Experiences of parents whose young child has been diagnosed with
primary ciliary dyskinesia
by
Corine Driessens1,2,3
Siobhan Carr5
Edel Clough8
Fiona Copeland8
Sharon Dell6
Lucy Dixon8
Amanda Harris1,3
Rebecca Knibb4
Margaret Leigh9
Manjith Narayanan11
Beatrice Redfern8
Evie Robson10
Michael Sawras7
Lynne Schofield10
Kelli Sullivan12
Myra Tipping8
Nhu Tran8
Woolf Walker3
Jane S. Lucas1,3 ORCID ID: 0000-0001-8701-9975
Laura Behan1
- School of Clinical and Experimental Sciences, University of
Southampton Faculty of Medicine, Southampton UK
- NIHR Applied Research Collaboration Wessex, University of Southampton,
Southampton, UK
- Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS
Foundation Trust, Southampton UK.
- Department of Psychology, School of Life and Health Sciences, Aston
University
- Primary Ciliary Dyskinesia Centre, Royal Brompton & Harefield
Hospital NHS Foundation Trust, London UK
- Department of Paediatrics, University of British Columbia, CA
- Hospital for Sick Children (SICKKIDS), University of Toronto, CA
- PCD Family Support Group, UK
- Department of Paediatrics, University of North Carolina at Chapel
Hill, USA
- Primary Ciliary Dyskinesia Centre, Leeds Children’s Hospital at Leeds
Teaching Hospitals NHS Foundation Trust, UK
- Primary Ciliary Dyskinesia Centre, University Hospitals of Leicester
NHS Foundation Trust, UK
- Department of Medicine, University of North Carolina, Marsico Lung
Institute, Chapel Hill, North Carolina.
Competing interest
On behalf of all authors, the corresponding author states that there are
no competing interests to declare.
Abstract
Primary ciliary dyskinesia is an incurable, rare, inherited, chronic
condition. Treatment includes regular clearing of airway mucus,
aggressive treatment of infections and management of hearing loss.
Caregiver burden has not been explored, hence we interviewed 18 English
speaking mothers and 6 English speaking fathers of children under 6
years who were diagnosed with PCD around the world. The parents
described how the child’s diagnosis, treatment regimen, and health
status impacted their life. They discussed the impact of the COVID-19
pandemic and they talked about the different ways they cope with
challenges that arise. The need for integrated social care is discussed.
Keywords: primary ciliary dyskinesia, caregiver burden, chronic
illness, preschool, COVID-19, Quality of Life
Introduction
Primary ciliary dyskinesia is a rare (1:10,000) genetic lung disease
caused by impaired clearance of mucus and debris from the airways.
Individuals with PCD often present with unexplained neonatal symptoms
often, requiring respiratory support (Mullowney et al., 2014). They
continue to have persistent lung and nasal symptoms in infancy, with
frequent infections. Progressive chest symptoms persist throughout life
and include daily wet cough and recurrent chest infections almost
invariably leading to irreversible bronchiectasis by adulthood (Lucas et
al., 2019). Cilia do not clear fluid from the middle ear causing
frequent ear infections, hearing impairment, delayed speech and
learning. Dysfunction of the embryonic nodal cilia causes situs inversus
(mirror image positioning of organs in the body) in ≈50% of cases,
sometimes associated with congenital heart disease (Best et al., 2019).
Despite symptoms from birth diagnosis is often delayed, primarily
because of lack of awareness amongst clinicians (Behan et al., 2016).
Major efforts to improve knowledge of paediatricians has reduced the
average age of diagnosis from 6 years in 2009 to 2.6 years in 2015
(Kuehni et al., 2010; Rubbo et al., 2020). There is no cure, and
management aims to control symptoms, improve hearing, treat infections
and delay lung damage (Lucas et al., 2017a). Most importantly, PCD
patients need to adhere to daily time-consuming treatment airway
clearance regimens aimed at facilitating mucus clearance (Schofield et
al., 2018).
From birth, the parents of children living with PCD are faced with the
challenges of caring for a child with a (un)diagnosed chronic condition.
Parents not only assist the child in activities of daily living, but
also accommodate the nutritional, physical, social, emotional, medical
and financial needs associated with the chronic health condition. This
has been shown to differentially impact parental wellbeing. Pelentsov et
al. (2016) for instance describes that parents of a child with a rare
chronic condition felt socially isolated as others did not understand
what the parent was going through. Many mothers reported that caring for
a child with a chronic condition required adjustment in their
employment. Germeni et al. (2018) found that parents of children with
chronic conditions try to reconstruct some form of normality once
diagnosis has been made. The stability of this normality depends heavily
on the fluctuations in health status of the child with the chronic
health condition and ability to control these fluctuations (Dudeney et
al., 2017).
To date, the impact of child’s PCD on parental wellbeing has not been
well documented. A previous study has indicated that a small group of
Italian mothers of children (age 6 to 16 years) living with PCD
experienced more distress than mothers of children who did not have a
chronic health problem (Carotenuto et al., 2013). Another study found
that Turkish parents to children (age 6 to 16 years) diagnosed with
cystic fibrosis experienced significantly more caregiver burden than a
small group of parents to children diagnosed with PCD (Keniş-Coşkun et
al., 2019). As so little knowledge exists, we conducted this qualitative
study to explore the impact of caring for a young child diagnosed with
PCD on English speaking parents from around the world.
Methods
The study is reported according to the Consolidated criteria for
Reporting Qualitative health research (COREQ) (Tong et al. 2007). The
study received ethical approval
from the Southampton and South West Hants Research Ethics Committee
(06/Q1702/10; University of Southampton ERGO#53155), University of
North Carolina Internal Review Board (IRB#09-1099), and Hospital for
Sick Toronto Children Research Ethics Board (REB#1000024263).
Recruitment
English speaking parents of young children (<6yrs old) who had
received a diagnosis of PCD according to international guidelines (Lucas
et al., 2017b), were recruited by PCD specialist’s team from three PCD
centres in England (Southampton, London, Leeds) and two PCD reference
centres in North America (Chapel Hill, USA; Toronto, Canada) between
November 2019 and November 2020. In addition, recruitment advertisements
were circulated among the members of the PCD Support Group UK. Clinical
teams recruited twenty-one parents, and three members of the PCD Support
Group agreed to participate. This method of convenience sampling was
used as PCD is a rare disorder. If both parents agreed to participate in
the study, they were interviewed separately, except in one case where
the parents were interviewed together.
Participants
Eighteen mothers and six fathers of 20 children participated. Detailed
information on the child is provided in table 1. Most parents resided in
the UK (n=16), 3 in Canada, 2 in USA, 1 in Georgia, 1 in Ireland, and 1
parent in the Netherlands. Four parents completed secondary education, 3
completed further education, 6 completed professional training, and 11
completed higher education. Fourteen of the parents were part-time or
fulltime employed, 2 of the parents were self-employed. Five of the
parents self-identified as homemakers and 3 as unemployed.
“TABLE 1 INSERT HERE2
Data collection
Following consent, semi-structured interviews were conducted with
participants over phone or via videoconferencing. Interviews followed an
interview guide exploring experiences around birth, child development
and progression symptoms, healthcare needs child, impact child’s PCD on
parent and thoughts about the future. The interview guide was developed
by CD after a literature review and refined by a panel PCD clinicians
and patient representatives (Appendix 1). CD, a psychologist experienced
in mixed research methods, conducted most of the interviews. LB,
experienced in developing Quality of Life scales for individuals living
with PCD (Lucas et al., 2015; Behan et al., 2017; Behan et al., 2019)
and trained as a qualitative interviewer, conducted 3 interviews and
validated thematic coding. Both interviewers were not known to any of
the participants. Interviews with participants ceased when no new
information emerged during the conversations. Data saturation was
assessed periodically by CD and LB. All interviews were digitally
recorded and transcribed verbatim. Interview length ranged from 30
minutes to 125 minutes with most interviews lasting between 45 and 60
minutes.
Data analysis
The transcripts were analysed using nVivo 12.0 (QSR International,
1999). An inductive approach using reflexive thematic analysis was
adopted (Braun and Clarke, 2019). The first 10 interviews were coded
independently by CD and LB. Themes were identified inductively and
similar subthemes were grouped together under an overarching thematic
framework (Supplementary material). Initial coding was cross-compared
and a preliminary thematic framework was agreed upon. The remaining
interviews were analysed by CD. The thematic framework was further
refined by findings of the subsequent interviews and through discussion
with the research team (see table 2).
“TABLE 2 INSERT HERE”
Results
This paper concentrates on the impact of PCD on the parents. Five themes
created an understanding of the parent’s experiences: Impact of child’s
PCD diagnosis on parent; Impact of child’s treatment regimen on parent;
Impact of child’s health status on parent; parent’s coping strategies;
parental concerns for the future. Under these overarching themes we
identified several subthemes.
Impact of child’s PCD diagnosis on parent
For those children with situs inversus, the abnormal organ arrangement
was often picked up at the 20-week pregnancy scan. Parents described
that once this was identified they were exposed to multiple prenatal
tests and had to have regular appointments. Parents spoke of this as
being a very difficult time: