Redondo Beach, CA (PRWEB) April 21, 2009
Infants born with a rare medical disorder called Prader-Willi syndrome, pronounced Prahder Wilee, have severely weak muscle tone and would likely die without medical assistance to feed. Beginning in toddler hood and lasting throughout their lifetime, something in the brain fails to recognize the signals of satiety, or fullness, after eating causing an overwhelming, unrelenting drive to eat. At the same time, the body's metabolism slows to about half the normal rate, causing massive weight gain over a short period of time. No medication currently exists to manage the appetite symptom caused by PWS, and without constant supervision and restricted access to food, twenty-four hours a day, every day for the rest of their lives, persons with PWS will die prematurely from this devastating non-inherited genetic disorder. Learn more at the Walking for Prader-Willi Syndrome events in California on April 26 and May 16 or visit http://www.PWCF.org.
While there is no cure for Prader-Willi syndrome there are management strategies that improve the quality of life and, says Lisa Graziano, Executive Director of Prader-Willi California Foundation, there is great hope. Current research into Prader-Willi syndrome continues to shed light on the body's appetite regulating systems and may help produce treatments for not only persons with Prader-Willi syndrome, but the general population as well.
It is estimated that anywhere from 18,000 to 25,000 people in the United States have Prader-Willi syndrome (PWS) but fewer than half of those with the disorder know they have it despite the availability of a blood test and the presence of a host of other symptoms including delayed developmental milestones, short stature, small hands and feet, cognitive impairment, learning disabilities, speech and language problems, irregular pain and temperature regulation, vision problems, balance, coordination and sensory deficits, scoliosis and other orthopedic issues, incomplete sexual development, and emotion regulation problems that typically lead to behavior problems - sometimes severe behavior problems.
Not having an early diagnosis can be devastating. With the widespread problem of obesity in the general population, physicians typically, and understandably, fault parents for overfeeding and indulging their child. Says Graziano, "I've spoken with a number of parents who've felt helpless, blamed, and shamed by physicians who never suspected their child's massive weight gains and behavior problems could be caused by PWS. For too many, these are wasted years where their child received no appropriate interventions and the family has endured extraordinary emotional and often financial stress."
Graziano's son is one of the lucky ones who was diagnosed with Prader-Willi syndrome by a blood test shortly after birth when his pediatrician who suspected he may have PWS because he had such low muscle tone. "Cameron was so floppy during infancy. He couldn't suck, move his arms or legs or his head; he could barely stay awake. It was gut wrenching and very, very scary. Because we had an early diagnosis, though, we've been able to provide him with lots of early intervention help and anticipate and prepare for potential challenges. Today, Cameron is 10 years old and doing really well. He works hard in school, has friends, stays active, and is a healthy weight. Sure, he faces challenges on a daily basis and there is constant vigilance over his access to food, but he's a great little kid who's enthusiastic about his life. We try to take everything one day at a time and we pray for research to develop a medication to eliminate the constant hunger that is caused by PWS."
Prader-Willi California Foundation is hosting its 9th annual Walking for Prader-Willi Syndrome events to raise awareness of Prader-Willi syndrome and funds to support its programs that assist persons with PWS and their families. The Walk events will take place on Sunday, April 26 in Van Nuys, California and Saturday, May 16 in Berkeley, California. For more information about the Walks or about Prader-Willi syndrome call 310-372-5053 or visit http://www.pwcf.org.