Eating obsession

Three-year-old Maria Christine Vucci of Brookeville, Md., is on a diet. Although she just weighs about 28 pounds, her parents carefully restrict her food intake. By doing so, Bill and Ann Vucci are saving their daughter’s life.

Three days after she was born, Maria was diagnosed with Prader-Willi syndrome. One person in every 10,000 to 12,000 is born with the disorder, which is the most common known genetic cause of life-threatening obesity in children. Once a drug is found to treat the disease, researchers anticipate it also may help other obese people lose weight.

“We’re working with what God gave us,” Mr. Vucci says. “When she was first born, everything looked gloomy. Her original prognosis was very severe. One doctor said she was brain dead. We’ve proven them all wrong. We are very determined parents. And she’s a very determined girl.”

Although Prader-Willi syndrome manifests itself in varying degrees, it usually causes an obsession with food, which results in excessive weight gain, starting between age 1 and 6, in the absence of intervention. It usually is accompanied by low muscle tone and a low metabolic rate, which makes a person burn fewer calories. Mental retardation, short stature, behavior problems and incomplete sexual development also are common, but life expectancy is normal.

To give Maria the best life possible, Mr. Vucci injects her with a growth hormone every day, which her parents hope will increase her stature and strengthen her muscles. The Food and Drug Administration in 2000 approved this relatively new therapy to treat Prader-Willi syndrome.

Maria attends speech, occupational and physical therapy. With the help of her father, she also takes part in regular exercise to build muscle. She previously wore prescription eyeglasses and braces for her back and feet. To her parents’ relief, Maria hasn’t tried to hoard food yet. In fact, right now, she is known to share food and recognize when she feels full.

However, the Vuccis emphasize that this behavior may change as she grows older. In the meantime, they are hoping for the best and trying to teach Maria about Prader-Willi syndrome. Other characteristics associated with the disorder can include temper tantrums, violent outbursts, obsessive-compulsive behavior and a tendency to be manipulative.

“We don’t take anything for granted with her,” Mr. Vucci says. “You don’t leave things open-ended. You give her one choice or the other. She needs a structured life.”

Early diagnosis is key to ensuring the best lifestyle for children with Prader-Willi syndrome, says Janalee Heinemann, executive director of the Prader-Willi syndrome Association (USA) in Sarasota, Fla. Once a diagnosis is made, the child can be treated with hormone therapy, diet restrictions and physical therapy.

Mrs. Heinemann’s stepson, Matt, 30, was diagnosed with the illness at 3 months. He lives in a structured environment where food is secured under lock and key. At 5 feet 9 inches, he weighs about 145 pounds.

“He understands this is the way he has to live to save his life,” she says. “He would sneak food in a heartbeat. If you feel like you’re starving to death, you sneak food.”

Not everyone with the disease is fortunate enough to have an early diagnosis. Many pediatricians, neonatologists and geneticists are unfamiliar with the syndrome, Mrs. Heinemann says. Therefore, some people grow up with the illness, not realizing help exists.

The syndrome was discovered in 1956 by three Swiss physicians, Dr. Andrea Prader, Dr. Heinrich Willi and Dr. Alexis Labhart.

“A child with the syndrome cannot control their own eating,” Mrs. Heinemann says. “It really has to be everyone else’s responsibility. One kid who ran away gained 24 pounds in seven hours. Another girl with her grandparents over the holidays last year gained 54 pounds in 13 days.”

The disorder, which originates from an abnormality on chromosome 15, is caused by a loss of yet unidentified genes usually contributed by the father. DNA methylation analysis confirms diagnosis of the syndrome, says Dr. Ann Scheimann, associate medical director of the feeding disorders clinic at the Kennedy Krieger Institute in Baltimore.

Along with other researchers through the National Institutes of Health in Bethesda, she is trying to find a drug that will treat the syndrome. Current studies show people with the illness have high levels of ghrelin, at least five times the amount of a healthy person. The chemical, which is produced in the brain, inhibits appetite-suppressing neurons.

Therefore, Dr. Scheimann and her colleagues, including Dr. Dan Driscoll at the University of Florida College of Medicine in Gainesville, are trying to create a medication that will change or block the message sent by ghrelin so people with the disorder can feel full. Because obese people without the syndrome also create larger amounts of ghrelin, Dr. Scheimann anticipates that this drug could help persons who do not suffer from Prader-Willi syndrome.

“Researching this disease may help people across the board who struggle with weight issues,” she says. “NIH has been interested in helping as well as the rest of the population.”

Intense hunger has caused Kate Kane, 22, to scheme to obtain food, says her father, Jim Kane of Towson, Md. Once she persuaded a local sub shop to open early on a Sunday morning to deliver food to her home while her parents were away for one hour. She also asked representatives from Mrs. Fields Cookies to slip some sweets under a hotel door while her parents were briefly out of the room.

“Kate is very creative and inventive on ways to get food and keep it hidden from us,” Mr. Kane says. “She’s pretty slick. It’s incredible her focus on food, how complete it is and how much it controls her thought process, but she is a very sweet and compassionate person.”

Miss Kane lives in a controlled environment at the Margaret Ruth House in Oconomowoc, Wis. Mr. Kane is hoping a similar home can be opened locally so she can return to the area.

“I just try to eat what I should,” she says. “Other people help me by making sure I eat the right stuff. I know they are trying to help me do the right thing, but sometimes I get mad.”

However, having Prader-Willi syndrome doesn’t ensure a person won’t be a picky eater, says Susie Wood of Easton, Md., whose 6-year-old son, Peter, has the disorder. She is hoping he will remain disciplined in his diet as he becomes older.

“There are quite a few things out there that Peter doesn’t like to eat,” she says. “He doesn’t like broccoli sometimes, or carrots. He doesn’t like melons, or mushrooms.”

As Sydney Planton, 8, of Reston grows into adulthood, her mother, Sherri, also is wary of the changes that might take place in her daughter. Sydney hasn’t yet become rebellious in her attempts to consume food.

“We have heard of other families where kids try to get food out of trash cans,” Mrs. Planton says. “It’s not as bad for us, but if we put a bag of potato chips in front of Sydney, she would definitely want to eat more than her fair share.”