‘It would be much easier if we were just quiet and disappeared’: Parents silenced in the experience of caring for children with rare diseases

Abstract Background Parent experiences of caring for children with neurodevelopmental disease have been silenced and constrained by social, political and health influences. There is a need to co‐construct new meanings and interpretations of parenting a child with complex disabilities by having an increased understanding of the struggles and barriers for parents. Methods A hermeneutic phenomenology approach was applied in this inquiry. Fifteen parents of children with rare neurodevelopmental diseases participated in semi‐structured interviews. Results Parents experienced silencing or being silenced within interactions with health‐care and social care systems and providers. Interpretive thematic analysis revealed three insights: (a) parents experience a sense of disconnect and silencing as little is known or understood by health‐care providers about the experience of caring for children at home; (b) parents make strong efforts to be heard and acquire services within health and social systems as fighters, saviours and navigators; and (c) parents sacrifice themselves to the caregiving role and become therapists and caregivers to their medically fragile children at the cost of losing themselves as parents. Conclusion An understanding of parents’ experiences in caring for a child with a rare neurodevelopmental disease may provide insight to systemic health and social support challenges faced by families and mitigate appropriate and supportive policies and services.

(HcPs) and the community at large, often leading to the silencing of these multivocal experiences. 1,2 Unsilencing and illuminating parent voices and experiences can increase insights into, and understanding of the challenges of living with complex disabilities. Providing this 'insider view' may cultivate health-care and social care practices and policies that are informed by understanding actual experiences, perceptions of parents, and parents' own personal and practical knowledge 3 when caring for children with NDDs.

| BACKG ROU N D
In this literature review, the first section addresses rare diseases, specifically NDDs; the second section explores parents' experience in caring for children with complex diseases; and the third section describes social constructs of parenting, particularly constructs influencing expression of parent care experiences. Together, these provide some of the main considerations that shape this proposed inquiry.
Rare diseases disproportionately impact more children than adults and can lead to premature death 4 ; 80% of rare diseases are caused by genetic changes. 4 Contained within the rare disease classification are genetic NDDs that influence the development and function of the brain and other body systems due to mutation in a single gene or multiple genes. 5 Many rare NDDs cause substantial disabilities for children in multiple arenas with cognitive impairment, growth and development delays, physical disabilities, severe neurobehavioural issues and social impairments. 6 The burden of care placed on parents is significant in meeting these complex challenges, 7 and these experiences have been underexplored by health systems and providers. 1,2,8,9 Narratives from parents with children with disabilities have remained at the edge of larger medical and social systems, potentially contributing to parental needs being taken for granted and remaining unaddressed. [10][11][12] Parents must become expert care providers addressing pervasive health and social needs, navigating fragmented discoordinated care within health-care and government support systems, while carrying a heavy burden of care. 13 Within the finite studies of parent experiences in caring for children with medical complexity, parents describe carrying significant emotional and social responsibility when caring for their children because of overwhelming circumstances and struggles. [13][14][15][16] Parents express being stressed, overwhelmed and overextended with providing care at home where similar care within hospital settings required highly specialized providers. 11,17 Even with intensive care needs, parents do not receive the supports and services they require to meet their children's complex care needs. 12,17 This lack of responsiveness may be related to social, historical, cultural and medical expectations of parents and resulting social narratives. 18,19 In particular, parental experiences of caring for children with rare complex diseases do not resonate within socially constructed discourses of parenthood and thus remain unstoried. 11,19 The social constructs of embodied mother, 'good mother', and resilience associated with disabilities may possibly contribute to suppressing and diminishing parent experiences. Mothers typically are more responsible for managing the daily medical and social care needs of children with rare diseases; therefore, literature focusing on social expectations for mothering is important to include here. 7 The concept of the 'embodied mother' merges the experience of the disabled child with the mother's physical and social body as the mother navigates through social structures. 20 Mothers become part of their children's intimate vulnerable spaces and are indeed silenced. In this way, the mother too can become disabled as 'witness and participant' 20 experiencing the public landscape of the disabled child. Glenn also speaks to social silencing as a power discourse within patriarchal systems that disempowers mother and parent voices. 21 Carpenter and Austin extend this understanding, stating mothers' experiences have been unvoiced and unstoried by HcPs when their identities and personhood become fused with those of their children as they struggle to meet their children's health and social needs. 11 This muting contributes to mothers feeling diminished and 'disabled' as parents and caregivers. 11 Another social construct within the literature affecting care providers' response to parents, primarily mothers, includes ideologies of the 'good mother'. 22 Dominant constructs that focus on the mother within the family create and sustain unrealistic expectations for parenting behaviours. Good mothers are nurturing, and selfless while providing unconditional love 22 ; are devoted to their children; and seek needed resources for their children. 23,24 The literature reveals there are even higher expectations within society for mothers caring for children with disabilities. Mothers are to be selfless, self-sacrificing, emotionally compassionate, patient, resilient, resourceful, selfdirected, problem solvers, find meaning in difficult situations, and be hyperresponsive and hyper-responsible. 19,25,26 Elaborating further on parents' experience with caring for children with complex care needs, researchers historically display loss and grief as an overwhelming experience with little recovery. Studies are grounded in loss of the 'typical' child. 27 Recently, authors have shifted to parental models of acceptance and resilience in the face of adversity. 28,29 This concept of resilience suggests adaptation, transformation, and eventual growth and transcendence for families. 30,31 The literature suggests an expectation of recovery and moving on from difficult life circumstances and struggle.
In summary, these social constructs may not provide insight into the experience of caring for children who require intensive intervention and management. Complex, struggling or overwhelming parenting experiences are not always coherent or recognized within these social constructs, and parent experiences may be constrained and silenced by larger influences and thus remain 'un-

| Methodology
Hermeneutic phenomenological inquiry was chosen for this research study as its philosophical beliefs increase understanding of what has been silenced or unstoried within the parent experience. 32 Within hermeneutic phenomenology, narratives are constructed to honour the historical, cultural, political, relational and contextual understandings of experiences and the generative and additive effects of individual or social influences. 33,34 The goal of hermeneutic phenomenology was to understand the meanings associated with parents' everyday experiences in caring for children with rare NDDs.

| Inclusion criteria
Eligibility for the study involved meeting the definition of a rare disease as set by Rare Disease Foundation of Canada with parents whose children had a rare NDD (defined as having a prevalence of below 1 in 2000 live births). 35

| Recruitment
Fifteen parents (11 mothers and 4 fathers) were recruited for the study using purposive sampling. 36 Parents were recruited from medical genetic, endocrine, and neuropsychiatry clinics and self-referrals from parent support groups within several Western Canadian hospitals. While the sample size was small, it was typical for this type of inquiry. 37 Adequacy of the sample was achieved when the interpretation expanded understanding. 38

| Participants
Parents were 30-45 years of age with children 11 years of age and younger, diagnosed with rare NDDs within 2 years of birth. Parents had high school education with the majority having several years of post-secondary education. Fourteen of the parents were living with a partner; one was a single parent because of divorce. Four of the participants were married to each other and were interviewed separately. Parents had middle to higher income status, with nine mothers and all fathers employed in either part time or full-time employment. Five of the parents lived in rural settings. See Table 1:

| Data collection
Interviews were conducted from June 2016 to November 2016 in two urban centres as well as several rural areas in Western Canada.
The setting for the interviews was negotiated with the participants.
One participant chose to be interviewed at a private work setting; all other participants elected to be interviewed in their own homes.
Prior to commencing the semi-structured interviews, human research ethics approval was received for this research project. Due to the sensitive nature of the narratives, the researchers worked closely with participants to attend vulnerability with disclosure. In-depth, face-to-face interviews lasted from 45 to 120 minutes to promote engagement with participants and provide ample opportunity for Note: No detailed demographic information has been provided, so as to protect the personal identity of the participants. parents to describe their perceptions. All interviews were recorded and transcribed verbatim. Researchers checked the transcripts for accuracy before analysis.

| Data analysis and rigour
Researchers read, reflected, interpreted and re-read the data (interviews transcripts and interpretive notes) individually as well as collectively multiple times 39 to bring forth impressions, alternative explanations, divergent patterns, and insights from the narratives and interpretive notes to generate increased understanding. 40,41 The use of questions, reflections and understanding through interpretations revealed complexities caring for children with rare NDDs.
Insights were constructed to uncover the parents' experience. 39

| FINDING S
We explored parents' daily experiences of caring for children with

| Disconnect: '…And They Talk to You Like They Have Never Met You'
Parents shared the experience of caring for children with rare diseases has rarely been sought by HcPs. and occasionally complain about behavior. Otherwise known as "fighting for your kids because no one else will"' (Josh). Another parent said, 'You have to get into the mama bear mode when it isn't necessarily natural when you are trying to be nurturing and caring. Then you have to switch over and take on a more forceful role' (Maya).
The same parent exposed a strong effort to get services: 'We have knocked on doors of offices and were told we weren't invited, that we needed an appointment. Sat in emergency and told to go home but we said no and sat there until we saw someone. It's exhausting and takes lots of time and effort' (Maya).
When a parent was asked if anyone from the health-care team listened to her, she replied with conviction, 'Yes, because I've made myself heard. I don't think that they listen, but I kept shouting, being that annoying person who continuously calls.… We follow up and send emails and make phone calls and we don't get missed anymore' (Maya).
Another parent said, 'They're calling for a neurology consult, and nobody showed up. I began screaming and said, 'Does it take brain damage before a neurologist shows up?' We got a neurologist that day to show up' (Josh). These narratives spoke to the necessity to be heard.

| Self-Sacrifice: 'You are Never Off Duty'
Parents revealed functioning within unrecognized roles as primary therapist and caregivers while addressing their children's care needs. Hypervigilance led parents to uncover any medical and social supports while managing daily care needs: 'It has been a lot of finding our own information, finding those answers and being overly cautious for everything that is happening' (Wendy). This hypervigilance brought feelings of helplessness and vulnerability at great personal cost: 'You are on all the time. I think the nature of parenting kids with special needs, you are so tired, and feel do much older than you are' (Kim).
One of the sacrifices for parents was opening their homes to support workers on a daily basis. Although parents valued the support and help they were receiving for their children, they also expressed the invasion of privacy and loss of boundaries within private spheres: 'I appreciate the help, but I don't want someone in my house' (Wendy).
Parents expressed lack of privateness from therapists and support  Validating others' experiences provides an openness to difference, unfamiliarity and a genuine questioning of one's own assumptions and beliefs. 35 White in his research on adult caregivers expressed the need to break the silence on difficulties and challenges with the caregiving experience: 'When we begin naming our experiences as real, we bring our everyday challenges out of the shadows and into full light to be noticed and appreciated and valued'. 58  With the multitude of providers, parents felt silenced when they were not considered as part of the plan of care. Parents described amplifying their voices to get needed supports and described this struggle using raw primordial language. Optimizing family functioning must include unsilencing family narratives and amplifying parent experiences as story-worthy. Barnert

| S TRENG TH S AND LIMITATI ON S
This study focused on the lived experiences of parents of caring for children with rare NDDs. The researchers interviewed parent participants and did not submit transcripts to participants for member checking, as is congruent with hermeneutic phenomenology. 66 The researchers, however, did present the findings to stakeholders (including parents within local rare disease groups and HcPs), who acknowledged that the study outcomes aligned with their lived experiences. More research in this area will expand on parents' experiences of caring for children with rare diseases.

ACK N OWLED G EM ENTS
We would like to acknowledge parents who participated in our study.
We would also like to thank the staff who supported this study from Alberta Health Services in Calgary and Edmonton, Alberta. Finally we would like to thank our research team for their contributions to our study.

CO N FLI C T O F I NTE R E S T
There are no conflicts of interest to declare.

DATA AVA I L A B I L I T Y S TAT E M E N T
The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.