Nine years ago, my family was blessed with the birth of my nephew Rocco. We were excited to have the first grandchild in the family and couldn't wait for him to be born. At his birth, he was having difficulty breathing and wasn't able to nurse. The doctors weren't sure what was wrong with Rocco, so he was sent to the CHOP (Children's Hospital of Philadelphia), where they conducted numerous tests to see if they could find the cause of what was causing these problems. After a long line of tests were completed, the doctors set up a meeting with our family. They told us that Rocco had Prader-Willi Syndrome. Nobody in my family had ever heard of this illness and to us, it was as if the doctor was speaking a foreign language. My family wanted to know Prader-Willi Syndrome is, how was it diagnosed, and what we could do as a family to help Rocco as he lived with this syndrome. And most of all, we wanted to know if Rocco would have an independent and full life. .
Prader-Willi Syndrome (PWS) is a complex neuro-developmental genetic condition that was first noted in medical literature when three endocrinologists (Prader, Labhart, and Willi) published a report in 1956 describing an unusual pattern of abnormalities in infants. The study noted abnormalities such as diminished fetal activity, poor muscle tone, feeding problems, sex organs that are underdeveloped, short stature, retarded bone age, small hands and feet, delayed developmental milestones, characteristic faces, cognitive impairment, obesity due to insatiable hunger, and a tendency to develop diabetes in adolescence and adulthood if weight is not controlled. .
During follow up studies throughout the 1960's, other abnormalities were found that could assist in a differential diagnosis of PWS. These abnormalities included orthopedic, dental, and developmental characteristics, and as a result of these studies, two phases were identified.
