Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients

Abstract

Abstract Background Epidermolysis bullosa (EB) concerns a heterogeneous group of rare genetic skin fragility disorders that result in chronic blistering and wounding. EB significantly affects the daily lives of patients, 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 To explore parent and patient perspectives on the EB diagnostic trajectory to gain an in-depth understanding of their lived experiences and needs. Methods Participants were parents of paediatric patients with EB (n = 18) and adult patients with EB (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 an EB diagnosis on their (family) life. By 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 junctional EB and recessive dystrophic EB; (ii) parents of children with EB simplex and dominant dystrophic EB; 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 an extensive presentation. 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 with EB and adult patients with EB during the diagnostic process. We found a pressing need to accelerate diagnostics and urge that the EB community should continue working toward 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.