Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients (2024)

Korte, E. W. H., Baardman, R., Pool, G., Duipmans, J. C., van den Akker, P. C. (2024). Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients. The British journal of dermatology, Artikel ljae242. Online publicatie vooraf. https://doi.org/10.1093/bjd/ljae242

Korte, Eva W H ; Baardman, Rosalie ; Pool, Grieteke et al. / Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients. In: The British journal of dermatology. 2024.

@article{c709fd14fd484058920ac14e2906b432,

title = "Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients",

abstract = "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.",

author = "Korte, {Eva W H} and Rosalie Baardman and Grieteke Pool and Duipmans, {Josephina C} and {van den Akker}, {Peter C} and Bolling, {Maria C}",

note = "{\textcopyright} The Author(s) 2024. Published by Oxford University Press on behalf of British Association of Dermatologists.",

year = "2024",

month = jun,

day = "11",

doi = "10.1093/bjd/ljae242",

language = "English",

journal = "The British journal of dermatology",

issn = "0007-0963",

publisher = "Wiley",

}

Korte, EWH, Baardman, R, Pool, G, Duipmans, JC, van den Akker, PC 2024, 'Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients', The British journal of dermatology. https://doi.org/10.1093/bjd/ljae242

Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients. / Korte, Eva W H; Baardman, Rosalie; Pool, Grieteke et al.
In: The British journal of dermatology, 11.06.2024.

Onderzoeksoutput › Academic › peer review

TY - JOUR

T1 - Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients

AU - Korte, Eva W H

AU - Baardman, Rosalie

AU - Pool, Grieteke

AU - Duipmans, Josephina C

AU - van den Akker, Peter C

AU - Bolling, Maria C

N1 - © The Author(s) 2024. Published by Oxford University Press on behalf of British Association of Dermatologists.

PY - 2024/6/11

Y1 - 2024/6/11

N2 - 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.

AB - 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.

U2 - 10.1093/bjd/ljae242

DO - 10.1093/bjd/ljae242

M3 - Article

C2 - 38860499

SN - 0007-0963

JO - The British journal of dermatology

JF - The British journal of dermatology

M1 - ljae242

ER -

Korte EWH, Baardman R, Pool G, Duipmans JC, van den Akker PC, Bolling MC. Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients. The British journal of dermatology. 2024 jun. 11;ljae242. Epub 2024 jun. 11. doi: 10.1093/bjd/ljae242