Prader-Willi A Struggle In World Filled With Food
Greg Gaver is sitting at his family’s dining room table in Granger, Ind., speaking congenially about his high hopes for his future, when his attention abruptly shifts and his head swivels toward his mother.
“Can I have dinner?” the 21-year-old asks intently.
His mother, Debbie McKissick, nods and quickly replies, “You’re going to have some leftover lasagna and a big salad and some fruit.”
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Greg’s dinner is a little earlier than normal on this late afternoon, but Debbie knows how important it is to avoid an emotional meltdown.
The Goshen teacher steps into the attached kitchen, removes the chain padlocked around the family’s refrigerator and sets about pulling out and preparing food, all the while speaking with a reporter about a syndrome that in many ways rules their family’s life.
Greg’s eyes are trained on his mother as she dishes out the lasagna left from the rest of the family’s dinner the night before. He says quickly, “You don’t have to warm it up, I’ll eat it like that.” But Debbie responds, “No, I’m going to heat it up a little first.”
She pours some salad into a bowl. “Can I have some ranch, Mama?” he asks, and she removes a bottle of dressing from the refrigerator. “Will you mix it up a little?”
Greg devours his dinner quickly, no savoring or small talk involved.
After unlocking the pantry next to the refrigerator, Debbie retrieves a bag of snack mix and scoops a half-cup into a baggy and sets it on the counter. Greg will eat that in his room later, while the rest of the family sits down to dinner. Leftovers will be saved for Greg’s hastily prepared dinner the next night.
The family has devised this routine to cope with Greg’s insatiable need for food and other behavioral issues associated with Prader-Willi syndrome, a chromosomal disability that has affected him since birth — and for which there is no known cure.
When food can kill
American life revolves around food. If you think that’s overstated, ask any of the families coping with the effects of Prader-Willi.
We socialize over lunch or dinner. We celebrate birthdays and other significant events with lavish desserts. We reward children and show our love by bestowing treats. We even partake of fellowship in our houses of worship in the guise of coffee klatches and potlucks.
Freely available food permeates our culture so much that obesity is at record levels in this country.
For a person with Prader-Willi syndrome, that availability is not only a life sentence of frustration, but a very real threat to survival.
PWS is a collection of symptoms created by an abnormality of the 15th chromosome.
When born, infants cry very little and have low muscle tone and an inability to suck. For the growing number of pediatricians who recognize the possibility of PWS, genetic testing can confirm a diagnosis earlier than ever before.
A couple of chromosomal variations are known, but generally, those who suffer from PWS experience differing levels of the same traits: lower IQs; some obsessive-compulsive characteristics including skin picking and behavioral outbursts, particularly as they enter adolescence; high tolerance for pain; slow growth; low metabolism; and underdeveloped reproductive systems.
But the most life-defining PWS symptom is that of an insatiable, all-controlling hunger.
‘In my head’
Greg Gaver, who speaks with an expressive vocabulary and reads at a sixth-grade level, describes the urge as not so much physical but mental.
“I never feel full. It’s impossible,” says the red-haired young man, who explains the bandage on his face as a result of picking so much at an itchy spot that he drew blood.
He understands that his hypothalamus, a part of the brain that controls such bodily functions as temperature regulation and hunger, doesn’t work the same as it does in other people.
The need for food, he says, is “more in my head.” Greg declares that the only food he does not like is radishes.
His mother, Debbie, points out that in Greg’s constant quest to eat, he has ingested garbage, nagged friends for food, even swiped the contents of a neighbor’s garage refrigerator.
“Left to his own devices, he will eat until his stomach ruptures,” she says, “and that is instant death.”
Homes with those who have PWS contain locked-up kitchens and cabinets. Some have alarms. Computers are watched. Money is hidden away.
Jill and John Boughton moved into their South Bend home about four years ago, after they realized they needed a more secure kitchen.
Their now-22-year-old daughter, April, the youngest of their six children, was diagnosed with PWS when she was about 10.
“I recall one night when we got a call at midnight: ‘This is an officer from South Bend police. Do you have a daughter, April?'” John says. April, then about 12, had been caught stealing candy at a nearby Martin’s. She had sneaked out of her bedroom window.
Later, after she’d been similarly found at a Meijer store, they invested in window and door alarms.
Upon arriving home one day, they found an empty case of Pop-Tarts. “April is very clever,” John says, “and she discovered she could order food online.”
Testing the system
Dr. Bryan Hainline, a biochemical geneticist for Riley Hospital for Children at Indiana University Health in Indianapolis, has treated Prader-Willi children for more than two decades.
He is upfront with parents, even those of newborns who haven’t yet exhibited the extreme hunger or other defining manifestations.
Testing, diagnoses and treatments have advanced greatly, Hainline says. Growth hormone can help with body mass and muscle tone, improving metabolism and slowing the rapid weight gain that haunts those with Prader-Willi. Anti-depressants such as Prozac can combat common behaviors, such as temper tantrums and violence, that emerge in adolescence.
Even so, Hainline says, no cure exists for what is a tiring and difficult syndrome for parents to manage.
In a society that tends not to restrict food, parents have a difficult time grasping the need to save their children from themselves by encouraging exercise and greatly restricting calories.
“These are children that test the system very much,” says the doctor, who has counseled PWS parents from all walks of life, even teenage mothers especially challenged by the level of supervision and compromise their children will require their entire lives.
“I counsel people that about 10 percent of children with Prader-Willi will have normal intelligence,” Hainline says. “Functionally, even that 10 percent will never be able to live in normal society.”
Historically, those with Prader-Willi usually died from the consequences of morbid obesity, Hainline says. Some have died after eating unchecked, until their stomachs burst.
A more common scenario in the last 20 years — with more attention now paid to combating obesity earlier — is that somebody will catch a Prader-Willi person with food, prompting frantic stuffing into their mouths and choking them to death.
‘It was horrible’
Ann Umbaugh, of Nappanee, Ind. knew something was wrong when Andy, the youngest of her three sons, was born.
“We’d never heard of it,” she says of the PWS diagnosis. “They said there’s no cause, no cure, no treatment. We were stunned. They said, ‘Take him home, live your life.'”
That was easier said than done, especially with other children in the house, she recalls now.
“You don’t believe it,” she says. “You think you’re going to beat it.”
But before they realized it, Andy, now 31, had ballooned to almost 375 pounds at 5-foot-4-inches tall.
“Anything he looked at, he gained weight. It was horrible,” Ann says now. Until then reluctant to deny food, the family finally realized they needed to focus on Andy’s weight.
In the last dozen years, Andy has lost almost 200 pounds. His parents encourage exercise; Andy walks around Nappanee, where everyone seems to know him and watch out for him, his mother says.
But even then, occasionally they learn of someone buying or giving him food along the way, or that he’s stopped to buy popcorn at the movie theater.
On a week’s vacation, when they don’t want to deny him so stringently, “he can gain 20, 25 pounds, and then he takes a year to get it off,” Ann laments.
Even worse, she says, is the skin picking.
Andy has had an infected, open wound on his thigh for years that won’t heal and he can’t leave alone; what began as a mosquito bite is now 5 inches long and 1.5 inches wide. The obsessive tendency is enabled by his high pain tolerance.
“It almost drives us more crazy than the food,” she says of the constant picking that leaves blood on clothes and sheets. “You can’t lock his leg, you can’t lock his hands.”
Like other PWS families, the Umbaughs store food behind lock and key, count calories and find other ways to allow control. Every day, for instance, Andy devises his own menu for the next day.
PWS sufferers usually eat separately — it’s too stressful for everyone involved in a family meal — and holiday celebrations with extended family and too many food temptations have to be restructured to avoid resentment and conflict.
And like other families, the Umbaughs skip out on many activities at their church, Nappanee Missionary, because of the pervasiveness of food there.
“To keep Greg safe and on an even emotional keel,” Debbie says of her son and church picnics and related events, “we can’t participate in those activities.”
The Boughtons rely on their Catholic faith to help cope with the constant strain of watching April and protecting her from the sabotage of even well-meaning family and friends.
They attend Mass regularly, and April says a higher power inspires her volunteer work, which includes giving Communion to fellow St. Joseph Catholic Church parishioners now in nursing homes.
Asked whether she can describe her constant urge to seek food, April thinks for a while before explaining what she calls the devil inside her.
“I’ve learned that a lot of times for me,” she says slowly, “that it’s the enemy attacking.”
© 2012 the South Bend Tribune
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