Prader-Willi Syndrome (PWS) is a complex, rare genetic disorder known for its hallmark features: insatiable hunger, intellectual and behavioral challenges, and a host of physical health concerns. For families and individuals affected by PWS, navigating the daily realities of the syndrome is both an emotional and logistical challenge. To better understand these lived experiences, TREND Community, a digital health platform focused on capturing patient and caregiver voices, has published several comprehensive reports summarizing the insights and stories of its PWS community members.
In this first article of our series, we delve into the key findings of the report, “Community Voice: Prader-Willi Syndrome” published in June 2023. Over the next 5 weeks, we will be bringing the results of TREND’s incredible work with PWS over the last 2 years to further their efforts to support community members, health care providers, researchers, pharmaceutical sponsors, and regulatory agencies and advance their mission to facilitate understanding, strengthen advocacy, and spark scientific progress.
The Power of the Patient Voice
Traditional research often overlooks the nuanced, day-to-day experiences of those living with rare diseases. TREND Community set out to change this by gathering and analyzing the real-world stories, social media conversations, and survey responses from people with PWS and their caregivers. By centering the voices of families, the report brings to light the full spectrum of challenges, needs, and hopes within the PWS community.
Key Findings: What Matters Most to Families?
- Hyperphagia: The Central Challenge
The report confirms that hyperphagia, an intense, persistent hunger not relieved by eating, is the most commonly discussed and distressing symptom for both individuals with PWS and their families. This relentless drive to eat shapes daily routines, influences social interactions, and can lead to significant health risks such as obesity and diabetes.
- Behavioral and Mental Health Struggles
Behavioral issues, including temper outbursts, anxiety, and obsessive-compulsive tendencies, are another major concern. Caregivers frequently discuss the difficulties in managing these behaviors and express a strong need for effective coping strategies and support systems.
- The Burden on Caregivers
The emotional and physical toll on caregivers is profound. Families share stories of exhaustion, social isolation, and the constant vigilance required to keep their loved ones safe and healthy. The need for respite care, mental health resources, and community support is a recurring theme.
- Barriers to Care
Accessing specialized care, especially for adults with PWS, remains a significant hurdle. Many families report long wait times to see specialists, a lack of knowledgeable providers, and challenges transitioning from pediatric to adult care. These barriers often lead to gaps in treatment or support.
- Hope for New Treatments
Despite the many challenges, the PWS community expresses hope. Advances in research, particularly around medications that may help control hyperphagia and behaviors, are closely watched and discussed. Families are eager for clinical trials and new therapies that could improve quality of life.
Why These Findings Matter
The TREND Community’s approach underscores the importance of listening to those with lived experience. By systematically capturing and analyzing their voices, researchers, clinicians, and policymakers gain invaluable context for understanding what matters most to the PWS community—and where support and innovation are urgently needed.
In future articles, we’ll take a closer look at specific themes from the report, such as the impact of hyperphagia on daily life, the need for mental health support, and the community’s priorities for research and advocacy.
Stay tuned as we continue to explore the realities, challenges, and hopes of the Prader-Willi Syndrome community—directly from those who know it best.
