What’s a mother to do when she is told that her precious newborn son has been diagnosed with a rare genetic disorder that no one has ever heard of? NO. ONE.
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.
May 2020 Update on Ryan
Today, Ryan is almost 17 years old. SEVENTEEN. How is that even possible?
He is finishing his sophomore year at a public high school. He is in the Skills to Independence class. He has a full time behavior therapist with him all day to assist with schooling, behaviors, focus and anxiety. He still receives speech and occupational therapy at school a few times a week. At the time of this update, we are in the midst of the COVID-19 quarantine, so he is engaging as best as possible in distance learning. We are 8 weeks in and his anxiety level has been surprisingly lower than I anticipated for this massive disruption to his life.
Ryan LOVES to listen to music or books, watch sports, especially Women’s Volleyball, (college and beach), Pac-12 Football, and basketball. He will shoot hoops all day and loves going on long family walks and hikes. He still really wants to please all the adults in his life, whether his parents or his school team or babysitters. He loves the praise he receives from Luke and Kate, too.
Ryan had spinal fusion surgery December 2019 and was such a champ of a patient, with a good attitude, and completely compliant, in and out of the hospital. We attribute his success to a great doctor and CHLA team, lots of prayers, and Ryan’s high pain threshold. He is so tall and so straight; it is just beautiful to no longer see his curve.
We started locking our kitchen when Ryan was 13 years old. The food drive or hyperphagia in PWS has been a slow build up over time for him. And thankfully he does not display the food drive at school, which means no digging in trash cans, negotiating with classmates or taking food from the class kitchen. I don’t honestly know why this is the case, and I tell his team at school it could change any day.
The sweetheart that he has always been remains a true part of Ryan. He is caring and concerned about others, often reminds me to pray for anyone and everyone and is so grateful for the smallest things I do for him. Ryan has made me who I am today and for that I will be eternally grateful.