Received: 4 December 2018 | Revised: 22 July 2019 | Accepted: 15 August 2019 DOI: 10.1111/hex.12958 ORIG INAL RESE ARCH PAPER ‘It would be much easier if we were just quiet and disappeared’: Parents silenced in the experience of caring for children with rare diseases Genevieve Currie RN, MN, Associate Professor | Joanna Szabo RN PhD, Associate Professor School of Nursing and Midwifery, Faculty of Health, Community and Education, Mount Royal University, Calgary, Alberta, Canada Correspondence Genevieve Currie, School of Nursing and Midwifery, Faculty of Health, Community and Education, Mount Royal University, 4825 Mount Royal Gate S.W., Calgary, Alberta, T3E 6K6 Canada. Email: gcurrie@mtroyal.ca Funding information This study was funded by Mount Royal University Faculty of Health, Community and Education Innovation Fund and Internal Review Grant Fund. The funding bodies were not involved in the design, collection, analysis, and interpretation of data or in the writing of this manuscript. The funds provided were used for operational costs of the project. 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. KEYWORDS caregivers, children, chronic disease, health‐care system, neurodevelopmental disease, parents, rare disease, social care supports 1 | I NTRO D U C TI O N experience of caring for children with these diseases. Revealing Rare neurodevelopmental diseases (NDD) pose significant health narratives of parents struggling in meeting their children's com- the experiences of parenting children with rare diseases exposes and social challenges; however, there is insufficient understand- plex health‐care and social needs. Parental narratives have been ing amongst health‐care and social care providers about parents’ unvoiced, misunderstood and incoherent to health‐care providers This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2019 The Authors Health Expectations published by John Wiley & Sons Ltd Health Expectations. 2019;22:1251–1259.  wileyonlinelibrary.com/journal/hex | 1251 1252 | CURRIE and SZABO (HcPs) and the community at large, often leading to the silencing of 1,2 and resilience associated with disabilities may possibly contribute to Unsilencing and illuminating parent suppressing and diminishing parent experiences. Mothers typically voices and experiences can increase insights into, and understanding are more responsible for managing the daily medical and social care these multivocal experiences. of the challenges of living with complex disabilities. Providing this needs of children with rare diseases; therefore, literature focusing ‘insider view’ may cultivate health‐care and social care practices and on social expectations for mothering is important to include here.7 policies that are informed by understanding actual experiences, per- The concept of the ‘embodied mother’ merges the experience ceptions of parents, and parents’ own personal and practical knowl- of the disabled child with the mother's physical and social body as edge 3 when caring for children with NDDs. 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 2 | BAC KG RO U N D and participant’20 experiencing the public landscape of the disabled child. Glenn also speaks to social silencing as a power discourse In this literature review, the first section addresses rare diseases, within patriarchal systems that disempowers mother and parent specifically NDDs; the second section explores parents’ experience voices. 21 Carpenter and Austin extend this understanding, stating in caring for children with complex diseases; and the third section mothers’ experiences have been unvoiced and unstoried by HcPs describes social constructs of parenting, particularly constructs when their identities and personhood become fused with those of influencing expression of parent care experiences. Together, these their children as they struggle to meet their children's health and so- provide some of the main considerations that shape this proposed cial needs.11 This muting contributes to mothers feeling diminished inquiry. and ‘disabled’ as parents and caregivers.11 Rare diseases disproportionately impact more children than Another social construct within the literature affecting care pro- adults and can lead to premature death4; 80% of rare diseases are viders’ response to parents, primarily mothers, includes ideologies of caused by genetic changes.4 Contained within the rare disease clas- the ‘good mother’. 22 Dominant constructs that focus on the mother sification are genetic NDDs that influence the development and within the family create and sustain unrealistic expectations for par- function of the brain and other body systems due to mutation in enting behaviours. Good mothers are nurturing, and selfless while a single gene or multiple genes. 5 Many rare NDDs cause substan- providing unconditional love22; are devoted to their children; and tial disabilities for children in multiple arenas with cognitive impair- seek needed resources for their children. 23,24 The literature reveals ment, growth and development delays, physical disabilities, severe there are even higher expectations within society for mothers caring neurobehavioural issues and social impairments.6 The burden of for children with disabilities. Mothers are to be selfless, self‐sacrific- care placed on parents is significant in meeting these complex chal- ing, emotionally compassionate, patient, resilient, resourceful, self‐ 7 lenges, and these experiences have been underexplored by health directed, problem solvers, find meaning in difficult situations, and be systems and providers.1,2,8,9 hyperresponsive and hyper‐responsible.19,25,26 Narratives from parents with children with disabilities have Elaborating further on parents’ experience with caring for chil- remained at the edge of larger medical and social systems, poten- dren with complex care needs, researchers historically display loss tially contributing to parental needs being taken for granted and and grief as an overwhelming experience with little recovery. Studies remaining unaddressed.10-12 Parents must become expert care are grounded in loss of the ‘typical’ child. 27 Recently, authors have providers addressing pervasive health and social needs, navigating shifted to parental models of acceptance and resilience in the face of fragmented discoordinated care within health‐care and government adversity. 28,29 This concept of resilience suggests adaptation, trans- support systems, while carrying a heavy burden of care.13 Within formation, and eventual growth and transcendence for families.30,31 the finite studies of parent experiences in caring for children with The literature suggests an expectation of recovery and moving on medical complexity, parents describe carrying significant emotional from difficult life circumstances and struggle. and social responsibility when caring for their children because of 13-16 overwhelming circumstances and struggles. In summary, these social constructs may not provide insight Parents express into the experience of caring for children who require intensive in- being stressed, overwhelmed and overextended with providing care tervention and management. Complex, struggling or overwhelm- at home where similar care within hospital settings required highly ing parenting experiences are not always coherent or recognized specialized providers.11,17 within these social constructs, and parent experiences may be Even with intensive care needs, parents do not receive the sup- constrained and silenced by larger influences and thus remain ‘un- ports and services they require to meet their children's complex care storied’. There is a need to expand understanding by construct- needs.12,17 This lack of responsiveness may be related to social, his- ing new meanings and interpretations of parents’ experiences of torical, cultural and medical expectations of parents and resulting caring for a child with a rare NDD. Parent narratives about car- 18,19 social narratives. In particular, parental experiences of caring ing for children with NDDs can offer deeper and richer insights for children with rare complex diseases do not resonate within so- into parents’ experiences than exist in the current literature. This cially constructed discourses of parenthood and thus remain unsto- knowledge may inform the development of sensitive, supportive, ried.11,19 The social constructs of embodied mother, ‘good mother’, appropriate care strategies, practices and policies. The research | 1253 CURRIE and SZABO explored the following question: What are parents' perceptions from parent support groups within several Western Canadian hos- and experiences of support from health and social service com- pitals. While the sample size was small, it was typical for this type of munities when living with a child with a rare neurodevelopmental inquiry.37 Adequacy of the sample was achieved when the interpre- disease (NDD)?. tation expanded understanding.38 3 | M E TH O DS 3.4 | Participants 3.1 | Methodology Parents were 30‐45 years of age with children 11 years of age and Hermeneutic phenomenological inquiry was chosen for this re- had high school education with the majority having several years younger, diagnosed with rare NDDs within 2 years of birth. Parents search study as its philosophical beliefs increase understanding of of post‐secondary education. Fourteen of the parents were living what has been silenced or unstoried within the parent experience.32 with a partner; one was a single parent because of divorce. Four of Within hermeneutic phenomenology, narratives are constructed to the participants were married to each other and were interviewed honour the historical, cultural, political, relational and contextual separately. Parents had middle to higher income status, with nine understandings of experiences and the generative and additive ef- mothers and all fathers employed in either part time or full‐time em- fects of individual or social influences.33,34 The goal of hermeneutic ployment. Five of the parents lived in rural settings. See Table 1: phenomenology was to understand the meanings associated with Participant Demographics. parents’ everyday experiences in caring for children with rare NDDs. 3.5 | Data collection 3.2 | Inclusion criteria Interviews were conducted from June 2016 to November 2016 in Eligibility for the study involved meeting the definition of a rare two urban centres as well as several rural areas in Western Canada. disease as set by Rare Disease Foundation of Canada with parents The setting for the interviews was negotiated with the participants. whose children had a rare NDD (defined as having a prevalence of One participant chose to be interviewed at a private work setting; below 1 in 2000 live births).35 all other participants elected to be interviewed in their own homes. Prior to commencing the semi‐structured interviews, human re- 3.3 | Recruitment search ethics approval was received for this research project. Due to Fifteen parents (11 mothers and 4 fathers) were recruited for the with participants to attend vulnerability with disclosure. In‐depth, study using purposive sampling.36 Parents were recruited from med- face‐to‐face interviews lasted from 45 to 120 minutes to promote ical genetic, endocrine, and neuropsychiatry clinics and self‐referrals engagement with participants and provide ample opportunity for TA B L E 1 the sensitive nature of the narratives, the researchers worked closely Participant characteristics Gender Age Marital status Education Employment status Yearly household income Female 32 Married/Domestic Partnership Some College Part time $50 000–$74 999 Female 30 Married/Domestic Partnership Some College Stay at home parent $50 000–$74 999 Male 33 Married/Domestic Partnership College Full time $50 000–$74 999 Female 40 Divorced/Separated University (Bachelor's) Part time $50 000–$74 999 Male 35 Married/Domestic Partnership College Full time $50 000–$74 999 Female 35 Married/Domestic Partnership College Full time $50 000–$74 999 Female 39 Married/Domestic Partnership College Full time $100 000–$149 999 Female 32 Married/Domestic Partnership Some College Stay at home parent $50 000–$74 999 Female 34 Married/Domestic Partnership University (Bachelor's) Full time $75 000‐$99 999 Female 38 Married/Domestic Partnership College Full time $75 000‐$99 999 Female 43 Married/Domestic Partnership College Full time $75 000‐$99 999 Female 44 Married/Domestic Partnership University (Bachelor's) Full time $75 000‐$99 999 Male 37 Married/Domestic Partnership College Full time $100 000–$149 999 Male 45 Married/Domestic Partnership University (Master's) Full time $100 000–$149 999 Female 42 Married/Domestic Partnership University (Master's) Full time $100 000–$149 999 Note: No detailed demographic information has been provided, so as to protect the personal identity of the participants. 1254 | CURRIE and SZABO parents to describe their perceptions. All interviews were recorded but it seems like the most tedious, stupid thing, and it and transcribed verbatim. Researchers checked the transcripts for makes you feel like no one is listening or cares’. (Kim) accuracy before analysis. Adele described the disconnect and lack of integration within sub- 3.6 | Data analysis and rigour specialty care with a child with comorbidities: Researchers read, reflected, interpreted and re‐read the data (interviews transcripts and interpretive notes) individually as well as All of the clinics at the hospital seemed very disjointed. collectively multiple times39 to bring forth impressions, alternative You are going to the GI [gastrointestinal] clinic, but explanations, divergent patterns, and insights from the narratives GI clinic has no clue what cardio [cardiology] clinic is and interpretive notes to generate increased understanding.40,41 doing. You really had to be on top of it and organised The use of questions, reflections and understanding through inter- to make sure you asked the right questions. (Adele) pretations revealed complexities caring for children with rare NDDs. Insights were constructed to uncover the parents’ experience. 39 One father communicated how his efforts in caring for his child 4 | FI N D I N G S were not recognized by a HcP: A couple of months ago there was a report from the We explored parents’ daily experiences of caring for children with doctor, and he said it’s a miracle she’s doing so well. J complex care needs. Three insights emerged and provide new inter- and I were close to strangling him. It’s not a miracle. pretations of the parents’ experience of parenting a child with a rare It’s two people working at the edge of their scien- NDD. These insights were themed: (a) disconnect, (b) in the ring and tific, emotional, and parenting capabilities all at once, (c) self‐sacrifice. Additional insights considering the parent experience doing what drugs can’t do. are found elsewhere.42 Participant pseudonyms are used to ensure (Josh) participant anonymity and to specify the gender of the participant. Health‐care providers remained detached and disconnected from parents and their caring experiences when they did not incorporate pa- 4.1 | Disconnect: ‘…And They Talk to You Like They Have Never Met You’ rental expertise into plans of care. Maya described how her physician Parents shared the experience of caring for children with rare dis- condition: ‘Sometimes I find that they [physicians] don't really believe reacted when she brought forward information about her child's medical eases has rarely been sought by HcPs. This lack of exploration has me. They think they know more and can be condescending’. This same led to a general disconnect amongst HcPs about the disease and its parent described a lack of collaboration and not feeling supported to manifestations for families: ‘Trying to get people [HcPs] to under- share her evidence‐based knowledge: ‘Some of the unhelpful things are stand what he has is really difficult. Nobody knows about it [the when they [HCPs] are not receptive to you bringing your research to the disease]. We have to find our own help’ (Alexa). One parent de- table. They get annoyed when you go on websites’. And another parent scribed the emotional impact of disconnected care: ‘The amount of expanded on this lack of connection to parents’ knowledge of their chil- times we have gone to emergency and they talk to you like they've dren: ‘We keep giving them information and it doesn't matter. They don't never met you…It's fatiguing, emotionally draining and almost in- incorporate that information into treatment plans or protocols’ (Talia). sulting’ (Kim). In summary, parents described a disconnect from systems and Parents described depersonalization within compartmentalized providers when seeking supports and resources. There was a per- care when they had to tell their story with each provider: ‘We have ception that delivery models contributed to the disconnection be- told our story so many times that it doesn't seem like our story any- tween HcPs and parents regarding experiences of caring for children more. It takes the personalization out of it’ (Wendy). Another parent with rare NDDs. expanded on the sense of detachment within health‐care practices that treat repeated contacts with families as disconnected entities: ‘One of the things that drives me crazy is when you 4.2 | In the Ring: ‘I’m the Parent There Every Day Fighting for my Child’ go to these appointments and you think you’ve al- Parents amplified their voices and fought back when their experi- ready filled out the same things. Don’t you know this ences were not heard within health‐care and social care systems. already? Then you have to dig in your brain and write One parent stated, ‘I’m the parent there every day fighting for my it out and get stressed. Then you go to the next step child’ (Jenna). It took voices of substance to navigate through pow- and see the person and they ask you all the questions erful hierarchical systems and structures with a patchwork of sup- again.… There must be some rhyme or reason to it, ports and resources to meet chronic care needs: ‘It feels like a fight | 1255 CURRIE and SZABO every day. We fight for her. We fight the system, and we fight for any This required self‐sacrifice on an hourly if not minute by minute support we can actually get. It's very isolating and very lonely and basis. ‘I don't come from any medical background, and now I am the very frustrating.… It's terribly soul crushing’ (Talia). Similarly, another nurse and giving the meds, tubes, and suctioning. It almost compro- parent noted, ‘Everything that has happened since then, has all been mises the mothering role, that you don't get to be the safe one when stuff that I really clawed for’ (Adele). you have to be the one who is there for all of the painful things in- Within the parent role, there are expectations to stand up for stead’ (Hannah). Parents divulged a sense of desperation that they your child, but parents became frustrated with the need to fight for were never off duty and it was up to them to manage their children's essential care needs: ‘We are the people who ask tons of questions diseases. There was a sense of overwhelming accountability and re- and occasionally complain about behavior. Otherwise known as sponsibility if they did not do it correctly: ‘She can be as successful “fighting for your kids because no one else will”’ (Josh). Another par- as she wants to be, but only if we can protect her, and we might ent said, ‘You have to get into the mama bear mode when it isn't nec- fail’ (Josh). One father described the burden on parents: ‘You get essarily natural when you are trying to be nurturing and caring. Then those stupid articles that tell you about the wonderful parent that you have to switch over and take on a more forceful role’ (Maya). did twenty hours of therapy. I don't know what to do and I need to The same parent exposed a strong effort to get services: ‘We have have a job’ (Ken). knocked on doors of offices and were told we weren't invited, that Parents had to be resourceful and determine appropriate sup- we needed an appointment. Sat in emergency and told to go home ports for their children: ‘We spend a ton of time researching and but we said no and sat there until we saw someone. It's exhausting finding information’ (Jenna). Parents felt inadequate, and their ef- and takes lots of time and effort’ (Maya). When a parent was asked if anyone from the health‐care team forts were not sufficient: ‘I feel like it is never enough. No matter what I do, there's always more that I could be doing. Someone else listened to her, she replied with conviction, ‘Yes, because I’ve made is doing it better’ (Sara). The same mother discussed an ineffective myself heard. I don't think that they listen, but I kept shouting, being system relying on parents to meet care needs beyond most parents’ that annoying person who continuously calls.… We follow up and send expertise: emails and make phone calls and we don't get missed anymore’ (Maya). Another parent said, ‘They're calling for a neurology consult, and no- I just want to be her Mom. We are expected to do body showed up. I began screaming and said, ‘Does it take brain dam- things as parents and know things as parents that you age before a neurologist shows up?’ We got a neurologist that day to as a typical parent wouldn’t have an expectation for show up’ (Josh). These narratives spoke to the necessity to be heard. medically. I’m not saying I don’t want to do anything to Parents relayed stories of pushing back against ineffective care help her. I’ll support her, but I am no expert. models and social systems as fighters, saviours and navigators for (Sara) their children. One participant, when asked about her challenges with addressing care needs, stated, ‘I can't imagine not fighting for Parents described the expectation to be hyperresponsive and hy- my child, because if I don't fight for him, who is going to? I can't imag- pervigilant when caring for their children: ‘There are so many things ine how you would navigate that [health care] system. Even for me that are required.… There are so many have to's’ (Sara). Another parent to navigate it and I’m home. There are days where you want to pull noted, ‘It's not like these are one‐time events, they are a repetition.… It your hair out’ (Jenna). Strong metaphors were used to describe the is like running on empty in a hypervigilant state’ (Kim). This places great struggle to be heard: ‘We are like people in a war. Our consequences responsibility on families: ‘We never go out because someone has to affect one life, not many. Our job is to keep her alive. It's the job of stay with her’ (Sara). every parent to keep their child alive. The reality of what that means Parents also revealed the experience of seeking medical care and is a lot more visceral to us’ (Josh). Another father expressed discom- the mixed messages they received from HcPs. ‘They [the seizures] fort in fighting for rights for his child: ‘The more you bitch, the more are scary. People don't get it and don't understand. We know be- you get things done. People who let the system work get left behind. tween the two of us, whether it's calling 911, we get mixed feedback. If I have to be an ass to get something done, then I’ll do it. It's not my ‘Well why didn't you bring them in sooner’ or ‘Why did you bring nature to do that’ (Ken). In short, there was a sense of pressure to manage the disease, them in?’ We get a lot of that’ (Wendy). One father expressed how difficult it was to manage the medical fragility with his child: navigate the health‐care and social care systems, and strongly advocate for supports to meet care needs. Parents described the struggle You can have a perfectly normal healthy child, and you and effort to be heard while being ‘in the ring’ with health‐care and could lose your child. The difference in our case is that social care systems and structures. awareness that you can lose your child and the actuality of almost losing your child is much more intense 4.3 | 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. and constant. I don’t know if we’re suffering from PTSD [posttraumatic stress disorder], but we haven’t slept for three years for more than a few hours. (Josh) 1256 | CURRIE and SZABO Hypervigilance led parents to uncover any medical and social sup- The parent narratives resonated with impressions of silencing, ports while managing daily care needs: ‘It has been a lot of finding our being silenced and remaining silent when interfacing with systems own information, finding those answers and being overly cautious for and providers. Parents have been silent about their experiences be- everything that is happening’ (Wendy). This hypervigilance brought cause of discomfort from others and society with exposing strug- feelings of helplessness and vulnerability at great personal cost: ‘You gle instead of valour and transcendence. Parents need to give voice are on all the time. I think the nature of parenting kids with special to narratives of caring children with chronic illnesses, but they may needs, you are so tired, and feel do much older than you are’ (Kim). be socially silenced within cultural narratives that depict them as a One of the sacrifices for parents was opening their homes to sup- ‘good’ mother or parent.11,19 Parents spoke of disillusionment within port workers on a daily basis. Although parents valued the support expectations from social constructs. There is a need to move from and help they were receiving for their children, they also expressed the cultural storyline of transformation with growth, betterment and the invasion of privacy and loss of boundaries within private spheres: transcendence to mitigate necessary medical and social supports for ‘I appreciate the help, but I don't want someone in my house’ (Wendy). parents. 26,43 These findings enrich and expand current parenting Parents expressed lack of privateness from therapists and support constructs and care practices for families dealing with chronic dis- workers: ‘You have no privacy.… As a parent you say or do something ease and open the space for understanding. and wish you wouldn't have, and now you have another adult in there The findings also relay how interacting with systems and provid- [your home] as well. I didn't feel judged by the aide, but I felt it wasn't ers has shaped, constrained and silenced parents’ voices about their fair to the other kids’ (Sara). Parents described the expectation they experiences in caring for children with rare diseases. Parents de- should feel privileged for the intrusion because they were receiving scribed how health‐care and social care systems depend on parents specialized care. ‘I think there's a lack of awareness and lack of un- to overcome care challenges as a valourized way of managing gaps in derstanding even from people close to us. They thought if you have health care. This dominant dependence on parents may excuse the nurses in your house everything should be wonderful; they don't larger social and political contexts that need to be addressed beyond know why you are complaining’ (Maya). This same parent described parents’ abilities26,44,45 and serve to create and sustain unrealistic the disruption and sense of judgement within her home: expectations for parents. Our findings reveal the need to look beyond individual characteristics and family factors to larger policies As a new mom I found it hard not to feel judged when and care delivery practices within social, political and health systems you’re having an odd day and want to plunk the tod- for children with complex needs.1,10,44,46,47 Current practice models dler in front of the TV and there’s someone in your provide disjointed fragmented care because of highly compartmen- house. You feel the need to be on. You can’t feel frus- talized systems of medical management.48 Children see multiple care trated and yell at the kid because there’s someone providers with expertise in highly specialized areas of care.48 Often, here. When you want to wear pajamas all day. When I the child or family, despite or likely because of the numerous pro- want to nurse, I think I’ve nursed him in front of every viders working with them, experience incomplete sharing of clinical person. That’s kind of an intimate thing for a new information across programmes and systems, no pre‐planning for mom and baby that we didn’t get because we were anticipated care disruptions and lack a shared plan of care.49-51 Our always in front of people. It puts that extra set of eyes findings support an integrated care model with a case manager for the family, telehealth services for easier and timely access to care sup- on you as a mom. (Maya) ports, adequate respite, emotional and peer support, and education and resources for medical and behavioural complexity.1,10,44,48,52,53 In summary, parents expressed having to address unmet care As well, parents tried to overcome care challenges as unrec- gaps as hypervigilant, hyperresponsive care givers. Parents also had ognized and silent therapists and care providers, often with lit- to accept care providers in their homes, impinging on their privacy. tle training or experience. Sousa coined the mother caregiver as a This burden of care resulted in stress and a sense of intrusion for ‘warrior‐hero’54(p220): parents and families. Mothers are expected to be nurturers as well as the 5 | D I S CU S S I O N A N D CO N C LU S I O N external translators, advocates, and soldiers with expert, specialized knowledge in varied medical and nonmedical fields, including law, education, behavior This is one of few studies describing the unstoried experiences of analysis, pharmacology, sensory integration, motor parents caring for children with rare NDDs. The narratives illuminate therapies, and bureaucratic minutia.54(p. 239) something new, different, and distinctive about parenting a child with a chronic illness and seem to contradict widely accepted social con- This is consistent with the work of MacKean et al, who described structs surrounding parenting and caring for children with disabilities. caregivers surrendering their roles as parents while taking on profes- Parents expressed feelings of normality and abnormality within a limi- sional roles and jeopardizing their relationships and interactions with nal space from what is familiar and unfamilar about the care experience. their children.55 As well, Macvarish et al described cultural pressure | 1257 CURRIE and SZABO on parents to be their child's expert, providing therapy and intervention to prevent further delays. 56 These imposed pressures contribute With the multitude of providers, parents felt silenced when they were not considered as part of the plan of care. Parents de- to parental feelings of intrusion, anxiety and failure, while overlooking scribed amplifying their voices to get needed supports and de- broader allocation of health‐care resources and supports. scribed this struggle using raw primordial language. Optimizing These are unrealistic caregiving expectations requiring sizable family functioning must include unsilencing family narratives and consideration of effort, money and training. If parents fail to pro- amplifying parent experiences as story‐worthy. Barnert et al59 and vide or secure services for their children, there is a shift from hero Thomson et al13 stated the health of the child is intertwined with status to blaming parents for not doing enough for their children and the health of the family and cannot be measured outside of the potentially worsening or exacerbating the disability.57 Parents may sphere of family health—the family is the patient. Our findings remain silent with care providers if they cannot transcend feeling support acknowledging the family as a central unit of care 60,61; overwhelmed and overburdened with predictably unpredictable assisting parents with navigating and coordinating the broader home situations. 26 social and medical systems; supporting disease and family tran- Silencing of parents also occurred when experiences were misunderstood, suppressed or not validated by HcPs. Stories of sitions; and linking providers across institutions, community sites, and sectors. 62-65 struggle, normality and abnormality, and familiar and unfamiliar This study has expanded our understanding of parents’ percep- dimensions of parenting children within the findings enrich and ex- tions of caring for children with rare NDDs. Given these interpreta- pand current parenting constructs and care practices for families tions, we have an opportunity to inform the present understanding managing chronic disease. Parents’ care experiences need to be of caring for children with chronic illnesses while generating new voiced, validated and legitimized by HcPs to inform an understand- strategies and directions for supporting families. More interpretive ing and develop appropriate health and social support policies and studies could give voice to the parent perspective to improve quality practices for families. This need for validation of the struggle within of life, care practices, and public policies for families living with a the parent experience has rarely been revealed in the literature. 17 rare disease. 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 6 | S TR E N G TH S A N D LI M ITATI O N S the need to break the silence on difficulties and challenges with the caregiving experience: ‘When we begin naming our experiences as This study focused on the lived experiences of parents of caring real, we bring our everyday challenges out of the shadows and into for children with rare NDDs. The researchers interviewed parent full light to be noticed and appreciated and valued’.58 White goes participants and did not submit transcripts to participants for mem- further and says, it is not enough to just be aware of what care- ber checking, as is congruent with hermeneutic phenomenology.66 givers are experiencing—HcPs must acknowledge and validate the The researchers, however, did present the findings to stakeholders care parents provide for their children58: (including parents within local rare disease groups and HcPs), who acknowledged that the study outcomes aligned with their lived ex- But after people walk and drive far away from our periences. More research in this area will expand on parents’ experi- situations, we are still here—in it. Other people will ences of caring for children with rare diseases. not make meaning for us. They will not find value in our experiences. They don’t have to—yet. They don’t need to—yet. We have to—now. We must—now. Or we risk getting stuck in others’ stale misperceptions AC K N OW L E D G E M E N T S We would like to acknowledge parents who participated in our study. that deny the very parts of everyday realities that we We would also like to thank the staff who supported this study from must inject with value, especially when they appear Alberta Health Services in Calgary and Edmonton, Alberta. Finally unbearable. we would like to thank our research team for their contributions to (Z. White, personal communication, September 5, our study. 2017) Parents also described huge responsibility and burden when navigating medical algorithmic pathways and determining steps in C O N FL I C T O F I N T E R E S T There are no conflicts of interest to declare. care. As well parents became silenced and felt isolated when their expertise regarding their child was not sought or included in health or social plans of care. Parents as caretakers are increasingly pushed DATA AVA I L A B I L I T Y S TAT E M E N T to invisible perimeters of hegemonic discourses that speak the lan- The data that support the findings of this study are available on re- guage of disconnection and detachment. Not all parental experi- quest from the corresponding author. The data are not publicly avail- ences fit the form and forming of normative disability. able due to privacy or ethical restrictions. 1258 | CURRIE and SZABO ORCID Genevieve Currie https://orcid.org/0000-0001-9478-0850 REFERENCES 1. Baumbusch J, Mayer S, Sloan‐Yip I. Alone in a crowd? Parents of children with rare diseases’ experiences of navigating the healthcare system. J Genet Couns. 2019;28(1):80‐90 2. Pelentsov LJ, Fielder AL, Esterman AJ. The supportive care needs of parents with a child with a rare disease: A qualitative descriptive study. J Pediatr Nurs. 2016;31(3):e207‐3218. 3. Clandinin DJ. Engaging in narrative inquiry. Chicago, IL: Left Coast Press; 2013. 4. CORD. Canadian Organization of Rare Disorders. 2019. https​:// www.rared​isord​ers.ca. Accessed April 06, 2019. 5. Global Genes. Global Genes rare patient advocacy summit. 2018. https​://globa​lgenes.org/2019s​ummit​. Accessed November 13, 2018. 6. Genetic Rare Diseases Information Centre. US Department of Health & Human Services. 2018. https​://rared​iseas​es.info.nih.gov. Accessed November 13, 2018. 7. CORD. Canadian Impact of Rare Disease Survey. 2019. http://www. rared​isord​ers.ca/conte​nt/uploa​ds/CORD_2019-Canad​ian-Impactof-Rare-Disea​se_Infog​raphic.pdf. Accessed April 06, 2019. 8. Casey PH, Lyle RE, Bird TM, et al. Effect of hospital based comprehensive care clinic on health costs for medicaid‐insured medically complex children. Arch Pediatr Adolesc Med. 2011;165(5):392‐398. 9. Clark D, Clark M, Seel K. Disability Policy in Alberta: An Initial Exploration of Transition Implications. Calgary, AB: Mount Royal College, Institute for Nonprofit Studies; 2009. 10. Brock S. The experiences of women who mother children with disabilities: Maternality, relationality, subjectivity. Sydney eSchol Rep. 2017. http://hdl.handle.net/2123/16947​. Accessed November 13, 2018. 11. Carpenter L, Austin H. Silenced, silence, silent: motherhood in the margins. Qual Inq. 2007;13(5):660‐674. 12. Woodgate RL, Edwards M, Ripat JD, Borton B, Rempel G. Intense parenting: A qualitative study detailing the experiences of parenting children with complex care needs. BMC Pediatr. 2015;15(1):1‐22. 13. Thomson J, Shah SS, Simmons JM, et al. Financial and social hardships in families of children with medical complexity. J Pediatr. 2016;172:187‐193. 14. Craig F, Operto FF, De Giacomo A, et al. Parenting stress among parents of children with neurodevelopmental disorders. Psychiatry Res. 2016;242:121‐129. 15. Miller A, Shen J, Mâsse LC. Child functional characteristics explain child and family outcomes better than diagnosis: Population‐based study of children with autism or other neurodevelopmental disorders/disabilities. Health Rep. 2016;27(6):9. 16. Galpin J, Barratt P, Ashcroft E, Greathead S, Kenny L, Pellicano E. ‘The dots just don’t join up’: Understanding the support needs of families of children on the autism spectrum. Autism. 2018;22(5):571‐584. 17. Peckham A, Spalding K, Watkins J, Bruce‐Barrett C, Grasic M, Williams AP. Caring for caregivers of high‐needs children. Healthcare Quarterly. 2014;17(3):30‐35. 18. Clandinin DJ, Connelly FM. Narrative Inquiry: Experience and Story in Qualitative Research. San Francisco, CA: Jossey‐Bass; 2000. 19. Brock S. The impact of “good mothering” ideology on identity perception for mothers of children with disabilities. Hecate. 2014;40(1):20‐35. 20. Robertson R. “Misfitting” mothers: Feminism, disability and mothering. Hecate. 2014;40(1):7. 21. Glenn C. Unspoken: A Rhetoric of Silence. Carbondale, IL: Southern Illinois University Press; 2004. 22. Rich A. Of Woman Born: Motherhood as Experience and Institution. New York, NY: Norton; 1976. 23. Chodorow NJ. The Reproduction of Mothering. London, UK: University of California Press; 1978. 24. Hays S. The Cultural Contradictions of Motherhood. New Haven, CT: Yale University Press; 1996. 25. Goodwin S, Huppatz K. The Good Mother: Contemporary Motherhoods in Australia. Sydney, NSW: Sydney University Press; 2010. 26. Knight K. The changing face of the ‘good mother’: Trends in research into families with a child with intellectual disability, and some concerns. Disabil Soc. 2013;28(5):660‐673. 27. Kearney PM, Griffin T. Between joy and sorrow: Being a parent of a child with developmental disability. J Adv Nurs. 2001;34(5):582‐592. 28. Al‐Krenawi A, Graham JR, Gharaibeh FA. The impact of intellectual disability, caregiver burden, family functioning, marital quality, and sense of coherence. Disabil Soc. 2011;26(2):139‐150. 29. Levine KA. Against all odds: Resilience in single mothers of children with disabilities. Soc Work Health Care. 2009;48(4):402‐419. 30. Durà‐Vilà G, Dein S, Hodes M. Children with intellectual disability: A gain not a loss: Parental beliefs and family life. Clin Child Psychol. 2010;15:171‐184. 31. Trute B, Benzies KM, Worthington C, Reddon JR, Moore M. Accentuate the positive to mitigate the negative: Mother psychological coping resources and family adjustment in childhood disability. J Intellect Dev Disabil. 2010;35(1):36‐43. 32. McManus Holroyd AE. Interpretive hermeneutic phenomenology: Clarifying understanding. Indo‐Pacific J Phenomenol. 2007;7(2):1‐12. 33. Laverty SM. Hermeneutic phenomenology and phenomenology: A comparison of historical and methodological considerations. Int J Qual Methods. 2003;2(3):21‐35. 34. Moules NJ, McCaffrey G, Morck AC, Jardine DW. On applied hermeneutics and the work of the world. J Appl Hermeneut. 2011;1:1‐5. 35. Rare Disease Foundation. Transforming revolutionizing rare disease care. 2018. https​://www.rared​iseas​efoun​dation.org. Accessed November 13, 2018. 36. Creswell JW. Qualitative Inquiry and Research Design: Choosing Among Five Approaches, 3rd edn. Washington, DC: Sage; 2013. 37. Sandelowski M. Sample size in qualitative research. Res Nurs Health. 1995;18(2):179‐183. 38. Smith JA, Osborn M. Interpretative phenomenological analysis. In: Smith JA, ed. Qualitative psychology: A practical guide to research methods. Thousand Oaks, CA: Sage; 2008:53‐80. 39. Gadamer HG. Truth and Method. New York, NY: Continuum; 1998. 40. Moules NJ. Hermeneutic inquiry: Paying heed to history and Hermes—An ancestral, substantive and methodological tale. Int J Qual Methods. 2002;1:1‐40. 41. Whitehead L. Enhancing the quality of hermeneutic research: Decision trail. J Adv Nurs. 2004;45(5):512‐518. 42. Currie G, Szabo J. “It is like a jungle gym, and everything is under construction”: The parent’s perspective of caring for a child with a rare disease [published online ahead of print]. Child Care Health Dev. 2018;45(1):96–103. 43. Belenky MF, Clinchy BM, Goldberger NR, Tarule JM. Women’s Ways of Knowing: The Development of Self, Voice, and Mind, Vol. 15. New York: Basic books; 1986: 19. 44. Muir K, Strnadová I. Whose responsibility? Resilience in families of children with developmental disabilities. Disabil Soc. 2014;29(6):922‐937. 45. Turnbull AP, Summers JA, Lee S‐H, Kyzar K. Conceptualization and measurement of family outcomes associated with families of individuals with intellectual disabilities. Dev Disabil Res Rev. 2007;13(4):346‐356. | 1259 CURRIE and SZABO 46. O’Grady P, Malloch K. Quantum Leadership: Creating Sustainable Value in Health Care. New York, NY: Jones & Bartlett Learning; 2017. 47. Swensen S, Pugh M, McMullan C, Kabcenell A. High‐Impact Leadership: Improve Care, Improve the Health of Populations, and Reduce Costs. IHI White Paper. Cambridge, MA: Institute for Healthcare Improvement; 2013. 48. Brodeur M, Chouinard MC, Hudon C. Frequent users experience of healthcare services: A qualitative metasummary. Montreal, Canada: NAPCRG Annual Meeting, 2017. 49. Kingsnorth S, Lacombe‐Duncan A, Keilty K, Bruce‐Barrett C, Cohen E. Inter‐organizational partnership for children with medical complexity: The integrated complex care model. Child Care Health Dev. 2015;41(1):57‐66. 50. Kuo DZ, Bird TM, Tilford JM. Associations of family‐centered care with health care outcomes for children with special health care needs. Matern Child Health J. 2011;15(6):794‐805. 51. McAllister JW. Achieving a Shared Plan of Care with Children and Youth with Special Health Care Needs. Palo Alto, CA: Lucile Packard Foundation for Children’s. Health; 2014. 52. Pordes E, Gordon J, Sanders LM, Cohen E. Models of care delivery for children with medical complexity. Pediatrics. 2018;141(Suppl 3):S212‐S223. 53. Edelstein H, Schippke J, Sheffe S, Kingsnorth S. Children with medical complexity: A scoping review of interventions to support caregiver stress. Child Care Health Dev. 2017;43:323‐333. 54. Sousa AC. From refrigerator mothers to warrior‐heroes: The cultural identity transformation of mothers raising children with intellectual disabilities. Symb Interact. 2011;34(2):220‐243. 55. MacKean GL, Thurston WE, Scott CM. Bridging the divide between families and health professionals’ perspectives on family‐centred care. Health Expect. 2005;8(1):74‐85. 56. Macvarish J, Lee E, Lowe P. The ‘first three years’ movement and the infant brain: A review of critiques. Soc Compass. 2014;8(6):792‐804. 57. Blum L. Mother‐blame in the Prozac nation: raising kids with invisible disabilities. Gender Soc. 2017;21(2):202‐226. 58. White Z. When Getting Through No Longer Works. The Unprepared Caregiver. 2017. https​://theun​prepa​redca​regiv​er.com/2017/09/ when-getti​ng-throu​gh-no-longer-works​. Accessed November 13, 2018. 59. Barnert ES, Coller RJ, Nelson BB, et al. Experts’ perspectives toward a population health approach for children with medical complexity. Acad Pediatr. 2017;17(6):672‐677. 60. Reeves S, Perrier L, Goldman J, Freeth D, Zwarenstein M. Interprofessional education: Effects on professional practice and healthcare outcomes. Cochrane Database Syst Rev. 2013;28(3) https​ ://doi.org/10.1002/14651​858.CD002213. 61. Turchi RM, Antonelli RC, Norwood KW, et al. Patient‐and family‐centered care coordination: A framework for integrating care for children and youth across multiple systems. Pediatrics. 2014;133(5):e1451‐e1460. 62. Kuo DZ, Berry JG, Glader L, Morin MJ, Johaningsmeir S, Gordon J. Health services and health care needs fulfilled by structured clinical programs for children with medical complexity. J Pediatr. 2016;169:291‐296. 63. Kuo DZ, McAllister JW, Rossignol L, Turchi RM, Stille CJ. Care coordination for children with medical complexity: whose care is it, anyway? Pediatrics. 2018;141(Suppl 3):S224‐S232. 64. Kuo DZ, Houtrow AJ, Arango P, Kuhlthau KA, Simmons JM, Neff JM. Family‐centered care: Current applications and future directions in pediatric health care. Mat Child Health. 2012;16:297‐305. 65. Coyne I. Families and health‐care professionals’ perspectives and expectations of family‐centred care: Hidden expectations and unclear roles. Health Exp. 2015;18:796‐808. 66. Moules NJ, McCaffrey G, Field JC, Laing CM. Conducting Hermeneutic Research: From Philosophy to Practice. New York, NY: Peter Lang; 2015. How to cite this article: Currie G, Szabo J. ‘It would be much easier if we were just quiet and disappeared’: Parents silenced in the experience of caring for children with rare diseases. Health Expect. 2019;22:1251–1259. https​://doi.org/10.1111/ hex.12958​