Living with Insatiable Hunger

Living with Insatiable Hunger

Children with Prader-Willi Syndrome live a different life.

When Amanda Diaz was born 10 years ago, doctors told her parents she would be more like a pet than a child.

"We were told these kids never live through adolescence, we were told she'll be like a dog — a good companion," said Steven Diaz of Oakton. "No parent accepts that, which is why she got the early intervention and the early therapy."

Amanda was born six-weeks premature, weighing two-pounds, three ounces with extreme floppiness of her muscles, one of many traits associated with Prader-Willi Syndrome.

Prader-Willi Syndrome is a complex genetic disorder that is seen in one in every 10,000 to 15,000 births and results from a deficiency in the 15th chromosome.

The syndrome typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.

"When they are born, they are very floppy due to low muscle tone and they have feeding problems — they don't eat because they can't suck," said Dr. Moris Angulo, pediatric endocrinologist and genetic specialist at Winthrop-University Hospital in New York. "They have a failure to try as an infant, which is the opposite of their childhood years."

The Diaz's said when Amanda came home after weeks of testing at the hospital, they were given dated information and no hope for their daughter who Stacey Diaz said reminded her of "Jell-O."

Stacey Diaz said she did all the research she could to learn about the disease, but realized the best knowledge came from trial and error with Amanda, and through communicating with other parents of Prader-Willi children.

Janalee Heinemann, executive director of the Prader-Willi Syndrome Association, said the organization provides, among many other things, a forum for parents to compare various successes and failures with drugs and therapies that they otherwise may not learn about.

The organization was created in 1975 to offer support and special programs to families of Prader-Willi children and now has more than 3,000 members across the country.

"If you can stay strict with a child in the first few years of their life," said Heinemann about necessary weight management, "the kids don't know they can push through their [hunger] temper-tantrums and win."

Angulo, who established one of the largest Prader-Willi Syndrome centers in the country at Winthrop-University Hospital, said around six-months is when children start to feed normally, and also when children are overfed because of their insatiable hunger.

AT NINE MONTHS the Diaz's said Amanda was working with a speech therapist to gain control of her tongue, and as she got older they enrolled her in physical therapy that involved horse back riding and more recently gymnastics to help her develop full muscle movement.

Because complications from obesity are the main causes of death for Prader-Willi patients, they also monitored her calorie intake, putting her on a 1,000-calorie a day diet.

"Her brain tells her she's starving all the time, she will seek food whenever given the opportunity," said Steven Diaz. "She'll grab it from anywhere, garbage cans, on the ground - it's constant foraging."

They explained even at school someone monitors her to make sure she doesn't steal food.

"She's compelled to [eat] because the brain is telling her she's starving," said Stacey Diaz. "She understands that she's not supposed to do it, but it disables the ability to perceive that she has in fact eaten."

Angulo said that recent medical developments, especially the Food and Drug Administration's approval of growth hormone use for Prader-Willi cases, has helped manage patient's metabolism and muscle growth, resulting in longer life expectancy.

But he added, the majority of doctors do not know about the disease.

Stacey Diaz said she takes Amanda to New York to see Angulo because he is the closest specialist.

"Most of the doctors talk with parents about Prader-Willi today based on what was written in the past," said Angulo. "Pediatricians are not geneticists ... parents have to teach them what the syndrome is about."

BECAUSE PRADER-WILLI patients have a high pain threshold, their temperature control doesn't work and they have no gag reflex, Angulo said doctors can easily misdiagnose illnesses.

He added that although there is still a lot to learn about the syndrome, compared to 20 years ago, children are living longer and doing better because of early diagnosis and intervention.

The Diaz's said because they can afford the necessary treatment for Amanda, she has been able to live a life that 10 years ago was unimaginable.

And the best part for them, Amanda loves it too.

"I get to ride a pony all by myself," said Amanda, adding gymnastics class has it's own perks. "I love jumping in the foam pit — everybody gets to jump in it and play, that's our free time."

"She's riding independently," said Stacey Diaz. "I never thought I would see the day ... when she could do all these millions of things at the same time."