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Georgia Prader Willi Syndrome Association Helps Individuals with Rare Genetic Disorder

By S. Mathur

Prader-Willi syndrome (PWS) is a rare genetic disease. It is one of the ten most commonly seen in genetic clinics. It occurs equally in both sexes, across all races, has a rate of incidence of one in 15,000 live births, and is the most common genetic cause of obesity.

Debbie Lange of the Georgia Prader Willi Syndrome Association (PWSA/GA) says that "PWS is a rare genetic disorder and is greatly under-diagnosed. In Georgia, we have identified only 160 individuals with the diagnosis. However, statistics tell us that there are probably 600-800 cases in Georgia presently undiagnosed. Part of my inspiration is due to knowing there are many suffering from this condition without knowing we are here to help."

In medical terms, PWS affects growth, metabolism, appetite, behavior, and overall development. Typical symptoms are weaker muscles, short stature, incomplete sexual development, a chronic feeling of hunger, and a low metabolism. It is a lifelong and life-threatening condition. For individuals and families, it is a heavy burden to bear in the course of daily life. PWSA/GA was founded in 1985 to help individuals and families living with PWS and to help them to live as productive citizens. It is the only organization in Georgia offering support to individuals and families affected by PWS.

Lange says that "Individuals with Prader-Willi syndrome should have the opportunity to pursue their hopes and dreams to the full extent of their talents and capabilities." This requires the knowledge and support of the community around them. To this end, PWSA/GA provides a state-wide network of information, advocacy and support services.

The Association tries to fulfill its goals through community outreach and education, including crisis prevention and intervention, mentoring parents, grants to support families and individuals, liaison to state service and consultations with medical and educational institutions as well as the community. It also engages in quality of life advocacy for more educational programs, vocational opportunities, social interactions and residential options for those suffering from PWS.

One of the most successful Association events is the annual family retreat, says Lange: "This gives families and caregivers an opportunity to spend time together, to share resources, challenges and future goals. As an ongoing event, many of our members tell us this is the only opportunity they have to meet other families with the same challenges. The spirit of togetherness is fostered in a fun, social environment."

Lange has powerful personal reasons to continue working with the Association: "As the parent of an individual with Prader-Willi Syndrome, I feel inspired to share all that I have learned about the syndrome over the last 25 years. The challenges of managing the syndrome are very complicated and broad. Knowing "you are not alone" can be a powerful message to a family dealing with the syndrome".

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