Consequences of a pandemic for people living with rare diseases and recommendations for maintaining healthcare and participation

Background. Rare diseases are often characterized by complex symptoms and usually require coordination of multiprofessional treatment during the diagnostic and healthcare processes. In the wake of the COVID-19 pandemic, the healthcare situation and daily life of people with rare diseases and the caregivers of children with rare diseases changed drastically. The aim of the research project RESILIENT-SE-PAN was to assess the situation of people with rare diseases and caregivers during COVID-19 and to develop recommendations based on the findings.Methods. We conducted a mixed methods study including the perspective of people with rare diseases, caregivers and representatives from patient organizations and conducted a concluding workshop.Results. The findings indicate an impact on healthcare and daily life of participants. Moreover, mental burden, supportive needs, COVID-19-specific aspects but also positive aspects were mentioned. Based on the findings from our mixed methods study, we developed 21 recommendations referring to the following topics: medical diagnostics and healthcare of the rare diseases, additional therapies and aids, access to COVID-19 information and vaccination, psychosocial support, participation and activities, patient organisations and others.Discussion. The recommendations can provide an orientation for the organisation of healthcare in future crises or pandemics in order to adequately take the situations of people with rare diseases into account and consider the needs of this patient group.