[Diagnostic delay in rare diseases: between fear and resilience]

Abstract

Objective: To describe the impact of diagnosis delay in rare diseases and analyze psychosocial needs related to this delay in patients.

Method: The qualitative approach has been used by conducting online group interviews with patients and family members in the Valencian Region (Spain) and a content analysis has been carried out. Two categories were differentiated: with diagnostic delay of 1 year or more and without diagnostic delay. Five interviews were conducted with a total of 25 participants.

Results: The content analysis showed unequal aspects vs. common aspects, in persons with or without diagnostic delay. People with delay expressed the need to feel supported in order to live with continuous uncertainty. People without delay verbalized the importance of adequate communication between patients and professionals. The problems by the COVID-19 were common in both groups; the participants expressed that they did not feel unattended in their disease by the health services.

Conclusions: High resilience and coping capacity has been identified in people with rare disease, regardless of whether they have suffered diagnostic delay or not. The professional psychosocial support during the diagnostic process of these rare diseases is essential.

Keywords: COVID-19; Delayed diagnosis; Enfermedades raras; Investigación cualitativa; Online systems; Qualitative research; Rare diseases; Resilience; Resiliencia; Retraso diagnóstico; Sistemas en línea.