Living With PWS
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.
Next: Controlling PWS
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Mysterious Diseases
Automysophobia
Characterized by intense feelings of anxiety and dread, automysophobia is the fear of being dirty. People who have automysophobia are overcome with fear about getting dirty or being around things that are unclean. Symptoms can include severe panic attacks, intense feelings of dread and an increased heartbeat.
A person suffering from a phobia like automysophobia, can be overwhelmed with anxiety and fear at both the presence and the perceived presence of their particular phobia trigger. Anxiety disorders and phobias like automysophobia can be treated with cognitive-behavioral therapy, relaxation techniques and other courses of treatment.
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Dissociative Amnesia
If 32-year-old former police office Andy Wray is away from his family for more than 48 hours, he forgets who they are. Wray suffers from dissociative amnesia, a disorder that causes extreme short-term memory, reports "The Daily Mail."
Doctors attribute Wray's dissociative amnesia to the stress and dissociative anxiety he endured during his four years in the police force. Two years after retiring from the force, he suffered from a breakdown related to the trauma he had witnessed on the job. He experienced periodic headaches and bouts of dizziness, and when he went to a local hospital for treatment, he was found wandering the halls with no memory of who he was.
Though he can still recall historical events and skills like driving a car, Wray's reserve of personal memories is gone. Milestones like his marriage to wife, Jo, and the birth of his daughter, Chloe, have all been wiped from Wray's memory. He even has to carry a piece of paper with his name and address on it in case he gets lost.
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Incurable Hiccups
For two years, Christopher Sands (pictured), 25, suffered from incurable hiccups. By his own estimates, Sands hiccupped every two seconds for 12 hours per day, adding up to an astounding 7.9 million hiccups a year, reports the Daily Mail. He has had to give up working and driving and struggles to sleep or keep down food. After trying every cure imaginable -- from hanging upside down to sitting in a compression chamber to even having surgery on a stomach valve -- Sands finally uncovered the culprit. He has an inoperable brain tumor.
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Causes of persistent or intractable hiccups -- those that last longer than a month -- can run the gamut from the largely benign, such as gastroesophageal reflux or a sore throat, to more acute central nervous system disorders, including stroke, cancer or an infection. While very rare, intractable hiccups can cause exhaustion, lack of sleep, and weight loss.
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Severe Allergies
Ten-year-old Molly Harrad suffers from severe allergies that cause her skin to breakout in blisters and a rash if she so much as handles loose change or wears rubber-soled shoes, reports the Daily Mail. She wears 100 percent cotton gloves, socks and clothes at all times to prevent her skin from coming into contact with potentially harmful substances. Even walking across the carpet can trigger painful blistering. At school, an assistant specially prepares her lunch to prevent food contamination that could elicit anaphylactic shock. While she's been diagnosed with various food and skin allergies, doctors are still puzzled by her severe condition.
Jamie Wiseman, Daily Mail / ZUMA Press
Dissociative Fugue
When police found Emily's family, she couldn't recognize her own children, and it took her more than a year to recover her memory. Her brain scan was normal and revealed no obvious causes of her amnesia, which led doctors to diagnose her with dissociative fugue.
According to the Mayo Clinic, people with this condition dissociate by putting real distance between themselves and their identity. For example, you may abruptly leave home or work and travel away, forgetting who you are and possibly adopting a new identity in a new location. A fugue episode may last only a few hours or, rarely, as long as many months. Dissociative fugue typically ends as abruptly as it begins. When it lifts, people may feel intensely disoriented, depressed and angry, with no recollection of what happened during the fugue or how they arrived in such unfamiliar circumstances.
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Panhypopituitarism
With the delicate, baby-like features of only a two-year-old, 26-year-old Jerly Lyngdoh is reminiscent of a real-life Benjamin Button. The only distinguishing trait revealing this 22-pound man-baby's true age is a full set of adult teeth, as reported in Metro.
At only 2-feet 9-inches long, Jerly Lyngdoh (pictured) suffers from what doctors believe is a severe case of panhypopituitarism. The condition, which can result in a shortened lifespan, occurs when the pituitary gland becomes damaged and cannot secrete growth hormones resulting in short stature. Lyngdoh, 26, lives in Meghalaya, northern India with his parents, who dress him in baby clothes. He is only four inches taller than the world's smallest man, China's He Pingping.
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Uncontrollable Belching
For the past two years, Jean Driscoll, 72, has barely been able to venture outside her home in the United Kingdom due to uncontrollable belching.
Two years ago, Driscoll began experiencing chest pains, which led to the irrepressible, noisy belches. Since then, Driscoll has spent more than $1,400 on prescription and over-the-counter medication that have neither treated nor cured her, and she has left two doctors and three hospitals scratching their heads.
Eastnews Press Agency Limited
Swallow Syncope
We all know the dangers of drinking and driving, but how about eating and driving? A 25-year-old woman from Birmingham, England routinely passed out behind the wheel if she tried to eat a sandwich or sip her soda. Doctors routinely checked her blood, thyroid and pituitary glands but found nothing. She didn't smoke, drank only a little and didn't use drugs. Finally, doctors discovered that she suffered from "swallow syncope," a rare disease that causes the patient to lose consciousness when too little blood flows to the brain. In this woman's case, a delay in the electrical signals between the upper and lower chambers of the heart caused the pauses between her heart beats to last up to 2.5 seconds, which resulted in fainting spells. The delay was attributed to an intertwining of nerve systems in the throat and brain. To ease the condition's effects (and allow her to eat in peace), doctors installed a pacemaker to regulate heart beats.
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Prosopagnosia
What if you couldn't recognize anyone's voice but Sean Connery's? That's exactly what happened to a british woman known only as KH, as reported by MSNBC. For years KH couldn't identify the voices of others, including her own children. She read about a disorder that sounded similar to her own, called prosopagnosia, also known as face blindness. After extensive testing, doctors concluded that she is the first documented case of someone born without the ability to recognize familiar voices. Although, doctors have seen a similar condition before, phonaganosia, but this typically occurs after a stroke.
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Aquaholics
We've been taught that water will make us feel better and look younger, but did you know that drinking too much water can kill you? Andrew Else, 51, from the United Kingdom, was found dead after ingesting a massive amount of water from a garden hose. Else was suffering from a rare "aquaholic" disorder that resulted in an inability to quench his thirst for water. Aquaholics will go to great lengths to satisfy their urges. When undeterred, they can suffer and eventually die from water intoxication, a condition that affects brain functioning and can result in heart failure when overconsumption of water dilutes sodium and potassium levels in the body.
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Recent Comments
Mewastingtime 07:30:00 PM Sep 06 2009
My daughter has this syndrome. All I can say is....you people have no idea what you are talking about.
kluttzie221 06:56:54 PM Sep 06 2009
Interesting. I have read mostly uneducated and ignorant comments concerning this disorder. Educate yourself. www.pwsausa.org You never know, your child could be born with this genetic disorder.
Survivingtheoc 05:07:49 PM Sep 06 2009
I worked w/ a girl (27 yrs. old) she was almost 6 ft. tall, very thin. Depending on the time we started work, 4 hrs. later would be our lunch hr. Her's was 11:am, she would go have lunch, then when someone else went at 12:pm, she would ask to get her something from wherever were going, then the 1:pm people went, she wanted more, it wasn't always sweets, she wanted a full meal, or maybe a hamburger, then the 2:00pm (me) went, she wanted more...I don't know if it was her metabolism or what! She still stayed thin, I would like to see her now, Hope she looks the same. One time she left a fish sandwich in her desk, "forgot about it", over the weekend....Wow what a smell!
Sintoodoo22 03:22:11 PM Sep 06 2009
My aunt had a similar condition, although she only gained weight in her ass for some reason....doctors were baffled, and she wound up having to have her son follow along behind with her ass in a wheelbarrow....as tragic as it was, I will have to say that it was pretty funny watching her try to dance with my cousin whirling around behind her trying to keep up with that wheelbarrow....oddly enough black guys hit on her all the time...
HookedOnPARIS 03:14:43 PM Sep 06 2009
I might add that if she wants to have that full feeling all the time, drink more water! Zero Calories and it'll clean her out. Plus, eat foods more rich in fiber!
HookedOnPARIS 03:11:27 PM Sep 06 2009
I DO feel sorry for this woman, but what on EARTH is jelly, cake and other sugary filled foods doing in her house when there ARE other MUCH better foods that are sweet 'n tasty, naturally, like fruit...watermelon, peaches, kiwi, grapes...foods that won't pack on the weight! In fact, watermelon is a diet food...and a diuretic, so she certainly HAS options! She can quit sabotaging herself by NOT bringing sugary junk food into her home in the FIRST place. Since she has this UNcontrolled ability to eat, she really needs to do her homework because her very LIFE is at stake! She NEEDS to get really serious about her plight, you know?! I sure would!
Frank665 02:54:29 PM Sep 06 2009
I bet most of the jerks on here saying stupid stuff like, Grembros: All you fat asses have some type of lame excuse that your fat. stop feeding your face with crap, and you wouldn't be fat. Or garysheski: Prader Willi? Looks more like FREE WILLY from here!, are smokers that are too lame to quit. Yet they somehow feel better downing someone with a real problem. I worked for 9 years taking care of a woman that suffered from PWS and take it from experience, they aren't happy with the need to eat all the time. How would you like to go through life always feeling hungry. There is no easy sollution like "Just stop eating!" This is a form of MR. AND, a 1,000 calories to them is like 2,500 to anyone else. That's what their metabolism is like. You lame JA's are the true morons in the world, why did you even read the article? Or did you just look at the photo and decided you had nothing better to do sitting in your parents basement living your boring useless lives then write someting to show jus
RileyB136 02:52:46 PM Sep 06 2009
The best part of this comment thing is that the "naysayers" are just adding thier opinion to the article. Most of you are more worried about arguing and acting like children. Saying that these people are unintelligent because they do not believe it to be a real problem is stupid because they can believe whatever they want. You people should get a life and maybe a relationship so you actually have someone to fight with in real life rather then look up blogs to entertain yourselves by acting like you actually care about this woman and what people think about it.
