One Small Step Toward a Full Life: The Challenges of Prader-Willi

By Meg Daradanova

On a sunny Sunday morning, Estero Community Park is teeming with activity. A couple hundred people have shown up for the inaugural One Small Step Walk to benefit the Foundation for Prader-Willi Research. Volunteers are handling sign-up, silent auction tables, entertainment and refreshments. Amanda Tokarski, a resident of Estero and the event’s organizer, makes sure everything is running smoothly. Simultaneously, she is keeping a close eye on her daughter, Claire Canfield, as the seven year old flits from face painting to the bouncy castle, to rolling on the grass with a playful dog.

Meanwhile, Isabella Bocanegra, a vivacious 16 year old, is hoola-hooping along with a group of Minnesota Twins players who have come to support the walk. Her smile is contagious, infecting the countenances of the baseball players as they mirror Isabella’s enthusiasm. Her parents, Ricardo and Claribel Bocanegra, are greeting friends, but are also watchful.

“Right now she’s very hungry,” says her mother. And for a child with Prader-Willi Syndrome (PWS), that takes on a level of seriousness far beyond the typical growth-spurt hunger experienced by other children. Prader-Willi brings a wide range of symptoms, but the most prominent is a constant hunger known as “hyperphagia.” Affected people will seek food, eat compulsively, and never feel full.

PWS is a rare genetic condition affecting about one in 15,000 people. Affected families tell their stories in identical medical terms: their babies were born floppy, with no suckling reflex, and had to be force fed. They exhibited “failure to thrive,” and it took a while to know why. For Isabella, as well as for Preston Joyce, a 17 year old affected by PWS, the diagnosis came at six months old.

“They told us she would never be able to walk, or go to school,” recalls Isabella’s mom.

Amanda Tokarski with daughter Claire

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In addition to hyperphagia, the PWS-affected deal with a host of physical, cognitive and behavioral issues like low muscle tone, obesity, scoliosis, OCD and anxiety, irregular growth, and other metabolic disorders. The syndrome affects the function of the hypothalamus: a part of the brain regulating food intake, appetite and body temperature. Claire needed close supervision at the Feb. 17 event because, with her body unable to regulate its own temperature, she could easily overheat on a warm day.

Diagnosis before three months of age is essential for curbing some of the physical effects of PWS through growth hormone. John Walter, CEO of the Foundation for Prader-Willi Research, says that while the main goal of the organization is fundraising, it also strives to provide parents and doctors with information about the little-known condition. Life expectancy of patients is normal, but PWS patients cannot live independently, even as adults.

“The burden on the caregiver is greater than in Alzheimer patients,” says Walter. The strong urge to eat can lead to morbid obesity or become deadly, necessitating caretakers to lock up food and constantly observe their charges.

Claire was diagnosed early and has had speech, occupational, behavioral and developmental therapy since birth.

“Her milestones came much later than most kids,” says her mom. “She didn’t walk until she was 22 months old. But we put so much work into those firsts, that the celebrations seem much bigger.”

Today, Claire’s muscle tone is close to normal; she can ride a bike and loves horse riding. In her first grade class at Three Oaks Elementary, she reads at grade level. In speech therapy, she has recently learned to pronounce correctly the word “ketchup.” This may seem like a small victory, but to Claire it is a source of great pride.

Being a regular seven year old, she loves dogs, unicorns and Disney princesses. She is strong-willed and can throw a good tantrum, but is also sweet, caring and outgoing. She greets everyone at the grocery store and around her neighborhood of Bella Terra.

In addition to maintaining a diet regulating Claire’s blood sugar, her mother locks the refrigerator, pantry and medicine cabinet to keep her safe. Going on vacation, or even out to eat, is a challenge. Tokarski looks up restaurant menus in advance. Claire has to know where she is eating ahead of time, because sudden changes in plans and schedules are her biggest behavioral challenge.

“If she knows she’s having chicken for dinner, but I change my mind and make steak, there will be a meltdown,” says Tokarski. “Her thinking is rigid, and once she’s set on something, it’s hard to change it.”

Claire’s first grade teacher, Beverly Davis, says that going through problems slowly helps Claire deal with her anxiety of the unexpected. Her former kindergarten teacher, Carla Hammen, adds that offering two choices is a good strategy. All of it requires extra time and effort.

“Everyone at Three Oaks Elementary has been very gracious in working with us to establish a safe environment for Claire, and it is as close to perfect as it can get,” says a grateful Tokarski.

PWS takes not only a psychological, but also a financial toll on a family. Babies start their lives with genetic testing, tube feeding and often stays in the NICU.      

A 2016 study found that insured PWS children at median age of 10 pay about nine times more in medical costs per year than non-sufferers of the same age. A child with PWS needs a team of specialists.

“It is almost impossible for both parents to work because Prader-Willi children need constant supervision,” adds Tokarski.

What does the future hold for Claire, Isabella and Preston? There are various lines of research supported by the Foundation. Genetic research would be most likely to find a cure, Walter notes. Until then, clinical research focuses on alleviating the symptoms and effects of PWS: drugs and therapies for obesity, mental health, intellectual and learning disabilities, sleep, behavior and other challenges, as well as help in reducing caregiver stress.           

Meanwhile, as Claribel Bocanegra notes, events like the One Small Step Walk help create a caring and aware community for PWS children and their families. Tokarski hopes to make it an annual event, building upon the success of the inaugural walk in Estero.

As for the kids, they have their own plans and hopes. Preston is graduating high school next year and will join his dad, Mike Joyce, in his disaster cleanup business. Isabella still has a couple of years of school to look forward to. And Claire enjoys everyday triumphs, like saying “ketchup” and conquering math. She also wants to be accepted and fit in with her peers.

Claire’s teachers say she is an exceptionally loving, caring and empathetic child, as well as a good learner. Mrs. Hammen adds that these are the qualities which define who Claire is, not her condition. Tokarski agrees, and hopes to see her daughter lead a full, independent life.

May is PWS Awareness Month, and donations are still being accepted for the Estero walk, benefitting the Foundation for Prader-Willi Research. To support Claire, Isabella, Preston and thousands more affected by PWS, visit fpwr.org.