And on top of that—that this disorder would cause him to possibly eat himself to death at an early age?
Ryan couldn’t cry, suck, or barely move when he was born due to his severe hypotonia (low muscle tone). He just looked like a skinny, quiet newborn to me. I had no idea on his first day of life that SO MUCH MORE was going wrong with his brain and body.
Prader-Willi syndrome (pronounced PRAH-der WILL-ee) is a very complex, spectrum genetic disorder that results from an abnormality in chromosome 15. A fluke internal error at the time of Ryan’s conception and POOF!! our lives were forever altered. PWS occurs in about one in 15,000 births, in all races, and in males and females equally.
“PWS affects growth, metabolism, appetite, behavior, and overall development.” (pwcf.org) All of Ryan’s milestones were delayed. He needed a feeding tube his first year of life. He did not stand independently till he was 2 years old, and he didn’t walk till he was three, to name a few. His whole 10+ years have been filled with physical therapists, speech therapists, and occupational therapists. Half his life we have enlisted the help and expertise of behavior therapists. Ryan is in a special day class (SDC) at his elementary school and has always had a 1:1 helper/therapist.
What makes the syndrome “famous” is the relentless, unimaginable food drive (hyperphagia) that kicks in during childhood. It may start at age 2 but for Ryan, it has been a slow burn. For years he has been preoccupied with food and the food schedule, needing constant reassurance that he will get his food and drinks and vitamins. During the winter of 2014, a more severe food drive kicked in. He has taken food out of a dirty pan and the trash can. He negotiates and demands for more food in a way we have not experienced with him, but knew was coming. For many families this feature isolates them from social gatherings, parties, and restaurants. Food is EVERYWHERE. Food is a pastime and activity in the American culture. It’s a part of EVERY holiday.
Children and adults with PWS lack the satiety signal, plus their brain is DRIVEN/FOCUSED/OBSESSED with food. In addition, they need a calorie-restricted diet because of low metabolism. So….you feel hungry all the time but cannot eat a “normal” amount but actually you get LESS than everyone else. How do you like that? Left without constant supervision they become morbidly obese and experience medical complications. Many parents are forced to lock cabinets and refrigerators. We are not there yet, but we recognize that someday it could be very real. The food drive is life-threatening and life-shortening. Kids and adults pass away every year from choking and binging.
There is no cure yet for the hyperphagia, but there is the hope for it someday.
Our whole world has vastly expanded as a result of our journey with Ryan. Kate, my youngest, will grow up to be a better wife. Luke, my oldest, will be a better husband someday. At the same time that we all carry our own sorrow and angst as we deal daily with Ryan’s anxiety and behaviors, we have learned about compassion, sensitivity, and gratitude.
Ryan is my most grateful child, the one who says thank you ALL. THE. TIME. He compliments everyone, even strangers, as they jog by on their morning run. He loves to please and gain your approval. And although his 1000 questions per day drive us crazy-mad, we love him fiercely. We are all his advocates and cheerleaders.