Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

Authors

Sara D. Khangura, University of Ottawa
Kylie Tingley, University of Ottawa
Pranesh Chakraborty, Newborn Screening Ontario
Doug Coyle, University of Ottawa
Jonathan B. Kronick, Hospital for Sick Children University of Toronto
Anne Marie Laberge, CHU Sainte-Justine - Le Centre Hospitalier Universitaire Mère-Enfant
Julian Little, University of Ottawa
Fiona A. Miller, Institute of Health Policy, Management and Evaluation
John J. Mitchell, Centre Universitaire de Santé McGill, Hôpital de Montreal Pour Enfants
Chitra Prasad, Western UniversityFollow
Shabnaz Siddiq, University of Ottawa
Komudi Siriwardena, University of Alberta Hospital
Rebecca Sparkes, Alberta Children's Hospital
Kathy N. Speechley, Western UniversityFollow
Sylvia Stockler, The University of British Columbia
Yannis Trakadis, Centre Universitaire de Santé McGill, Hôpital de Montreal Pour Enfants
Brenda J. Wilson, University of Ottawa
Kumanan Wilson, Ottawa Hospital Research Institute
Beth K. Potter, University of Ottawa

Document Type

Article

Publication Date

1-1-2016

Journal

Journal of Inherited Metabolic Disease

Volume

39

Issue

1

First Page

139

Last Page

147

URL with Digital Object Identifier

10.1007/s10545-015-9881-1

Abstract

Background: Patient-centered health care for children with inborn errors of metabolism (IEM) and their families is important and requires an understanding of patient experiences, needs, and priorities. IEM-specific patient groups have emerged as important voices within these rare disease communities and are uniquely positioned to contribute to this understanding. We conducted qualitative interviews with IEM patient group representatives to increase understanding of patient and family experiences, needs, and priorities and inform patient-centered research and care. Methods: We developed a sampling frame of patient groups representing IEM disease communities from Canada, the United States, and United Kingdom. With consent, we interviewed participants to explore their views on experiences, needs, and outcomes that are most important to children with IEM and their families. We analyzed the data using a qualitative descriptive approach to identify key themes and sub-themes. Results: We interviewed 18 organizational representatives between February 28 and September 17, 2014, representing 16 IEMs and/or disease categories. Twelve participants voluntarily self-identified as parents and/or were themselves patients. Three key themes emerged from the coded data: managing the uncertainty associated with raising and caring for a child with a rare disease; challenges associated with the affected child’s life transitions, and; the collective struggle for improved outcomes and interventions that rare disease communities navigate. Conclusion: Health care providers can support children with IEM and their families by acknowledging and reducing uncertainty, supporting families through children’s life transitions, and contributing to rare disease communities’ progress toward improved interventions, experiences, and outcomes.