Abstract
BackgroundWe 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.MethodsFrom 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.ResultsWe 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.ConclusionsThe 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.
Highlights
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
Eligible participants for the present study were parents/guardians of children enrolled in Canadian Inherited Metabolic Diseases Research Network (CIMDRN)’s cohort study at one of four of these participating metabolic clinics who had consented to be contacted to participate in an interview and/or survey
From the CIMDRN cohort at the four centres listed above, for the present study we used a purposive sampling method to achieve a sample of parents/guardians that represented a diverse group of children receiving care at different centres, with different IMD, and of different ages [10]
Summary
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. Advancements in medical interventions have increased life and health expectancy in individuals with IMD, with new therapies appearing at an accelerating pace [2] Both disease manifestations and treatment regimens, which frequently involve highly specialized diets and medications, may be important sources of stress and have important impacts on quality of child and family life [3,4,5,6,7] and on the health care system [8]. Research to describe families’ perspectives and experiences in caring for children with IMD, both at home and when receiving care, can help clinical- and systemlevel providers to better understand how to optimize their support of children with IMD and their caregivers In this qualitative interview study, we aimed to understand parents' experiences with the management of their child's IMD, the impact of the disease and its management on child and family life, and their perceptions about their interactions with the health care system
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