Background: Advances in biochemical genetics, newborn screening, and metabolics, have allowed children with inborn errors of metabolism (IEM) to live longer and with fewer severe disease manifestations. However, the experiences of children with these disorders and their families have seldom been studied empirically and remain sparsely reported in published literature. Patient-centered care that can meet the needs of children with IEM and their families is essential, and will require an informed understanding of their experiences and priorities.

IEM-specific patient advocacy and support groups have emerged as important voices in these rare disease communities and are therefore uniquely positioned to contribute to this understanding. On the advice of patient and family members of the Canadian Inherited Metabolic Diseases Research Network’s (CIMDRN’s) External Advisory Board, we conducted a qualitative study to gain insight into the perspectives of IEM-specific patient advocacy and support group representatives. This information will improve understanding of patients’ and families’ experiences, needs and priorities, and inform research that will support patient-centered health care for children with IEM.

Methods: We developed a sampling frame of patient groups using relevant Internet sites, searches, and recommendations from within the team of investigators, and representing IEM disease communities from Canada, the United States and the United Kingdom. With consent, we recruited a sample of participants and gathered qualitative data using recorded, semi-structured telephone interviews to identify key experiences, outcomes, and priorities that are most important to children and adolescents with IEM and their families. A core team of researchers used a qualitative descriptive method to analyze the interview data. We employed an iterative approach to identify concepts and emergent themes. Constant case comparison and discussion among multiple researchers were used as strategies to enhance credibility and rigor, in accordance with recommended methods for qualitative data analysis.

Results: We interviewed eighteen organizational representatives between February 28 and September 17, 2014, representing sixteen unique diseases and/or disease categories. Many participants voluntarily self- identified as parents and/or were themselves patients. Three overarching themes emerged from the coded data: (i) coping with uncertainty, (ii) managing the child’s life transitions and (iii) challenges that rare disease communities face in their struggle toward improved diagnosis and treatment.

Results will be presented narratively and de-identified quotes will illustrate and support the qualitative descriptive findings.

Conclusion: The findings of this study highlight the important experiences, concerns, and priorities of patients with IEM and their families. These data will be used to inform a larger program of research that evaluates IEM interventions, and will ultimately contribute to recommendations for improved patient care.