The Diagnostic Pathway Experiences of People Living with Rare Dementia and Their Family Caregivers: A Cross-Sectional Mixed Methods Study Using Qualitative and Economic Analyses

Abstract

The pathways for receiving a diagnosis of a rare type of dementia are poorly understood. Diagnostic challenges decrease access to relevant health promotion activities and post-diagnostic support. This study was focused on pathways experienced by people affected by rare dementia in Wales, United Kingdom (UK), considering the practical, emotional, and economic consequences. Semi-structured interviews were completed with 10 people affected by rare dementia across Wales, UK (nine family caregivers and one person living with rare dementia). The interview data were subject to a thematic analysis and a bottom-up costing approach was used to cost the pathway journeys. Five transitional points occurred across the diagnostic pathway (initial contact, initial referral, further referrals—provider, further referrals—private, and diagnosis) alongside two further themes (i.e., involved in the diagnostic process and disputes between stakeholders). The timeliness of the diagnosis was perceived to often be subject to ‘luck’, with access to private healthcare a personal finance option to expedite the process. Higher economic costs were observed when, in retrospect, inappropriate referrals were made, or multiple referrals were required. The confusion and disputes relating to individual diagnostic pathways led to further emotional burdens, suggesting that higher economic costs and emotional consequences are interlinked. Clearer diagnostic pathways for rare dementia may prevent unnecessary service contacts, waiting times, and associated distress. Prioritising appropriate and timely service contacts leads to diagnosis and support to families and enables people to increase control over their health. Appropriate diagnostic pathways may be less costly and reduce costs for families.

'A Torch, a rope, a belly laugh’: Engaging with the multiple voices of support groups for people living with rare dementia

“…For example, each group in our study is a neurodegenerative (biological) group. Yet, through a combination of being misdiagnosed and/or the length of time from initial symptoms to diagnosis, being younger than 65 years old at onset, lack of care pathways (92), and few situated structures of support, "new social spaces for PLwRD and care-partners' support are being cultivated" (40, p. 8). These relatively new biosocial groups, initially determined by a rare dementia diagnosis, have come to embody new social spaces and social networks that begin to create a sense of biosolidarity (93).…”