title: Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
abstract: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interactions with the health care system.
  
  
  
  From four Canadian centres, we conducted semi-structured telephone interviews with parents/caregivers of children with an IMD who were born between 2006 and 2015 and who were participating in a larger cohort study. Participants were selected with the aim of achieving a diverse sample with respect to treatment centre, IMD, and age of the child. Interviews emphasized the impacts of the disease and its treatment on the child and family and explicitly queried perceptions of interactions with the health care system. We identified emergent themes from the interview data.
  
  
  
  We completed interviews with 21 parents/caregivers. The 21 children were aged <1 to 7 years old with IMD that included amino acid disorders, urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders or 'other' IMD. Most parents reported that they and their families had adapted well to their child's diagnosis. Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. An important source of stress was concern about the social challenges faced by their children. Participants reported positive interactions with their most involved health care providers within the metabolic clinic. However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child's disease.
  
  
  
  The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study. Parents' social concerns for their children were important stressors that warrant consideration by health care providers positioned to support families. Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD.
authors.affiliation: Faculty of Medicine, School of Epidemiology, 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: Faculty of Medicine, School of Epidemiology, 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: Faculty of Medicine, School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.|Ottawa Hospital Research Institute, Ottawa, ON, Canada.
authors.forename: Ian D
authors.initials: ID
authors.lastname: Graham
authors.affiliation: Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON, Canada.
authors.forename: Monica
authors.initials: M
authors.lastname: Lamoureux
authors.affiliation: Faculty of Medicine, School of Epidemiology, 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 Epidemiology, 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, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON, Canada.
authors.forename: Laure
authors.initials: L
authors.lastname: Tessier
authors.affiliation: Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON, Canada.
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
authors.affiliation: Faculty of Medicine, School of Epidemiology, 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: Department of Pediatrics, Dalhousie University and IWK Health Centre, Halifax, NS, Canada.
authors.forename: Sarah
authors.initials: S
authors.lastname: Dyack
authors.affiliation: University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.
authors.forename: Jane
authors.initials: J
authors.lastname: Gillis
authors.affiliation: Department of Pediatrics and Child Health, University of Manitoba and Children's Hospital Research Institute of Manitoba, Winnipeg, MB, Canada.
authors.forename: Cheryl
authors.initials: C
authors.lastname: Greenberg
authors.affiliation: Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.|Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Robin Z
authors.initials: RZ
authors.lastname: Hayeems
authors.affiliation: University of Alberta, Stollery Children's Hospital, Edmonton, AB, Canada.
authors.forename: Shailly
authors.initials: S
authors.lastname: Jain-Ghai
authors.affiliation: Division of Clinical and Metabolic Genetics, University of Toronto and The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Jonathan B
authors.initials: JB
authors.lastname: Kronick
authors.affiliation: Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montréal, QC, Canada.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Laberge
authors.affiliation: Faculty of Medicine, School of Epidemiology, 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: McGill University Health Centre, The Montreal Children's Hospital, Montréal, QC, Canada.
authors.forename: John J
authors.initials: JJ
authors.lastname: Mitchell
authors.affiliation: Genetics, Metabolism and Paediatrics, London Health Sciences Centre, Western University, London, ON, Canada.
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
authors.affiliation: University of Alberta, Stollery Children's Hospital, Edmonton, AB, Canada.
authors.forename: Komudi
authors.initials: K
authors.lastname: Siriwardena
authors.affiliation: University of Calgary, Alberta Children's Hospital, Calgary, AB, Canada.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Sparkes
authors.affiliation: Department of Paediatrics, Western University, London, ON, Canada.
authors.forename: Kathy N
authors.initials: KN
authors.lastname: Speechley
authors.affiliation: University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Stockler
authors.affiliation: McGill University Health Centre, The Montreal Children's Hospital, Montréal, QC, Canada.
authors.forename: Yannis
authors.initials: Y
authors.lastname: Trakadis
authors.affiliation: McGill University Health Centre, The Montreal Children's Hospital, Montréal, QC, Canada.
authors.forename: Sarah
authors.initials: S
authors.lastname: Wafa
authors.affiliation: Queen's University, Kingston General Hospital, Kingston, ON, Canada.
authors.forename: Jagdeep
authors.initials: J
authors.lastname: Walia
authors.affiliation: Faculty of Medicine, School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Road, Ottawa, ON, K1H 8M5, Canada.|Ottawa Hospital Research Institute, Ottawa, ON, Canada.
authors.forename: Kumanan
authors.initials: K
authors.lastname: Wilson
authors.affiliation: University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.
authors.forename: Nataliya
authors.initials: N
authors.lastname: Yuskiv
authors.affiliation: Faculty of Medicine, School of Epidemiology, 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: D000223:Adaptation, Psychological; D017028:Caregivers; D002648:Child; D005192:Family Health; D006699:Home Care Services; D006801:Humans; D008661:Metabolism, Inborn Errors; D013315:Stress, Psychological
keywords: Coping; Experiences with care; Family support; Inherited metabolic diseases; Qualitative research