RESUMO
BACKGROUND: Epidermolysis bullosa (EB) concerns a heterogeneous group of rare genetic skin fragility disorders that result in chronic blistering and wounding. EB significantly impacts the daily lives of patients with EB, as well as their families. While advances in diagnostics are improving the speed and accuracy of EB diagnosis, little is known about the experiences and needs of parents and patients throughout their diagnostic journey. OBJECTIVES: In this qualitative study, we explore the parent and patient perspective on the EB diagnostic trajectory to gain an in-depth understanding of their lived experiences and needs. METHODS: Participants were parents of paediatric patients (n=18), and adult patients (n=8) recruited from the Dutch EB Registry. After purposive sampling, they participated in semi-structured interviews via video-calls to discuss their personal diagnostic trajectory and the subsequent impact of EB diagnosis on their (family) life. Applying a constructivist approach, a reflexive thematic analysis was executed to facilitate a dynamic and iterative process, involving inductive open coding of transcripts and constant comparison of data. RESULTS: Ten major themes were developed, representing three distinct groups: (i) parents of children with JEB and RDEB, (ii) parents of children with EBS and DDEB, and (iii) adult patients with localized EB. The EB diagnostic process appeared to have a diversity of emotional consequences, varying from desperation and uncertainty about the future, to clarification and confirmation. The urgent need for a timely diagnosis and accurate prognosis was emphasized, particularly by parents of children with extensive presentation. Both parents and patients expressed shortcomings in clinical practice, with severity ratings in current EB disease terminology in particular seeming to have an adverse impact on illness perception, healthcare-seeking behaviour, research participation, and engagement in peer support. CONCLUSIONS: This study describes the lived experience and needs of parents of children and adult patients during the diagnostic process of EB. We show an urgent need to accelerate diagnostics and imply that the EB community should continue working towards ever faster diagnosis, public awareness, and education. While guiding patients along the diagnostic journey, clinicians should focus their support strategies on tailored medical communication, while refraining from value-connoted wording.