Participant characteristicsSummary

We received 1604 survey responses, including from patients (n = 856), parents or carers (n = 497) and healthcare professionals (n = 251). Responses with less than 20% of data fields completed were excluded (n = 96, 11% patients; n = 51, 10% carers). This resulted in a final sample of 1457 responses (n = 760 patients, n = 446 parents/carers, n = 251 healthcare professionals). Due to multiple overlapping distribution methods (using convenience and snowball sampling), it was not possible to calculate a response rate.

Patients and carers

Patients and parents/carers were recruited from all regions in the UK. More participants were female (patients: n = 434, 85%; carers: n = 235, 88%) than male (patients: n = 73, 14%, carers: n = 32, 12%). Most participants reported their ethnicity as white. For patients, the most common age ranges of respondents were between 45–64 (45–54: n = 124, 24%; aged 55–64: n = 115, 23%) and for parents and carers, the most common age ranges of respondents were between 35–54 (35–44: n = 86, 32%, 45–54: n = 94, 35%).

More parents/carers reported caring for a child up to the age of 18 (n = 181; 68%), compared to those reporting caring for an adult over 18 (n = 87; 19%). The majority of parents/carers were the parent of a patient with a rare condition (n = 192, 71%), though a small percent were either the son or daughter (n = 41, 15%) or spouse or partner (n = 23, 9%) of a person living with a rare condition.

The majority of participants had received a rare disease diagnosis (patients: n = 736; 98%; carers: n = 400, 91%), but fewer participants had diagnoses confirmed by genetic testing (patients: n = 223, 30%; carers: n = 255, 64%). Collectively, patients reported 221 rare diseases, and carers reported 259 rare diseases. See Table 2 for more information.

Table 2 Sample characteristics of patients and parents/carersHealthcare professionals

Healthcare professionals were recruited from all regions in the UK. Participants reported mixed clinical expertise in rare diseases, with 56% (n = 136) reporting they have clinical expertise in rare diseases and 44% (n = 107) reporting that they do not have clinical expertise in rare diseases; perhaps demonstrating that many healthcare professionals working with rare diseases may not be rare disease specialists but rather seeing rare disease patients within their usual healthcare professional role.

Healthcare professionals reported being involved in a range of different areas. The most commonly reported healthcare professional activity was providing information/signposting or counselling (n = 189; 75%). A range of healthcare professional roles were reported, including hospital doctors (n = 78, 31%), nurse/midwives (n = 39, 16%) and allied healthcare professionals (n = 28, 11%). See Table 3 for more information.

Table 3 Sample characteristics of healthcare professionalsFindingsWhat levels of access to combinations of elements and individual elements of care coordination (care coordinators, specialist centres, care plans) do patients and carers report?Access to combinations of care coordination elements

Findings highlighted that the most common ‘combination’ of elements of care coordination reported by patients (n = 326, 54%) and parents/carers (n = 115, 33%) was having access to none of the elements of care coordination (care coordinator, care plan and specialist centre). A small minority of participants reported having access to all three of the elements (care coordinator, care plan, specialist centre) (n = 14, 2% patients; n = 17, 5% parents/carers), or a combination of two elements, such as care coordinator and specialist centre (n = 30, 5% patients; n = 5, 1% parents/carers). See Table 4 for more details.

Table 4 Patients’ and carers’ reported access to combinations of care coordination elementsAccess to individual elements of care coordination

Findings on access to individual elements of care coordination (care coordinators, specialist centres and care plans), as reported by patients, parents/carers are summarised in Table 5.

Table 5 Patients’ and carers’ reported levels of access to three elements of care coordination (care coordinators, specialist centres, care plans)

Care coordinators Findings indicated that access to a formal care coordinator was infrequently reported by patients (n = 92, 12%) and parents/carers (n = 62, 14%); with the majority of patients (n = 570, 77%) and carers (n = 325, 76%) reporting that they do not have a formal care coordinator.

Of those who reported having a formal care coordinator (n = 92 patients, 62 parents/carers), 36% (n = 33) of patients and 31% (n = 19) parents/carers reported that the formal care coordinator was employed specifically for the role. However, the majority of participants (patients: n = 51, 56%; carers: n = 38, 61%) reported that a healthcare professional coordinated their care as part of another role. Examples of the most frequent roles reported were hospital doctors (patients: n = 25, 49%, carers: n = 9, 24%), GPs (patients: n = 14, 27%, carers: n = 5, 13%), specialist nurses (patients: n = 7, 14%; carers: n = 9, 24%).

Participants reported that the most common roles managed by the formal care coordinator included: liaising between healthcare professionals (patients: n = 69, 75%, carers: n = 45, 93%), scheduling appointments (patients: n = 56, 64%, carers: n = 23, 37%), being a contact for emergency or acute episodes (patients: n = 35, 38%, carers: n = 21, 34%), updating care plans (patients: n = 32, 35%, carers: n = 23, 37%), ensuring availability of health records (patients: n = 25, 27%, carers: n = 8, 13%) and liaising with patients to coordinate multidisciplinary clinics (patients: n = 21, 23%, carers: n = 18, 29%). See Table 5 for more information.

What roles do participants prefer a formal care coordinator to manage, versus the patient/carer? A majority of respondents from all three groups (patients, carers, healthcare professionals) reported preferences for all care activities shown in Table 6 to be managed by a formal care coordinator, except for scheduling appointments—which all groups preferred to be managed by the patient and carer.

Table 6 Preferences for activities managed by the patient/carer or formal care coordinator

Specialist centres Not having a specialist centre available (patients: n = 250, 41%; parents/carers: n = 168, 48%) was more commonly reported by patients and carers than having a specialist centre available (patients: n = 235, 39%, carers: n = 130, 37%).

Of those who had a specialist centre available, approximately a third of patients (n = 196/604, 32%) and carers (n = 114/348, 33%) reported attending the specialist centre.

Participants who attend specialist centres (n = 196) reported seeing a range of different healthcare professionals, including: doctors who are experts in rare/undiagnosed conditions (patients: n = 166, 85%, carers: n = 86, 75%), specialist nurses (patients: n = 124, 63%, carers: n = 74, 65%), doctors who are experts in specific aspects of their health (patients: n = 111, 57%, carers: n = 72, 63%), and physiotherapists (patients: n = 32, 16%; carers: n = 35, 31%). Participants reported a range of services being delivered at specialist centres, including appointments with rare condition experts (patients: n = 170, 87%, carers: n = 83, 73%), appointments with different healthcare professionals (patients; n = 118, 60%, carers: n = 80, 70%), having multiple appointments during one visit (patients: n = 90, 46%, carers: n = 62, 54%), diagnostic and screening procedures (patients: n = 86, 44%, carers: n = 53, 46%), and access to patient support groups or charities (patients: n = 79, 40%, carers: n = 35, 31%). See Table 5 for more information.

Care plans Care plans were more frequently reported by parents and carers (n = 159, 44%) than by patients (n = 59, 10%). However, a majority of patients (n = 478, 78%) and almost half of parents/carers (n = 165, 46%) reported not having a care plan. See Table 5 for more details.

Of those who had a care plan, responses differed between patients and carers on who was primarily responsible for keeping care plans up to date. Patients most frequently reported that responsibility was with: the patient (n = 15, 27%), the hospital doctor (n = 15, 27%) or a shared responsibility between professionals (n = 8, 14%). Carers most frequently reported that the responsibility was with the carer (n = 59, 37%), or a shared responsibility between professionals (n = 19, 12%). Many of the patients and carers reported being involved in developing their care plans (patients: n = 36, 64%, carers: n = 135, 85%).

Patients and carers reported a range of aspects that are addressed in their care plans, including general information and medical summaries (patients: n = 51, 91%, carers: n = 142, 89%), an assessment of health needs (patients: n = 39, 70%, carers: n = 117, 74%), a plan of care for emergency or acute episodes (patients: n = 19, 34%, carers: n = 77, 48%) and an assessment of current non-health needs (patients: n = 11, 20%; carers: n = 80, 50%). Patients and carers felt that the three most useful items to be included in a care plan were: an assessment of current health needs (patients: n = 485, 64%, carers: n = 273, 61%), general information and a medical summary (patients: n = 459, 60%, carers: n = 259, 58%) and a plan of care for emergency or acute episodes (patients: n = 459, 47%, carers: n = 196, 44%).

What levels of access to three elements of care coordination (care coordinators, specialist centres, care plans) do healthcare professionals report?

Findings on access to individual elements of care coordination (care coordinators, specialist centres and care plans), as reported by healthcare professionals are summarised in Table 7.

Table 7 Healthcare professionals’ reported level of access to three elements of care coordination (care coordinators, specialist centres, care plans)Care coordinators

Around half 51% (n = 118) of healthcare professionals reported that the majority of their patients do not have access to a formal care coordinator, in comparison to 35% (n = 82) who do. Some healthcare professionals (14%, n = 33) were unsure whether their patients had a formal care coordinator.

Of those healthcare professionals who reported that their patients have a formal care coordinator (n = 82), 19% (n = 15) reported that the formal care coordinator was employed specifically for the role. However, the majority of healthcare professionals (n = 61, 75%) reported that a healthcare professional coordinates their care as part of another role. Examples of the most frequent roles reported were hospital doctors (n = 16, 26%), specialist nurses (n = 19, 31%) and community paediatricians (n = 13, 21%).

Healthcare professionals reported that the most common roles managed by the formal care coordinator included: liaising between healthcare professionals (n = 75, 75%), liaising between health and non-healthcare professionals (n = 69, 69%), advocating on the patient’s behalf (n = 63, 63%), coordinating transitions of care (n = 60, 60%), and updating care plans (n = 55, 55%). Healthcare professionals reported that the main factors determining whether someone will have access to a formal care coordinator included: the complexity of their disease (n = 124, 49%), the availability of care coordinators (n = 124, 49%), the extent of the patient’s need for support (n = 113, 45%), and budgetary constraints (n = 87, 32%). See Table 6 for more information.

Specialist centres

In comparison to the patient/carer findings, the majority of healthcare professionals reported that there is a specialist centre available for the majority of their patients with rare conditions (n = 122, 60%). However, specialist centres were not available for all patients, with 30% (n = 61) of healthcare professionals reporting that their patients did not have access to one.

Healthcare professionals reported that a range of professionals are seen at the specialist centre, including: doctors who are experts in rare/undiagnosed conditions (n = 94, 64%), specialist nurses (n = 98, 67%) doctors who are experts in specific aspects of their health (n = 94, 64%), psychologists (n = 67, 46%), dietitian (n = 66, 45%) and physiotherapists (n = 65, 44%). Healthcare professionals reported a range of services being delivered at specialist centres, including appointments with rare condition experts (n = 92, 63%), access to research opportunities (n = 92, 63%), and diagnostic and screening procedures (n = 89, 61%).

The most frequently reported reasons given by healthcare professionals for patients not using specialist centres included the distance (n = 179, 71%), cost (n = 166, 66%) and physical difficulties (n = 159, 63%) associated with travelling to specialist centres. See Table 6 for more information.

Care plans

More healthcare professionals reported that they do not use care plans to document care for patients with rare conditions (n = 105, 51%), than those who do use care plans (n = 82, 40%).

Of those who reported using a care plan (n = 81), healthcare professionals most frequently reported that responsibility was: a shared responsibility between professionals (n = 20, 25%), the responsibility of a specialist nurse (n = 17, 21%), or other (n = 14, 17%).

Healthcare professionals felt that the three most useful items were: a plan of care for emergency or acute episodes (n = 161, 64%), general information and a medical summary (n = 155, 62%), and an assessment of current health needs (n = 149, 59%). See Table 6 for more information.