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March 1, 2006Statistics hit homeFamilies cope with rare Prader-Willi Syndrome
Brooke Slabaugh has a rare genetic syndrome that causes extreme hunger and overeating that can lead to life- threatening obesity. "They knew something was wrong because she was a really floppy baby, she didn't have any muscle tone, she couldn't suck," said Burwell, a South Boardman resident who lived in southern Indiana at the time. Paige was flown to nearby Cincinnati Children's Hospital, where doctors diagnosed Prader-Willi Syndrome, a rare genetic syndrome caused by a disorder of Chromosome 15. It is characterized by poor muscle tone, short stature, incomplete sexual development, cognitive impairment, behavior problems, and a chronic feeling of hunger, among other things. After three weeks, Burwell took Paige home to begin the sometimes arduous journey that is life with "PWS," as it is called. Helping her along the way was the Prader-Willi Syndrome Association based in Sarasota, Fla. Prader-Willi affects one in 12,000 to 15,000 people, according to the University of Michigan System Health Site. Although considered a rare disorder, it is one of the most common conditions seen in genetics clinics. At Kids Creek Children's Clinic in Traverse City, PWS is seen "very rarely," said office manager Cyndi LaMonde. Even then it is difficult to diagnose. "The children have to go through a lot of tests to formally diagnose it," she said. While infants with PWS often have feeding problems and poor weight gain, older children exhibit extreme hunger, overeating and an obsession with food that can lead to life-threatening obesity. Dealing with that obsession is the single biggest challenge for Paige, said Burwell, 29. "She'll eat and 10 minutes later she'll still be hungry," she said. "Her whole day revolves around what she gets to eat." Because children with PWS must maintain a balanced, low-calorie diet, many parents have to restrict access to food by locking their cabinets and refrigerators. Outings where food is are harder to control. "Holidays at other people's houses and snack days at school are especially hard," said Kathy Slabaugh, whose daughter, Brooke, also has PWS. "She can only have half of a cookie or a morsel while others get a whole piece of cake." Like Burwell, Slabaugh, 48, carefully monitors what her daughter eats. Anything that looks or smells like food - even pumpkin-scented candles or artificial grapes - is a danger, she said. "All of these things a PWS person will inhale fast so you don't see - ingest fast and then choke or be poisoned by it," she said. "Many have passed on due to this, and they do not have the (gag) reflex to throw it up." To help curb Brooke's overeating, Slabaugh encourages her to leave a little on her plate each meal to "donate" to starving children. After the food is wrapped up and frozen, Slabaugh makes a financial donation to a children's hunger fund. While there is no cure for PWS, prevention of obesity, therapy and medications like the Human Growth Hormone (HGH) can improve the quality of life for those living with the syndrome. Paige was obese at 2, and began taking growth hormones as soon as they were approved, Burwell said. Now she's at a normal height and weight for her age. Besides her regular doctor, she sees an endocrinologist twice a year. Though the hormones can also help with attention span, Burwell said Paige struggles with learning. She attends a Physically or Otherwise Health Impaired class at Eastern Elementary School in Traverse City, where she is in the second grade. "She'll be in a regular classroom more next year, so it's going to start to be more of a challenge for us as far as her fitting in and keeping up with homework," Burwell said. Brooke, 8, is in the third grade in Harbor Springs, where she is part of a multi-age classroom and two "learning center" classrooms. She uses a "SpeechEasy" device that provides altered auditory feedback to inhibit her stuttering, a common speech and language difficulty of those with PWS. Despite her disabilities, which include unrelated eye and liver diseases, she is a member of the Crooked Tree Brownie Scouts and the Exceptional Riders Club at the Bay Harbor Equestrian Club and attends summer camp at Camp Daggett. She proudly wears an orange rubber "Prader-Willi" bracelet sporting the organization's sunshine logo and her name. "She's got such a strong will," said Slabaugh, a support parent for Children's Special Health Care Services, a Michigan Department of Community Health program that helps kids with special needs. "Her 14-year-old brother, Kole, has been inspirational." Slabaugh believes too many PWS support groups focus on the "sad" aspects of the syndrome rather than on fighting for a better quality of life for their children. "It is a very hard life when I look at it, when you see regular households function without limitations," she said. "But it's ours and we make the best we can of each day. "You can't be sad because life is hard. You just have to get up and make it work. You can, with consistency, live every day happily." Burwell said she doesn't think much about what the future holds. "We just go day to day and try to make that day a success," she said. "(Paige) is just a joyful, loving child and that's a real help." For more information about PWS, contact the Prader-Willi Syndrome Association at (800) 926-4797 or www.pwsausa.org.
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