Appetite for life: 4-year-old Fargo girl lives with rare genetic disorder, Prader-Willi syndromeFargo - As Juliana Steffan stuffs a sparkly silver necklace into her backpack, she tells her parents she wants to bring her pink Hello Kitty purse to the first day of preschool. What Juliana can’t tell her parents, or anyone, is when she’s full.
By: Anna G. Larson, INFORUM
Juliana Steffan’s mother, April Steffan, created a YouTube video about Prader-Willi syndrome, a rare genetic disorder that causes a chronic feeling of hunger, among other physical, mental and behavioral challenges.
Fargo - As Juliana Steffan stuffs a sparkly silver necklace into her backpack, she tells her parents she wants to bring her pink Hello Kitty purse to the first day of preschool.
What Juliana can’t tell her parents, or anyone, is when she’s full.
The 4-year-old Fargo girl has a rare genetic disorder that causes a chronic feeling of hunger, among other physical, mental and behavioral challenges. Prader-Willi syndrome is the most common known genetic cause of life-threatening obesity in children, according to the Prader-Willi Syndrome Association.
“The brain doesn’t understand any signals of feeling full,” explains Juliana’s mom, April Steffan.
Juliana, a little girl who loves her baby dolls, has already endured challenges related to PWS, including surgeries for her hip, which formed incorrectly due to inactivity in the womb. Her latest hurdle is the constant hunger, April says.
Until recently, the Steffans thought Juliana had bypassed the onset of chronic hunger. But, the couple started noticing their daughter proclaiming, “I’m more hungry, I’m more hungry” after meals, sometimes falling to the floor in tears as she begged for more food.
Adults with PWS often have to live in group homes where they’re supervised, and food is locked up. If left alone, people with PWS might eat so much that they rupture their stomachs, or worse, April says.
“It’s beyond willpower,” she says.
Imagining that future for Juliana is difficult, but April finds hope in “the new generation of PWS,” which she describes as sufferers who’ve learned to understand the syndrome, manage their symptoms and educate others.
Supplements, vitamins and the human growth hormone, coupled with therapy and special diets, have helped some PWS sufferers control their symptoms.
Juliana currently takes human growth hormone to promote lean muscle development and help her reach her full growth potential. She also takes five to six supplements and vitamins daily.
“It’s fascinating for me to think what could she be like when she’s 20 when I’m seeing some of these people who can speak about it,” April says. “At a minimum, I want her to be able to totally understand it and be empowered to manage it.”
April and Travis help Juliana manage her symptoms with physical activity and healthy snacks so she’s not constantly thinking about food.
“For the most part, if food is out of sight and out of mind, she’ll be OK,” April says.
To control her weight, Juliana’s on a low-carb, high-protein diet. On a typical day, her preschool lunchbox might include hard-boiled eggs with steamed cauliflower or Greek yogurt with blueberries and cucumber slices.
“We say she has a special tummy,” April says.
Juliana likes bringing her own lunch, but April and Travis worry that someday she won’t.
“As she gets older, I don’t know how that’s going to go,” April says. “I don’t know if she’s going to say no way, they all get cupcakes, I want cupcakes.”
Summer picnics, holidays and other events that focus on food can be difficult for Juliana. Once she sees food, she’ll want to “graze all day,” April says.
The Steffans try to educate friends and family so they don’t offer Juliana food, although the 4-year-old does get sweets from time to time. At birthday parties, for example, she might have cake, but the frosting will be scraped off, or she’ll get a smaller piece.
“It’s really overwhelming. It’s hard to constantly police her,” April says.
Besides her insatiability, Juliana has low muscle tone and physical, developmental and cognitive delays, all PWS trademarks.
Trudy Hjelseth and Brittany Anderson at Beyond Boundaries Therapy in Fargo work with Juliana to improve her mobility and skills.
The 4-year-old used to struggle to sit up, and now she runs the halls of the therapy center. Hjelseth, an occupational therapist, remembers getting down on all fours with Juliana to encourage her to crawl toward toys.
“We just have to do whatever we can to motivate her, and it makes us look silly at times,” Hjelseth says.
Beyond physical accomplishments, the two therapists have seen Juliana blossom into an “independent spitfire.”
“You never know what she’s going to say, what she’s going to do,” Anderson says. “When she was really little, we were begging for that personality to come out. Her little personality is strong-willed, stubborn, smart and very social.”
Her mom, April, says Juliana can be social if people are patient with her. Many children have trouble understanding her or waiting for her, April says. Juliana’s brother, Gabe, 7, and sister, Miri, 2, are her closest friends. At preschool, Juliana tends to connect with other children who have challenges.
“She’s probably the most loving person I know. She loves anybody without judging them,” April says. “That’s refreshing because so often you go into a new encounter with hesitation or doubt, and she’s just like ‘Hi!’ ”
Juliana has one more year of special education preschool through Fargo Public Schools, and April and Travis are hopeful she can go through the mainstream school system. They’ve talked about the possibility that they could have Juliana living with them their whole lives, but they hope she can live independently someday.
Advancements in medicine and research keep the Steffans positive about Juliana’s future and the future of all children with PWS.
“Think of how much could change in 20 years. We definitely have hope that there will be something,” April says. “My hope would be for her to have some control and enough independence to pursue something to find joy. We will do everything we can to give her a better shot, a better chance.”
Readers can reach Forum reporter Anna G. Larson at (701) 241-5525
If you go
What: One Small Step for Prader-Willi syndrome, a 2-mile fun walk
When: 9 a.m. Saturday; the walk starts at 10 a.m., rain or shine
Where: Lindenwood Park (Rotary shelter)
Info: To donate or register, visit www.tinyurl.com/jsteffan. All proceeds will support the PWS Research Plan.