Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

Abstract

BackgroundPatient-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.MethodsWe 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.ResultsWe 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.ConclusionHealth 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.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

“…Previous research in this area has identified parents’ use of a range of strategies that included proactive coping, other positive coping strategies (e.g., religion, emotional/social support), and less adaptive means of coping (such as substance use) [24]. Similar to our study, others have identified social support, including close family and friend relationships [5, 20, 25, 26] and social media [27], as important to caregiver and family well-being. These informal support systems were commonly identified as important in our study, while the receipt of formal psychological or counselling services was mentioned less frequently by participants.…”

“…Families’ concerns about the social development of children with IMD may be exacerbated during life transitions, particularly adolescence [25, 27], and may be more prevalent for IMD characterized by significant physical disability [25]. In our study we identified social challenges in families of relatively young children (up to age 7) that were mainly connected to the need for specialized diets, and thus we were unable to corroborate previous research about transitions to adolescence and adulthood.…”

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

“…Importantly, adolescents reported less frequently about social support than younger patients but still encountered experiences of stigmatisation, resulting in an imbalance of constraints and resources. Our results thereby suggest that transitional phases (to school, to adolescence), often combined with social and physical challenges, deserve special attention, as this has been reported before for other inborn errors of metabolism (Packman et al 2012;Khangura et al 2015). Sharing meals with others is known to have high social significance; hence, patients living with dietary restrictions experience numerous potentially stigmatising situations (Diesen et al 2014).…”

“…Our results suggest that families with young children in particular would benefit from support targeting these uncertainties and coping with diagnosis and treatment. In addition, immediately at diagnosis, patients should be informed about support groups, which have been shown to be important informational resources in rare disorders (Hall 2013;Khangura et al 2015). Accordingly, the majority of participants in this study greatly appreciated the exchange with others in the context of the interviews and expressed their wish to have this opportunity more frequently.…”

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

“…Interestingly, the use of HrQoL instruments generally improves communication between patients and the medical team, which results in enhanced patients' wellbeing (Velikova et al 2004). This is of particular importance during transitional phases such as transition to kindergarten, to school, and to adolescence (Packman et al 2012;Khangura et al 2015), when the impact of the disease and specific needs may change.…”