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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
The Impact on Parents of Diagnosing PCD in Young Children
Corine Driessens1,2,3, Siobhan Carr4, Edel Clough5
1University of Southampton Faculty of Medicine, School of Clinical and Experimental Sciences, Southampton SO17 1BJ, UK.
Insights
Caring for children with Primary Ciliary Dyskinesia (PCD) significantly impacts parents, affecting daily life and future outlook. Understanding these challenges is crucial for providing better support and integrated social care for families.
Area of Science:
- Pediatrics
- Genetics
- Psychology
Background:
- Primary ciliary dyskinesia (PCD) is a rare, inherited, chronic condition requiring lifelong management.
- Current treatments focus on airway clearance, infection control, and hearing loss management.
- The impact of PCD on parents, particularly caregivers of young children, remains under-explored.
Purpose of the Study:
- To investigate the experiences of parents of children under six diagnosed with PCD.
- To understand the impact of diagnostic processes and a positive PCD diagnosis on parents.
- To identify parental coping strategies and future concerns related to PCD management.
Main Methods:
- Qualitative study involving semi-structured interviews with 18 mothers and 6 fathers of children with PCD under six.
- Thematic analysis of transcribed interviews to identify key themes.
- Exploration of parental experiences, treatment burden, health status impact, coping mechanisms, and future concerns.
Main Results:
- Parents described lengthy diagnostic journeys often due to clinician unawareness of PCD symptoms.
- Key themes included parents' adjustment to diagnosis, the burden of treatment regimens, and the impact of the child's health status.
- Parents employed various lifestyle adjustments and coping strategies, including during the COVID-19 pandemic.
Conclusions:
- PCD diagnosis and management present significant emotional and practical challenges for parents.
- There is a need for enhanced clinician awareness regarding PCD symptom patterns to expedite diagnosis.
- Integrated social care support is essential for families navigating the complexities of PCD.
Abstract:
Primary ciliary dyskinesia (PCD) is an incurable, rare, inherited, chronic condition. Treatment includes the regular clearing of airway mucus, aggressive treatment of infections and management of hearing loss. Caregiver burden has not been explored, hence we interviewed 18 mothers and 6 fathers of children under 6 years to understand the impact of diagnostic testing and implications of a positive diagnosis. Interviews were transcribed and thematically analysed and five key themes were identified. These included the parents' experiences following child's diagnosis, impact of child's treatment regimen on parent, impact of child's health status on parent, parent's coping strategies, and parental concerns for the future. Parents described their diagnostic journey, with the findings revealing how a lack of awareness among clinicians of the PCD symptom pattern can lead to a delayed diagnosis. Parents discussed the emotional and practical impact of a PCD diagnosis and the coping strategies employed to deal with challenges arising following a diagnosis. Parents use a variety of different lifestyle changes to accommodate their child's treatment regimen and to cope with disruptive life events such as the COVID-19 pandemic. This study provides valuable insights into parental adjustment and adaptation to a PCD diagnosis and management regimen. Going forward, this research highlights the need for integrated social care for PCD patients and their families.
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