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UBC Theses and Dissertations

Characterizing the experience of accessing medical care for children with rare and undiagnosed complex conditions Dewan, Tammie Joanne


There is increasing awareness of rare disease as a distinct entity. Advances in diagnostic testing have identified over 7000 individual rare diseases affecting millions of patients worldwide, many of them children due to the frequent genetic etiology of these conditions. A medical system that is often based on disease-specific expertise and treatment must adapt to meet the needs of those with rare conditions. However, there is little known about the unique experiences of parents of children with very rare or undiagnosed diseases in accessing medical care. An in-depth look into their circumstances will identify areas for improvement and improve the family experience of care. The objectives of this study were to analyze this parent experience particularly regarding their relationships and communication with physicians. In addition, the parent perspectives regarding the connections between themselves and health care providers, as well as between health care providers, will be explored. Participants were recruited through the TIDE-BC (Treatable Intellectual Disability Endeavor of British Columbia) Complex Diagnostic Clinic, as parents of children with: (1) “Complex intellectual disability,” defined as undiagnosed intellectual disability with other prominent features; and (2) Ongoing care from at least three health professionals. Semi-structured interviews with parents explored a number of topics including: their experience of their child’s illness and its impact on the family, accessing necessary medical care for their child, developing their own expertise and relating to physicians. Interviews were transcribed and analyzed using discourse analysis methodology. Themes identified included the pervasive and multi-faceted nature of uncertainty and its contribution to changes in roles for parents, physicians and peers. A key gap identified was a lack of coordination of care and lost opportunity for collaboration amongst professionals and with the family. Addressing these unique experiences and moving towards non-categorical design of health care service models will better serve the needs of children with rare and undiagnosed conditions.

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