Maria Picone, co-founder and CEO of the TREND Community, and mother of a 14-year-old with Prader-Willi syndrome (PWS), discusses her family’s journey with PWS, including why more research and better data are so important.
Understanding Prader-Willi Syndrome
PWS is a complex genetic condition affecting about 1 in 10,000 to 1 in 30,000 people in the U.S. It affects many parts of the body, including the hypothalamus. The key symptom PWS is known for is hyperphagia. However, that symptom does not usually occur until later in childhood. Babies with PWS are often born with low muscle tone, sleepiness, and delayed developmental milestones. Infants often experience feeding difficulties early on, but as they grow, most children develop hyperphagia as well as several psychological and behavioral conditions that can mimic autism and/or obsessive-compulsive disorder.
Living with Prader-Willi Syndrome
Ms. Picone explained that her daughter was born with low muscle tone and diagnosed with PWS at just 10 days old. At Pennsylvania Hospital, babies who were “born floppy” were tested for PWS, which was very helpful.
She shared that adjusting to her daughter’s diagnosis took time and involved a learning curve. Infants with PWS may be very sleepy and need help with feeding because of low muscle tone. As a result, doctors often recommend nasogastric tubes to support nutrition and weight gain.
Ms. Picone noted that although every child with PWS is different, the most challenging symptom for her family has been managing her daughter’s hyperphagia, which became more pronounced after she turned 12 years of age. Ms. Picone told a story about her daughter raiding a friend’s refrigerator where they were staying. Her daughter then struggled to focus at school the next day because she was hungry and ended up taking food from other children’s backpacks.
Ms. Picone said these behaviors have required the family to adapt. For example, they’ve installed locks on kitchen cabinets and cameras in the kitchen. She said her daughter’s cravings tend to come and go during episodes, so the family adjusts protocols depending on how she’s doing, with the goal of balancing safety and independence.
Current Treatments and the Need for More Effective Approaches
Ms. Picone shared that growth hormone therapy is an important early treatment for children with PWS because it supports physical growth and development. Research shows that kids who start hormone therapy early may also have higher intelligence quotients (IQ).
Since food anxiety is one of her daughter’s most notable symptoms, Ms. Picone tries to keep her daughter informed about meals throughout the day. If the family is going to be traveling, she also packs meals and snacks in advance, so her daughter doesn’t have to worry about going hungry.
Ms. Picone said that although her daughter is receiving treatment to manage hyperphagia, more options are needed. She shared a story about her daughter wondering if treatment was actually working, because she couldn’t really tell. Ms. Picone hopes there will eventually be a treatment that lets her daughter focus on other aspects of life instead of only her next meal.
The Importance of Patient Experiences and Better Data
Ms. Picone and her co-founder, Christopher DeFelice, created the TREND Community because they wanted to support other parents dealing with rare disease diagnoses. The TREND Community is a digital health analytics company that turns online conversations from rare and emerging-disease communities into actionable insights. More specifically, the organization uses these insights to help researchers better understand rare diseases and identify areas that deserve further investigation.
In Their Own Words
“You know, without data, you won’t get a diagnosis, you won’t get treatment, and you can’t do drug development,” Ms. Picone said. “So, that’s why the data is so important, because it kind of enables everything else to happen.”
To learn more about the TREND Community and the work it’s doing, visit: https://trend.community/
To learn more about PWS and other rare congenital and genetic conditions, visit: https://checkrare.com/diseases/congenital-and-genetic-conditions/