Local Program Helps Patients With Prader-Willi Syndrome

PITTSBURGH (KDKA) -- Anita Cooper's 12-year-old daughter, Megan, was born with a condition called Prader-Willi Syndrome.

"From day one we knew that there was something, but we did not get the diagnosis until she was 8-years-old," she said.

Small stature, low muscle tone, thinking and behavioral problems, and chronic feelings of hunger that can lead to excessive eating and obesity are part of the syndrome.

"We have a padlock on the fridge, we have a padlock on the freezer, we have a padlock on the pantry," Anita described. "She will scream for three hours non-stop until she loses her voice. She may lock herself in her bedroom and throw a lamp across the room."

"Unfortunately, in the absence of treatment or the structure that the treatment helps to build, people will often die of complications of obesity," says Dr. Gregory Cherpes of the Children's Institute.

It's diagnosed with a blood test looking for the abnormal gene.

"Your child has been diagnosed with a syndrome that is non-curable, and therefore, you know she will have it for the rest of her life and that it will be a part of your life," says Anita, "and it's a syndrome that is not very well known."

Only one in 15,000 people has Prader-Willi Syndrome. Very few places offer in-patient treatment. One of these is the Children's Institute right here in Pittsburgh.

The inpatient unit has furniture with rounded edges, bolted beds and closets, and other safety features.

"Some folks have really severe aggression and self-injurious behavior, and it's hard to see somebody not have much of an ability to stop hurting themselves," says Dr. Cherpes.

The patients work intensively with a team of specialists for 6-8 weeks to understand and control their aggression, anxiety, and appetite.

But leaving their child in Pittsburgh for several weeks so far away from their small town, North Carolina home is tough for the Coopers.

"It's a very difficult thing to do is to walk away and get on a plane and go five states away and hope for the best," Anita said.

Part way through, her parents return for a visit. Over the first several weeks, she improves her diet...

"I like nutrition," Megan said.

She increases her activity level and changes her behaviors.

"To see her sort of start to initiate some social contact and to accept sort of change within that has been pretty, pretty amazing," Dr. Cherpes said.

With strictly scheduled mealtimes, she gets 600 calories a day.

"Peanut butter and jelly sandwich, some fruit, and we've got some mixed vegetables, apple sauce, lots of salad, lots of vegetables," Megan and Anita chime in about what's for lunch.

Through a Facebook page her mom started, people from all over the world have sent cards, letters, and gifts. These help as motivational tools during her treatment.

"If she takes a shower, then she can open one of her parcels. If she attends a physical therapy, then she can open, she gets a piece of mail," says Anita.

Megan's family calls her every day and works with the staff to prepare for her return home.

"Being more rigid will help with her anxiety, which I didn't realize before. They need to know exactly what time breakfast, lunch and dinner is, which is why she's looking at my watch right now," says Anita. "We're all probably going to have to go on the diet, too."

But there's more work ahead.

"I think the more she's able to socialize and sort of have interactive experiences with people, the less likely she is to withdraw to herself and get caught up in the same patterns she'd been struggling with before," explains Dr. Cherpes.

After 10 weeks, it's time to go home.

"Didn't want to leave her here, I was going to kidnap her the first night and take her home," Anita admits, "but leaving her here was probably one of the best decision I ever made."

Megan and her family will have to apply what they've learned here to their daily lives.

"Instead of Prader-Willi Syndrome ruling our house, that it will be something that is just in our house, but our family will be normal as possible," Anita said.

RELATED LINKS
The Children's Institute
Prader-Willi Syndrome