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

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.


Introduction
Worldwide, 55 million people have a diagnosis of dementia [1], and this number is projected to double by 2040 [2].Only 25% of people living with dementia have received a diagnosis, and 30% are misdiagnosed [1].In the UK, Wales has a diagnosis rate of 53%, compared to 67% in Northern Ireland, 68% in England, and 73% in Scotland [3].Alzheimer's disease is the most prevalent dementia, although vascular and less typical dementia sub-types represent 25% of all diagnoses [4].People living with rarer forms of dementia are more likely to have a delayed diagnosis, be misdiagnosed [5,6], and are commonly under the age of 65 [7].The term 'rare dementia' describes atypical and inherited types of dementia that are often characterised by a younger onset and cognitive symptoms other than memory loss [4,8] including frontotemporal dementia, primary progressive aphasia, and posterior cortical atrophy.Globally, there are 3.9 million people living with dementia between the ages of 30-60 [9], representing approximately 3% of all people living with dementia.Younger people living with dementia tend to experience additional challenges relating to family, work, and finances [10][11][12][13] and have fewer opportunities for tailored support compared to people with more typical dementia types [14].An estimated 209, 600 new cases of dementia each year in the UK [2] indicates between 262 to 2358 new cases of rare dementia in Wales alone.
The problem of people living with undiagnosed dementia has been highlighted in UK policies [15,16].Although UK national guidelines are available regarding the diagnostic process for Alzheimer's, vascular, Lewy body, and frontotemporal dementia [17], there are no specific pathways for people to receive a diagnosis of other rare types of dementia.Barriers to dementia diagnosis have tended to be explored from the viewpoint of patients and service providers separately.Parker et al.'s (2020) [18] systematic review explored 30 years of patient perspectives, highlighting a lack of knowledge and perceived need alongside denial, fear, and stigma as key barriers to accessing a dementia diagnosis.For service providers, studies suggest that General Practitioners (GPs) perceive time limitations, waiting lists, poor communication between services, inadequate knowledge, and assessment tools as barriers to diagnosis [19,20] Studies concerning the perspective of diagnostic specialist services have tended to emphasise the delivery of a diagnosis [21][22][23] rather than the pathway itself.
The annual healthcare cost of dementia in the UK is £1.7 billion [3].However, studies exploring the economic cost of dementia have tended to focus on non-medical costs and Alzheimer's disease [24].Michalowsky et al.'s (2017) [25] study explored diagnostic costs in a German memory clinic finding that the diagnostic pathway cost increased depending on whether the outcome was mild cognitive impairment (376€/£329.13converted and inflated to 2021 prices), Alzheimer's disease (649€/£568.50 converted and inflated to 2021 prices), or vascular/mixed dementia (662€/£579.59converted and inflated to 2021 prices), although the highest cost was observed in the diagnosis of unspecified dementia types (705€/£617.26converted and inflated to 2021 prices).In the UK, the overall costs of diagnosis were estimated at £650 per diagnosis (£735.97 when inflated to 2021 prices) [26].People in Wales with undiagnosed dementia may feel that the emotional and physical cost of pursuing a diagnosis outweighs the benefits of receiving a formal diagnosis [27].
This study explores the experience of people living in Wales who have engaged with diagnostic services to receive a rare dementia diagnosis.It explores the economic cost to both health services and patients, together with the emotional challenges described by participants during the diagnostic process.

Design
A mixed-method cohort study, using qualitative methods and economic analysis was undertaken.Participants were recruited through the Rare Dementia Support (RDS) network as part of a programme approved by the University College London (UCL) research ethics committee (8545/004: Rare Dementia Support Impact Study by Brotherhood et al., 2020) [7].

Participants
Participants were identified through purposive sampling by identifying people in Wales already known to the RDS service [8].Inclusion criteria for participants were (1) being a person living with rare dementia or a caregiver present during the onset of symptoms and the diagnostic journey, (2) living in Wales, and (3) the capacity to discuss their experience in a semi-structured interview.
An email describing this study and inviting participation was sent to 55 members living in Wales, with two follow-up invitations if there was no response.Ten people were interviewed (one person living with rare dementia and nine family members) between August 2020 and May 2022 with interviews lasting between 33 and 97 min.

Procedure
Participants were provided with an information sheet and the opportunity to discuss any concerns prior to providing consent.Interviews were conducted using a semistructured design.Fifty-two questions were devised using Kallio et al.'s (2016) [28] semistructured interview guide by using the information gathered through a brief scoping review regarding rare dementia diagnostic pathways in Wales (interview questions are presented in Appendix A).Telephone interviews were used due to participants being located across Wales and social distancing measures inhibiting the opportunity for face-to-face interviews.

Analysis
Thematic analysis was used to explore the narratives in-depth and to allow them to be honestly presented without analytical manipulation using Braun and Clarke's framework [29,30].Interviews were listened to several times and transcribed verbatim.Initial coding was developed using an inductive approach.As the codes were analysed and the diagnostic process became clearer, themes evolved into linear transitional points within the diagnostic journey.The remaining codes and themes were further defined, redefined, and evolved into supplementary themes alongside the transitional points.Whilst each narrative was situationally distinct, the thematic similarities between participant pathways indicate that data saturation was achieved.
A bottom-up costing approach was used to cost the pathway journeys [31].Costs were presented in British Pounds Sterling (£) for the cost year 2021.The unit cost schedule costs included in the analysis (including sources of costs and costing assumptions) can be viewed in Appendix B. Costs are broken down for each stage of the pathway journey with total cost rows rounded to the nearest whole pound (£).The economic analysis was conducted from a National Health Service (NHS) and wider patient perspective, including costs directly incurred by the patient through private consultations and opportunity costs of potential lost income from attending appointments and investigations [32].The NHS is a publicly funded healthcare system.Patients entitled to NHS treatment may choose to pay to access NHS or private healthcare providers, usually to avoid waiting lists or to access treatment unavailable from the NHS [33].Consultation time information used to calculate opportunity costs for patients attending consultations was based on the consultation duration information provided in the published unit costs (Appendix B), apart from one instance, where a participant provided information on the duration of their appointment.Opportunity costs for travel time attending appointments were based on the patient receiving the services i.e., the travel time for one person.Lost income was valued at the UK national living wage in 2021 (£8.91 per hour for people aged 23 and over in April 2021 [34]).Travel time and mileage costs were also calculated if travel duration and mileage information were provided by participants.A sensitivity analysis was conducted to show the difference in opportunity costs from lost leisure time valued at £14.82 per hour in the cost year 2021, converted and inflated from 16 Euros per hour in 2014 from published estimates [35].Sensitivity analysis result tables are available in Appendix C.

Results
Nine participants were family caregivers, and one was a person living with a rare dementia.Seven of the participants were female and three were male, including the person living with dementia.The ages of the participants ranged from 42 to 85, with a mean of 62 and a median of 72.The person living with dementia had a diagnosis of semantic dementia, a variant of frontotemporal dementia.Their capacity to consent was assessed as dictated by the Mental Capacity Act 2005 [36] by the lead researcher, a registered nurse in mental health.Participants shared experiences relating to the diagnosis of frontotemporal dementia (6), primary progressive aphasia (3), and posterior cortical atrophy (1).All participants were White British.
The thematic analysis revealed two distinct experiential themes concerning how the person felt involved in the diagnostic process and their experience of disputes between stakeholders.These occurred alongside five transitional points across the diagnostic pathways of people living with rare dementia: Initial referral 3.

Involved in the Diagnostic Process
Caregivers often felt excluded from the diagnostic process and the sharing of the diagnosis.One caregiver was excluded from the diagnosis meeting despite her husband's limited retention and understanding of the meeting: 'I can't understand when you go into a consultant, and you've got someone who's got memory problems and speech problems, and yet the partner, the wife, isn't allowed'.(Participant 1) This exclusion was felt when the diagnosis was impersonally delivered, through a letter rather than a conversation.Other participants were less concerned about their involvement in the process, regarding themselves as an object to be examined rather than an active participant: 'I turned up, I submitted myself to whatever they wanted to do.From an engineering point of view, I wasn't part of the plan'.(Participant 2) The sense of being uninvolved was also related to caregivers having to 'fight' and 'chase' clinicians for appointments and referrals.This was not regarded as positive involvement in the pathway to diagnosis but a necessary action to ensure that the diagnosis continued to move forward: 'I'm always double-checking things now, if a referral has been made.And I'm ringing up and chasing'.(Participant 1) Participants also raised larger concerns about what happened to people who lacked the ability to 'chase' and fight': 'Those who do not push hard enough will just drop into an abyss'.(Participant 4) Whilst all participants felt that their inclusion in the diagnostic process was not automatically assumed by services, there were differing opinions on whether their involvement was integral or inconsequential to the progression of the pathway.

Disputes between Stakeholders
Several caregivers described disputes between themselves and the person living with rare dementia.These were often caused by a lack of insight into behavioural and cognitive changes, resulting in a refusal to seek help: 'My wife wouldn't co-operate.She wasn't being bolshy or difficult, but she could not see why we wanted her to see a doctor'.(Participant 7) Some participants felt that GPs were unsure about who they should refer to, with services disputing that the referral was appropriate: 'But then, he rang back and said that he'd contacted the memory clinic and the memory clinic, had said that he is too young, to be referred to somewhere like that'.(Participant 1) Disputes led to extra costs, as participant 1 ′ s difficulties in securing services led to a personal outlay of £895 for private consultations.Caregivers also felt that they were expected to align with the service provider's expectations rather than the service adapting to meet the needs of the person.One person's assessment was delayed due to the service only offering clinic-based appointments.The caregiver described their husband's refusal to leave the house, as part of his symptoms, but still be expected to attend the clinic: 'They wouldn't come here to us.We have, and I have pleaded with them, look I can't get him out and they've, no, he's got to go, you've got to get him there'.(Participant 6) The emotional impact of dealing with an unhelpful service alongside her husband's symptoms also resulted in participant 6 relying on private healthcare to expedite the diagnostic process.The caregiver found that after being informed that a psychiatry appointment by a referring psychologist was urgent, they had been placed at the bottom of the waiting list: 'The psychologist had said I'm going to pass him over as an urgent patient.And I heard nothing and when I rang to speak to the secretary to find out where he was on the list, they said, oh, the doctor said it's not an emergency'.(Participant 6) Whilst some participants felt that a formal diagnosis of dementia provided some relief, as they now understood what was happening, others continued to experience disputes between clinicians regarding the accuracy of the diagnosis.These disputes prevented some participants from accessing care services and elongated the emotional cost of the diagnostic pathway.

Initial contact
Tables 1 and 2 provide a breakdown of the initial contact costs and initial referral costs, respectively.Initial contact costs for nine participants were funded by the NHS (healthcare system in the United Kingdom), and one participant reported an initial referral that was privately funded by the patient/family (Table 1).Initial contact was typically with a GP, with exceptions noted in Table 1.The least costly consultation was a GP appointment (£39.23),whereas the highest costing consultation was a privately funded consultant neurologist appointment valued at £250 (Table 1).For the ten participants, the total cost for the initial contact was £811 (£561 for NHS costs) when excluding travel and opportunity costs.When opportunity costs for patient consultation time, travel time, and mileage costs were considered, the total cost for initial contact was £911 (Table 1).Only one participant (participant 3) reported the length of time that they attended the initial contact appointment (480 min, Table 1) and this was acknowledged as an outlier in the data.For the other initial contacts reported by participants, a 9.22-min consultation time was assumed for GP appointments, and a 60-min consultation time for all other contacts was based on the consultation duration information provided in the published unit costs (Appendix B).When excluding this outlier of 480 min reported by participant 3, the total cost for initial contact (including opportunity costs) would be £839.72.There was more diversity in initial referrals, with some people referred for scans whilst others went directly to assessing clinicians (Table 2).All the initial referral contacts for the ten participants were funded by the NHS (Table 2).Consultation with the community mental health nurse was the least costly initial referral (£44), and a memory clinic appointment had the highest cost (£528).
Further referrals-provider Table 3 provides the cost breakdown of further NHS referrals and activity following the initial contact and referral.The total costs to the NHS for referrals and activity following the initial contact for the ten participants were £10,854 (Table 3).

Further referrals-private
The decision to access private care was typically based on the potential to expedite the diagnostic process but also dependent on the person's financial or insurance position: 'Fortunately, he had a work cover on an insurance policy, which meant he could get a faster appointment with the neurologist. ..if we had to wait 18 months or more, you know, we still wouldn't have known what was going on'. (Participant 5) Table 4 provides the costs of private consultations (directly incurred by the patient) following the initial contact and referral.Following the initial contact, five participants resorted to paying privately for further investigations and consultations with clinicians at a total consultation cost of £2440 (Table 4).When also considering travel and opportunities, the total cost was £2562 (Table 4).

Diagnosis
Many caregivers described being shocked by the diagnosis, but upon reflection, they were angry about the lack of or quality of information provided: 'I wish to stress that very clearly, I am very annoyed that I wasn't given more information'.(Participant 8) Receiving a diagnosis was perceived by several participants as 'luck', encountering a clinician with knowledge about rare dementia rather than due to a clear pathway.Table 5 provides the total costs of the diagnostic pathway.Participant 10 had the lowest costing pathway journey at a total cost of £503, whereas participant 2 had the highest costing pathway journey at a total cost of £8043 (Table 5).The average total pathway cost across the ten participants was £1636 (Standard Deviation (SD) 2288.53).When excluding the outlier of 480 min (reported by participant 3) in our opportunity cost calculation for patient consultation time, the average total pathway cost across the ten participants was £1629 (2290.37).
Table 6 provides a breakdown of resource use costs along the pathways to diagnosis from the healthcare system (NHS) and patient (privately funded by families) perspectives.In terms of total NHS resource use across the pathways to diagnosis, the ten participants reported a total of 73 separate resource use items, at an average cost per item of £173.33 (SD 180.14).Of the participants who had reported resource use that was privately funded by the patient/family, 12 separate resource use items were reported at an average cost per item of £224 (SD193.89).The NHS and privately funded resource use items with the highest cost were memory clinic appointments (£528) and CT scans (£695), respectively (Table 6).

Discussion
The shared narratives illustrated an emotional cost through the variation in the diagnostic process, with some participants emotionally suffering more than others, as evidenced in the two themes.The barriers to diagnosis shared by participants were similar to previous studies about the diagnosis of dementia [18][19][20], including poor communication between stakeholders, disputes regarding referrals to services, or the diagnosis itself.Inadequate GP knowledge led to recurring visits to initiate a referral or inappropriate initial referrals.This corresponds to the experience of people living with young onset dementia in Canada whose diagnosis was delayed as healthcare professionals attributed their symptoms to causes other than dementia, which resulted in extended pathways of tests and travel [37].
The emotional and economic costs of the pathway are interlinked, as costs were seen to rise when the pathway to diagnosis was unclear, resulting in more referrals and disputes.Unlike people navigating the established diagnostic pathways for dementia, participants perceived the eventual diagnosis as the result of 'luck' rather than a clear pathway.As indicated in Table 5, the highest total diagnostic pathway cost was £8043 (participant 2) and the lowest total diagnostic pathway cost was £462 (participant 4).The variation in the economic cost between participants is indicative of this perceived 'luck' as three people received a timely diagnosis at an economic cost of £462, £503, and £570, which is lower than the diagnosis cost of £617.26 (inflated to 2021 prices) reported in Michalowsky et al.'s (2017) [25] study for people with unspecified dementia.However, of the people receiving this more timely and less challenging diagnosis, only participant 7 was able to do so without accessing private healthcare, suggesting that a personal economic burden is required for a timely diagnosis of rare dementia.Although participant 4 was perceived to have a comparatively straightforward diagnosis with a low economic cost, potentially supporting the role of a community nurse as an initial referral, it should be noted that more than 50% (£250 of £462) of the overall cost was privately funded by the patient/family.A total cost of £2690 for private consultations was paid between six participants.'Luck' in dementia services aligns with research indicating that a 'postcode lottery' exists concerning post-diagnostic information and support depending on location [38,39].The overall experience of receiving post-diagnostic information in this study was regarded as poor.
The economic and emotional impact of the pathways was illustrated when participant 6 was expected to bring their husband to a clinical appointment despite his contrary symptoms.The economic cost to the NHS increased as appointments were arranged, cancelled, or unattended.The economic cost to the participant was observed as opportunity costs increased due to the time spent in dispute, which led to further anxiety alongside his existing symptoms.The lack of knowledge in the service corresponds to other studies [18][19][20] observing a delayed diagnosis and access to support services.
A delay in post-diagnostic support was also perceived in participant 1's experience when they were excluded from the diagnostic meeting.The perception of feeling uninvolved results in inadequate post-diagnostic support.Positive post-diagnostic support includes specialist advice and opportunities to have a voice and a consideration of family relationships [40].The perceived 'luck' of rare dementia diagnosis suggests that positive examples of support are uncommon in Wales.However, whilst 'luck' may appear to be an unexpected quality of receiving a diagnosis of any type of dementia, the perspectives of people in this study suggest that, unlike a previous study in Wales [27], pursuing and receiving a formal diagnosis outweighs the emotional and physical cost of the pathway.

Limitations of This Study
Whilst 10 participants limit the transferability of the economic findings, this study included a hard-to-reach population in Wales and is a novel achievement.The smaller number also supported an in-depth qualitative analysis.Gathering data using semistructured interviews allowed the narratives of participants to be heard [41,42], providing reliable and comparable qualitative results [42].Methodologically, telephone interviews were sound as these aid agenda-driven questioning [43] and are a viable method to collect rich qualitative data on sensitive subjects [29].
This study only included people and family caregivers who had a confirmed diagnosis of rare dementia.Including people who had received similar assessments but had not received a rare dementia diagnosis may have illustrated different perspectives of diagnostic pathways.

Conclusions
There are substantial costs to a rare dementia diagnosis, although many of these are wasted as economic costs and emotional burdens rise due to disputes and confusion over the diagnostic process.The education of primary care referrers regarding rare dementia may reduce some of the inappropriate referrals perceived in this study.However, this study has illustrated that referrals to psychiatric services may not immediately lead to a diagnosis, depending on the knowledge of the clinician.Pathways for more typical forms of dementia indicate the services expected to provide a diagnosis and crucially, diagnostic support.Whilst clearer pathways are required, establishing which clinical area should provide the diagnosis and post-diagnostic support should encourage the development of education programmes in those settings by providing clinicians with better knowledge about rare dementia and alleviate concerns regarding whether the pathway is worth taking for people living with rare dementia and their families.Little is known about pathways to rare dementia diagnoses in Wales, and the findings of this pilot work can support policy documents and the design of services to acknowledge the process that patients go through to achieve a diagnosis.Q15.How long did you have to wait between your initial contact with health services and a referral being made?Q.16 Who completed the referral to the diagnostic service when it happened?Q.17

Appendix
Which service were you referred to? e.g., Memory service, neurology, or psychology Q.18 How long did you remain on a waiting list before being seen by the service?Q.19 How far was the service geographically located from your home address?Request location of service if distance is unknown Q20.What mode of transport did you use to attend this service?Q.21 Were you referred to any support services between the time of first contact and receiving your diagnosis?If YES, request the details of these services.Year?Sessions attended?Q.22 Have you at any point received an assessment of your needs as a carer?Q.23 How long did you wait for your diagnosis following your first contact with the diagnostic service?Q.24 How involved were you in the diagnostic process?Q.25 Who was the first to think this might be a rare dementia?Q. 26 If not by the professional, please specify how you/others came to think it was a rare dementia.Q.27 Who told you about the diagnosis?Year?Length of appt?Q.28 How much do you agree or disagree that you knew what was going to happen after the diagnosis?Q. 29 Do you think the diagnosis of dementia, for the person you care for, was delayed because of other pre-existing conditions?Q.30 Which conditions do you think delayed diagnosis?Q.31 Has the person you care for had any additional conditions diagnosed since their dementia diagnosis?Q.32 If applicable: Thinking about the additional condition(s), do you feel that the diagnosis was delayed, or complicated, due to the existing dementia diagnosis?Q. 33 Do you feel that the overall treatment of any additional conditions for the person with dementia has changed since their dementia diagnosis?Q.34 How did you feel about the way you were given your diagnosis?Q.35 How did you feel about the diagnosis?Q.36 What information were you given about the diagnosis?Q.37 As a carer, how would you rate the quality of information you have received from professionals since the diagnosis?Q38 Did you feel that you understood the diagnosis after the health provider explained what it was?Q.39 Were you and the person you care for able to have a practical conversation about the future following their dementia diagnosis?Q.40 Immediately following diagnosis, what interventions were discussed and/or initiated?Use the list below to support the participant in recalling these possible interventions.Medication Activities for the person living with rare dementia Carer support Befriending services Carer education Day services Cognitive stimulation therapy Cognitive rehabilitation Other Q41.When did you become aware of Rare Dementia Support?Q42.How did you become aware of Rare Dementia Support?Q.43 Since diagnosis, have you been referred to any other services?Use the list below to support the participant to recall these possible interventions.Medication Activities for the person living with rare dementia Carer support Befriending services Carer education Day services Cognitive stimulation therapy Cognitive rehabilitation Other Q.44 What support, if any, do you feel would have made the greatest difference to both you as a carer and the PLWD?Q.45 How much do you agree that the following are important in helping to manage the symptoms of dementia?

Table 1 .
Initial contact costs.

Table 3 .
Further NHS referral and activity costs.

Table 4 .
Further private consultation and activity costs.

Table 5 .
Total costs of diagnosis pathway.

Table 6 .
Resource use costs along the pathways to diagnosis from the healthcare system (NHS) and patient (privately funded) perspectives.

A
Interview QuestionsQ1.At the onset of symptoms, what did you feel was happening?Did you have any alternative explanations for the symptoms?

Table A1 .
[35]ou require support from health services, do you know how to access this?Q.49Fromyourprevious experiences, do you feel that support would be provided in a timely manner?Q.50 Overall, how would you describe your journey from the initial recognition of symptoms to receiving a diagnosis of a rare dementia?Q.51 Taking everything into account, how satisfied or dissatisfied are you with the support you have received since the diagnosis?Q.52 What changes would you suggest to services for people affected by rare dementia in Wales?Unit Cost Schedule for the Economic Analysis.Initial contact costs (lost leisure time forgone valued at £14.82 per hour[35].