A. Quantitative survey findings
In total 1,926 individuals responded to the survey (1,355 patients, 571 carers). After excluding participants who did not live in the UK, did not provide consent, or did not have a rare condition, the total number of eligible respondents was 1,885 (1,231 patients, 564 carers). Completion rate was 69% for patients (913/1,231) and 60% for carers (340/564). Sample characteristics are reported in the ‘methods’ section of this paper.
In this paper the term ‘carer’ is used to represent parents and other non-professional carers of individuals with rare conditions.
1. The nature of the emotional impact
i. Feelings and emotions
Respondents were given a list of thoughts and feelings and asked to rate their overall experience against each in terms of their experience of living with, or caring for someone with, a rare condition. Figure 2 illustrates the range of negative emotions that respondents reported. Almost all indicated that, as a result of the rare condition, they had felt (some of the time/often/all of the time): worried or anxious (95%, 1,604/1,688), stressed (93%, 1,578/1,689), emotional (92%, 1,556/1,685), low or depressed (90%, 1,509/1,683), angry or frustrated (90%, 1,514/1,690), emotionally exhausted (88%, 1,485/1,686), or alone (83%, 1,403/1,684). A large proportion of respondents reported they had experienced a sense of loss or grief (74%, 1,246//1,682), feeling at breaking point (70%, 1,183/1,686), and a sense of guilt (64%, 1,078/1,684). Thirty-six percent of patients (434/1,194) and 19% of carers (92/496) had experienced thoughts about suicide (figure 3).
Respondents had also experienced positive thoughts and feelings although this was less marked than for the negative feelings. The majority of respondents reported that, in relation to the rare condition, they had (some of the time/often/all of the time): been able to make up their mind (86%, 1,455/1,690), had been thinking clearly (77%, 1,290/1,683), had been dealing with problems well (77%, 1,291/1,688). More than half of survey respondents reported feeling useful (62%, 1,048/1,679), close to others (60%, 1,012/1,684) and optimistic about the future (59%, 996/1,687). Fewer than half of respondents (44%, 747/1,685) reported feeling relaxed; the percentage was lower for carers (34%, 170/498) than for patients (49%, 577/1,187).
ii) Times that have had a negative impact on emotional health and wellbeing
As shown in figure 4, the majority of survey respondents reported (agree/strongly agree) that the following periods of time had negatively impacted mental health: onset of symptoms (84%, 1290/1530), trying to get a diagnosis (83%, 1235/1490), when a diagnosis was given (70%, 991/1418), coming to terms with the condition or diagnosis (83%, 1247/1506), the day-to-day challenges of living with the condition (88%, 1367/1559), and thinking ahead to the future (82%, 1272/1558). The full data are given in supplementary file 3.
iii) Knock-on impact of poor mental health
Respondents indicated that poor mental health had negatively impacted other aspects of life (agree/strongly agree) (see supplementary file 4). This included a knock-on impact on physical health (87%, 1,242/1,420), on work or studies (81%, 995/1222); and on personal relationships with partners (76%, 984/1,292), friends (71%, 999/1,414), and relatives (69%, 979/1,411).
2. Factors affecting mental health
The factors explored in relation to respondents’ mental health can be grouped into three categories: i) interactions with healthcare professionals and services, ii) everyday living with a rare condition, and iii) additional factors for carers.
i) Interactions with healthcare professionals and services
Respondents reported that interactions with individual healthcare professionals had negatively impacted mental health (figure 5 panel A, and supplementary file 5). Many of these factors related to the rarity of the condition. For example, the most frequently identified factor (agree/strongly agree) was lack of awareness or understanding of the condition amongst healthcare professionals (88%, 1,308/1,486), followed by not being believed or taken seriously by healthcare professionals when reporting symptoms (80%, 1,158/1,444), and being treated as a medical curiosity (50%, 714/1,433). Additionally, 80% of respondents (1,195/1,487) reported that conversations and interactions with individual healthcare professionals had directly and negatively impacted mental health.
Factors relating to service access and coordination were also reported to negatively impact mental health (figure 5 panel B, and supplementary file 5). This included (agree/strongly agree): trying to access health services or treatments (80%, 1,183/1,487), the way care is coordinated or organised between different departments or services (79%, 1,161/1,469), accessing financial support such as disability living allowance (76%, 951/1,254), and accessing other support such as social care or respite care (72%, 945/1,319).
ii) Everyday living with a rare condition
Factors that are specific to everyday living with a rare condition were also reported to have impacted respondents’ mental health (agree/strongly agree). This included lack of understanding about the condition amongst the public (90%, 1,313/1,458), feeling uncertain about what the future holds (87%, 1,279/1,469), having to explain the condition to other people (81%, 1,191/1,472), and lack of available information about the condition (76%, 1,096/1,448). Over half of respondents (56%, 792/1,411) identified worrying information they had come across online as a factor affecting mental health. See supplementary file 6 for full data.
For context we asked respondents about other stressors in their lives (see supplementary file 7). A large majority of respondents reported (agree/strongly agree) that major life events (86%, 1,196/1,389), financial pressures and worries (80%, 1,059/1,327) and feeling socially isolated (76%, 1,076/1,412) had impacted mental health.
iii) Additional factors for carers
The survey captured additional factors that had affected the carers’ psychological wellbeing. Almost all carers reported that worrying about their child’s quality of life (97%, 370/383), and/or worrying about their child’s emotional wellbeing (96%, 365/381) had affected their own mental health (agree/strongly agree). See supplementary file 8 for full data.
3. Evaluation of care
The survey explored respondents’ experiences of services and how well they felt their emotional and mental health needs had been met.
i) Services, parity of esteem and information
Figure 6 panel A shows that, when rating the care and treatment they have received, 62% of respondents (852/1,382) reported that they were satisfied (fairly satisfied/satisfied/very satisfied) with services to meet their physical health needs. In contrast, only 39% (532/1,357) were satisfied with services to meet their mental health needs. In response to the statement “I feel my/my child’s mental health is considered equally as important as my/my child’s physical health by healthcare professionals involved in my/my child’s care,” the majority of respondents (60%, 814/1,349) chose ‘disagree’ or ‘strongly disagree’. A minority of respondents chose ‘agree’ or ‘strongly agree’ (23%, 316/1,349) (figure 7 panel B).
In addition, approximately half of respondents were satisfied (fairly satisfied/satisfied/very satisfied) with the information they were provided about the physical condition (48%, 653/1,367), while fewer respondents (30%, 411/1,366) were satisfied with the information provided about sources of emotional support (supplementary file 9).
ii) Healthcare professionals asking about mental health
Respondents were presented with the statement “healthcare professionals ask about my/my child’s mental and emotional wellbeing’. Almost half of patients (46%, 454/988) and carers (48%, 173/362) chose ‘never’, and just 8% of patients (81/988) and carers (28/362) chose ‘often’ or ‘always’.
In a separate question for carers only, 57% (208/363) reported they had ‘never’ been asked about their own mental health by healthcare professionals involved in their child’s care. Full data are given in supplementary file 10.
A proportion of respondents reported (agree/strongly agree) having had positive experiences when healthcare professionals had discussed mental health and wellbeing with them (figure 7): some reported that the discussions were handled sensitively (35%, 377/1,068), that they felt genuine (34%, 369/1,086) and that they had a positive impact on emotional wellbeing (24%, 252/1,066).
Conversely respondents also reported (agree/strongly agree) having had negative experiences when discussing mental health and wellbeing with healthcare professionals (figure 8), including that the discussions made them feel anxious (44%, 468/1061); uncomfortable (36%, 386/1060) or made them feel worse (34%, 356/1059).
For full data see supplementary file 11.
iii) How to improve care to better support wellbeing and mental health
Our findings, given in full in supplementary file 12, show that a large majority of respondents felt that the following would improve their mental health (agree/strongly agree): greater awareness of the emotional challenges of living with a rare condition amongst healthcare professionals (91%, 1,184/1,308), greater sensitivity amongst healthcare professionals (85%, 1,090/1,284), and being asked more frequently about mental health and wellbeing by healthcare professionals (81%, 1,056/1,296).
Respondents also reported that easier access to emotional support would improve their mental health; the majority felt (agree/strongly agree) that easier access to professional psychological support (85%, 1,069/1,262) and better signposting to alternative sources of emotional support (86%, 1,105/1,283), would benefit their mental health.
4. Experiences of professional psychological support
i) Access and barriers to professional psychological support services
Just over half (54%,719/1323) of respondents had not accessed any professional psychological support. Of those who had accessed professional psychological support, just 7% had accessed it through a specialist clinic for their condition (41/588) and only 2% of respondents (14/588) had been offered professional psychological support at the time of diagnosis of the rare condition. More respondents had been referred by their GP (48%, 280/588) or clinicians at their hospital (21%, 123/588). A proportion of respondents (18%, 106/588) had accessed private psychological support (i.e. ‘arranged and paid for it myself’). Of these respondents, over half (55%, 58/105) had paid more than £500 in total and approximately one quarter (26%, 27/105) had paid between £100 and £500.
Respondents identified several factors that had prevented them from accessing professional psychological support (full data are given in supplementary file 13). The most commonly reported factor was that it had not been suggested by healthcare professionals involved in their care (41%, 527/1,285), followed by not being able to afford private psychological support (29%, 372/1,285) and that the waiting lists for mental health services were too long (23%, 299/1,285). Carers in particular cited too much pressure on their time as being a barrier (22%, 77/350).
ii) Evaluation of professional psychological support
Respondents who indicated that they had accessed professional psychological support were asked to evaluate the support received (figure 8). Around half of these respondents (49%, 282/570) had found it was helpful (agree/strongly agree), but fewer (37%, 209/571) felt it was tailored to their needs (agree/strongly agree).
When asked about ease of access, over half of respondents (56%, 319/571) reported (agree/strongly agree) they did not have to travel far to access the support. A smaller proportion felt that the support was available when needed (31%, 179/578) or had been easy to access (27%, 155/580). Fewer than half (34%) were confident they would be able to access professional psychological support again if they needed it (198/580) (agree/strongly agree).
5. Support from other sources
Fifty-nine percent of respondents (759/1,292) reported they had accessed additional emotional support such as peer support online (81%, 617/759) or face-to-face (36%, 274/759) and support from charities or the community sector (25%, 192/759).
The majority of respondents (75%, 534/713) who had accessed such support reported having found it themselves. A minority had been signposted to the support by a healthcare professional (18%, 125/713). and the most frequent reason for not accessing such support was not knowing how to access it (41%, 210/516). Eighteen percent of respondents believed there was no such support available to them (92/516). See supplementary file 14 for full data.
The vast majority of respondents indicated (agree/strongly agree) that such sources of support were helpful for a variety of reasons (figure 9).
Over half of respondents (67%, 862/1,282) reported that their family ‘really tries to help them’ (agree/strongly agree) but fewer felt that they get the emotional support they need from their family (48%, 612/1,281). Similarly, a proportion of respondents (47%, 588/1,256) reported that their friends really try to help them (agree/strongly agree) but fewer felt that they get the emotional support they need from friends (37%, 462/1,257).
- Multi-stakeholder workshop recommendations
The survey findings, and recommendations for changes to policy and practice drafted by the authors, were discussed at a multi-stakeholder workshop. The recommendations were subsequently refined as follows:
Recommendations for the empowerment of healthcare professionals:
- Healthcare professionals should be provided with the skills, knowledge and capacity to:
- demonstrate awareness of the challenges of living with a rare disease,
- handle discussions about mental health sensitively.
- Healthcare professionals should routinely signpost patients and carers to sources of support.
Recommendation for service-level coordination:
- Coordinated rare disease services should include assessment of mental health needs and access to mental health services. This should be extended to carers.