An interpretative phenomenological analysis of the experiences of caregivers of children diagnosed with CLN3 Batten Disease: The diagnostic odyssey and adjustment to the new normal

Authors

• MC Fisher
• PM Cooper
• NG Colombo
• ES Rubovits
• LM Koehly

Abstract

Background: Batten disease is a rare group of genetic neurodegenerative diseases that develop during childhood. The symptoms include progressive vision loss that will ultimately result in blindness, seizures, cognitive decline, and a shortened life span. Due to symptom onset beginning in childhood there is a significant impact on parent caregivers throughout the diagnostic odyssey and adjustment after diagnosis that have yet to be explored qualitatively. The current study explores the meaning attached to the caregiving experience of those caring for children with CLN3, a form of Batten disease that is terminal, with a focus on the diagnostic odyssey and adjustment to life after diagnosis.

Methods: We used Interpretative Phenomenological Analysis to analyze 13 semi-structured interviews with caregivers of children diagnosed with CLN3.

Results: Our analysis yielded five themes that illustrate the different phases that precede and follow the diagnostic odyssey: Initial Disease Presentation, Misdiagnosis, Diagnosis, Response to Diagnosis, and New Normal; Impact on Family Dynamics was identified as a sixth theme that is present in each phase. Subthemes further define and expand on each theme.

Conclusion: Findings illustrate the long and challenging diagnostic odyssey of a CLN3 Batten disease diagnosis and the significant emotional impact the diagnosis has on the caregiver and their family. Future research interventions should focus on providing resources to caregivers of undiagnosed disease as they endure the diagnostic odyssey and transition to life with a child with a rare terminal disease.

Scientific Focus Area: Social and Behavioral Sciences

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