Prader-Willi Syndrome (PWS) is a relatively rare disorder of chromosome 15. The genetic cause of Prader-Willi is the absence or loss of three genes normally contributed by the father, and it is often difficult to diagnose.
PWS is characterized in infancy by hypotonia or undeveloped muscle tone, failure to thrive, and problems with feeding. As babies grow into children, emerging features of PWS include: Short stature and retarded bone age, underdeveloped sex organs, delayed developmental milestones, characteristic faces, small hands and feet, and cognitive disability.
Before the age of six, most children diagnosed with PWS will experience global developmental delay, and older children will experience mild to moderate mental retardation or learning problems.
Some other difficulties that may accompany PWS are: Nighttime enuresis (bedwetting), sleep disturbances due to hypoventilation and desaturation, sleep apnea, scoliosis, skin-picking, osteoporosis, and dental problems.
While all of the features above are difficult for parents of children with Prader-Willi to deal with, there is one more characteristic that is perhaps the most heart-breaking: Insatiable appetite and compulsive eating, which if uncontrolled, can be life-threatening.
A flaw in the part of the brain that determines satiety or hunger is the cause of the insatiable appetite. PWS sufferers simply never feel full, so they fight an intense and overwhelming battle with compulsive eating. They will steal, lie, cheat or do anything they can think of to get food to try and relieve their chronic hunger. Before the age of six, most PWS children begin this food obsession and are forced to try and deal with compulsive eating that they cannot understand. Because the patient cannot control himself parents or caregivers find themselves in the tough position of having to constantly and forcefully deny their children food.
There is no cure for Prader-Willi syndrome, nor is there much in the way of treatment at this time. People who experience the disorder most times cannot live independently. Severe cases need supervision 24 hours a day or they will simply eat themselves to death. Their lives can be difficult, but it may be even worse for their parents and caregivers.
One mother described her situation like this: “Imagine those times when you told your child he couldn’t have a cookie before dinner. Now imagine doing that at least a hundred times a day and accompany it with padlocked refrigerators and cupboards. He [her child] cries and begs for food constantly, always telling me how hungry he is. It just kills me inside.”
In addition to food behavior issues, there are other compulsions in general to deal with in Prader-Willi sufferers. These compulsions along with temper tantrums and strong resistance to routine changes challenge the lives of the entire family. Adherence to daily routines, schedules and structures can help manage these problems and medication can be considered if all else fails.
While there is currently no cure for Prader-Willi syndrome, several treatments appear promising: early diagnosis and intervention, growth hormone treatment, limiting all access to food, and daily exercise. With these interventions in place, outcomes can be optimized in persons with PWS and their families struggling with Prader-Willi syndrome.1
With patience and good guidance, people with PWS can have fulfilled lives. They can finish school, work at a meaningful job, and in some cases live independently. The one thing above all others that can help people with Prader-Willi syndrome is acceptance. Peer groups for children with PWS and their families can help everyone feel less alone and may even provide opportunities for improvement for compulsive eating issues.
Sources
1. Safe Slimming, http://www.safeslimming.co.uk/PraderWilliSyndrome.html
2. Special Child, http://www.specialchild.com/archives/dz-009.html
3. Prader-Willi Facts, http://prader-willi.com/facts.htm
