Challenges Affecting Access to Health and Social Care Resources and Time Management among Parents of Children with Rett Syndrome: A Qualitative Case Study.

Rare diseases face serious sustainability challenges regarding the distribution of resources geared at health and social needs. Our aim was to describe the barriers experienced by parents of children with Rett Syndrome for accessing care resources. A qualitative case study was conducted among 31 parents of children with Rett syndrome. Data were collected through in-depth interviews, focus groups, researchers' field notes and parents' personal documents. A thematic analysis was performed and the Standards for Reporting Qualitative Research (SRQR) guidelines were followed. Three main themes emerged from the data: (a) essential health resources; (b) bureaucracy and social care; and (c) time management constraints. Parents have difficulties accessing appropriate health services for their children. Administrative obstacles exist for accessing public health services, forcing parents to bear the financial cost of specialized care. Time is an essential factor, which conditions the organization of activities for the entire family. Qualitative research offers insight into how parents of children with Rett syndrome experience access to resources and may help improve understanding of how Rett syndrome impacts the lives of both the children and their parents.

"Living an Obstacle Course": A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome.

Background: Rett syndrome has considerable effects on the quality of life of affected children, impairing everyday activities and potentially impacting the life of both the caregivers and the family. Our aim was to explore the experiences of a group of caregivers of children with Rett syndrome with regards to living and caring for their children. Methods: We conducted a qualitative case study to examine how 31 caregivers of children with Rett syndrome perceived living with their children. Data were collected through in-depth interviews, focus groups, researchers' field notes and caregivers' personal documents. A thematic analysis was performed following the Consolidated Criteria for Reporting Qualitative Research (COREQ) guideline. Results: The experience of being a caregiver of a child with Rett syndrome was expressed as being akin to an "obstacle course", and was described via three main themes: (a) looking for answers, with two subthemes identified, namely 'the first symptoms', and 'the need for a diagnosis'; (b) managing day to day life, with the subthemes 'applying treatments', and 'learning to care'; and (c) money matters. Conclusions: Rett syndrome has a considerable impact on the lives of the caregivers involved. The health-care process and the management of economic resources are some of the aspects highlighted by caregivers. These findings have important implications for the planning of support services, health systems and health policies.