Nolan was diagnosed with PWS clinically at five days old, and his diagnosis was confirmed by FISH and methylation blood testing at age 10 days. He spent his first three weeks of life in the NICU (Neonatal Intensive Care Unit) of St. Francis Hospital in Hartford, Connecticut. He was unable to breastfeed, moved very little, hardly cried at all, and mostly slept. During that time, I only saw him with his eyes open twice. He required oxygen and tube feedings, and had difficulty regulating his temperature.
When we received his diagnosis, it was in one way a relief to know what was wrong, but mostly it was a devastating shock, since PWS is almost always a random event that occurs at or just after conception and except in very rare cases, it does not run in families. Its cause is unknown. It can not be prevented and is not something normally tested for during pregnancy, so we had no way to prepare for the difficult road ahead. I don't know what I would have done without the loving support of my midwives, and Nolan's primary NICU nurse.
We have come a long way since then. We have learned things I never would have imagined, and met so many wonderful people we would not have ever known otherwise. Due to many, many doctor appointments, countless hours of therapy, experimental supplements and treatments, and countless hours of research and networking on the internet with other families and organizations, Nolan has gone from a floppy little baby to a very social and relatively healthy young child who looks forward to starting Early Childhood Special Education Preschool in the Fall.
We do our best to accept the things about PWS that we cannot change, but our greatest goal is to do all we can to help Nolan live to his fullest potential in life. This page is dedicated to all of his hard work and all of our hopes for his future. We also hope that this site will help increase knowledge and understanding of Prader-Willi Syndrome for all who visit.
A considerable amount of information regarding PWS on the web and in the media portrays the grim picture that PWS has presented in the past. Fortunately, with new testing and treatments available, such as the growth hormone injections we give him daily; with the benefits of Early Intervention programs and early parental education, and with very stringent dietary restrictions in place, we hope that Nolan's future has a much brighter outlook. Unfortunately, because his condition is rare (approximately 1:15,000), there is not enough funding to conduct all of the research that could be done on PWS.
