Making the Unseen Seen: rare disease and the lessons learned from the COVID-19 pandemic
At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates came together to take Action for Rare Disease Empowerment. The aim was to shed light on the unseen impact of the pandemic on people living with rare conditions in order to protect their existing services and for lessons to be learned.
Following cross-sector stakeholder discussion, three priority themes were identified under which evidence would be collated. These have subsequently been included as three of the four priorities highlighted by the UK Rare Diseases Framework.
Priority 1: helping patients get a final diagnosis faster
Priority 2: coordination of care
Priority 3: improved access to specialist care, treatment and drugs.
Information was gathered by a review of the published literature, grey literature review (including government documents, patient advocacy and public health documents) and interviews with key stakeholders, including patients, healthcare professionals, researchers, industry and advocacy groups. Although the focus of this review was the UK, the information search was not restricted to the UK.
This report reveals the impact of the pandemic on every stage of the patient journey, from diagnosis to eventual management. It catalogues the re-assignment of specialists away from rare disease, the fear of infection, the closure of clinics, the fracture of coordination of health and social care, and the delay or termination of clinical studies.