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Research on individual rare diseases presents challenges such as small sample sizes and limited funding sources, while research efforts spanning across rare diseases present difficulty in applying outcome measures to conditions with variable manifestations. Common experiences in rare disease (extended diagnostic odyssey, chronic conditions, need for advocacy, and challenges finding and managing multi-specialty care) create shared ethical, legal, and social issues (ELSI). Shared in Rare is a stakeholder engagement project to leverage the shared experiences of patients and families impacted by rare disease to develop an ELSI research agenda that is both applicable across rare diseases and guided by patient and family priorities.
A stakeholder group, Rare Voices (RV), is collaborating with ELSI and community engaged researchers to complete the project. RV includes 4 teens and 12 parents of children impacted by rare disease and 6 clinicians/researchers. This project team is working together to conduct listening sessions with diverse parents, caregivers, and teens in the rare disease community that will inform development of the ELSI research agenda.
Early engagement with RV members revealed anticipated challenges including identifying research topics across all rare diseases, communication across diverse stakeholders, moving from qualitative listening session data to research questions, and addressing stakeholder feelings about traumatic experiences surfaced by the project work. This input informed modifications to the project plan including participatory RV training in qualitative research utilizing interviews with RV parent members and collaborative development of research questions emerging from those interviews. Frequent small group work has been incorporated to facilitate communication and engagement. A trauma workgroup was formed and completed training to integrate trauma sensitive practices into all project activities.
This incorporation of stakeholder input has built a highly collaborative and engaged project team working equitably to reach the project aims. 17/22 (77%) of RV members are directly involved in the listening sessions as part of teams developing recruitment materials, drafting the discussion guide, and moderating listening sessions. The team’s actions to address anticipated challenges inform future stakeholder engagement and the collaboration in every aspect of this project poised the listening sessions to capture the voice of the rare disease community, facilitating identification of research needs that will inform a patient and family-centered ELSI research agenda to improve care for rare diseases.
Berrios, Courtney D.; Garrett, Jeremy R.; Jones, Linda; Petersen, Nancy; Strenk, Meghan; and Rare Voices Advisory Group, "Shared in Rare: Engaging Stakeholders to Develop a Shared ELSI Research Agenda Across Rare Diseases" (2023). Research at Children's Mercy Month 2023. 4.