(BPT) - For Kevin and Karin Sweeney, the distress was immediate. Moments after the birth of their daughter, Klara, doctors and nurses gathered in the delivery room in a quiet cluster. Their whispers were a vivid and unnerving sign that something was troubling them about the baby. Karin sensed it, too. Klara wasn't crying and would not latch on to nurse. She needed a feeding tube and further evaluation in the neonatal intensive care unit.
Soon after, genetic testing revealed that she had Prader-Willi syndrome (PWS), a rare disorder characterized by chronic hunger, growth hormone deficiency, and behavior changes.
Many questions, few answers
The diagnosis left the Sweeneys full of questions they couldn't easily articulate. As parents of a newborn, their future felt uncertain.
"We felt isolated and alone," says Karin. "But we refused to accept a future that was grim for our daughter. We focused on learning all we could about PWS to help us adapt to the new reality we were facing."
"The hungriest you've ever been"
That new reality included dealing with one of the most challenging symptoms of PWS, called hyperphagia, or unsatisfiable hunger. If not proactively managed, hyperphagia-associated PWS can result in life-threatening obesity and lead to other health complications.
"People with Prader-Willi syndrome do not feel full. They usually cannot live independently because they are consumed with their overwhelming need for food," says Jennifer L. Miller, M.D., professor of pediatric endocrinology at the University of Florida, Gainesville, who specializes in treating children and adults with PWS. "When I first started treating this disorder, a patient told me, 'Imagine the hungriest you've ever been. That's how I feel all the time.'"
A new version of life – in and out of the home
Families navigate the burden of PWS in different ways, often building their days around structure, including consistent mealtimes and controlled food access. For the Sweeneys, this has meant increased vigilance in controlling what and when their daughter eats. Inside their home, they have been able to keep Klara, now 15 years old, on a strict "clean" diet to help her maintain a healthy weight.
Other families coping with PWS often turn to more extreme measures to control their child's food access, including locking fridges and pantries.
Outside the home, PWS can have a significant impact on quality of life. With less control over food access at parties and other social gatherings, families often are forced to isolate themselves from friends and loved ones.
"Hyperphagia is complex and challenging. If it were simple, we would have had an answer long ago," says Dr. Miller. "Clinical research and education play a critically important role in giving hope to patients and families that we can find answers to help them thrive and have a better quality of life."
The HERO study
One clinical research study being led by investigators such as Dr. Miller is exploring a potential treatment option for PWS. The clinical trial, called the Hunger Elimination or Reduction Objective (HERO) study, is focused on assessing the effectiveness and safety of an investigational drug for the treatment of hyperphagia in PWS. The therapy is being studied to see if it can help the body release certain gut hormones that may help reduce excessive hunger and food-seeking behaviors in people with PWS.
The study is open to males and females 7 years of age or older in the United States who have a documented diagnosis of PWS. Eligible participants will receive the study drug or a placebo orally twice daily for 12 weeks. Travel expenses and lodging, if required, for the participant and a primary caregiver will be covered. To learn more, visit www.heroforpws.com.
