Experts say that with early diagnosis and careful calorie restriction, people with this genetic disorder can maintain a healthy weight.
Anna Hankins isn’t letting her genetic condition stop her from living life: The 15-year-old with Prader-Willi syndrome was recently crowned Mississippi Miss Amazing, and now her inspiring story is going viral.
Prader-Willi syndrome is a genetic condition that causes constant hunger and chronic overeating. According to British news service SWNS, Hankins’ insatiable appetite started around age 2, and she now weighs 380 pounds.
"When she was little, the first words out of her mouth were ‘I’m hungry’ and the last ones were 'I'm hungry,'" Hankins’ mother told SWNS. Hankins’ family used to find empty food and candy wrappers in her room and resorted to locking the refrigerator. "We just didn’t know how to stop it,” her mother added. “She got bigger and bigger and bigger."
After Hankins was crowned a pageant queen for the Mississippi chapter of Miss Amazing—an organization that recognizes girls with disabilities—her story was picked up by news outlets around the world.
To learn more about this condition, Health spoke with Jessica Duis, MD, assistant professor of pediatrics and director of the Prader-Willi Syndrome Clinic at Vanderbilt University’s Monroe Children’s Hospital. Dr. Duis has not treated Hankins, but here’s what she wants people to know about children—and adults—with this condition.
For starters, Prader-Willi syndrome is rare: It affects about one in every 15,000 babies born in the United States. It’s caused by a genetic defect that usually happens around the time of conception–and not by anything that either parent has control over.
According to SWNS, Hankins’ parents didn’t know how to treat her condition when she was young, and they allowed her to overeat. When she was 14, a Prader-Willi specialist put her on a 900-calorie-a-day diet that includes vegetables, meat, rice, fruit, and vitamin supplements.
Despite those restrictions, Hankins still hasn’t lost weight. That’s a common problem for people with Prader-Willi syndrome, says Dr. Duis, as their metabolisms are slower than people without the condition.
People with Prader-Willi syndrome often live with health complications due to their weight. Hankins, for example, is so obese that she cannot dress herself, and she requires supplemental oxygen to help her breathe. “It can be difficult to deal with sometimes,” she told SWNS.
Some signs of Prader-Willi syndrome can be present even at birth. Babies with this condition sometimes have poor muscle tone. “We describe them as kind of 'floppy' as infants,” says Dr. Duis.
Babies with Prader-Willi syndrome can also have distinct facial features—like almond-shaped eyes, a turned-down mouth, and a thin upper lip. It’s also common for them to have a poor sucking reflex, and they may seem tired, weak, unresponsive, and uninterested in eating too.
Toddlers with Prader-Willi syndrome may start walking or speaking later than other children. Eventually, their appetite increases, and usually by 8 years old, they begin showing signs of unrelenting hunger. “They have a genetic drive to eat, and they have no ability to feel full,” says Dr. Duis.
These children may develop strange behaviors around food, like hoarding or even eating garbage. “Parents sometimes think it’s a moral issue, because they catch their kids stealing food,” says Dr. Duis. They can also develop other obsessive-compulsive or repetitive behaviors, along with anxiety.
Hypogonadism, a condition in which the body produces little or no sex hormones, is also common in people with Prader-Willi syndrome. This means they can have underdeveloped sex organs and delayed puberty, and they can almost never have children of their own. Intellectual and learning disabilities are also common among people with Prader-Willi syndrome.
While there’s no cure for Prader-Willi syndrome, treating patients with growth hormones has been shown to improve the balance of fat and muscle in their bodies, as well as their verbal IQs. It also helps them grow taller, since many people with Prader-Willi syndrome are deficient in these hormones and, without intervention, end up with short stature.
Putting patients on a modified Atkins diet also helps prevent or reduce obesity, says Dr. Duis. “If you put kids on a very low-carbohydrate diet, where they’re just getting nutritious carbs like vegetables and whole grains, it actually modifies the natural history of the disease,” she says. “Now we start children on that diet very early on, and we can keep them from gaining weight. Even for adults with Prader-Willi, it can help with weight loss.”
Caregivers still have to count calories and pay close attention to food intake, though: “We recommend as soon as kids are in those early childhood years you introduce the concept of locking up the refrigerator and restricting access to food,” she says. “When we talk to teenagers who have grown up in that environment, it actually helps with their level of anxiety because they know they’re protected.”
There seems to be an increased risk of sudden death among infants and children with Prader-Willi syndrome, says Dr. Duis, although experts aren’t sure exactly why. But, she adds, if the condition is diagnosed and treated early, people with Prader-Willi syndrome can maintain a normal weight and have a normal life expectancy. They can also live very fulfilled lives, finishing school, holding jobs, and moving away from home as adults.
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There are other reasons for Prader-Willi patients and their family members to be hopeful as well, says Dr. Duis. “We’re a lot smarter than we were 20 years ago,” she says. "Plus, there are just so many clinical trials coming, and there’s a lot of interest from pharmacological companies.” she says.
Studies are currently looking at the role the hormones ghrelin and oxytocin play in Prader-Willi syndrome and whether changing those hormone levels can reduce symptoms like hunger and anxiety. “There’s so much coming down the pipeline," Dr. Duis says. "I think that—especially for younger kids—growing up with Prader-Willi syndrome will be completely different than it was for people who are adults now.”