From this mixed methods study embedded in a national cohort, we report that families of children newly diagnosed with a potentially disabling chronic inflammatory eye disease during a time of considerable disruption maintained confidence in the UK National Health Service. They expressed a low level of discomfort in using those services despite concerns around the wider impact of the pandemic. Families’ accounts of their experiences included positive experiences of protected spaces and informed clinicians and digital health tool implementation. However, there were negative perceptions around the impact of telemedicine immaturity on care services alongside perceived or actual failures in the co-ordination of care. The fear of the unknown was expressed by many, with the uncertainty of the rare disease journey ahead compounded by the uncertainties brought by the pandemic.
Our study is strengthened by the use of a nested approach which took advantage of an already underway inception cohort study. The study provided a contemporaneous insight into perceptions and experiences for UK patients and families embarking on a journey of multi-system, multi-level care for a rare disease. Study limitations include a small sample size and the likelihood of some elements of response bias. Families who are particularly vulnerable to negative experiences of health care service, specifically those from socioeconomically deprived or non-White backgrounds,16,17 are under-represented within the respondent sample compared to the overall UK population. There was an overall decline in population mental health during the pandemic,18 attributed to the distinctive circumstances of societal lockdown related isolation, acute and acute-on-chronic financial strain, concerns around chronic health conditions 19, and changes in household dynamics.20 This decline disproportionately affected people from a lower socioeconomic background.18 The experience and perceptions of these families may be less positive, and grounded in different domains, with different lessons which need to be learned in order to develop equitable health care service provision during disruptive times. The sociodemographic health care access and provision inequities starkly highlighted by the pandemic21,22 may have resulted in inequitable experiences of health services during the pandemic, which may not be captured by our survey findings because of the under-representation of families from more vulnerable socioeconomic strata. Another key limitation was the absence of direct exploration of the determinants of family or care-giver mental health and well-being or their pandemic experiences through in-depth interviews. Whilst the population for this study were affected by eye disease, families did not report specific themes around the additional impact of visual impairment on pandemic experiences. The study is therefore unable to explore the intersectional impact of accessibility concerns on the experiences of health care use. Additionally, the study used a survey tool which has not yet been validated for use in those aged under 18 years, with data from young people and parents/carers considered in combination.15 Future work may benefit from the collection of data only from children themselves, to gain a stronger sense of their perspective. Despite these limitations, the findings from our unique cohort show the value of our pragmatic approach. Using free text responses to add nuance to survey collected data, this study has generated useful evidence, informed by the experiences of families with rare disease, for service redevelopment.
The adoption of face masks, protective personal equipment (PPE) and social distancing across hospital services was recognised and welcomed by families. Our findings on the feelings of safety expressed by families attending hospital appointments may offer vulnerable patients reassurance and encourage attendance during future pandemics. Whilst the adoption of digital interventions during the pandemic was perceived as supporting some aspects of care, with health tools allowing families to share media or request actions or information directly from care providers, other aspects of care were not well served. Platforms used to organise and deliver telephone-based consultations, and the absence of video-based consultations to replace face to face appointments were perceived poorly by families seeking primary health care services for their child. The additional information conveyed through visual communication may be necessary to facilitate understanding for discussions around complex or rare disorders. Although the provision of remote primary care consultations has found some favour with the UK public,23 our findings suggest that pathways enabling synchronous and asynchronous conveyance of visual information (eg, physical appearance or behaviours) should be prioritised for families seeking care for rare or complex conditions. Additionally, the burden of rare disease often disproportionately falls on those families from socioeconomically and educationally disadvantaged backgrounds, those with limited or no access to the internet, or whose first language is not English.2425–27 Although quaternary care for patients with rare diseases is delivered in specialized centres, the need to devolve safely and effectively certain aspects of such multidisciplinary care to local providers such as general practitioners or community pharmacists remains.
Our findings also suggest that primary and secondary care teams require additional support in delivering and co-ordinating care for those with rare disease. Managing the fear of the “unknown” will necessitate sharing clinical experience and promoting further research. Answers emerging through these processes will need to be appropriately communicated to patients and their families in order to best support patients and avoid science misinformation and disbelief. While further maturation of information and communication technologies is probably a matter of time, the responses of patients and their caregivers in our cohort emphasizes the core need to ensure optimal communication among healthcare providers. For this reason, it will be important to devise specific patient educational activities through the coordinated involvement of healthcare professionals and dedicated patient groups. A key example from this cohort is the messaging around the protection of children on immunosuppressive agents. Early in the course of the COVID-19 pandemic, concerns around the risk SARS-COV-2 posed to immunocompromised individuals led to advice on ‘shielding’ those individuals from contact with others to avoid viral transmission. Later on, evidence emerged on the reduced risk of adverse outcomes following COVID-19 infection for children, even those on immunosuppressive therapies.28 29,3031. While dissemination of this information amongst specialists prescribing immunosuppression to children was timely, this may not have been the case for primary care providers, with general practitioners, pharmacists and patients appearing to give and receive conflicting advice. One approach to address this challenge will be empowering parents/carers to use their expertise to as advocates for the care of the child, and for health professionals to recognise that parents are ‘experts’ in many aspects of their child’s care.
The need to restructure clinical pathways in response to the pandemic created opportunities to test the feasibility of novel approaches in healthcare provision. These approaches could help increase throughput while dealing with clinical backlog in the aftermath of the pandemic, and serve as a template for dealing with future public health emergencies, with particular reference to the integration of primary and specialised care services. The exceptional circumstances of the pandemic have brought into stark relief the elements of healthcare which require uninterrupted service, and it is the apparently ‘outlying’ populations which may carry exemplars of best practice, or barriers to achieving good health outcomes. Our findings from this rare disease cohort suggest that these patients should have prioritised access to visual based communication with care providers, and that sources of information should be clearly signposted to patients and community care providers. Additionally, families need to be empowered to be advocates for their child’s care e.g., through the use of parent information strategies.32 These suggestions should inform and support the ongoing post-pandemic redevelopment of care.