Supporting positive patient experiences for rare disease care during disruptive times: findings from a national study
Creators: name: Kellett, Salomey
name: Tadic, Valerija
name: Petrushkin, Harry
name: Ashworth, Jane
name: Connor, Alan
name: McLoone, Eibhlin
name: Sharma, Srilakshmi
name: Agorogiannis, Eleftherios
name: Watts, Patrick
name: Hughes, Edward
name: Ritchie, Ailsa
name: Pilling, Rachel
name: Benzimra, James
name: Marsh, Catherine
name: Pharoah, Daniel
name: Choi, Jessy
name: Dick, Andrew D
name: Rahi, Jugnoo S
name: Solebo, Ameenat L
Publisher: name: Taylor & Francis
Year: 2024
Subjects: subject: Medicine
subject: Sociology
subject: FOS: Sociology
subject: Biological Sciences not elsewhere classified
subject: Science Policy
subject: Mental Health

description: <b>Aim:</b> We describe the perceptions and experiences of healthcare services during the pandemic of those newly diagnosed with a rare, chronic eye disorder. <b>Methods:</b> A cross-sectional mixed-methods study nested within a multi-center inception cohort study. Participants were UK families and adolescents newly affected by childhood uveitis. Using a validated tool (Health Foundation COVID-19 Survey), we captured quantitative (analyzed using descriptive statistics) and qualitative (analyzed using content and thematic analysis) data. <b>Results:</b> Responses received from 60 families (September 2020–March 2022), of whom 92% felt comfortable accessing healthcare services, despite 40% reporting challenges in accessing medication. Thematic analysis identified five themes: the value of protected spaces; the positive role of digital health tools, negative experience of immature telemedicine, disintegration of care; and dealing with uncertainty. <b>Conclusion:</b> Our findings will support ongoing developments in care with an aim to making services more robust to future periods of disruption. In this study, we explored how families with children newly diagnosed with a rare eye disorder and affected adolescents experienced UK healthcare services during the COVID-19 pandemic. We collected information from 60 families between September 2020 and March 2022 using a survey tool. Despite some challenges in getting medications, most families felt comfortable accessing healthcare services. Interestingly, our findings suggest that these families had more confidence in accessing healthcare during the pandemic compared with the general population. We identified five main themes from responses: the importance of safe spaces for care, the positive role of digital health tools, the negative experience of telemedicine when it wasn't the right tool for what was needed, the breakdown of care coordination and how families dealt with uncertainty. While families with children facing rare health conditions seemed to navigate healthcare well during the pandemic, improvements in telemedicine and overall healthcare processes are essential. Learning from the experiences of those with rare diseases can help create better healthcare services for these populations in times of disruption. It is crucial to ensure that the entire healthcare team has the necessary information to support these families effectively. When the going gets tough, rare gets left out…but findings from a childhood eye disease study could improve how we care for rare disease in times of national and global disruption. Overall, despite challenges, families of children with rare disorders generally felt comfortable accessing healthcare services, with both positive and negative experiences highlighting areas for improvement in healthcare delivery. A higher proportion of them faced challenges in accessing medication for their childhood onset rare disease compared with the general public. Families were grateful for safety measures in hospital-based clinical areas, and the consistent adoption of precautions provided a sense of protection. Benefits of telemedicine and digital health tools included synchronous and asynchronous care and the ability to share patient-generated image data. Issues around telemedicine included over-reliance on voice telephone contact, difficulties with navigating complicated systems and fragmentation of care. The ‘Unknown’ was a key driver of negative experiences, specifically uncertainties about the direct risk of COVID-19, the impact of immunosuppression and the future of their child's health journey. Our findings emphasize the need for mature telemedicine systems informed by patient experience. We call for improvements in care coordination to avoid discrepancies in information. We stress the importance of addressing uncertainties to provide better support for families dealing with rare diseases.