Presentation (CTI)

OBJECTIVES: While there is generally a focus on the physical symptoms of rare diseases, the mental health impact remains underexplored. To our knowledge, this is the first study aimed at uncovering the psychological burdens of patients and caregivers using social listening across five rare diseases: mucopolysaccharidoses, spinal muscular atrophy, multiple system atrophy, phenylketonuria, and Cushing’s syndrome. These diseases reflect diverse symptoms, life stages, treatment experiences, and prognoses.
METHODS: A retrospective social listening study using RarePulse® was conducted using Boolean logic-based queries across 100 million publicly available online sources from 01/02/2024- 01/02/2025. Relevant mentions within disease areas were selected and analysed using natural language processing and categorised into burden domains: emotional and psychological, physical, uncertainty, diagnostic, and relational. Mentions related to the emotional and psychological burden were thematically analysed to identify key emotional stressors.
RESULTS: A total of 54,241 online mentions from 29,740 unique authors were identified. After filtering for personal experiences, 3,999 posts relating to disease burden were selected for analysis. Of the mentions with identifiable sentiment, 80% were negative. Psychological and emotional burdens were the most frequently discussed burdens by caregivers and patients, accounting for 64% of mentions, surpassing references to physical symptoms (16%). These burdens were commonly driven by grief, anxiety, caregiver exhaustion, suicidal ideation, and isolation, often underpinned by feelings of worthlessness, loss of independence, and disease progression.
CONCLUSIONS: Across the five studied diseases, online mentions from patients and caregivers suggest that the psychological burden of rare disease is the most prominent. Our results highlight the heavy mental health burden faced by individuals with rare diseases, underscoring the urgent need for focused support and resources. Addressing the mental health impact of rare diseases requires holistic care, where psychological support is integrated into rare disease management.