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\begin{document}

\title{Experiences of parents whose young child has been diagnosed with primary
ciliary dyskinesia}



\author[1]{Corine Driessens}%
\author[1]{Siohan Carr}%
\author[1]{Edel Clough}%
\author[1]{Fiona Copeland}%
\author[1]{Sharon Dell}%
\author[1]{Lucy Dixon}%
\author[1]{Amanda Harris}%
\author[1]{Rebecca Knibb}%
\author[1]{Margaret Leigh}%
\author[1]{Manjith Narayanan}%
\author[1]{Beatrice Redfern}%
\author[1]{Evie Robson}%
\author[1]{Michael Sawras}%
\author[1]{Lynne Schofield}%
\author[1]{Kelli Sullivan}%
\author[1]{Myra Tipping}%
\author[1]{Nhu Tran}%
\author[1]{Woolf Walker}%
\author[1]{Jane S Lucas}%
\author[2]{Laura Behan}%
\affil[1]{Affiliation not available}%
\affil[2]{University of Southampton}%


\vspace{-1em}



  
  \date{May 24, 2024}


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\selectlanguage{english}
\begin{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.%
\end{abstract}%



\sloppy


\textbf{Experiences of parents whose young child has been diagnosed with
primary ciliary dyskinesia}

by

Corine Driessens\textsuperscript{1,2,3}

Siobhan Carr\textsuperscript{5}

Edel Clough\textsuperscript{8}

Fiona Copeland\textsuperscript{8}

Sharon Dell\textsuperscript{6}

Lucy Dixon\textsuperscript{8}

Amanda Harris\textsuperscript{1,3}

Rebecca Knibb\textsuperscript{4}

Margaret Leigh\textsuperscript{9}

Manjith Narayanan\textsuperscript{11}

Beatrice Redfern\textsuperscript{8}

Evie Robson\textsuperscript{10}

Michael Sawras\textsuperscript{7}

Lynne Schofield\textsuperscript{10}

Kelli Sullivan\textsuperscript{12}

Myra Tipping\textsuperscript{8}

Nhu Tran\textsuperscript{8}

Woolf Walker\textsuperscript{3}

Jane S. Lucas\textsuperscript{1,3} ORCID ID: 0000-0001-8701-9975

Laura Behan\textsuperscript{1}

\begin{enumerate}
\tightlist
\item
  School of Clinical and Experimental Sciences, University of
  Southampton Faculty of Medicine, Southampton UK
\item
  NIHR Applied Research Collaboration Wessex, University of Southampton,
  Southampton, UK
\item
  Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS
  Foundation Trust, Southampton UK.
\item
  Department of Psychology, School of Life and Health Sciences, Aston
  University
\item
  Primary Ciliary Dyskinesia Centre, Royal Brompton \& Harefield
  Hospital NHS Foundation Trust, London UK
\item
  Department of Paediatrics, University of British Columbia, CA
\item
  Hospital for Sick Children (SICKKIDS), University of Toronto, CA
\item
  PCD Family Support Group, UK
\item
  Department of Paediatrics, University of North Carolina at Chapel
  Hill, USA
\item
  Primary Ciliary Dyskinesia Centre, Leeds Children's Hospital at Leeds
  Teaching Hospitals NHS Foundation Trust, UK
\item
  Primary Ciliary Dyskinesia Centre, University Hospitals of Leicester
  NHS Foundation Trust, UK
\item
  Department of Medicine, University of North Carolina, Marsico Lung
  Institute, Chapel Hill, North Carolina.
\end{enumerate}

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.

\textbf{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 (Keni\selectlanguage{polish}ş-\selectlanguage{english}Co\selectlanguage{polish}ş\selectlanguage{english}kun 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 (\textless{}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:

\emph{``in antenatal stage at my 20-week scan, where you know I was
going there really excited to find out what, am I going to have a boy or
a girl. Half-way through the scan the lady who was doing the scan kind
of went quiet and then said that she needs to get her
colleague\ldots{}.and I just straight away knew there was something
wrong. The other lady came in and she did say that she can't see his
stomach. They got me an appointment the following day to see a
consultant and then we discovered that his stomach is placed on the
other side. So, through the antenatal stage I had lots of scans, I went
to see the doctor, cardiologist to check his heart. Then I had a c
section\ldots{}. it was just horrendous. \ldots{}. they took him out, I
had him with me just a few seconds and they take him to intensive care
unit because they had to check him \ldots{}.. I couldn't see him for
like 5 hours, I didn't know what was going on.'' (mother 15)}

Parents credited the identification of abnormal situs to an earlier
diagnosis for their child. Some parents remembered PCD being mentioned
as a possibility during their pregnancy or shortly after.

\emph{``So, that then triggered lots of things put in place for as soon
as he was born. So we had like heart tests and things like that and
obviously one of the things that they tested for, was PCD\ldots{}..So it
was just really quick. Like we were kind of aware that it was something
that he might have even before, I think, I don't know if PCD was
mentioned before he was born, but pretty soon afterwards.'' (mother 4)}

All parents noticed the child's symptoms at birth, yet only 11 of the 20
children were diagnosed at this time. During the pre-diagnostic period,
parents had no knowledge of how to support and care for their child;
when reflecting on this, parents recollected their helplessness and
emotional distress.

\emph{``Nobody ever really knew what it was, so I think that was the
hardest for us, those four years of just what could it be? Could it be
something you know life threatening? Who knows what it could
be\ldots{}\ldots{}. before he was diagnosed, I was always worried and
sometimes I would put it in the back of my mind for a few weeks and not
think much of it until he got like a really bad cold \ldots{}.. we were
always worried because we knew something was wrong.'' (mother 10)}

A considerable number of parents reported frustration and feeling
dismissed when raising the issue of their child's symptoms to medical
experts or to their extended family and friends; many were told their
child would probably grow out of their symptoms:

\emph{``And every doctor we went to was like ''he will grow out of it''
or ''it is probably reflux.'' He was on reflux medication, didn't help.
They always had some sort of excuse, they used to just shrug it off.''
(mother 10)}

These experiences differed from parents who already had experience of
PCD. In the following narrative a mother who already had an older child
with PCD describes the emotional impact of the pre-diagnostic period of
her older child compared of her youngest child.

\emph{``when our first born was diagnosed, I mean oh my gosh, it was
horrific. I was petrified, I was scared, I didn't know what was going
on, we didn't have a clue what we were facing, didn't have a clue what
they were testing her for, so it was very much a case of we were scared.
Whereas with our current child we knew exactly what they were testing
him for, we were 99\% sure that he had it (PCD), so actually it was more
sadness that our thoughts, our worse fears kind of being confirmed I
guess.'' (mother 3)}

Once the child was diagnosed, most parents felt mixed emotions. They had
feelings of relief now having a name for their child's condition mixed
with feelings of sadness because the child had a life-long condition
that always needed to be managed.

\emph{``we were relieved and sad at the same time. Because PCD, it's
something he will have for the rest of his life, and something he will
have to deal with for the rest of his life. You know, we were sad that
he did have a condition that would affect him for the rest of his
life.\ldots{}\ldots{}. we were happy because now he is being treated, so
now we can actually get things with his diagnosis so we are relieved
that we have one.'' (mother 10)}

Many parents did not process their child's PCD diagnosis immediately,
but just focused on dealing with daily challenges. These parents
described getting overwhelmed when faced with a major challenge.

\emph{``I think the hardest thing we ever found to deal with was the
hearing aids\ldots{}..Which was just because we'd coped so far, like he
was 18 months when he had hearing aids in and I think that, at that
point we were like, actually it's ok to not feel ok about this. Whereas
up until that point we were like ok, yeah, we can do this, we can do
this!''} \emph{(mother 4)}

Impact child's treatment regimen on parent

Parents caring for their first child with PCD described feelings of
worry and stress, having responsibility for PCD management. Treatment
regiments were described as overwhelming particularly in the early
stages of diagnosis but became easier over time.

\emph{``when we started treatment yes, it was like a big whole day, I
was either preparing or giving a treatment, so there was nothing I could
do, no cleaning, no dinner, nothing. And it was like how, can I do this
like for ever and this was really hard. But later, I was little faster
and now it is like everything is getting better.'' (mother 8)}

Parents of children diagnosed with PCD changed their daily schedule to
accommodate the child's daily PCD treatment regimen. Most parents
provided the child with 1 to 3 daily airway clearance (physiotherapy
treatment) sessions totalling 20 to 360 minutes each day. For most
parents it took 1 to 2 years to settle into a lifestyle that
accommodated the medical needs of their child. While some parents shared
the daily treatment burden, for most couples it was the mother who took
responsibility. Parents scheduled or planned each day to accommodate the
daily treatment or they developed a new daily routine. One mother
described:

``\emph{living with PCD it's a lifestyle really, it's something that we
fit it all into the daily routine.'' (mother 1)}

Parents described having to wake up earlier in the morning and return
from work or family excursions earlier in the evening to support their
child with the PCD treatment.

\emph{``\ldots{}.it has to be timed very well and done in a specific
order\ldots{}.we can't just do things spontaneously, you know like a
family with children with, who don't have the condition, you know if
they want to change it up at the last minute, they can do that, whereas
we couldn't, if we went out for a certain period time for example, I
couldn't just say, yeah let's just stay it's fine we'll just stay later,
because it might be that I don't have a certain medication on me''
(mother 3)}

Parents generally prioritised treatment over any other activity. At this
young age the child needed parental supervision to adhere to the daily
treatment. The child didn't always sit still for treatment and adherence
could be challenging for parents. Some parents used a role model (older
sibling, parent) to convince their children to do daily treatment. Some
parents explained to their child that the treatment will keep the germs
out and will make them feel better. For most parents repeated reminders,
chasing, struggles, and restraining were commonplace. Other parents did
not make a big fuss but handled it matter of fact as this father
explains.

\emph{``he does have this aerobika thing that he does after the
nebuliser, so it's like, it's this whole process, he does it twice a day
but he's used to it, we don't make a big fuss about it,
\ldots{}\ldots{}.and then antibiotic, but he doesn't know what it is,
what it does. He just knows he has to take it.'' (father 4)}

Parents also cuddled with their child or used other methods to calm the
child so the daily treatment would not upset them. Various parents
bribed their child to do daily treatment, but most parents used
electronic distraction to encourage adherence to daily treatment.

\emph{``I mean we always put him in front of the telly and do and try
and to make it like a nice thing, rather than something boring, so you
know it's part, his bedtime routine it works brilliantly because it's
like 10 minutes of chill out calm before stories and bed, so that works
really well, but in the morning he just wants to play now, he doesn't
want to sit down or do it, so he does do it, but it's bribed with you
can have this at the end of it (Laughter) anything to get him to do
it.'' (mother 4)}

A number of parents felt unsure whether they were doing the daily
treatment correctly and several found it hard and emotional to enforce
treatment when the child was upset.

\emph{``it is about emotionally as well, it wasn't really comforting
\ldots{} she is looking at you and you are actually giving her physio
and you want her to have the head mask as well and you know she doesn't
know what is happening\ldots{}..to be honest that was actually really
really difficult. \ldots{}\ldots{}. she was getting very very edgy, like
she was crying and really upset and we were supposed to keep her there
for like 5-10 minutes, I mean, depending on how we feel, like if she is
coughing or not.'' (mother 2)}

The parents described their frustration at the continuity of the
condition and treatments. They explained how important it is for their
child to do the treatment every day in order to stay well. They felt
time pressured in the morning to complete the PCD treatment before they
did any other activities. The also described not being able to follow
their own interests or schedule alone time.

\emph{``it's harder for me in this aspect, to not to be able to go
whenever you want \ldots{} the thing for me is that I don't have enough
time to do everything what I want to do\ldots{}\ldots{} I am more at
home, at home and taking care of my kids, that's what changed I guess.
I`m not going out as much as I used to'' (mother 8)}

As PCD is a rare disease, parents often spoke of their difficulty when
dealing with medical professionals who don't have an awareness of PCD.
Children with PCD are often prescribed antibiotics to treat repeated ear
and lung infections. Parents discussed challenges they experienced in
getting antibiotic prescription from a GP or filled by the pharmacy.

\emph{``to get a new prescription, and if that's something different I
have to explain again, and then sometimes they need to call the
specialist, \ldots{}. sometimes the doses is different than they used to
give, it's higher \ldots{} sometimes the treatments are for four weeks
instead of one and they're like 'we need to ask questions', I understand
that, but sometimes I get so tired of explaining myself again.'' (mother
13)}

A few parents worried about the side effects of antibiotics on their
child's health and they feared that antibiotics would stop working in
the long run as their child is taking them quite often. Parents also
faced issues where their child became upset at having to take
antibiotics due to the `nasty taste'.

\emph{``one of the things which is quite difficult is to get to take his
antibiotics. \ldots{}as he's got older that's become more tricky and
we've had to hide it in food. Because sometimes you've got to give him
this stuff 3 times a day and it's not particularly flavoured nicely, so
he's very aware that this is medicine that he's having and he doesn't
want to have it so, um obviously that's something that is, you can
overcome it but sometimes it's quite tricky.'' (father 2)}

In some healthcare settings children diagnosed with PCD attended a
one-stop multidisciplinary clinic once every 3 months for review by a
PCD respiratory consultant, respiratory physiotherapist, PCD nurse
specialist, and sometimes a psychologist, dietician, and/or
Ear-Nose-Throat consultant. In countries with fragmented PCD care, the
parent was responsible for coordinating all appointments and
communication with medical specialists needed for their child's
wellbeing.

Most parents valued an update on the medical status of their child and
felt involved in the medical decision making regarding their child.
Parents described their medical team as family and felt they could
contact their medical team whenever they had questions or issues.

\emph{They have been so awesome and I feel so close to all of them. They
are almost like family now (laughs)\ldots{}..I can't say anything
negative about them. I feel included in every decision. (Mother 13)}

In some instances, parents did not feel supported by the PCD healthcare
team. Some experienced language barriers, unclear information, a lack of
practical support, felt not listened to, or the parent felt powerless to
refuse required PCD healthcare. The appointments were time consuming,
sometimes requiring the parent and child to be at the hospital for
several hours. Working parents often needed to claim a holiday or took
unpaid leave to accompany their child to these appointments. For a few
parents it was quite emotional to attend clinic. As this mother
explained:

\emph{``I find it quite difficult because it is a reminder I think of
how serious his condition is and I struggle with going
\ldots{}\ldots{}it would just bring up a lot of emotions and I'd get
really upset and I think I get really fearful even though they are a
really\ldots{}.they're really supportive \ldots{}\ldots{}.. having a
whole team of people was frightened me at first and
\ldots{}.uhm\ldots{}..it\ldots{}because it made everything so\ldots{}..I
mean it was very serious to me anyway\ldots{}.but it just\ldots{}.made
it even more serious\ldots{}and more scary but\ldots{}.I knew that they
were there for \ldots{}.for a good reason, I did not want my son to have
all this\ldots{}.need, all these people'' (mother 7)}

It could also be quite stressful due to the emotional/behavioural
response of the child. As mentioned by this mother, parents needed to
prepare their child for the visit and often rewarded them for compliant
behaviour:

\emph{``sometimes when I say `hospital' he thinks he's being
hospitalised, and that's something in his mindset. If he says something
like that, it makes me a bit sad. I have to explain to him which
hospital it is, it's really important to prepare him for that. Yeah, to
prevent that he \ldots{}he thinks he has to be hospitalised\ldots{}., I
have to reward him afterwards. And we try to make it as positive as
possible'' (mother 13)}

The parents tried to stay calm when they saw their children struggle
with the procedures and did not like to restrain their child as this
father explained:

\emph{``The hard bits I suppose are when (child's name) has to undergo
medical bits and pieces like nasal brushings and things that he doesn't
want to do because either it hurts or it's just an invasion of his
privacy'' (father 2)}

The worst time for parents was when their child was hospitalized. They
described it as a draining time, full of emotions and anxiety where they
felt out of control. Not being able to be together as a family and care
for any additional children had an emotional impact on the parent.

\emph{``It's horrible, it's the worst time\ldots{}I used to think it was
hard when (child) ended up in hospital and at the time that was like the
end of the world. You know, we had one child and that child was in
hospital and you worried about that child and it was just awful. But
actually, now having 2 with it and one without -- having 3 children,
what actually now has materialised is hideous, as a mother having to
pick between your children, having to choose between them.'' (Mother 3)}

Impact child's health status on parent

In general, parents did not anticipate their child being born with
health problems when they decided to start a family. Now that they were
living with a child with a long-term health condition, they sometimes
wished the child did not have PCD, were wondering why this happened to
them or wished that there was a cure. Emotionally, the worries about PCD
never left some parents. For some parents PCD worries were in the back
of their mind surfacing as soon as the child was feeling unwell, the
child needed to visit a doctor or therapist, or they received PCD
related correspondence. Parents wanted their child to live as normal a
life as possible as explained by the following mother:

\emph{``I want my children to experience as normal a life as they
possibly can and so for me, that includes travelling. So you know, yes
we take those risks and we just go for it! And we do it because, you
know I don't want to have the regret of not having done it.'' (mother
3)}

For other parents the PCD worries were with them every day. Always being
on high alert can be overwhelming. These parents felt worn out and
overrun by PCD.

\emph{``I do feel I'm quite stressed, I'm quite run down. I just feel
everything's sort of on top of me at the moment \ldots{}.. it's just
constant, sort of appointments and phone calls and ordering her
medication and chasing it up and having to call this person and that
person and so on and so saying they don't know, then try this, it just
goes round in circles sometimes, so I do get a bit frustrated and
angry'' (mother 14)}

This distress had led to sleep deprivation, stress, and feelings of
unhappiness, sadness, depression, and anxiety. Five of 10 parents
reporting mental health symptoms received a clinical diagnosis and/or
treatment for depression, anxiety. One parent reported that her physical
health was affected, she now received treatment for stress-induced high
blood pressure.

On the practical side the parents did anything they believed would keep
their child well such as being vigilant not to expose the child to
infections, behaving more cautiously around other people, assessing the
child's health condition during the day as well as night, assessing the
risk level of each activity, ensuring the child attended medical
appointments, making sure the child had tissues to wipe their running
nose, and prolonged breastfeeding. They were on constant alert to make
sure the child did not develop a cold or became unwell. A few parents
even checked their child with a stethoscope or oximeter on a daily
basis, various parents regularly measured the child's temperature, other
parents kept a diary/record, or closely monitored the child's symptoms.
The parents mentioned a variety of emotions when child was unwell
including that they were worried, scared, anxious, upset, or sad.

As the following mother described some children with PCD can become
unwell very quickly:

\emph{``With her it comes on so sudden, so you don't really notice a
change until it's too late and you need to get her into the hospital on
to oxygen. Because she could be fine, the last time we had it, she went
to bed, she'd been at nursery all day, she had her tea, she went to bed,
she was fine -- I noticed she was a bit wheezy, so I gave her blue
inhaler, I waited didn't have any impact on her, gave it to her again
and she was just getting worse and worse and worse. It was just so
sudden like within a couple of hours we were having to call an ambulance
out.'' (mother 11)}

Hospitalizations were described as being horrific and overwhelming; it
made the parents feel out of control. The following mother disclosed:

\emph{``I hate it, it makes me cry every time. Because it just takes me
back to when she was little when the first time we went into hospital
and we were in there for 3 weeks. And it felt like we were never going
to get out.'' (mother 11)}

Most couples had to adjust work commitments once they started caring for
a child with PCD. One of the partners usually stopped employment,
started working from home, became self-employed, minimalized work hours,
and/or took a less demanding vocational role. The other parent was no
longer able to make overtime and needed to take holidays or unpaid leave
to accompany the child to medical appointments. Losing this additional
income financially affected most families living with a young child
diagnosed with PCD. The couple felt that one of them needed to have the
flexibility to attend to the child's daily and emergency health needs.
The following mother explained why she started working part-time:

\emph{``I work part time, I work 2 days a week, because after my
daughter got diagnosed with PCD it was just too much I just couldn't
cope working any more than 2 days, um I just was really run down and
tired and taking too much time off. I wasn't sleeping well, I had to go
down doing 2 days. Even so I do 2 days, I'm still struggling, I'm just
thinking I might have to give up work, but financially we can't cope to
be honest if I did sort of give up work.'' (mother 14)}

Another mother explained that she had to stop working out of fear her
children would pick up illnesses in other people's care and how this had
a major impact on her and her own life expectations.

\emph{``I stopped working so I could be here so they wouldn't be at day
care and wouldn't get exposed to so many germs. \ldots{}\ldots{}. you
know I gave up my career so that I could better take care of the
kids\ldots{}\ldots{}. I don't work anymore. So this is the worst thing
for me, if we are talking about me as a mother. I always thought that I
would have a career and a family too, close together and right now I can
only I don't have any career right now and I studied a lot and when I
meet my old friends, you know from university or from school, they are
like, oh my god, I don't believe you don't work! This is what everybody
expected or I was expecting from myself.'' (mother 8)}

The child's genetic diagnosis prompted the parents to reflect on family
goals and some parents discussed their decision not to have any more
children.

\emph{``we always thought we have 2 children, but after having a child
with PCD we decided not to have another child because we did not want to
risk that we would pass the \ldots{}the faulty genes on again and have
another child with PCD\ldots{}.uhm I think very much \ldots{}not so much
from a selfish point of view as in we don't think we'll be able to cope
with that\ldots{}uhm\ldots{}.but we felt that it was not fair to risk
having another child and passing on the condition again'' (mother 5)}

Socially many parents felt their child's PCD care did not leave any room
for spontaneity or time for themselves. They did not get a break, were
unable to go out much. The PCD care interfered with their ability to see
friends/colleagues/family and PCD limitations had changed family
activities. They no longer had time for hobbies or even time to spend on
their appearance. Although the PCD diagnosis of the child had placed a
strain on many marriages, most couples had been able to work through
this and came out the stronger for it.

\emph{``I think, for me and my husband, we're a pretty good team
actually. He, generally, in our general kind of marriage, we parent very
similarly, but obviously it adds a bigger impact on us, on our marriage
for sure because we're making decisions that perhaps other parents don't
actually have to make. So it definitely puts a bigger impact on our
marriage, but generally we're pretty good at dealing with that.''
(mother 3)}

In families with other children without PCD, parents sometimes believed
these children lacked parental attention.

\emph{``I know it has had a big impact on my 2 other children, because
of this condition that my child has PCD, you know. Because they can see
I give her more time and I don't have enough time for them and even if I
do, I'm just too tired that my attention is not with them, especially
when it comes to homework and just other stuff, you know cos I'm just
physically run down and tired doing all the chest physio and stuff like
that. I get tired myself, you know what I mean.'' (mother 14)}

Parents received support from friends and family, however reported
feeling that nobody understood exactly what they are going through. The
following mother explained:

\emph{``\ldots{}.maybe they try to understand our position, but do they
really get it? No, absolutely not! I don't think, that's a slight on
anybody else, that's just unless you're living it, I guess you can't
really understand it. No more that I could understand somebody else's
position with perhaps a different condition.'' (mother 3)}

Parent's coping strategies

There was wide variation in the way parents coped with the challenges of
caring for a child with PCD. We have classified the different styles of
coping into support seeking, problem-focused, emotional-focused, and
cognitive-adaptive coping strategies. Some parents discussed how support
from partner, family, healthcare providers, online PCD support groups
had enabled them to cope when child was hospitalized or unwell. Some
parents sought medical information to explain why their child was unwell
while other parents needed to talk to somebody who was willing to just
listen.

Several parents dealt with the challenges of raising a child with PCD
pragmatically, by taking things day-by-day, and focusing on the problems
at hand. They became knowledgeable about PCD and sometimes learnt new
skills to take control, as highlighted by the following mother:

\emph{``I'm actually qualified now, so I trained to do home IVs, so I
can actually administer once they have a PICC line fitted and the
consultant decides they're ok to be in my care at home. I actually bring
them home and I do the IV myself because again it's given us the ability
to back together as a family and I think that's the biggest care --
sometimes not being able to be together as a family. `` (mother 3)}

Some parents tried to forget their worries and supressed negative
emotions that surfaced due to the challenges of raising a child with
PCD, for example by crying, exercising, keeping busy, thinking positive
thoughts, having fun and laughing a lot. Some found themselves taking
prescribed mental health medication, whereas other parents positively
re-assessed the situation so it no longer induced negative emotional
responses through techniques such as praying, not thinking about PCD,
wishing for the miracle of a cure, or knowing that today is a bad day
but hoping that tomorrow might be a good day. The most popular form of
adaptive cognitive coping was the parent comparing their situation with
somebody who was worse off. As this father described:

\emph{``I currently have in my team at work somebody who's having a baby
who's got a tumour on her brain and it's about viability of the baby, so
when you think about what could be happening and that fact that my son
has wonderful life and is very happy and he actually talks fine and he's
you know got a zest for life, he's enthusiastic and he's running around
actually compared to perhaps what other people are going through, this
really isn't as big a deal as it could have been.'' (father 2)}

Parental concerns for the future

Parents who were thinking about the future mentioned their anticipation
of explaining PCD to their child when they are old enough to understand.

\emph{``I feel confident in terms that we're doing the right thing at
the right stage of his life at the moment. I feel nervous that we'll get
it wrong later on, especially as we have to start explaining things in
more detail to him and I worry what his reaction with be.'' (father 2)}

The expected social impact of PCD symptoms and the child's potential
emotional response are well described in these two narratives:

\selectlanguage{ngerman}\emph{``Currently my son is very confident, but kids can be very cruel
and I think if he's going to continue speaking very, very unclearly,
they might pick up on him. \ldots{} I don't know, but you know simple
things like, he can't say finish, he's saying pinish, and you know for 4
½ its still quite cute, but when he's 6, 8 or 10, it's not going to be
cute any more, it will become an issue for him'' (mother 15)}

\emph{``I think he will be more affected by it when other children get
annoyed by it, so like he coughs a lot, you know and I can just imagine
him sitting in class coughing and someone's going ``ooh, that's not very
nice''. So, it's that, that we need to be like teaching him how to do it
nicely, and make sure he blows his nose, and all of those things, just
to support the social aspect of it. I guess it's that side of it that
needs to be carefully managed and supported as well because otherwise he
will be physically fine but mentally not, so \ldots{} we need him to be
able to cope with that side of it.''} \emph{(mother 4)}

Another concern that was frequently mentioned was progression of disease
severity. Some parents worried that lung damage might lead to lung
transplant, progression of hearing loss, and even PCD cutting their
child's life short. Currently, parents were in control of PCD treatment
and adherence, but some worried whether their child would continue to
manage their treatments adequately when older.

\emph{``my child will become more independent with treatments and stuff
and we're helping her to achieve that, but that's quite tough to achieve
that, because you want them to have the best possible treatment and in
my eyes, the best possible treatment is me being in control of that
treatment.\ldots{}\ldots{}So that concerns me. Have I brought her up in
the best possible way I can for her to really comprehend how serious
this condition is and that PCD if it's well maintained\ldots{}. she can
live\ldots{}as normal a life as she allows herself to live, by the
treatment she continues to do?'' (mother 3)}

Many parents thought about how PCD might limit the child's social
activities, development, and career goals.

\emph{``it's going to have a big impact in her daily life, daily
routine, because she will have to be home to do her therapy and stuff
like that. She won't be able to do all the normal things her friends
do.'' (mother 14)}

The most frequently raised concern for the future was fertility. As
discussed by one mother, parents worried how fertility treatment would
impact their child and whether the grandchildren would inherit this
genetic disorder.

\emph{``\ldots{}what I'm really concerned about also, is whether he'll
be able to have children one day. Because, I know the kind of science is
moving in the right direction and there might be some further
development, but from what I understand for males with PCD to actually
conceive the child naturally it can be difficult. So he might need some
extra help and I know that for some males that might be an issue, they
won't be an alpha male. Being able to fully, not just perform, but what
I'm saying is being able to do all those things that they are kind of
natural to male, and it might affect his confidence and self-esteem and
mental health in the future.'' (mother 15)}

COVID-19 pandemic and caring for a young child with PCD

Three months into this project the COVID-19 pandemic started. As we
wanted to focus on everyday experiences of parents caring for a young
child with PCD, our data collection stopped from March to July 2020, the
first wave in the COVID-19 pandemic in the UK. COVID-19 was rarely
reported among children diagnosed with PCD (Pederson et al., submitted)
and as the world tried to return to some form of normality, the data
collection for this study resumed from August to December 2020. The
interviews did not focus on the effect of COVID-19 on caring for a child
with PCD, but parents spontaneously brought up the impact COVID-19.

Parents discussed how anxiety-inducing it is caring for a young child
with PCD due to COVID-19. One mother described how she worried about her
child going to school and that he wasn't shielded anymore:

\emph{``I think also, with COVID-19, that's a completely different
story. COVID-19 itself is really anxiety provoking and for someone who,
you know their son has PCD, where we don't fully know how he's going to
react because I understand this is pretty much case by case, the anxiety
is even higher. He has to go to school because there isn't a shielding
group 3 anymore. God knows what he is going to bring back from that
school\ldots{}..You know any kind of social contact,\ldots{}outside of
our house, so that's even more frightening for us'' (mother 15)}

Some parents deferred start of school for an additional year. All
parents mentioned that they had deferred any holiday activities. Several
parents mentioned that the COVID-19 pandemic had impacted on their
child's social interaction outside of the immediate household,
especially ability to attend sport activities. COVID-19 caused an
additional level of social isolation for the family caring for a
vulnerable child. This mother mentioned that shielding during the
beginning of the COVID-19 pandemic impacted on social development of her
child:

\emph{``when we had to keep him inside for like 3 months and I was at
home with him, shielding that affected him and when we first came back
to our lives and seeing other people he was really quite shy he didn't
want to see anyone again\ldots{}..that way of keeping him inside for so
long it was hard for him to get back into society and stuff like with
people again.'' (mother 17)}

Most frequently mentioned was the enhanced vigilance around infections
since the start of the pandemic, for example cleaning hands regularly,
deterring the child from putting items into their mouths, washing
clothes of family members who had attended outdoor activities, cleaning
groceries coming into the house. General PCD care was sometimes delayed,
routine clinic appointments postponed or conducted online, which
especially impacted children with hearing problems and speech delay. The
mother of one child reported:

\emph{``he had his hearing tested twice before lockdown before the March
lockdown and then all the appointments got postponed. So, what they said
is that he's got a glue ear and he needs to be monitored closely but has
not had any tests ever since'' (mother 15)}

Discussion

To the best of our knowledge, this is the first study exploring parental
experiences of caring for pre-school children with PCD. It provides
valuable insights into parental adjustment and adaptation to the
diagnosis and management of their child's PCD. Diagnosis of this rare
and persistent condition was a disruptive life event. Adjustment to a
new normality was a gradual process, facilitated by getting a diagnosis
and an explanation for the child's symptoms. Some families lived in
countries where PCD health care was coordinated through a
multidisciplinary team, whilst other families received fragmented care
and were personally responsible for coordinating appointments with
different specialties. As the COVID-19 pandemic started part way through
the study, the information collected also covers PCD care during this
unpredictable stressful life event.

As there is no cure for PCD, the health status of the child is dependent
on PCD management. Parents found the additional effort to keep their
young child healthy and happy was not only physically but also
emotionally taxing. Although parents recognized the benefits of a PCD
treatment regimen, similar to the reports of parents with other chronic
conditions (Hawkins et al, 2020), the commitment provided challenges to
the fulfilment of their social, vocational, and parenting roles. Parents
were not able to attend social activities to a level previously enjoyed.
The parent had to be more cautious in their interaction with others and
PCD caring instructions prevented participation in social activities.

Consistent with the experiences of parents caring for children with
other lifetime chronic conditions (Hatzmann et al, 2014) the parent's
vocational role and functioning was often affected. As reported by other
studies (DeRigne \& Porterfield, 2017) it was usually the mother who
experienced changes in work status. In this study the parents often
reported a need for more flexible, less demanding vocational roles.
Families were often financially affected by combined reduction in
working hours, as well as efforts to save for future healthcare
procedures (e.g. fertility treatments).

Most parents felt a constant worry for their child's wellbeing. About 50
percent of the parents reported recurrent feelings of anxiety and
depression and 20 percent of the parents disclosed formal mental health
diagnosis or treatment. Although it seems that a lot of parents
responded emotionally to the caregiving responsibility, the assumed
prevalence of mental health problems from this informal source of
reporting is similar to the existing lifetime mental health prevalence
in the general population (Schaefer et al., 2017). More formal
psychiatric epidemiological testing among caregivers of individuals
living with PCD would be appropriate to determine a more accurate
prevalence of mental health problems among this population.

Limitations

Although we recruited an international, diverse sample of parents caring
for young children diagnosed with PCD, this group of parents might not
be representative of the population of parents caring for young PCD
children as 11 of the 24 participants were recruited from Southampton
Children's Hospital UK, more mothers than fathers participated, and most
participants had a white ethnic background while the prevalence of PCD
is higher in other ethnic groups (O'Callaghan et al, 2010). In addition,
due to the partially retrospective aspect of the project, we cannot
exclude the possibility of recall bias when the parents commented on
historic events.

Practical implications

The findings of this study reveal that lack of awareness of PCD by
clinicians sometimes limits disease management as it impedes GP care,
emergency care, and pharmaceutical care. Due to the rarity of PCD the
symptom pattern is not always recognized early in life, thereby delaying
diagnosis. Over the past decade, diagnostic awareness campaigns have
been able to lower the age of diagnosis of this rare hereditary chronic
condition in some countries. It would be prudent to extend these
awareness campaigns and improve the knowledge of health care providers
about PCD and other rare diseases.

The impact of PCD care on the parent can be overwhelming at times. It
induces time constraints and requires not only physical but also
emotional efforts. The mental health and resilience of caregivers is
important to the quality of care provided. Parents of children living
with PCD are often unable to get a regular break from their caring
responsibilities. Caregiver burden might be eased and more personalized
care provided if PCD health care was integrated with social care,
coordinating health care services with support for tasks of daily living
and engagement with local community (Stein, 2001). Currently PCD
services are geared towards providing appropriate services to cover the
child's PCD medical needs, but some parents reported a need for respite
care; support with practical implementation of PCD management at home;
caregiver appreciation; financial advice and support; awareness of
community resources. A more holistic PCD care is responsive to meet not
only the health care needs but also cover the social care needs of the
family living with PCD.

Conclusion

This is the first international study' examining the experiences of
parents whose young child has been diagnosed with PCD. The findings from
this study can be used to advise clinical practice in the holistic
management of the child's care. To end with these words from one of the
parents:

\emph{on the positive side it's changed my view of life, I'm much more
kind of, I appreciate him, I appreciate every, every second of his life
and um much more and I'm much more in wonder I think of him. So I think
there are real positives. And I couldn't love him any more, because you
just love them so much because you want them to be well and you know you
want them to, yeah I mean it's a real kind of protective instinct that
takes over, but it's got a real positive side, I think if you want it to
it can have a real positive side to it (mother 18)}

Acknowledgements

We thank the patients and their families for participating in the study.
Our thanks are also extended to PCD centres who recruited parents of
young children diagnosed with PCD and the PCD Support Group UK who
advertised this study on their social media. We like to thank Lynn
Reeves and Samantha Packham for their support to the project management
and administration of this research.

Declarations

Ethical approval

Ethical approval for the work presented in this manuscript was obtained
from Southampton and South West Hants Research Ethics Committee (REC -
06/Q1702/109; with University of Southampton (ERGO\#53155).S Approval
was also obtained in United States of America from the University of
North Carolina Internal Review Board (IRB\#09-1099), and in Canada from
Hospital for Sick Children Research Ethics Board (REB\#1000024263).

The work has therefore been performed in accordance with the ethical
standards laid down in the 1964 Declaration of Helsinki and its later
amendments.

Consent for publication

Written consent from all individuals participating in this study has
been obtained.

Competing interest

On behalf of all authors, the corresponding author states that there are
no competing interests to declare.

Funding Statement

This study/project is funded by the National Institute for Health
Research (NIHR) Research for Patient Benefit programme (NIHR 200470).
The views expressed are those of the authors and not necessarily those
of the NIHR or the Department of Health and Social Care. The UK National
PCD Service is commissioned and funded by NHS England. PCD research in
Southampton is supported by NIHR Southampton Respiratory Biomedical
Research Unit and NIHR Wellcome Trust Clinical Research Facility.

Author Contributions

JSL and LB conceived and designed the study, secured funding and co-lead
the governance of the study. CD developed the interview guide with LB
and JSL, and led data collection, analysis, and drafting of this
manuscript. LB assisted in data collection and analysis. RK provided
qualitative research expertise. WW AH JSL SC SD MS ML KS LS ER MN
provided guidance on clinical/demographic data collection forms,
recruited the participants and provided clinical data. FC, LD, and EC
supported participant recruited and guided the study with their lived
experiences. BF, MT, and NT provided guidance on clinical/demographic
data collection forms and guided the study with their lived experiences.
All authors contributed in writing this paper and approved the final
version.

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Table 1: Child characteristics\selectlanguage{english}
\begin{longtable}[]{@{}ll@{}}
\toprule
& N=20 (\%)\tabularnewline
\midrule
\endhead
Gender \emph{Male} \emph{Female} & 14 (70\%) 6 (30\%)\tabularnewline
Ethnicity \emph{White} \emph{Asian} \emph{Other} & 15 (75\%) 3 (15\%) 2
(10\%)\tabularnewline
Ages \emph{1 year} \emph{2 years} \emph{3 years} \emph{4 years} \emph{5
years} & 2 (10\%) 4 (20\%) 3 (15\%) 5 (25\%) 6 (30\%)\tabularnewline
Birth order of child \emph{First} \emph{Second} \emph{Third}
\emph{Fifth} & 8 (40\%) 9 (45\%) 2 (10\%) 1 (5\%)\tabularnewline
Siblings with PCD \emph{None} \emph{Younger} \emph{Older} \emph{Missing}
& 7 (35\%) 1 (5\%) 5 (25\%) 7 (35\%)\tabularnewline
Sibling without PCD \emph{None} \emph{Younger} \emph{Older}
\emph{Missing} & 8 (40\%) 0 (0\%) 8 (40\%) 4 (20\%)\tabularnewline
Situs abnormalities & 10 (50\%)\tabularnewline
Prophylactic antibiotics & 7 (35\%)\tabularnewline
Respiratory infection(s) in past year & 19 (95\%)\tabularnewline
Hospital Admissions in past year & 6 (30\%)\tabularnewline
\bottomrule
\end{longtable}

Table 2: Thematic framework\selectlanguage{english}
\begin{longtable}[]{@{}llllll@{}}
\toprule
\begin{minipage}[b]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[b]{0.14\columnwidth}\raggedright\strut
\textbf{Parent's reaction to :}\strut
\end{minipage} & \begin{minipage}[b]{0.14\columnwidth}\raggedright\strut
\textbf{Parent's reaction to :}\strut
\end{minipage} & \begin{minipage}[b]{0.14\columnwidth}\raggedright\strut
\textbf{Parent's reaction to :}\strut
\end{minipage} & \begin{minipage}[b]{0.14\columnwidth}\raggedright\strut
\textbf{Parental:}\strut
\end{minipage} & \begin{minipage}[b]{0.14\columnwidth}\raggedright\strut
\textbf{Parental:}\strut
\end{minipage}\tabularnewline
\midrule
\endhead
\begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\textbf{Major Themes:}\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
PCD diagnosis child\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Treatment regiment child\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Health status child\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Coping\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Concerns for future\strut
\end{minipage}\tabularnewline
\begin{minipage}[t]{0.16\columnwidth}\raggedright\strut
\textbf{Sub-Themes:}\strut
\end{minipage} & \begin{minipage}[t]{0.16\columnwidth}\raggedright\strut
Prenatal experiences\strut
\end{minipage} & \begin{minipage}[t]{0.16\columnwidth}\raggedright\strut
Daily treatment: Management Parent-child interaction Emotional impact on
parents\strut
\end{minipage} & \begin{minipage}[t]{0.16\columnwidth}\raggedright\strut
Emotional\strut
\end{minipage} & \begin{minipage}[t]{0.16\columnwidth}\raggedright\strut
Support seeking\strut
\end{minipage} & \begin{minipage}[t]{0.16\columnwidth}\raggedright\strut
Explaining PCD\strut
\end{minipage}\tabularnewline
\begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Feelings before\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Medical procedures and medication\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Health\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Problem-focused\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Social/emotional impact PCD\strut
\end{minipage}\tabularnewline
\begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Feelings after\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Outpatient appointments\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Behavioural\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Emotional-focused\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Progression PCD\strut
\end{minipage}\tabularnewline
\begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Hospitalization\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Vocational\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Cognitive adaptive\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Impact PCD on development, social activities, career goals\strut
\end{minipage}\tabularnewline
\begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Family goals\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Impact PCD on fertility\strut
\end{minipage}\tabularnewline
\begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Social\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
\strut
\end{minipage} & \begin{minipage}[t]{0.14\columnwidth}\raggedright\strut
Ability child to manage PCD\strut
\end{minipage}\tabularnewline
\bottomrule
\end{longtable}

Appendix 1

\emph{Interview guide for development of HRQoL questionnaire:
QOL-PCD\textsuperscript{PR}}

The interviews will be conducted in a semi-structured way. The questions
below are meant to serve as a guide; the researcher will adapt each
interview according to the relevance of the different section to the
interviewee. The sections in red will only be asked if there is time.

\emph{Introduction}

Thank you very much for agreeing to participate in this study.

As mentioned in the Participant Information Sheet, this interview is to
help us to understand how your child's PCD effects them, and you. This
information will be used for the development of a questionnaire which
can be used in clinics or research to monitor how PCD is effecting your
quality of life. The interview is being recorded but the recording will
be kept confidential, we won't feed anything back to your medical team
or anyone else, and you won't be identified in any reports or
presentations. Before we go further please can you let me know if you
have any questions about the research?

\emph{Once any questions are answered,} You have previously signed a
consent form for this study, please can you confirm that you are still
happy to participate, and that you are happy to be recorded?

The interview will take roughly an hour so I would like to confirm with
you that we do have sufficient time for this. Obviously if you would
like to stop at any time please let me know and we can stop, or arrange
a convenient time to resume the interview, whichever you prefer.

Do you have any (further) questions for me before we start?

\emph{General}

Tell me about what is it like for you having a child with PCD?

What is it like for your child having PCD?

\emph{Diagnosis}

\begin{itemize}
\tightlist
\item
  When did you first recognise your child was experiencing symptoms
  caused by PCD?
\item
  Can you tell me about how your child was diagnosed?
\item
  What words best describe what you felt like before your child was
  diagnosed?
\item
  What words best described what you felt like when you heard the
  diagnosis?
\item
  What was your response when you learned your child's diagnosis?
\end{itemize}

\emph{Additional questions}

Did having a diagnosis to explain your child's symptoms change things?

Has your life changed since having a child with PCD?

\emph{Symptoms}

\begin{itemize}
\tightlist
\item
  Can you tell me about what symptoms your child experiences on a day to
  day basis?
\item
  How do you monitor your child's PCD signs and symptoms?
\item
  How do these symptoms affect your child on a daily
  basis?\emph{(Prompt: cover physical, emotional and social
  functioning)}
\item
  How does your child experiencing these symptoms affect you on a daily
  basis?
\end{itemize}

\emph{Treatment burden}

\begin{itemize}
\tightlist
\item
  What type of things are you doing for your child's PCD care?
\item
  How do you incorporate your child's treatment regimen in your daily
  life?
\item
  How does the treatment regimen affect your child?
\item
  When planning things like holidays or family activities are there
  things that have to be considered because of your child's PCD?
\end{itemize}

\textbf{Additional questions}

Did you make any changes to family life to accommodate your child's
treatment?

\emph{Care received}

\begin{itemize}
\tightlist
\item
  Can you talk about your child medical care?
\item
  How do you feel your child treatment is going?
\item
  Do you feel like you are being involved in the decisions that are
  being made about your son's/daughter's care and can communicate your
  concerns to the clinical staff?
\item
  What words best describe what you feel like when your child is not
  feeling well or even has to be hospitalized? What has helped you deal
  with this?
\item
  Have you ever had to calm your child for medical care or treatment?
  How did that make you feel?
\end{itemize}

\emph{Additional questions}

\begin{itemize}
\tightlist
\item
  How do you make sure your child does his/her treatment as prescribed?
\item
  Do you feel the clinical staff listens to what you have to say and
  understands what you are saying?
\item
  Do you feel you can communicate new signs and symptoms of PCD
  effectively to the clinical staff?
\item
  Do you feel you know as much as you want to know about PCD and the
  treatment for your child? Do you feel the clinical staff provides you
  with the information you are looking for?
\end{itemize}

\emph{Social Functioning and Role}

\begin{itemize}
\tightlist
\item
  Do you believe you have changed now that you are caring for a child
  with a chronic illness?
\item
  How has having a child with PCD impacted on your relationships with
  others?\emph{(Prompt: address family, friends, spouse, children and
  colleagues)}
\item
  Has having a child with PCD lead to new relationships in your life?
\item
  How has having a child with PCD impacted on your personal, family or
  career goals?\emph{(Prompt: does your child's chronic illness create
  any financial concerns in the family (e.g. travel costs to hospital;
  care arrangements siblings; cost special food or things; trouble
  maintaining employment?)}
\item
  Do you feel like extended family members and the community understand
  what PCD is and what you as a family are going through?
\item
  Do you feel like your child's PCD has an impact on your child in terms
  of his or her development?\emph{(Prompt: Address physical, emotional
  and social functioning. Under social functioning address relationships
  with family members i.e. siblings, and those outside of the home)}
\end{itemize}

\emph{Additional questions}

Do you discuss your child's medical condition openly with them? Do you
feel that you can explain it to them in a way that they can understand
it? What is it like for you when you have to talk to your child about
PCD, their treatment, going to the hospital, the side-effects they are
experiencing, etc?)

\emph{Emotional functioning}

What words best describe what you feel like now in the current
situation?

How does PCD affect your child emotionally at the motherent? How has it
impacted him or her in the past?

\emph{Concerns about the future}

Do you have any concerns about your child's future?

\emph{Additional sections}

\emph{Coping}

Some people caring for a child with a long-term condition have said
there are times when they wondered how they would manage with the
situation, have you ever felt this? If yes how did you deal with this?
What things were helpful at that time?

\emph{Transitions}

Every parent has to get used to leaving their child in someone else's
care.

Have you left your child in other people's care (address partner, family
member/friend, school/daycare)

What do you feel when you leave them in other people's care (if worried
ask what they are worried about)

\selectlanguage{english}
\FloatBarrier
\end{document}

