Abstract:
Background: Rare diseases represent an important public health issue; prevalence is an estimated 30 million patients in the United States. Efforts from advocacy organizations and governmental outreach based on assumptions derived from mainstream diseases fail to address the unique challenges rare diseases present, resulting in alienation, isolation, stigmatization, and poor health outcomes. Methods: Current ehealth practices were compared with needs reported by patients and HSOs with a selected rare disease via 1. content analysis of threads (n=852) from a pre-eminent online advocacy community; 2. content analysis of advocacy, government, and non-scientific resources 3. Cross-sectional surveys (n=57); 4. In-depth interviews (n=28); 5. Focus Group Discussions (n=12). Findings: Analyzed qualitatively and quantitatively using a priori codes to evaluate Weick's model of organizing and Uncertainty Management Theory as well as codes emerging via Grounded Theory, the exemplar rare disease community fails to meet the needs described by patients and HSOs. Interactions were low (mean = 1.81 responses, median and mode = 0) using the mainstream mechanism. Conversely, patients informally organizing reported a reduction in isolation and equivocality and were more equipped with strategies to manage their health. However, they lacked ability to advocate on a large scale and questioned information credibility. Conclusions: Rare disease patients rely on peers for social support and information. Leveraging the resources of well-known advocacy groups with a patient-centered model will enable peer-to-peer support and information sharing, leading toward the understanding of the pathogenesis and side effects associated with rare diseases.
