked door -- where Bystrak and her husband, Matt, keep the refrigerator and pantry items such as cereal, crackers and cookies.

The reason the food is locked away?

The Bystraks' daughter, 2-year-old Violet. She has an insatiable urge to eat.

The blonde, curly haired toddler with delicate features -- and a personality so outgoing that her family jokes Violet will someday be "the girl with no last name" -- was born with Prader-Willi Syndrome.

The rare condition, which occurs randomly and is present from birth, involves a missing gene on one chromosome in the developing baby. Prader-Willi causes different problems for each child born with it -- but one common issue is that the condition causes an uncontrollable appetite.

"That's hard," said Bystrak, an instructor at Medaille College. "Because food is everywhere."

"You can help with scoliosis," Bystrak continued, gesturing toward the pink, butterfly-patterned brace her daughter wears round-the-clock to straighten her spine.

"But there's nothing on the market that does anything for the hunger."

Now, the Bystraks are joining with other Prader-Willi families in Western New York to raise awareness about the condition -- as well as funds for research into the syndrome.

They are holding a fundraising walk July 14 in Chestnut Ridge Park in Orchard Park, starting at 10 a.m. in the park casino.

Last year, in the first such fundraiser, the Chestnut Ridge event attracted 250 people -- despite heavy rain -- and raised $29,000 for research, Bystrak said.

All money raised from the fundraisers is being donated to the Foundation for Prader-Willi Research in California, Bystrak said.

"It was amazing, the support that came out," said Bystrak. "We were blown away."

More importantly, she said, the event raised awareness about the genetic disorder, which affects roughly one of every 12,000 children born in the United States.

"People don't know," said Bystrak, a West Seneca native who met her husband at age 17 while working at the McKinley Mall. "We're hoping this year is going to be even bigger."

Bystrak and some fellow parents of Prader-Willi kids are now working to create a local support network for parents and families dealing with the condition.

A group of parents and family members meets regularly at locations around Western New York to address concerns of those living with the condition and to share tips and strategies.

One of those moms is Ann McLellan, of Pendleton, the mother of Matthew, 6, who also was born with the syndrome.

Matthew McLellan was born two months early, his mother said. After his delivery at Sisters Hospital, he spent time at Women & Children's Hospital for the special care he needed, Ann McLellan said.

"I had no one to talk to, when we got our diagnosis," said McLellan, of her soft-spoken, sandy-haired son, who talks politely with visitors and asks permission to play with his favorite toy, bubbles. "We were devastated. We had no one to turn to."

McLellan -- who has a younger son who does not have Prader-Willi -- reached out to the Bystraks after Violet's birth, to offer them support and advice.

Violet Bystrak was born in September 2009 at Mercy Hospital, a week overdue, her mother said. Despite the 41-week pregnancy, Violet weighed just a little over 6 pounds at birth. Her muscle tone was so slack at birth that she seemed to fall asleep soon after the delivery.

She spent five weeks in the neonatal intensive care unit at Children's Hospital.

Doctors were concerned, Bystrak said. "It was her muscle tone," she said.

After much testing, during which a few other conditions were ruled out, doctors told the Bystraks that Violet had Prader-Willi.

"When she was 3 weeks old, we got the Prader-Willi diagnosis," Bystrak said.

Her reaction at first was surprise -- and a sense of confusion.

"I'm a special-education teacher," she said, "and I had never even heard of it."

The Bystraks have another daughter, Sophia, who is 5 and who does not have Prader-Willi.

Violet has faced several health challenges. She needed a feeding tube for the first 11 months of her life. She has severe scoliosis, sleep apnea, acid reflux and other health issues, her mother said.

Prader-Willi is different from conditions such as Down syndrome and autism, but, like autism, it is a spectrum disorder that can result in different issues in different children, Bystrak said.

Issues can include gross motor delays, slack muscle tone, the uncontrollable urge to eat and developmental delays with walking, speech and other areas of growth, she said.

"All of these things manifest themselves in different ways," Bystrak said. "With our own child, we're just waiting to see if it will develop. It's a spectrum disorder. Like autism -- it's the same thing with PWS."

Violet, who will turn 3 in September, is only starting to show some of the eating urges that can become very strong in other children, her mother said.

"We're watching television, and she sees a commercial for Olive Garden -- and all of a sudden that's all she sees, all she wants," Bystrak said. "We're always trying to E-A-T" -- the mom glances quickly at her daughter, who is playing with a Barbie hair-styling head, to see if she has noticed.

"We spell everything [about food] around her now," Bystrak added, laughing. "She's going to be the world's greatest speller."

The Bystraks did not originally plan to have their pantry as a separate, locked room in their house. But in doing some renovations on the home, they realized that the new open-plan kitchen they were designing did not need to have the refrigerator and pantry in it. Those could be left in the original, smaller kitchen, which is near the new kitchen, with its granite counters and attached sunroom.

They added a door and a lock, and now the set-up is perfect for the home of a child with Prader-Willi.

"If we find a cure for the hunger," Bystrak joked, "it can become a really nice laundry room."

Matthew McLellan is older and has more of the eating issues, though his parents, Ann and Harry -- his father is the brother of fallen Buffalo Police Officer Robert McLellan -- have been able to help him curb the impulses and avoid gaining excess weight.

"He'll wake up in the morning and ask for breakfast," said Ann McLellan. "It's the quantity, and the scheduling. He knows when he gets a snack, or a meal.

"[But] if he sees someone eating, he'll ask for some -- even if he just ate a meal."

One of the reasons the urge to eat without satiety is dangerous for children and even adults with Prader-Willi is that their bodies lack the "shut off" mechanism that allows them to feel full.

That, plus the fact that many of those with Prader-Willi have very slow metabolisms -- partly due to their muscle tone -- and can gain weight on anything more than an 800-calorie or 1,000-calorie diet, Bystrak and McLellan explained.

"It's about quantity. Stomach rupture is a big fear," said Bystrak. "Nationwide, kids have died from that.

"There are kids whose metabolisms are so slow, they can gain 10 pounds in a weekend, if allowed free access to food."

Both McLellan and Bystrak emphasize that raising children with Prader-Willi Syndrome is just like raising any other child, in many ways.

They do need the community to be more aware, so that issues with school lunches and snacks and restaurant meals become easier for their children as they grow.

"It's very challenging," said Bystrak. "You can control your own house. But you can't control every place else -- [like] a store where they say, 'Can your kid have a treat?' "

But, the two moms agreed, raising a child with Prader-Willi can also be a positive, joyous experience.

"It's amazing," said Bystrak.

"And our kids are helping our families be healthier."

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For more information about the walk or about the local Prader-Willi support network, visit the website onesmallstep.fpwr.org.

email: cvogel@buffnews.com