Our beautiful daughter, Chelsea, was born September 19, 2013, on her late-grandmother’s birthday. It was a very special day. As the obstetrician was delivering her, he said, “Look at all the blonde hair!” In an instant I knew something was not right, but I had faith that everything would be ok. I delivered Chelsea via c-section and she spent the first three days of her life in the room with mommy and daddy at the hospital. She would hardly wake to feed, and my hopes to breastfeed pretty much evaporated within the first day. Doctors were not overly concerned with her “floppy” state, or that she hadn’t had hardly a drop of milk in twelve hours! I knew in my heart that something was wrong. By day three of poor feedings at the bottle, mommy was discharged from the hospital and Chelsea was moved to the NICU (neonatal intensive care unit). We were told by the geneticist that she suspected Chelsea had Prader-Willi Syndrome, characterized by her fair features, almond-shaped eyes, and hypotonia (severely low muscle tone). We were told she would most likely spend two to three months in the hospital NICU, and that when she did go home, it would be with a feeding tube. We were devastated! Our poor little baby…how could this be? She was quite dehydrated and spent a few days on IV, and with supported oxygen, and a feeding tube, but when she gained back her strength we were able to remove all three! Our little girl was discharged after two weeks, not two months, and went home feeding from a bottle! The geneticist referred to her as an “All-Star” and said she’d never seen such strength in a baby with PWS. That’s not to say Chelsea was toned and alert when she got home. Bottle feedings were hard on mommy and daddy and Chelsea slept so much of the day away. Every day she gets stronger though! She is very busy with physical therapy three times a week, developmental therapy once a week, not to mention the weekly visits to numerous doctors, which include: pediatrician, geneticist, feeding and speech therapist, endocrinologist, pulmonologist, chiropractor…I’m sure I’m forgetting some. Chelsea truly is a loving, angelic child, and my hope for her is that she loves this life and all the wonderful things it has to offer her, despite the struggles that her syndrome will no doubt cause her.
About PWS: Prader-Willi Syndrome (PWS) is a complex, life threatening medical disorder that affects the body’s hormone system; muscle strength; pain, sleep and temperature regulation; cognition and learning; behavior and appetite. For persons with PWS, the brain does not regulate emotions and appetite normally.Behavior problems are common, worsened by an unrelenting, overriding physiological drive to eat. Normal satiety, the feeling of fullness after eating, does not exist. Undiagnosed, unmanaged and without 24/7 supervision, Prader-Willi Syndrome leads to obesity-related illness and premature death. Prader-Willi Syndrome is one of the 10 most common syndromes seen in genetic clinics and the most common genetic cause of obesity. Although research has made great strides to increase our understanding of Prader-Willi Syndrome, there is no treatment to control or even reduce the insatiable appetite, no medication to treat all of the behavior and psychiatric symptoms. There is no cure, but with your help, there is hope!
We ask for your support in raising money for a foundation that supports us in our journey, and in the research efforts to finding a cure! Many thanks for all your support.
– Jennifer Valentine