Butler says that often those in the medical community will misinterpret or misdiagnose the early signs of Prader-Willi. Often, he notes, the lack of muscle tone and poor sucking reflex of these babies in early life — telltale signs of the condition — are thought to be due to a brain or spinal condition. Consequently, the true condition remains obscured for years.
But it's getting better. "In the 80s, the average diagnosis was at about 10 years old," he says. "Now, diagnosis most often takes place at 10 months or earlier."
Craig Polhemus is executive director of the Prader-Willi Syndrome Association, USA. The Sarasota, Fla.-based organization was organized in 1975 to educate families on and promote awareness of Prader-Willi and other associated disorders that involve similar behaviors.
"We have to get every parent with a Prader-Willi child to understand that preventing access to food is a life-and-death issue," he says, adding that awareness and counseling has already led to an improved quality of life for individuals and families dealing with the condition.
But despite the advancements, doctors have as yet been unable to devise any treatment to take away the ravenous hunger associated with the syndrome.
People with Prader-Willi "have to be supervised 24 hours a day, every day, for their entire life," Polhemus says.
Janalee Heinemann, Director of Research and Medical Affairs for the association, has a firsthand familiarity with these challenges. Her 34-year-old stepson has Prader-Willi, and she has been key to managing his condition since he was seven.
"The reality is, obesity kills," she says. "And with kids that gain weight that quickly, it can kill young."
To manage the condition, she says setting up a routine becomes crucial so that the child knows exactly when to expect food, as well as how much food and what kind of food will be available.
"It's tough love, it's hard," she notes. "In this society, so often we show love with food. So it's the one syndrome where you can love your child to death — literally love them to death."
And she says that the challenges associated with the syndrome change as children reach adolescent and teenage years.
"The older they get, sometimes the harder it gets," she says. "They want more freedom, but these kids require so many controls that they can't have this freedom.
"My son, he can't even take a walk by himself, because he might take a walk to McDonald's, or he might walk over to the neighbors' and talk them into giving him some food," she adds.
But though the appetites of those with Prader-Willi may never disappear, Polhemus says treatment with human growth hormone, or HGH, has represented a huge step in the management of the condition.
The treatment helps Prader-Willi children gain height and muscle tone, a recipe for an increased ability for these individuals to burn excess calories. So while the hormone does not help contain appetite, it does give the children and their parents a greater caloric margin of error.
Combined with medications to control depression and impulsive behaviors, the children have a chance for happiness.
"Today, he's tall, slim and happy," Heinemann says of her stepson. She notes that HGH has allowed him to gain height, while a strict control of his access to food and psychotropic medications have helped him control his weight and mood. The outcome, she adds, does not always have to be "dismal."