Basic facts: Prader-Willi is a genetic disorder that results from an abnormality on the fifteenth chromosome. There are three different errors that can cause the disease and it is usually caused by the loss of a chromosome contributed by the father. Estimates put the prevalence as 1:15,000 births.
Initial Presentation: Prader-Willi presents in newborns as a “failure to thrive” with the low birth weight, low muscle tone and difficulty sucking. The second phase of the disease usually manifests between the ages of two and five. The toddler presents with hyperphagia (an extremely insatiable appetite) delays in motor development, cognitive impairments and behavioral issues in older children and adults. The average IQ of a child with Prader-Willi is 70. The young child typically has a pleasant disposition. As the child matures he or she develops temper tantrums, manipulative behavior, obsessive and compulsive behaviors, difficulty managing changes, and perseverating. At approximately the age of six, the child also develops a compulsion to eat and obsession with food. This urge is overwhelming and difficult to control. People with Prader-Willi have been known to steal food from stores, other people, and even trash cans.
Treatment: While there is presently no cure for Prader-Willi, it can be controlled with strict dietary guidelines and constant supervision. It begins with a well balanced diet with vitamin supplements and regular weight monitoring. Food usually needs to be locked up and the person responsible for supervision must be constantly vigilant. A person with Prader-Willi can be very clever when it comes to taking advantage of an opportunity to get extra food.
Daily structure is another crucial part of managing Prader-Willi. Routine is very important, as are firm rules and positive rewards. Some medications are helpful in controlling the mood swings and symptoms of Obsessive Compulsive Disorder (OCD) that accompany this disease. Adults can do well in group day program settings and supported living environments.
An adult with Prader-Willi can have a very positive quality of life if he or she is provided with the proper nutritional and behavioral support. Adults with Prader-Willi may qualify for services through the Department of Developmental Services (DDS). Although Prader-Willi is a fairly rare syndrome, there is help out there.
Please enjoy this song written by a person with Prader-Willi about what it is like to live with this syndrome: http://MP3 of My Name’s Not Willy!