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.
Epidermolysis bullosa (or ‘EB’ for short) is a group of rare genetic diseases that cause the skin to be very fragile, leading to lifelong blistering and wounds. In the Netherlands, EB affects about 22 in 1 million people. It can have a huge impact on patients and their families. Although the process of diagnosing the disease is improving, we do not know how people living with EB feel about the diagnostic trajectory. This study was done in the Netherlands. To understand their experience, we interviewed 26 adults with EB and parents of children with EB. We found that getting a diagnosis of EB and living with the disease can be challenging. Each participant had different needs, largely depending on the subtype of EB they had. Parents (especially those with children with extensive EB) needed a quick and accurate diagnosis to help them understand what to expect and how to best provide care. Participants pointed out shortcomings in daily practice, such as labelling EB and assuming how serious the disease is. This affected how parents and patients understood EB, how they sought healthcare, whether they took part in research studies and how they connected with their peers. Our findings could help improve the diagnosis and care of people living with EB and their families. Our study highlights the urgent need for a faster diagnosis of EB and to increase public awareness of the disease. Clinicians should concentrate on clear and supportive communication and avoid subjective severity labelling of the disease.
© The Author(s) 2024. Published by Oxford University Press on behalf of British Association of Dermatologists.