Parent Experiences and Preferences When Dysmelia Is Identified During the Prenatal and Perinatal Periods: A Qualitative Study Into Family Nursing Care for Rare Diseases

Article (PDF Available)inJournal of Family Nursing 24(2) · January 2018with 88 Reads
DOI: 10.1177/1074840718772808
Abstract
Several rare diseases are regularly identified during the prenatal and perinatal periods, including dysmelia. How these are communicated to parents has a marked emotional impact, but minimal research has investigated this. The purpose of this study was to explore parent experiences and preferences when their baby was diagnosed with dysmelia.Twenty mothers and fathers were interviewed. Data was analyzed using thematic analysis. The overriding emotion parents experienced was shock, but the extent of this was influenced by several factors including their previous experience of disability. Four key needs of parents were identified, including the need for signposting to peer support organizations, for information, for sensitive communication, and for a plan regarding their child’s care. Parents wanted immediate information provision and signposting to peer support, and for discussions regarding possible causes of the dysmelia or termination (in the case of prenatal identification) to be delayed until they had processed the news.
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PUBLISHED IN JOURNAL OF FAMILY NURSING
http://journals.sagepub.com/doi/full/10.1177/1074840718772808
Parent Experiences and Preferences when Dysemlia is Identified During the Prenatal
and Perinatal Periods: A Qualitative Study into Family Nursing Care for Rare Diseases
Judith Johnson, PhD, ClinPsyD
Lecturer, School of Psychology
University of Leeds
and
Lecturer, Bradford Institute for Health Research
Bradford Royal Infirmary
Olivia Johnson, BSc(Hons)
Support Worker, Cygnet Hospital
Bullet Street, Bury
Jane Heyhoe, PhD
Senior Research Fellow, Bradford Institute for Health Research
Bradford Royal Infirmary
Charlotte Fielder
Patron, European Dysmelia Reference and Information Centre
Assembly Member at NCVO (National Council For Voluntary Organizations)
Alice Dunning, BSc(Hons)
Doctoral Student, School of Psychology
University of Leeds
and
Doctoral Student, Bradford Institute for Health Research
Bradford Royal Infirmary
Keywords: family-centered care, communication, dysmelia, rare diseases, parents, family
nursing
Abstract
Several rare diseases are regularly identified during the prenatal and perinatal periods,
including dysmelia. How these are communicated to parents has a marked emotional
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impact, but minimal research has investigated this. The purpose of this study was to explore
parent experiences and preferences when their baby was diagnosed with dysmelia.Twenty
mothers and fathers were interviewed. Data was analyzed using thematic analysis. The
overriding emotion parents experienced was shock, but the extent of this was influenced by
several factors including their previous experience of disability. Four key needs of parents
were identified, including the need for signposting to peer support organizations, for
information, for sensitive communication, and for a plan regarding their child’s care. Parents
wanted immediate information provision and signposting to peer support, and for discussions
regarding possible causes of the dysmelia or termination (in the case of prenatal
identification) to be delayed until they had processed the news.
Funding Acknowledgements: The research was supported by the NIHR CLAHRC
Yorkshire and Humber: www.clahrc-yh.nihr.ac.uk. The views expressed are those of the
authors, and not necessarily those of the NHS, the NIHR or the Department of Health.
(Reference: NIHR IS-CLA-0113-10020).
Declaration of Conflicting Interests: The authors declare that there is no conflict of
interest.
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Introduction
Rare diseases are defined as those which affect less than 1 in 2000 people (Eurodis,
2014). However, between 5000 and 8000 rare diseases exist (Eurodis, 2014) and it is
estimated that 1 in 17 people will be affected by one of these during their lifetime
(RareDiseaseUK, 2017). Several rare diseases including Fragile X, Duchenne Muscular
Dystrophy, Phenylketonuria, and congenital hypothyroidism are regularly identified during
the prenatal and perinatal periods. Depending upon the type of disease, these can be
diagnosed via prenatal testing or may be identified in the postnatal period via newborn blood
spot screening or clinical observations.
Dysmelia is group of rare diseases where the distinguishing feature is congenital limb
reductions, which is regularly identified during the prenatal and perinatal periods. Dysmelia
occurs in 6-8 in 10,000 births (Gold, Westgate, & Holmes, 2011; McGuirk, Westgate, &
Holmes, 2001) and is diagnosed by ultrasound scan in around 30-50% of cases (Holder-
Espinasse et al., 2004; Johnson et al., 2016). Most individuals with dysmelia have only one
only affected limb; upper limb differences are more common than lower limb differences and
the pattern of the limb deficiency is not usually symmetrical (McGuirk et al., 2001). In rare
cases there is a complete absence of a limb; more commonly part of a limb or the digits are
affected (Gold et al., 2011). Caring for a child with a limb difference may require families to
make practical adaptations, for example considering prostheses or adapted furniture, cutlery,
or other specialized equipment. It can also carry an emotional and psychological impact, and
feelings of isolation are common (Kerr & McIntosh, 2000). While the genetic contribution to
some rare diseases is clear, the causes of dysmelia are heterogeneous, including fetal
constraint, vascular disruption, chromosome abnormalities, and teratogens (e.g.,
Thalidomide) (Chen, 2006).
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Parent experiences of healthcare provision and staff communication when any fetal
anomaly or birth defect is identified can have a profound emotional impact, with negative
experiences contributing to heightened stress (Askelsdóttir, Conroy, & Rempel, 2008;
Fleming, Knafl, & Van Riper, 2017). Parent preferences for care at this time include the use
of clear but sensitive language by healthcare providers (Asplin, Wessel, Marions, & Öhman,
2012; Lalor, Devane, & Begley, 2007); receiving verbal and written information about the
abnormality (Alkazaleh et al., 2004; Asplin et al., 2012; Lalor, Begley, & Galavan, 2008); and
experiencing minimal delays between identification of the initial problem and the
communication of this to parents (Alkazaleh et al., 2004). However, services often fail to
deliver this and parents frequently report experiencing delays (Askelsdóttir et al., 2008;
Mitchell, 2004; Van der Zalm & Byrne, 2006); confusing information (Asplin et al., 2012;
Oscarsson, Gottvall, & Swahnberg, 2015); insensitive language from staff (Fleming et al.,
2017; Mitchell, 2004); and feeling unsupported (McKechnie, Pridham, & Tluczek, 2016).
The majority of research into parent experiences of diagnosis during the prenatal and
perinatal periods has focused on abnormalities which occur more commonly, and there is a
lack of research into experiences of rare disease diagnosis. Understanding this is important
as communicating news of a rare disease can be particularly challenging; specialist
knowledge about these abnormalities is rarely available in local services and healthcare
providers may struggle to know how to communicate a diagnosis which they feel under-
informed about (Andrews, Williams, VandeCreek, & Allen, 2009). This can cause anxiety in
healthcare providers (Simpson & Bor, 2001) and amplify parental stress (Andrews et al.,
2009). It can also hinder parental decision making and care-giving. In the case of dysmelia,
prenatal identification may require expectant parents to make life-changing decisions around
whether to receive invasive testing or a termination, and 20-50% of pregnancies where
dysmelia is identified are terminated (Gold et al., 2011; Holder-Espinasse et al., 2004;
McGuirk et al., 2001). Postnatal identification requires parents to provide appropriate care for
a child with a disability without any time for information gathering or preparation. Improving
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healthcare provision at the point of diagnosis is of key importance to ensuring parents are
supported with these challenges, but minimal research has investigated this.
Of the studies which have been conducted in parents of children with dysmelia, it is
clear peer support groups are highly valued and parents appreciate being given contact
information for these organizations, or ‘signposted’ to them (Johnson et al., 2016; Kerr &
McIntosh, 2000). However, no study has provided an in-depth understanding of parents’
initial experiences and preferences for communication of a dysmelia diagnosis, whether
these vary when diagnosis is made in prenatal services compared to postnatal services, and
whether fathers describe different experiences and preferences to mothers. Such
information is imperative for family nurses working with childbearing families; it can help
nurses anticipate stressors these families and families receiving other rare diagnoses may
experience, and enable the identification of resources which may be beneficial for them
(Veltri, Wilson-Mitchell, & Bell, 2015). It can also inform the practice of family nurses involved
in the communication of rare diagnoses or the facilitation of therapeutic conversations in this
context to support and promote family relationships (Bell, 2016). Concomitantly, recent
research suggests that most parents continue to be dissatisfied with the care they receive at
this time (Johnson et al., 2016). The way in which diagnoses are communicated during the
prenatal and perinatal periods can have a lasting emotional impact (Chaplin, Schweitzer, &
Perkoulidis, 2005), and as such there is a need to provide healthcare staff with
recommendations for how to approach this important aspect of healthcare. This study sought
to address these issues by conducting one-to-one semi-structured interviews to explore
parent experiences and preferences when their baby was first diagnosed with a limb
difference. Parents were recruited who had learned of their baby’s limb difference during
both the prenatal and postnatal periods.
Methods
This study used qualitative methods to explore parent experiences when their baby
was diagnosed with dysmelia, a group of rare diseases characterised by congenital limb
reductions, and to understand how family focused care for these families could be improved.
Participants and Recruitment
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We recruited mothers and fathers of children with dysmelia who were aged 5 or
under. These parents were based in the United Kingdom and were recruited via a purposeful
sampling method. Parents responded to study advertisements which were distributed via
third sector organizations for families with children with dysmelia (e.g., Reach) and social
media (Twitter and Facebook). Recruitment continued until data saturation was reached.
Research Design
A semi-structured interview schedule was developed, consisting of open-ended
questions with additional probe questions. The interview schedule focused on three areas:
parents’ general experiences of being informed their baby had dysmelia; their experiences of
information received at diagnosis and feelings of preparedness when their babies were born;
and improvements which parents believe could have been made to the practices of
communicating the diagnosis. Semi-structured interviews were chosen in order to facilitate
an open dialogue with parents while eliciting information relevant to the study aims.
Interviews were conducted by researchers AD, OJ, and JJ and the guide was piloted during
two mock interviews with JH and CF. CF has lived experience of dysmelia and has
experience of interviewing parents of children with dysmelia in non-research settings. These
pilot interviews were used to refine the fluency of the topic guide.
Data Collection
Interviews were conducted via telephone between November 2016 and March 2017.
Telephone interviews were chosen in order to enable access to parents nationwide. As
dysmelia is a rare disease it was predicted it would not be possible to access an adequate
number of parents within a commutable distance. Furthermore, previous research suggests
that telephone interviews result in a similar quantity, depth, and nature of responses as those
gained by face-to-face interviews, and are perceived as more convenient by some research
participants (Sturges & Hanrahan, 2004). Interviews lasted from 25 minutes to 75 minutes
and were audio-recorded and transcribed.
Data Analysis
Thematic analysis was used to analyze the data. This is a flexible approach which
achieves a rich and complex description of the dataset, capturing the most enduring themes
(Braun & Clarke, 2006). Thematic analysis was chosen as it is suitable for gaining an
understanding of parents’ overall experiences and identifying areas for service improvement.
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Our analysis followed the six steps outlined by Braun and Clark (2006). First was
familiarization with the data, where transcribed data were read and re-read, with initial ideas
noted down. Second was generation of initial codes; interesting aspects of the data were
coded systematically across the dataset and data was then organized according to these
codes. This was completed by JJ with all transcripts independently double coded by OJ or
AD and a further 10% of transcripts independently triple coded by JH. During this process,
codes were cross-checked and refined. Third was the collation of codes and the generation
of emergent themes. Fourth was the refinement of themes through meetings held between
researchers (JJ, AO, AD, JH). These checked that themes worked at the level of the
extracted data and the overall data set, and created a thematic map. Fifth was the
agreement of final codes through discussion and consensus (Barbour, 2001), and sixth was
the production of the report and the identification of compelling data extracts for theme
representation (Braun & Clarke, 2006). An essentialist approach to epistemology was used,
whereby data was understood as a means of theorizing motivation, meaning, and
experience. This viewed the lexicon of participants as a direct intention of communicating
experience and its associated meaning.
Ethics
The study was approved by the School of Psychology Ethics Committee at the
University of Leeds, UK (ref no: 16-0278; date approved: 25-10-2016). Parents were
provided with information sheets and asked to return consent forms in a stamped addressed
envelope. Given the sensitive nature of the research, parents were contacted after the
completion of the study in order to ensure they had not experienced any psychological harm
as a result of their participation. No parents reported negative effects of research
participation, but if this had occurred, the researcher would have signposted them to a
relevant support organization.
Results
Participants
A total of 51 parents responded to the advertisements and 23 parents completed
interviews. One interview recording was inaudible and two interviewees were ineligible due
to having a child aged over 5, resulting in a final sample of 20 interviews for analysis. We did
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not ask potential parents who initially expressed interest but did not participate to give a
reason, however, some stated they were unable to participate due to busy schedules. Nine
parents were fathers, 11 were mothers, with a mean age of 35.35 (SD = 4.27). All parents
identified as White British. Parents were located across the United Kingdom, including
Scotland, Wales, northern England, and southern England. No participants were co-parents
with other participants; each participant represented a separate child. Nineteen children
were aged between 1 and 57 months (M = 25.00, SD = 18.51), with the remaining child
unborn at the time of interview. Most children had one affected limb (n = 17; 85%), with the
remaining having two (n = 2; 10%) and four (n = 1; 5%) affected limbs. Children had a range
of specific dysmelia diagnoses, including Amniotic Band Syndrome (n = 3; 15%),
Symbrachydactyly (n = 3; 15%), Poland Syndrome (n = 2; 10%), and Transverse Absence (n
= 1; 5%). The remaining children had received no specific diagnosis (n = 11; 55%). Eight
(40%) children were diagnosed via prenatal ultrasound, with the remaining 12 (60%)
diagnosed at the time of birth.
Thematic Analysis
The thematic analysis resulted in the identification of five themes (see Table 1).
Table 1
Themes, subthemes, descriptions and example quotes.
Themes Description Subthemes Example quote
Influencing
factors
The extent of parents’
shock at the news
depended on a range of
contextual factors.
Timing of
detection
(prenatal vs. at
birth)
“…finding out before helped us cope
because you can just prepare yourself… you
can also prepare your friends and family
around you” (P1; Mother; ultrasound
detection)
The influence
of previous
experiences on
reactions
“I was just really, really terrified because I’d
never been around a disability and I felt…
I’m not equipped for this” (P4; Mother;
ultrasound detection)
Expectations
of the scan or
birth
“… for a long time afterwards watching
programmes like [UK reality television show
about birth]… I remember just being in
absolute tears because… they have these
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amazing birthing experiences and… I felt
very robbed of that” (Mother; P13; Identified
at birth)
The influence
of other
complications
on reactions
“...he was early and it happens but we had
all the stress of that anyway and that was
scary as hell” (Mother, P14; Identified at
birth)
Need for
signposting to
peer support
Peer support
organisatoins provided a
sense of community and
reassurance.
“…it [peer support] makes you feel like
you're not alone. It makes you feel like
others understand” (Mother; P1; ultrasound
detection)
Need for
information
Most parents were keen to
gain as much information
as they could about their
baby’s condition.
“I basically came home and Googled within
an inch of my life after the twenty weeks
scan” (Mother; P4; ultrasound detection)
Need for clear
and sensitive
communication
Parents described the
strong emotional impact of
insensitive comments or
questions.
“…while I was being sewn up on the
operating table he [the doctor] asked me
what medication has been taken, so my first
thought was that this is my fault, and
although I know now that it wasn't that… that
thought is still there, that maybe I have done
something wrong, that I have taken the
wrong thing” (Mother; P13; Identified at birth)
Need for a plan Parents expressed a need
to receive a plan for their
child’s healthcare.
“I just can’t believe that you’re let go from a
hospital with nothing, absolutely nothing, with
a child born with some sort of deformity that
you don’t know what it is, you don’t know
what the diagnosis or prognosis is and you’re
told that you have to wait eight months to
find out any information” (Mother; P11;
Identified at birth)
Influencing factors. Most parents responded to the discovery of their child’s limb
difference with feelings of shock or panic. However, the extent of this depended on a range
of other contextual and situational factors.
Timing of detection. The most prominent influencing factor was the timing of
detection; parents were more likely to be shocked and to describe a range of distressed
emotions when the limb difference was not discovered until birth. Parents whose baby’s limb
difference was identified by ultrasound scan found that this allowed for processing of the
news, emotional preparation for the birth, and meant postnatal care was more likely to be
organized ahead of time.
…finding out before helped us cope because you can just prepare yourself… you
can also prepare your friends and family around you. (P1; Mother; ultrasound
detection)
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Parents whose baby’s limb difference was identified at birth described their shock
being compounded by the stress and exhaustion of the birth process. Furthermore, fathers in
this situation described feeling under more pressure than if it was identified prenatally, as
their partner was recovering from the birth or providing for the immediate care needs of the
baby. This left them to manage and address the news of the limb difference with less
support:
I was concerned about my wife because it was quite a difficult birth and I just went
very cold... I didn’t know how to react - I didn’t know if I should even hold her at
first… but my wife was quite distressed so I was really sort of concentrating on her at
that time. (P17; Father; Identified at birth)
… the mother is feeding and getting used to being a mum for the first time;
meanwhile as a dad I’ve been… trying to find out these other things and then
relaying it back to my wife. (P18; Father; Identified at birth)
The influence of previous experiences on reactions. Parents described how their
previous experiences influenced their reaction to the news. Experience of knowing someone
with a disability was described as a factor which reduced anxiety; conversely, having no
previous experience of disability was described as a factor accentuating feelings of shock
and panic.
I had first-hand experience watching someone with an upper limb difference growing
up… so I saw… that it was absolutely fine and that there was an abundance of
ability. (P2; Mother; ultrasound detection)
I was just really, really terrified because I’d never been around a disability and I felt…
I’m not equipped for this. (P4; Mother; Ultrasound detection)
Some parents thought that having had a previous healthy child increased their
feelings of shock about the news, but most felt this reduced their stress, as they already had
basic knowledge about caring for children:
…if it was your first baby it probably would have been worse…. Your second one is
kind of like oh we’re here again and… you know they’re going to be okay. (P19;
Father, Identified at birth)
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…this is my first child as well… I was not only worrying about what I was going to do
with the hand but how I was going to look after a baby at all. (P4; Mother; Ultrasound
detection)
Expectations of the scan or birth. Some parents described how they had
anticipated their scans or the birth of their child with excitement and had prescribed
expectations about this. Parents who held these expectations said these increased their
sense of shock and sadness when the event did not go as envisaged:
… for a long time afterwards watching programmes like [UK reality television show
about birth]… I remember just being in absolute tears because… they have these
amazing birthing experiences and… I felt very robbed of that. (Mother; P13;
Identified at birth)
The influence of other complications on reactions. Several parents described
their baby’s limb difference as occurring within a context of other stressors, such as
pregnancy problems, fetal health concerns, or other health concerns with their new baby.
When these were present, they compounded the stress parents experienced when their
baby’s limb difference was identified:
...he was early and it happens but we had all the stress of that anyway and that was
scary as hell. (Mother, P14; Identified at birth)
Need for signposting to peer support. News of their child’s limb difference often
engendered a range of negative emotions and worries in parents. They described feeling
worried about their child’s future and the things they may not be able to do, with the most
common concern relating to future bullying. Some parents also described feeling alone in
their problem due to the rare nature of dysmelia, and described feeling ‘different’ from other
parents:
….you start thinking the obvious, ‘oh is he going to get bullied’. (Father, P19;
Identified at birth)
…we didn't do any antenatal classes because I didn't want to be in a room full of
other parents moaning about how sick they were during pregnancy and that's all they
had to deal with. (Mother; P1; Ultrasound detection)
Parents felt a need for reassurance. Most parents said that engaging with peer
support organizations helped to provide this by offering information, a feeling of community,
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and reducing feelings of aloneness. Being able to see older children and adults with limb
differences living full lives reduced their worries about their child’s future:
…it [peer support] makes you feel like you're not alone. It makes you feel like others
understand. (Mother; P1; Ultrasound detection)
…it is reassuring because you can see the other kids [with limb differences]… and
they’re all happy and running around and doing the things that other kids can do.
(Father; P15; Identified at birth)
…once we found the [peer support] organizations we did get quite a lot of
information… they’ve both got Facebook pages so if you’ve ever got any queries,
just post on the page and other people can reply that are in a similar situation.
(Father; P7; Ultrasound detection)
Some parents said that they had initially been ambivalent about engaging with peer
support organizations, either because they did not feel they needed this kind of support, or
because they were afraid being part of these organizations labelled their child as ‘disabled’.
More mothers than fathers initially sought out peer support. However, all parents said any
ambivalence they felt was dispelled upon engaging with these organizations.
…whereas my wife was more looking for support and she found [peer support
organization]...I was like… I don’t know what the need is for it; but then actually
meeting…other families and seeing the other kids interacting together you go
actually yeah it is fantastic support. (Father; P16; Identified at birth)
Most parents found these organizations through their own searching. However, this
usually meant there was a delay, and they would have liked to have been immediately
signposted to these by health professionals:
If I’d have known about [peer support organization] on day one – [if] I’d been given a
leaflet or something and seen the information - I probably would have felt a lot better.
(Mother; P9; Identified at birth)
Need for information. On learning the news of their child’s limb difference, most
parents were keen to gain as much information as they could about the condition. Mothers in
particular described searching online, some intently, to educate themselves as much as
possible:
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I basically came home and Googled within an inch of my life after the twenty weeks
scan. (Mother; P4; Ultrasound detection)
I basically spent the first few weeks of [my daughter’s] life on the internet on my own.
(Mother; P11; Identified at birth)
However, need for information was influenced by personal coping style, and a
minority of parents preferred to process the news slowly:
I would be the one that was on the internet constantly… he [the baby’s father] was
really worried you know but he’d rather not look at stuff because it might accentuate
the worry. (Mother, P11; Identified at birth)
Some parents expressed disappointment regarding the lack of information they
received from health providers. Some parents described having unanswered questions and
feeling that staff did not try hard enough to find answers for them. When staff did not initially
have relevant information, parents felt they should do an internet search to find this:
…where they don’t know a lot about it they should… get information about it. I mean
I’m not a doctor, my wife’s not a doctor and we were able to get information about it
just by going on Google. (Father; P7; Ultrasound detection)
…if you are… a nurse and you saw what had happened… it doesn't take a lot to just
Google and look in their manuals and see what it is and then offer a bit of support.
(Mother; P10; Identified at birth)
In particular, parents expressed a desire for written information, as the shock of the
news often meant they did not have questions until later on, once they had had time to
mentally process the information. Several parents said that even a pamphlet signposting
them to a relevant peer support organization would have been a major improvement:
…even if there was a leaflet in the hospital about limb difference… then you could
look into it yourself. (Father; P20; Identified at birth)
Parents also expressed a desire for receiving balanced information about their child’s
disability. Several parents who had the limb difference identified prenatally felt the
presentation of the information was overly negative:
…it kind of made us feel like we were silly for being so positive…. they kept trying to
bring the negatives… they were constantly pushing our positives away. (Mother; P2;
Ultrasound detection)
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Need for clear and sensitive communication. Several parents acknowledged the
challenge of communicating difficult news, particularly when a condition is rare and
unexpected. However, around half of parents reported experiencing insensitive language or
statements from healthcare providers. These parents said that when this occurred it had a
strong and lasting impact on them. In particular, some parents who discovered the news of
the limb difference at birth were quickly asked questions regarding medication or drugs they
had been taking, or whether they were closely related to their partner. Parents felt the timing
of these questions was inappropriate and said this compounded feelings of guilt they had for
causing their child’s disability which lasted even after they were told by other healthcare staff
they were not responsible for this.
…while I was being sewn up on the operating table he [the doctor] asked me what
medication has been taken, so my first thought was that this is my fault, and although
I know now that it wasn't that… that thought is still there, that maybe I have done
something wrong, that I have taken the wrong thing. (Mother; P13; Identified at birth)
Where the limb difference was identified prenatally, some parents felt the
sonographer avoided communicating this to them by asking them to come back on another
day or bringing another sonographer in to the scan room first to speak with them. In half of
parents where the limb difference was prenatally identified, a second sonographer was
invited in without explanation or introduction. These experiences roused anxiety and
suspicion in parents and led to a negative experience of receiving the news.
Parent: …first of all they invited somebody else into the room and being in healthcare
myself I know that that’s dodgy...
Interviewer: … how did you feel at that at that time?
Parent: Terrified! I think I probably started crying I knew that there was something
wrong. (Mother; P1; Ultrasound detection)
Where the limb difference was not found until birth, most parents identified this
themselves. However, in some cases parents did not see this first and felt that healthcare
providers attempted to conceal this by wrapping the baby in a blanket. In one case, staff did
not comment on the limb difference at all. This avoidance heightened parental distress:
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they didn’t say anything about it… we were just basically handed a child and left to
it… so that’s where our sort of pain started because at that point we didn’t know what
was going on. (Father; P17; Identified at birth)
A large minority of parents said they were first told the news in vague terms, for
example that there was something ‘wrong’ with their baby. When this happened, it
engendered feelings of anxiety and panic. In contrast, when parents were told in simple
terms that their child had a limb difference, this minimized distress:
…the ultrasound sonographer turned to the other one and said ‘yep I think you're
right’, and they said that ‘okay we've detected a problem’ and having had a previous
miscarriage before… I thought the worst, and [then] they said we just can’t see his or
her left hand … and we just went oh okay had a big smile on our face. (Father; P6;
Ultrasound detection)
Some parents commented on the challenge of then communicating the news of their
child’s limb difference to their friends and family:
we didn’t tell people she was born until a day later because we just didn't know what
to say. (Mother; P13; Identified at birth)
Most parents where the limb difference was identified prenatally were unhappy with
the conversations they had with healthcare providers regarding termination. They felt the
timing of this discussion was insensitive, and it was introduced as an option too soon, prior
to the presentation of adequate information about their child’s likely degree of disability.
…maybe just even if they had leaflets about limb deficiencies but they didn’t, it
wasn’t like that, it was just basically ‘your kid is going to be disabled and here are the
options… and you basically have it or you can get rid of it’. (Mother; P5; Ultrasound
detection)
Need for a plan. Most parents described experiencing delays in accessing
appropriate healthcare for their child. The cause of these delays stemmed variously from
delays in referrals being made for them by relevant healthcare providers; long waiting lists to
see specialists; and care being refused to them. Around half of parents described feeling that
the onus to organize their child’s care was on them, with most of these parents describing
accessing appropriate care as a ‘fight’ or a battle’.
I still get upset… because everything’s a massive battle, we don’t get any help even
now… I’m still trying to get him into the limb centre in [hospital name] which I didn’t
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even know about until I joined you know [peer support organization]. (Mother; P5;
Ultrasound detection)
Around half of parents also described experiencing a lack of information sharing
between healthcare professionals (HCPs); for example, they found that their community
HCPs did not know about their baby’s limb difference, which in a few cases resulted in HCPs
making insensitive statements. Usually the failure in information sharing was due to HCPs
not reading information which had been sent to them, rather than a failure in this information
being recorded in the first place.
…when he went for his [hip] operation… the anaesthetist went ‘oh where’s his arm?’
And I went ‘what do you mean where’s his arm he hasn’t got one’ and she went ‘oh
I’m sorry I’ve just never seen one so severe’.. I was like that’s horrible yeah keep
digging… you know what the hell do these people not read the notes? (Mother; P5;
Ultrasound detection)
Parents expressed a desire for more joined-up care between healthcare providers.
Around half of parents said they would have liked to have someone who could act as a
point-of-contact or a care-coordinator for them. Although no children received a care
coordinator, a small number of parents were provided with phone numbers for HCPs they
could contact with any queries about their child’s health. When this occurred, it was viewed
positively and reduced anxiety. In particular, parents expressed a desire for a plan of care for
their child. They were keen to know what intervention options were open to their child as
soon as possible and the timeline on which these would become available. Parents who
were discharged from hospital without knowledge of what the next steps of care were for
their child found waiting to hear about referrals extremely challenging.
I just can’t believe that you’re let go from a hospital with nothing, absolutely nothing,
with a child born with some sort of deformity that you don’t know what it is, you don’t
know what the diagnosis or prognosis is and you’re told that you have to wait eight
months to find out any information. (Mother; P11; Identified at birth)
Parents also expressed a desire to understand the purpose of appointments which
they were offered and tests their child received. Some described finding that appointments
and tests became a ‘burden’ with no apparent purpose; where the purpose of appointments
17
and tests was understood parents felt more confident about their child’s care and
experienced less anxiety in relation to this. They were also more likely to cooperate with
healthcare professionals:
The kind of more common consultants that you just meet sat in a room… I just lost
respect for them and got to the stage where I thought do you know what I don’t even
want to go to the appointments because they are so pointless. (Father; P6;
Ultrasound detection)
Discussion
Minimal research has investigated how news of rare disease diagnoses should be
communicated during the prenatal and perinatal periods, and recent survey research
suggests parents have a poor experience of healthcare at this time (Johnson et al., 2016).
This study used qualitative methods to explore parent experiences when their baby was
diagnosed with dysmelia, a group of rare diseases characterised by congenital limb
reductions, and to understand how this area of healthcare care could be improved.
Consistent with previous research in congenital anomalies (McKechnie et al., 2016), findings
suggested that the overriding emotion parents experienced when hearing the news of their
baby’s limb difference was shock. However, the present study significantly extended this by
identifying that the extent of this shock was influenced by several factors including previous
experience of disability, whether this was their first child and whether the limb difference was
identified by prenatal ultrasound or after birth. Findings also significantly added to previous
research in this area by identifying four clear needs of parents at this time, including the
need for signposting to peer support organizations, for information, for sensitive
communication, and for a plan regarding their child’s care.
The present study is the first to qualitatively explore differences in the experiences of
parents when congenital anomalies are identified in the prenatal period compared with after
birth, and helps to explain results from survey research suggesting that parents have a
poorer experience when anomalies are identified at birth than prenatally (Johnson et al.,
2016). When identification was made by ultrasound scan, parents had time to emotionally
prepare for the arrival of their child; some made contact with peer support organizations and
made arrangements for postnatal appointments with specialists. When identification was not
18
until birth, parents received the news when they were exhausted and emotionally vulnerable.
Fathers in particular described finding this timing difficult, as their partner was recovering
from the physical strain of birth or a caesarean section, and they often felt under pressure
and unsupported. Healthcare professionals in these settings were also described as less
prepared; parents more commonly described them as being shocked, avoiding
communicating the diagnosis, and asking insensitive questions relating to the potential
cause of the limb difference.
This study is the first we are aware of which recruited both mothers and fathers about
their experience of communication of a congenital diagnosis, and interviewed these
separately. As discussed above, findings highlighted the differing roles of mothers and
fathers when the limb difference was identified at birth, and suggested that fathers in this
situation may be in particular need of support. Apart from this, few notable differences in
experiences or preferences were found. Mothers more commonly described seeking peer
support organizations than fathers, but the benefits of engaging with these organizations
were equally voiced by both mothers and fathers. Similarly, while more mothers said they
sought information online, both mothers and fathers described a need for information and
were disappointed when this was not forthcoming from healthcare professionals. Instead,
individual differences in coping style emerged as being an important factor in the
experiences and needs of individuals; while some parents had a strong and immediate drive
to gain information, others preferred to process the news slowly and were at risk of feeling
overwhelmed if too much information was presented too quickly. This is consistent with
previous work by Lalor et al. (2008) which found that parents receiving news of a prenatal
diagnosis fall into two main groups of ‘monitors’ and ‘blunters’. An important contribution of
the present study is the finding that both groups appreciated the offer of written information
by healthcare professionals, which met the immediate information needs of ‘monitors’ but
also allowed ‘blunters’ to process this in their own time. Parents acknowledged that in the
case of rare diseases, such information may not be readily available, but were grateful when
healthcare providers searched for information online on their behalf and printed this off.
19
Previous research has stated that sensitive but clear communication is important
when communicating news of a congenital diagnosis (Fleming et al., 2017; Lalor et al.,
2007). The present study extends this by identifying specific ways in which healthcare
providers can communicate news of a rare diagnosis in a way which can minimise shock in
parents. First, where previous guidance for breaking difficult news emphasizes the
importance of delivering a ‘warning shot’ first (Baile et al., 2000), parents in the current study
did not appreciate this and preferred it when the news was communicated directly and
succinctly. They were already alerted to the discovery of something unexpected by the
behaviour of healthcare professionals, and at this point preferred simply to be told, for
example, the sonographer could ‘not see a right hand’. When parents were first told there
was something ‘wrong’, this increased their anxiety and led them to think their baby had died
or had clear systemic health problems. Second, where previous studies have highlighted the
importance of not making insensitive statements (Chaplin et al., 2005; Fleming et al., 2017),
the current study suggests that the impact of insensitive questions can be equally or more
upsetting, and any questions relating to the cause of the limb difference should be delayed
until parents have had time to recover from feelings of shock. Third, the present findings
suggest that when the limb difference is identified prenatally, healthcare providers should not
immediately discuss termination. Several parents were offered a termination before they had
had time to process the news or research the likely implications of this, and found this
distressing. Sensitive communication at this time should focus on information provision and
allow for the processing of this first. Furthermore, the present study found that when news
was communicated succinctly and appropriately, this provided a model for parents when
they were subsequently communicating the diagnosis to their family and friends.
Findings from the study highlight the importance of peer support organizations for
parents of children with dysmelia, supporting previous survey research (Johnson et al.,
2016; Kerr & McIntosh, 2000) and extending this by providing an understanding of the
functions of peer support for this group. First, parents found peer support organizations were
an important source of information and advice about dysmelia, which was lacking in
20
healthcare services. Second, parents said receiving a rare diagnosis made them feel alone
and different; engaging with other families in a similar situation provided a community of
people with a shared experience where they felt understood and comfortable. Third, parents
found that meeting older children and adults with similar disabilities to their own child was
reassuring and addressed worries they held about their child’s future. Parents felt that one
simple improvement healthcare services could make to the practice of communicating news
of a rare disease would be to immediately provide information about such organizations.
Implications for Family Nursing Practice and Future Research
The current study suggests there is a need to improve communication when
dysmelia is diagnosed during the prenatal and perinatal periods. The study significantly
extends previous knowledge in the area of family nursing practice by identifying that
experiences in postnatal services are particularly poor, and contribute to feelings of shock
and distress in parents. However, present findings suggest that the introduction of some
simple specific communication practices could lead to significant improvements in this area.
Parents said their experience could have been improved by being immediately provided with
printed information about dysmelia and the details of peer support organizations at the time
the limb difference was identified. They also said they felt less anxiety when the news of the
limb difference was delivered succinctly and without the preamble that something was
‘wrong’. This is in contrast to existing frameworks for news delivery which emphasize the
importance of delivering a ‘warning shot’ prior to specifying difficult news (Baile et al., 2000),
and demonstrates the need for research into news delivery which explores specific diseases
and situations. Furthermore, the present study suggests that staff working with childbearing
families should delay asking questions about potential causes of the dysmelia or discussing
the option of termination (in the event of prenatal identification) until parents have had time
to recover from the shock of the diagnosis and to consider the potential implications of this.
In identifying the emotional and practical needs of parents at this time, these findings can
support family nurses working with childbearing families to anticipate the likely stressors they
will experience, which include the insensitive communication of the diagnosis, worries for
21
their child’s future wellbeing, and feelings of isolation. They also identify resources which
family nurses can provide for these families, most importantly information surrounding the
diagnosis and contact details for support organizations.
Furthermore, these findings can help family nurses leading brief, time-limited
therapeutic conversations with these families (Wright & Leahey, 2013) to understand how
best to focus these discussions, and highlight the importance of addressing feelings of shock
and normalizing the experience. McKechnie and colleagues (2016) offer an example of the
15-Minute Family Interview (Wright & Leahey, 2013) using a guided-participation approach
for this population of families. In addition, guidelines for family nursing practice are offered by
the International Family Nursing Association (IFNA) for generalist family nursing practice
(2013) and advanced nursing practice with families (2015). These resources may have
relevance for the communication of other rare diseases with parents during the prenatal and
perinatal periods, where similar difficulties are likely to occur.
Future research is needed to develop and adapt existing news delivery interventions
to train staff in the communication of rare diseases during the prenatal and perinatal periods.
A recent meta-analysis suggests such interventions are effective for improving the delivery of
difficult news in other healthcare settings (Johnson & Panagioti, 2018), but present findings
suggest existing frameworks are not appropriate for these situations in their current state.
Recommendations from the current study should be used to inform the development of such
interventions.
Limitations
The study had several strengths, including the inclusion of fathers as well as mothers
and the recruitment of parents with relatively recent experiences (within the last five years).
However, we were unable to recruit parents from non-white ethnic minority backgrounds,
and findings may not generalize to this group. Future research should recruit parents from
these groups as a priority.
Conclusions
Minimal research has investigated the experience of parents when their baby is
diagnosed with a rare disease during the prenatal and perinatal periods. The present study
sought to understand the experiences and preferences of parents when their baby was
22
diagnosed with dysmelia, a group of rare diseases characterized by congenital limb
differences. Consistent with previous research, the overriding emotion described by parents
at this time was shock. However, the present study extended previous research findings by
identifying that the extent of this shock was influenced by previous experiences of disability,
prior pregnancy complications and whether this was their first child. It was also accentuated
when the limb difference was not identified until birth. The present study also extends
existing knowledge in this area by identifying four key needs of parents at this time: the need
for signposting to peer support, the need for information, the need for sensitive
communication, and the need for a plan regarding their baby’s care. Parents wanted
information and signposting to peer support to be provided immediately, and any discussions
regarding potential causes of the limb difference or the possibility of termination (in the case
of prenatal identification) to be delayed until they had had time to process the news and
overcome their shock. More research is needed about the efficacy of family focused
interventions for addressing the needs of parents receiving a diagnosis of a rare disease of a
child.
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  • ... Delivering news in this setting is particularly challenging; expectant parents may view the scan as a primarily social event and expect to receive information about their pregnancy immediately 20 . Furthermore, when expectant parents receive difficult news they go into shock, and may react with anger, silence or extreme demonstrations of sadness 19,21,22 . As sonographers can conduct as many as 26 scans in a day, they may find themselves in these challenging situations multiple times within a single shift. ...
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