Prader Willi Syndrome

[imagood1]

I found this among my reading this morning - very interesting reading.



Shawn Cooper Struggles with Prader Willi Syndrome


Courtesy Dottie Cooper
By Katherine Tweed

The last time Shawn Cooper was craving sugar she ate an entire jar of jelly. Then she had some apple butter, and maple syrup too. One time she ate an entire fruit cake in one sitting. Shawn isn't a toddler with an overactive sweet tooth; she is a woman living with Prader -Willi syndrome (PWS). Prader-Willi syndrome causes a constant sense of hunger coupled with a drastically slower than normal metabolism. It is the leading genetic cause of obesity in children today, according to the PWS Association.

Shawn, 35, is literally always hungry. Her condition requires around-the-clock vigilance and years of self-discipline to keep obesity at bay. She was born with a deletion in one part of chromosome 15 that came from her father. The missing or turned off gene that cause PWS is fairly rare, with about 30,000 cases in the U.S. For every 10 babies born with Down syndrome, one child will be born with PWS.

Dottie Cooper, Shawn's mother, was in the dark for nearly a decade about what was wrong with her daughter. Dottie remembers the baby being almost immobile in the womb, barely kicking at all. She was only three weeks premature in November 1973, but at barely five pounds. The doctors asked if Dottie was sure the baby wasn't conceived earlier. Shawn's muscle tone was so weak that her shoulders drooped back over her mother's arm.

At first, it was her lack of appetite that was the problem. The newborn barely ate because she wasn't strong enough to suck milk. Today, many PWS babies are put on feeding tubes. Shawn ate from an eyedropper until she could take a preemie nipple. "We learned every small step for [a] baby was one giant step for Shawn," says Dottie. "We celebrated the little victories and we've done that all through our lives."

And slowly, victories came. Shawn's low muscle tone and small stature meant that she scooted and rolled on the floor at the time most children learn to walk. Finally, around 3 years old, she got on her feet. Even as the toddler got stronger, Dottie and her husband Dale carted Shawn to endless specialists. No one knew what was wrong with their daughter.

Not only did Shawn start walking, she also started eating. "Once it starts, it becomes very ravenous," says Merlin Butler, MD, PhD, FFACMG, professor of psychiatry, behavioral sciences and pediatrics at Kansas University Medical Center and a leading expert on PWS. "It's like 'oh great, now the baby is eating!' But then it goes from an interest to the extreme." People with PWS never get the full feeling that most of us get after eating. In brain scans Butler says that PWS patients actually get more stimulated when they see food after eating, creating a vicious cycle where food just fuels the desire for more food.

At 4 years old, Shawn was "real chunky." By the time she was school-aged, Dottie had to limit what she ate. The workers in the cafeteria were told not to let her buy anything. She had to sit with the teachers because other kids would slip her food. "It was hard," Shawn admits. "[Mom] would tell me and I'd end up eating the wrong thing at the wrong time. I'd be in tears because I was still hungry and I made a mistake."

At home, she had to be watched all the time. For a while, there was a padlock on the fridge. "I would find a way to get around it," Shawn says. "I'd find a way to get food."

The Coopers stopped just short of locking Shawn in her room at night. She was nearly 100 pounds at age 10, despite being far shorter than other kids. Around that time a friend of Dottie's dropped off an article, "Children With Rare Disorder Literally Eat Themselves to Death."

"It was like describing my daughter," says Dottie. The article was about Marge Wett's daughter, Lisa, who also had PWS. Dottie picked up the phone and called Wett, who was the first executive director of the Prader-Willi Syndrome Association in the U.S. "It was so comforting to talk to [the] one person in the world who knew what I was going through."

Dottie ordered a pack of materials that contained nearly all that was known about the disease at the time. Although the syndrome was first described in the 1950s, the genetics were not unraveled until the 1980s. By then, the age for diagnosis was about six years old. The average life span was the early 20s, Dottie read. "That excitement turned to a feeling of being afraid and very sad," she says.

[RitaCeleste]

I always thought that would be one of the worst illnesses to deal with. To never get full, to just hunger.