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.

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ObjectivesThe transition from pediatric to adult care is a high-risk period for the emerging adult with diabetes. We aimed to determine adequacy of pediatric transition care structures and explore the pediatric diabetes care provider’s perceptions of transition care.Research design and methodsIn-depth interviews with pediatric diabetes care providers from 12 diabetes centers in Quebec were conducted. We queried alignment with Got Transition’s six core elements of healthcare transition, experiences, and barriers to transition care. Interview transcripts were reviewed for themes.ResultsThree centers (25%) reported having any elements of formal and structured transition care preparation and planning. When referrals were within center (n=8), pediatric providers perceived that transition was smoother; information sharing relied heavily on verbal communication rather than documented medical summaries. Barriers included lack of adult providers, less flexibility in adult care scheduling, patient struggles with multiple new adult responsibilities, and insufficient understanding by adult providers of these challenges. There was a perception that the quality of pediatric care was better than adult care. Moving out of the pediatric care geographical region appeared to increase risk for poor follow-up. Patient satisfaction and regular follow-up in adult care were thought to be good measures of transition success. Programs that included overlap between pediatric and adult care were perceived as ideal.ConclusionsImportant gaps in transition care practices persist. Efforts should focus on improving education in transition practices for pediatric care providers and establishing formal transition policies and structures at the institutional level.