Even more than food, Aubrey Uhl craves relief from her rare disorder.
Aubrey Uhl can’t find her snack. Usually that’s a good thing, but not today. Not this snack. This is a snack Aubrey is allowed to find.
Aubrey looks on the counter. She looks on the kitchen table. She glances at the pantry and searches downstairs, near the padlocked refrigerator secured with two combination locks.
As Aubrey searches downstairs, her 16-year-old brother, Paul, starts to lock things upstairs. He pushes the metal lock on the refrigerator shut. Click. He checks the pantry. It’s closed and locked. He picks up his keys from the counter and places them safely in his pocket. There. No loose food.
Because of Aubrey’s condition, a rare genetic disorder called Prader-Willi syndrome, she is always hungry. Some who have the disorder have literally eaten themselves to death.
To protect her, Aubrey’s family keeps all the food in their Dearborn, Mich., home locked away. They keep the tools, which she has used to break the locks, hidden. They lock their bedrooms, where there’s loose change that could be used to buy food. They never let her go out alone, since she has shoplifted food.
Aubrey, 17, is still searching for her snack. She walks up the basement stairs. She is hungry.
Where is it?
Though she’s frustrated today, she likes the daily snack hunt because she usually wins the game.
Prader-Willi syndrome, a genetic accident in which the body’s internal register never measures full, is an ailment that revolves around a particularly cruel combination: an overwhelming desire to eat tied to a metabolism only about half as efficient as that of a typical person.
Prader-Willi is one of the leading known causes of obesity. People with Prader-Willi always feel hungry. Hunger wakes them in the middle of the night. Hunger leads them to do bizarre things.
The illness affects an estimated 19,000 people in the United States. It typically causes lifelong behavior problems and mental retardation ranging from slight to severe. It also causes sterility, diabetes, behavior problems such as extreme stubbornness or temper tantrums, a tendency to pick at the skin and, often, a premature death from complications of obesity.
Doctors know that Prader-Willi is caused by a genetic defect in the 15th chromosome, but at present there is no cure.
For parents of children with Prader-Willi, life becomes an exhausting cycle of kitchen lockup and calorie counting, of driving youngsters to physical and occupational therapy, of always being on guard against opportunities their children may have to sneak food.
Aubrey has been caught rummaging through trash cans, stealing money from family members, eating a jar of garlic salt. Aubrey’s mom and stepdad, Alice and Maurie Phelps, started locking her in with them at night after Alice Phelps caught her sneaking out while they slept.
This is a desperate hunger.
“Have you ever been on a diet? You know how you feel hungry? Well, this syndrome is like that, only it’s a hundred times worse,” says Janalee Heinemann, executive director of Prader-Willi Syndrome Association, U.S.A., headquartered in Florida.
“You’re so hungry you can’t stand it. The urge is too great to resist. All you want to do is eat.”
The syndrome gained national attention after Christina Corrigan, a 13-year-old California girl, died in November 1996 weighing 680 pounds. Christina’s mother, Marlene Corrigan, 49, was convicted earlier this year of child abuse and was sentenced to three years’ probation, 240 hours of community service and was fined $100.
The defense suggested Christina had Prader-Willi syndrome, though it was never medically confirmed.
Finding doctors to recognize and diagnose Prader-Willi syndrome is not always easy. The syndrome is rare, and may look like other things, even though relatively new blood tests make it easy to confirm. Dr. Erawati Bawle, chief of the genetics division at Children’s Hospital of Michigan, says there are two laboratory tests that can detect Prader-Willi by searching for abnormalities on the 15th chromsome.
One test, which costs $250-$300, examines the DNA. Another test, which costs about double that, zeros in on the chromosome and is usually given when the doctor already suspects Prader-Willi, Bawle says.
Heinemann says she hears from frustrated parents every week.
“Unfortunately many, many families just don’t know,” she says. “There’s not a day that goes by that we don’t get a call.”
Aubrey has given up looking for her snack. She knows her mother will soon call and tell her where it is. The cat and mouse search for her after-school snack is a game Aubrey and her mom play.
