title: Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
authors.forename: Sara D
authors.initials: SD
authors.lastname: Khangura
authors.affiliation: Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
authors.forename: Kylie
authors.initials: K
authors.lastname: Tingley
authors.affiliation: Newborn Screening Ontario, Ottawa, ON, Canada.|Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.|Faculty of Medicine, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
authors.affiliation: Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
authors.forename: Doug
authors.initials: D
authors.lastname: Coyle
authors.affiliation: Hospital for Sick Children, Toronto, ON, Canada.|University of Toronto, Toronto, ON, Canada.
authors.forename: Jonathan B
authors.initials: JB
authors.lastname: Kronick
authors.affiliation: CHU Sainte-Justine, Montréal, QC, Canada.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Laberge
authors.affiliation: Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
authors.forename: Julian
authors.initials: J
authors.lastname: Little
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
authors.forename: Fiona A
authors.initials: FA
authors.lastname: Miller
authors.affiliation: Montréal Children's Hospital, Montréal, QC, Canada.
authors.forename: John J
authors.initials: JJ
authors.lastname: Mitchell
authors.affiliation: Western University, London, ON, Canada.
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
authors.affiliation: Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
authors.forename: Shabnaz
authors.initials: S
authors.lastname: Siddiq
authors.affiliation: University of Alberta Hospital, Edmonton, AB, Canada.
authors.forename: Komudi
authors.initials: K
authors.lastname: Siriwardena
authors.affiliation: Alberta Children's Hospital, Calgary, AB, Canada.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Sparkes
authors.affiliation: Western University, London, ON, Canada.
authors.forename: Kathy N
authors.initials: KN
authors.lastname: Speechley
authors.affiliation: University of British Columbia, Vancouver, BC, Canada.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Stockler
authors.affiliation: Montréal Children's Hospital, Montréal, QC, Canada.
authors.forename: Yannis
authors.initials: Y
authors.lastname: Trakadis
authors.affiliation: Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.
authors.forename: Brenda J
authors.initials: BJ
authors.lastname: Wilson
authors.affiliation: Ottawa Hospital Research Institute, Ottawa, ON, Canada.
authors.forename: Kumanan
authors.initials: K
authors.lastname: Wilson
authors.affiliation: Faculty of Medicine, School of Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada. bpotter@uottawa.ca.
authors.forename: Beth K
authors.initials: BK
authors.lastname: Potter
mesh_terms: D002170:Canada; D002648:Child; D002675:Child, Preschool; D005190:Family / Q000523:psychology*; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000523:psychology*; D010290:Parents / Q000523:psychology; D018802:Patient-Centered Care; D036301:Qualitative Research; D006113:United Kingdom; D014481:United States