Résumé
Background: 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. Methods: 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. Results: 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. Conclusions: 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.
| Langue d'origine | English |
|---|---|
| Pages (de-à) | 1-10 |
| Nombre de pages | 10 |
| Journal | Orphanet Journal of Rare Diseases |
| Volume | 11 |
| Numéro de publication | 1 |
| DOI | |
| Statut de publication | Published - déc. 7 2016 |
| Publié à l'externe | Oui |
Note bibliographique
Funding Information:Seven members of the research team collaborated on an initial thematic analysis of the first three interview transcripts [15, 16], to identify broad categories and codes and to revise the interview guide. One researcher (SSi) coded all subsequent interviews, with review and verification by a second researcher (BKP). Analysis took place concurrently with the interview process so that emergent themes could be incorporated into subsequent interviews [17]. Discussions among team members were held regularly to review the transcripts, discuss emerging themes, assess the degree of saturation, and identify priorities for participant recruitment. We actively sought negative examples during the analysis of the data, i.e., findings that were inconsistent with the overall results that were emerging from the study. This was made possible through querying emerging themes in subsequent interviews. The analysis was supported by NVivo software (http://www.qsrinterna-tional.com). Participants who consented to be recontacted for this purpose received a preliminary summary of the study findings and were invited to submit any questions or comments to the investigators.
Publisher Copyright:
© 2016 The Author(s).
ASJC Scopus Subject Areas
- Genetics(clinical)
- Pharmacology (medical)
PubMed: MeSH publication types
- Journal Article