When the Pittsburgh Pirates hired Clint Hurdle as their new manager not only were they getting a man with more than two decades experience in professional baseball they also picked up the national celebrity spokesperson for the Prader-Willi Syndrome Association (PWSA). Prader-Willi Syndrome is a rare genetic defect that occurs in about one in every 15,000 births. The illness begins with a newborn typically having a low birth weight and hypotonia (weak muscles) that is so severe that the child cannot suck well enough to get nourishment. Most babies must be kept alive with a feeding tube. The syndrome then “flips” between the ages of two to five when the child never feels “full” leading, if unchecked, to morbid obesity. Other symptoms include short stature if not treated with growth hormones, incomplete sexual development and in some cases, behavior and developmental problems.
Hurdle’s 8-year-old daughter, Madison, was born with Prader-Willi Syndrome. He and his wife have been active with the PWSA for years and he says his daughter’s illness played a small roll in his decision to come to Pittsburgh. “I don’t think it is a coincidence that the only in-patient clinic [for PWS] in the world is in the Children’s Institute here in Pittsburgh,” says Hurdle. He says the Institute has a great support group, “we have reached out to many families throughout the years since the birth of Madison and we have been embraced by many families who have children older.” Hurdle and his family currently live in Denver where he used to coach and says Madison gets great care there but they will soon be looking for a new home in Pittsburgh. “You talk about an easy transition, I know a couple of doctors over there.”
Robert Nicholls is a professor and genetic researcher at the Childrens Hospital of Pittsburgh. He has been studying PWS for nearly a quarter of a century. “Were making great strides in understanding the genetic basis, but its very complex. Prader-Willi Syndrome is not due to loss of function of a single gene, which many conditions like cystic fibrosis and others are, but there are new cellular models there are animal models,” says Nicholls. Nicholls says he works closely with many doctors and patients at both his hospital and at the Children’s Institute. He says it does not seem like the syndrome is increasing or decreasing, nor does it seem to discriminate between males and females or among races. He notes that most cases are in developed countries like the US, England and Germany but he notes that in most third-world and developing nations children with PWS never make it out of infancy. Those who make it out of infancy and are being treated can live into their 60’s and beyond. “When diagnosis was late, meaning by the 20’s or 30’s, and individuals had already become severely obese, then it is a life threatening condition,” says Nicholls.