J Pediatr Surg
. 2025 Aug 11:162540.
doi: 10.1016/j.jpedsurg.2025.162540. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/40803407/
Untold stories: A qualitative investigation of patient and family experiences with congenital diaphragmatic hernia
Alexandra Dimmer 1, Zanib Nafees 1, Sabrina Beauseigle 2, Franco A Carnevale 3, Elena Guadagno 2, Dan Poenaru 2, Pramod Puligandla 4
Affiliations Expand
- PMID: 40803407
- DOI: 10.1016/j.jpedsurg.2025.162540
Free article
Abstract
Background: Patient and family perspectives on CDH are infrequently explored, impairing clinicians’ understanding of illness impact on functioning and desired support. We investigated the lived experiences of CDH patients and primary caregivers, including those with neurodevelopmental impairment (NDI), regarding the adequacy of clinical and community support.
Methods: Cross-sectional qualitative study convening focus groups (FGs) to explore CDH patient experiences within our CDH follow-up clinic. Participants >4 years were recruited between December 2023 – March 2024. FGs were grouped by language preference, presence of NDI, and clinic graduate status. Virtual FG sessions were assessed using inductive thematic analyses.
Results: Twenty-six participants (10 CDH children/12 caregivers/4 clinic graduates) participated among 4 FGs. Thematic analysis revealed 4 themes: experiencing CDH as a caregiver; experiencing CDH as a child; striving for normalcy; and getting the support we need. Caregivers reported shock at CDH diagnosis and during initial hospitalization. Caregiver isolation/distress were common, particularly when physically separated from their newborn. Memories faded with time with parents revealing few long-term effects on their children. While most reported minimal impact, some CDH patients struggled with visible CDH indicators (e.g. scars). Patients expressed a high quality of life despite NDI or co-morbidities. Caregivers were satisfied with clinical support and easy contact but desired interaction with other CDH families for emotional/psychological support.
Conclusion: This first study on CDH lived experiences revealed high quality of life, despite early challenges. Caregivers valued the CDH clinic for easy access to expert care but desired contact with other CDH families for emotional support.
Level of evidence: Level II (prospectively collected data, retrospective analysis).
Keywords: congenital diaphragmatic hernia; neurodevelopmental impairment; patient reported experiences; qualitative research.
Copyright © 2025 The Author(s). Published by Elsevier Inc. All rights reserved.
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