After receiving an unexpected diagnosis for her 4-year-old daughter Haley, Diane Kavrell felt alone and unsure of what to do next, just like many parents who learn that their child has a rare disorder.
Haley was born with Prader-Willi syndrome, a genetic condition that affects one in 15,000 babies. Because of her condition, for the rest of her life, Haley will feel constant hunger no matter how much she eats or what medication she takes. Among other precautions, kitchen cabinets and refrigerators in her house will need to be locked at all times to stop her from dangerously overeating. She’ll never be able to live independently.
Just 7,206 people are known to have the disorder in the United States, meaning only a few dozen people at best in Northern California know firsthand what Kavrell is going through. Those numbers, however, didn’t stop Kavrell from seeking out other parents caring for children with the disorder who could provide guidance, or just some solidarity.
The Davis resident joined the board of directors for the Prader-Willi California Foundation and is using her experience with the syndrome to help four other Sacramento-area households do what’s best for their children.
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Finding each other means sharing information about how to keep kids on a strict eating schedule, with calories carefully counted. It also helps with referrals to doctors who know how to treat Prader-Willi as well as with countless practical tips about how to avoid the dangers children with the syndrome fall into.
“No one gives you a parenting book that tells you do this, this and this,” Kavrell said. “It’s the same thing with special needs: No one gives you a book that tells you how to be a special-needs parent.”
It’s a challenge that many families face after unexpected diagnoses. UC Davis Children’s Hospital offers support groups for families dealing with unusual disorders and diseases such as cleft lip and juvenile Huntington’s disease, as well as more widespread illnesses such as leukemia.
Davis resident Emily Felt said her family recently moved back to the United States from Spain because of her husband’s job and to let her 4-year-old daughter, Olivia, participate in an innovative Prader-Willi study at the University of Florida.
Felt has worked remotely with nearly 100 families while living in Spain, which she said helped her feel less isolated.
“It’s a great resource because there’s a big difference between little kids and older kids because the disease moves in phases,” Felt said. “You’re so scared of what’s going to happen later, so it’s great to have that support.”
Kavrell learned the value of such company after attending a Prader-Willi support group in San Francisco for six years after her daughter was diagnosed. That inspired her to create a similar group closer to home, but few parents got in touch with her even after the Prader-Willi California Foundation designated her as its primary contact in Northern California.
That changed last year, when Kavrell received her first call from a nurse on behalf of a family in rural Yolo County also coping with a Prader-Willi diagnosis. Word of mouth started spreading about the group, and the calls began coming in.
“The drive to eat varies from kid to kid,” Kavrell said. “The call I got the other day was about someone who was eating from the garbage. And they said, ‘Do you have locks for your garbage?’ I had to call the office in L.A. to ask them, and they did say some people have to buy locks.”
“You don’t feel alone and isolated,” she added. “It’s invaluable because you can look and see how other people are managing. Sometimes it’s good and sometimes you just need to cry with someone.”
Folsom resident Amie Adams said meeting Haley at a San Francisco walkathon raising money for Prader-Willi research gave her hope that her own newborn would do all right. Haley’s now a 17-year-old student at Davis Senior High and an amateur equestrian.
“(Haley) kind of gave a more optimistic outlook of what my daughter’s future might look like,” Adams said. “She’s a beautiful young woman. She’s smart, she’s articulate, she’s in good shape, she’s just the polar opposite of everything you read that your kid’s going to be obese, and overweight, and maybe suffer from autism.”
Experts say insatiable appetite in Prader-Willi patients can lead to morbid obesity and premature death from overeating as well as behavioral problems similar to but often more severe than those seen on the autism spectrum. It’s also characterized by weak muscle tone, feeding difficulties, poor growth and delayed development in infancy. As people grow up, they typically suffer mild to moderate intellectual impairment and learning disabilities.
The state Prader-Willi foundation believes that many more children and families are affected by the syndrome than those diagnosed so far. According to the foundation’s website, 65 percent of cases are not known to the national Prader-Willi Syndrome Association.
Kavrell said she hopes that by continuing to spread awareness, those children will come forward and be correctly diagnosed. She and the other families will be there to help.
“It’s a really good feeling to know that I can help somebody,” Kavrell said. “It’s crazy to see how much time has passed. It feels like just yesterday I was in the same boat as they were.”