Mothering a Child With Complexity and Rarity: A Narrative Inquiry Exploring Prader-Willi Syndrome

Abstract

Daily experiences of mothers caring for children with Prader-Willi syndrome (PWS) are largely unknown and unvoiced. Knowledge of PWS has generally focused on pathology of the disorder. This emphasis overlooks the challenging moments of everyday life caring for children with PWS. Storied accounts of mothers caring for children with PWS offer expanded narratives to medicalized descriptions of experience. An understanding of everyday challenges in managing physical and mental health issues of PWS including hyperphagia and anxiety may create shifts in social and clinical perspectives. This understanding could improve practices in health and social care for families with PWS. This narrative inquiry studied everyday experience using storied accounts. Participants were mothers caring for children aged 3–17 years with genetically confirmed PWS who were experiencing hyperphagia. Four participants were recruited, and each interviewed 8–12 times over 12 months. Field texts and narrative accounts were co-composed through a collaborative process of analysis. Engaging with participants’ day-to-day experiences offered insights into their work of nurturing, caring, and contributing to the care of a child with PWS. Narrative threads focused on complexity and rarity and include the desire to be normal, how ordinary becomes extraordinary, isolation, behaviors and normative standards, and alternative stories of mothering. Recommendations for practice and policy include (a) challenges of mothering a child with complexity, (b) moving beyond functionality and impairment to participation and quality of life, (c) re-storying narratives and supports for families, and (d) engaging with mothers to determine care priorities.

Daily experiences of mothers caring for children with complex rare disorders such as Prader-Willi syndrome (PWS) are largely unknown and unvoiced. Knowledge of the neurodevelopmental disorder (NDD) of PWS has generally focused on pathology and treatment. These emphases overlook the complicated and challenging moments of everyday family life of mothers in caring for children with PWS. Mothers are often the primary caregivers of children with PWS because of intensive care needs, lack of equal division of care work among caregivers, and the gendered roles of mothers (Chiarotti et al., 2023). Storied accounts of the everyday lives of mothers caring for children with PWS offer an alternative and expanded narrative to medicalized descriptions of experience (Currie et al., 2024; Goodley & Runswick Cole, 2015) that dominate PWS research.

In this inquiry, the first author engaged with mothers in Canada caring for their children with PWS for 12 months. There were very few national or provincial supports for families caring for complex rare disorders as experienced by these families. The inquiry opened opportunities for deeper noticing (Caine et al., 2018) of the everydayness (Bamburg, 2006) of caring for a child with PWS from the perspective of mothers. Mothers shared stories and co-constructed narrative accounts of their experience of mothering and caring for a child with PWS. Knowledge of these experiences enriches an understanding of effective and useful support and intervention for families.

Background

Complexity and Rarity of PWS

Prader-Willi syndrome is a NDD that has many medical and behavioral complexities. One of the most challenging complexities is hyperphagia, the feeling of always being hungry and never full. In children with PWS, persistent hunger can lead to high anxiety, behavioral outbursts, food-seeking, stealing, overeating, possible gastric rupture, and even death (Butler et al., 2017; Tan et al., 2020). While PWS is not solely about hyperphagia, the presence of a constantly hungry child becomes a central focus of family life and a significant stressor for all family members. Individuals with PWS also have one of the highest incidences of maladaptive behaviors (perseveration, lying, obsessive compulsive behaviors, arguing, self-injurious behaviors, and aggression) and psychiatric issues over most other NDDs (Kayadjanian et al., 2018). As a result of these behavioral issues, families spend considerable energy throughout the day, responding to and managing emotional outbursts and anxiety (MacKay et al., 2019; Mazaheri et al., 2013).

PWS is further classified as a rare genetic disorder. PWS occurs in approximately 1 in 15,000 to 20,000 births (Miller et al., 2011). Existing medical knowledge and treatment of rare disorders are insufficient to inform the day-to-day management of the child’s needs (Pelenstov et al., 2016; Picci et al., 2015). Insufficient knowledge of rare disorders and lack of funding for medical and social care support have been cited as reasons for lack of medical and social treatment pathways and support for families (Currie & Szabo, 2018; Pelenstov et al., 2015). Therefore, few medical or social care supports exist for families to manage the complexities of caring for the hyperphagia and behavioral challenges associated with PWS. This potentially situates parents and their children as vulnerable, with inadequate support to manage day-to-day activities while living with a complex disease. Understanding the nuances of parenting a child with a rare disorder provides insight into how families struggle to meet the complex medical and social needs of their children. Unfortunately, there have been few research studies examining the impact of rareness of disorders and their effect on families (Baumbusch et al., 2018; CORD, 2019; Currie & Szabo, 2019). This gap in knowledge reinforces the need for research that explores the support and resources needed by parents in managing day-to-day care for their children.

Mothering a Child With PWS

To date, research and knowledge has largely addressed the biological makeup of PWS and the clinical manifestations and comorbidities of the multisystem disorder. Mothers’ experiences of caring for their children and navigating the complexities of PWS are disconnected from the disorder and the biomedical presentation of PWS. There is limited understanding of the tensions and complexities of day-to-day parenting for mothers (Rozensztrauch & Śmigiel, 2022; Vitale, 2016). In particular, there is limited research regarding mothers’ everyday experience in managing children’s hyperphagia, anxiety, and behaviors associated with hunger and insatiation (Currie et al., 2024). Mothering a child with PWS is fraught with tension and contradictions in meeting the typical characteristics of ‘good mothering’.

A component of ‘good mothering’ is care work (Armenia, 2018). The social expectation in most cultures is that mothers care for their children regardless of the medical, social, economic, or physical circumstances (Runswick-Cole & Ryan, 2019). Mothers are often considered responsible for the actions and demeanor of their children, notwithstanding challenging physical and medical manifestations (Green et al., 2017; Smith et al., 2018). These norms for mothers can be unattainable and unreachable for those caring for children with physical and social complexity such as PWS. They provide unrealistic social expectations for mothering, which contributes to feelings of incompetence and inadequacy when these expectations are not reached (Knudson-Martin & Silverstein, 2009). In addition, mothers’ day-to-day experiences of mothering and care work for a child with PWS have, to date, been under-explored (Currie, et al., 2024).

Mothering a child with PWS requires close supervision to prevent excessive food intake. Therefore, mothers must become hypervigilant and implement ways to manage their child’s disorder (Allen, 2011; McCann et al., 2012). These are complex challenges, in which mothers must often deny food to their hungry child. Managing hyperphagia and associated behaviors through excessive vigilance becomes a central focus of the mother’s relationship with her child. This tension and conflict of not feeding a hungry child bumps up against typical mothering practices. Not feeding their hungry child means that mothers’ experiences in caring for children with PWS live outside of ‘good mothering’ (Rich, 1976) stories, in which mothers nurture and nourish their children. As a result, some mothers experience judgment from the broader social community as not providing preservative love and nurturance (Currie, et al., 2024).

Behavioral challenges in PWS also contradict ‘good mothering’ practices of social acceptability and appropriate social behaviors. In most cases, no number of interventions or training will change the behavioral issues for children resulting in lack of acceptance and tolerance in many social situations (Singh, 2022). Mothers of children with PWS are caught in a bind with being unable to offer satiation and nurturance to their hungry children and having children who are predisposed to behavioral challenges. Therefore, there is a need to consider the intersections and complexities of mothering and care to better understand and support parents in caring for children with PWS.

During this inquiry, the dominant social stories of mothering and caring for a child with complexity and rarity were expanded and reshaped. Guiding questions for this study included: What are the experiences of mothers caring for a child with Prader-Willi syndrome? What is it like to mother a child with constant hunger and hyperphagia? How do ideals of ‘good mothering’ shape the experiences of mothers of children with PWS?

Methods

This study was a narrative inquiry, situated in the tradition of Clandinin and Connelly (2000). Within this research methodology, knowledge arises from inquiring into everyday experience which provides insight into an individual’s unfolding life (Clandinin & Caine, 2013). Inquiring into everyday experience is grounded in the philosophical foundations of Dewey’s theory of experience (1938). The focus of a narrative inquiry is to understand human interactions and transactions with the environment (Clandinin & Connelly, 2000). Narrative inquirers negotiate and write narrative accounts of experience that attend to the temporal, social, and situated dimensions of experience. These storied experiences are considered alongside broader personal, social, institutional, cultural, familial, and linguistic influences (Huber et al., 2013), to make visible resonant narrative threads (Clandinin, 2013). Ethical approval for the study was obtained from the University of Calgary (CHREB # 21-0761).

Recruitment and Sample

Following institutional ethics review and approval, participants were recruited using purposive and snowball sampling (Creswell, 2013). Participants were recruited from national and provincial PWS support groups. Participants were eligible for inclusion in the study if they were caring for a child between the ages of 3–17 years with genetically confirmed PWS, who was experiencing insatiable hunger and hyperphagia. Four participants were recruited for the study. This sample size is appropriate to enable longer-term relational engagement and depth of inquiry into experience (Clandinin & Connelly, 2000).

Data Collection and Field Work

Written informed consent was obtained from participants before conversations began. Eight to 12 conversations occurred with each mother between July 2021 and June 2022. The inquiry space, boundaries for the study, and time commitments were negotiated with the mothers (Clandinin, 2013). Conversations were confidential, and pseudonyms were used. Conversations were tape-recorded and occurred over a secure Internet platform. Open-ended questions were used to explore mothers’ experiences. Field texts (Clandinin, 2013; Clandinin & Connelly, 2000) consisted of conversation transcripts and artifacts such as journal entries, poetry, photographs, personal notes, and letters.

Data Analysis

Field texts were co-composed with participants through an engaged and collaborative process. The researcher shared the field texts with each participant and adapted and reshaped the interpretation of the conversations after receiving feedback from the mothers. This included iterative processes of clarifying, reading, rereading, and interpreting field texts alongside participants (Clandinin & Connelly, 2000). The participants’ narratives of daily life were also shared for feedback and further shaping with each mother and then co-composed into narrative accounts (Clandinin, et al., 2014). These narrative accounts provided understandings about the meaning and significance of experiences for mothers caring for a child with PWS. From the narrative accounts, narrative threads were synthesized from reading and rereading the accounts and finding meanings that wove in and out of the accounts (Clandinin, 2013). Narrative threads weave together similarities, tensions, and distinctions in the narrative accounts (Clandinin, 2013). In the development of narrative accounts and subsequent narrative threads, special attention was given to common places of temporality, sociality, and place (Clandinin, 2013).

Findings

Listening to mothers’ stories and being engaged with them over time revealed many tensions and complexities in their experiences of caring for children with PWS. The mothers’ stories spoke powerfully to their inability to conform to the rigid narratives of mothering, not necessarily by choice but by circumstance from unrelenting care needs. This led to navigating tensions between coherent (what is expected) (Crites, 1971) and incoherent narratives (what is atypical and not expected) (Bruner, 2004). Engaging with participants’ daily experiences offered insights into their work of nurturing, caring, sustaining, and contributing to the care of a child with PWS. Narrative threads that resonated across participants’ stories showed the challenges of mothering a child with complexity and rarity. These tensions included how ordinary becomes extraordinary, isolation from complexity and rarity, behaviors and normative standards, and alternative stories of mothering.

Ordinary Becomes (Extra)ordinary

Participants in the study described how their ordinary, everyday experiences could take on qualities of the extraordinary. Sometimes mothers’ experiences and mothering practices were ordinary and over time became (extra)ordinary. The (extra)ordinary came to light shortly after the birth of her child for Helene. Helene said she could not enjoy her newborn daughter with the medicalization and pathologizing of her child who was seen as complex and rare.

“I wasn’t able to just enjoy my baby because everything had another meaning, you know? Everything . . . it is like everything was pathologized and that is such an icky feeling, like can I just be a mum for a minute?”

Helene shared an emotional story about Dani’s birth and her child’s subsequent admission to the NICU. She grew angry as she expressed how the medical team communicated that something was wrong, and yet they did not know what. Helene described her experience of focusing on her child and the beauty of her child and not wanting to see the problems and medical issues.

The moment someone else looked at her and they saw it—her difference—it would force me right back to the level of being, “Argh! Why?” So for whatever reason I just took issue with it, like no, I could see it. It is not that I couldn’t see it. It is just, I didn’t want to see it.

Helene also expressed the tension when she was given the diagnosis of PWS and the loss of the ordinary:

“… for me it was not like once we got the diagnosis it was like, oh, all right, and then we got to go on with normal life. I feel like our life is abnormal always, and it never will be not abnormal. It is not normal to not feed your child.”

Mothering and hands-on mothering practices are ordinarily linked to care with a newborn and young child (Fisher & Tronto, 1990). With a child with complexity and rarity, the physical hands-on care of a child is always required even when the child grows and develops. Cherie participated in life as much as she could, but this required structure and planning and what she called a sequence of events that were necessary so things could move forward without chaos.

Our non-work time still has to be planned. There has to be a plan, like there is no getting up and being like, oh, I think I will do nothing today because that doesn’t happen. . . . sometimes you get up and you are like, God, I am so tired and too bad this, and this, and this is on the list, because I would rather have a sit in my pajamas day, but we can’t shift it so quickly like that—well we can, but the outcome is usually detrimental to our mental wellness …. It is very scheduled, for a break!

Giuliana also shared how mothering becomes (extra)ordinary when she was asked to describe the difference between mothering a neurotypical child and a child with PWS:

Having a child that will leave the home, would have not weight issues, wouldn’t have the care that is required. I wouldn’t have to worry about her future once I am gone, you know? Just a much more carefree existence, and like, “You want that f..ing Kool aid? Go ahead.” Not all the time, but not looking at every single grocery label.

Isolation From Complexity and Rarity

Participants shared how their child’s complexity and rarity led to isolation as caregivers. They spoke of having to draw on their own capacity as individuals to manage the unrelenting hyperphagia and behaviors associated with PWS with few supports outside the home.

There was an overall lack of regular support and no social safety net to replenish the mother’s depleted emotional and physical energy stores. Giuliana shared, “It adds that extra layer, like one of us is responsible all the time, like us mums or our spouses. We are never going to be off the hook.” Cherie also expressed that she felt responsible for her child’s behaviors and if her daughter’s behaviors were not stable or were worsening it had something to do with how she was mothering.

So when something that is tried and true and doesn’t work and my parenting doesn’t work I kind of think it is the way I am doing it or I am delivering it because I have 17 years’ experience doing this so I should be good at this, even though it changes every freaking day!

Without outside support, Cherie spoke of isolation between parents as caregivers, as someone always had to be providing care to the child with PWS. The care of the child with medical complexity was often the responsibility of the mother, and this caused tension for partners with ongoing responsibility for caregiving.

I do find that often we are isolating ourselves from each other … you have to push yourself away from your spouse because that person has to go into a caregiver position all the time—or most of the time. I have to isolate myself from my husband because someone has got to stay home.

Giuliana expressed the extra expectations and responsibilities on parents of children with complexity.

Society won’t look after them, and it was your choice to have them! So we have to prepare them, make more provisions and make sure they are set up financially much more than a kid with normal needs because then I am going to have to be Keely’s legal guardian at eighteen.

Mina also shared the tension between how she shows up publicly and what she carries in her private world in caring for a child with PWS. She voiced her isolation with mothering a child with complexity and how difficult it was at times.

I was literally in isolation because I didn’t think any of the other parents had this sort of stuff going on. I didn’t want to scare anybody because maybe my daughter is . . . maybe this is just her and not all the kids are like that.

The mothers in the study also discussed that some friends and family expressed discomfort with the rigid food routines. Cherie specifically shared the push back she received from others regarding her rigidity around food:

So, when they [others] are like, “Can’t Imogene just have the cookie she is making in class?” No, she can’t. “Ever?” She can’t. And then we get the “Oh, you are such a hard parent,” and like, am I? “I am actually protecting my daughter’s life!”

This led to further social isolation and lack of regular engagement with only having select friends and family members to share holidays and manage the difficulties with hyperphagia and anxiety. As Cherie expressed, “We have to select the people that we can be with for social occasions because it is so hard …. I think it just says that we have to be more strategic, but we are also more isolated.” Few people reached out and embraced the difficulties with the family, or the family had lost connections with others because of the time and work required to care for their children. Mothers were expected to manage their child’s disability and often could not have the same kind of social connection and social experiences with others. Giuliana shared why she did not discuss the realities of caring for a child with PWS:

I don’t want to go into the depths of what exactly it represents being a special needs mum. They [other parents] may get it, but it is like, no matter what you think it is, it is so different. What you are going to worry about when your child turns sixteen is going to be so much different than what I am going to worry about.

Mina also shared isolation she experienced from misunderstandings from others: “It is hard and people don’t understand. It is hard to just explain that [the challenges of PWS] to people; I don’t know how to articulate that to people who aren’t in it.” Complex, struggling, or overwhelming parenting experiences were often outside norms of mothering narratives and led to misunderstanding and judgment. Mina discussed avoiding the shame from others.

“As parents to avoid shame or difficulty, we disguise it, or shield it, or we protect people from it. We try and minimize it and try and prevent meltdowns, so nobody ever really gets how bad it can be, right?”

Helene also shared that she often hid her experience as a mother caring for a child with complexity because of lack of understanding from others: “I already feel we hide—because we hide the bad stuff—that makes me feel a lot of guilt.”

Behaviors and Normative Standards

Mothers of children with PWS expressed the pressure to align their children’s behaviors and functional abilities, against the construct of normalcy and meeting these ideals within society (Frederick, 2017; Lalvani, 2019). Cherie shared the pressure to have good children with good behaviors and how she had integrated these ideals within her own expectations of parenting and good children: “I will get in my brain and annoyed at things Imogene is doing because I might perceive that people are judging me for that [her behaviors].” There was also a sense from mothers that their children’s behaviors were measured against normative standards instead of seeing them as a function of the brain and body with PWS responding differently to stimuli. There was little recognition from others that these differences in behavior were neurobiologically based and that PWS children were rarely going to display neurotypical behaviors (Singh, 2022). Participants expressed that narrowly defined criteria of normal behaviors were used to judge their children’s behaviors and were insufficient to include the unique needs of their children. As a result, they described that their children’s behaviors did not measure up to what was expected by others. Mina described the judgment she felt from others when her child exhibited incongruent behaviors: “There are no words that I can use to explain how I feel when I witness other people staring at me because of what my child is doing.”

Participants spoke of few medical and psychological supports to manage the behaviors and consequently they were at a loss to know how to deal with the behaviors. Mina shared:

I am always like, “So what do we do with these behaviours?” and they [medical providers] are like, “Well I don’t know!” Like what exactly are you treating then? Are you treating Prader-Willi, or are you just treating the growth, which really, it is nothing!

This lack of appropriate medical support to manage behaviors led to further isolation. Mina elaborated, “I am like who do I talk to about these things because these are equally as challenging, if not more challenging! Who do I talk to them about?” Helene expressed her frustration that physicians do not know how to treat the medical or behavioral manifestations of PWS, and this was a significant limitation.

People in the rare disease community get bad healthcare because often physicians are like, “We don’t know much about it.” Like, when was the last time you looked to see if something new had been published? Yeah, you went through med school and then there was nothing going on but have you even checked to see that there is nothing worth even trying?

In addition, medical and educational measurement tools used to assess PWS children are framed using normative standards and defined endpoints (Georgiades & Kasari, 2018). Participants in this study felt their children with PWS were often outside these standards, leaving them feeling excluded and objectified. Helene discussed the pressure for children with PWS to measure up to medical and educational thresholds of ‘normal’ with measurement tools that assessed their children as lacking or failing to meet these normative standards.

I hate those things because I find they exist for the sole purpose of reminding you of all the things that aren’t working, as opposed to spending some time thinking about what is working? What are her strengths and how do those strengths rate?

Parents were responsible to manage their children’s behaviors according to unrealistic norms of behavior or their children were labelled as having bad behaviors. Participants related stories of alienation and isolation when their children exhibited atypical or taboo social behaviors. Cherie relayed the social discomfort around skin picking.

Picking at your skin—they are behaviours that are taboo, almost. So I think that is really particularly isolating … and people don’t like that, and maybe that is why we label some things “behaviors” like when they cross into a zone that makes other people uncomfortable then it becomes a behaviour …

The untenable expectation for children with disabilities to conform to social norms sets unrealistic expectations and benchmarks by which parents measure themselves. As Helene shared, “And you know, I am sure there are a lot of neurotypical kids that aren’t hitting those milestones, but they are not forced into a system where they are constantly assessing them.” Helene expressed a tension between needing tolerance from others to live in the world with functional supports for children focused on what they could do and what was meaningful for the child and family. Helene felt there was instead a focus on difference as pathology and dysfunction. There was tension with ideals centered around individualism and self-sufficiency, and lack of tolerance for difference, as Helene mentioned: “Creating a world where we have space for more types of people is definitely the right thing to do, but that is not what is happening.”

Tension to Be Normal

Mothers made sense of their parenting practices and parenting ideals through a sociopolitical lens that established norms for ‘good’ mothering and ‘good’ children (Frederick, 2017; Tabatabai, 2020). Mothers shared narratives of caring for children with PWS while striving to meet imposed standards of normal and their understanding of how mothering is meant to be. Tension was experienced when trying to meet external social, moral, political, and cultural expectations, particularly when caring for a child with PWS. Mina described the experience of not telling others how hard it was in her house managing the hyperphagia, anxiety, and aggression.

Yeah, it is a hard road to walk along and you feel bad telling people that it is hard, you don’t want to tell people it is so bad, you want to … you just want to sometimes just be normal, right? That is where that shame comes from, like can’t I just be normal? Can’t I be like all the other parents?

Giuliana also talked about the lack of normalcy she felt in her everyday life with her daughter’s complex care needs.

I just wish I could actually have a normal day and what it would be like? My God, I don’t know what that would be like with a child that is neurotypical! I am jealous that I wouldn’t have to get her to education therapy, I wouldn’t have to do this and I wouldn’t have to do that, but . . . you know, you deal with the cards you are dealt, but sometimes it sucks! No, not sometimes, it always sucks.

Participants described the pressure to present socially as a normal mother, a ‘good mother’, a mother who could handle the difficulties and challenges of caring for her child. Participants strove to reach the ideals of ‘good mothering’ with patience, nurturing, and nonreactivity in the face of unrelenting hyperphagia, anxiety, frequent tantrums, and difficulty interacting in life. Mina expressed the wish to be normal and her feelings of failure when a lack of normalcy was exposed: “You try to be those normal parents and then some bump in the road happens and you are like, oh shit, I am not! And now everybody knows it.”

Participants also struggled to navigate and manage social expectations regarding mothering and social behaviors in the public sphere. Mina discussed the unrealistic pressure she felt to keep it all together all of the time, particularly in the public sphere: “No one congratulates the mum that is freaking out and melting down, that they are doing a good job all the other days from that hour they are not, right?”

Social pressure and social expectations kept mothers struggling with unrealistic roles. Participants were not only supposed to meet these roles, they were also to maintain a façade of social normality, acting as though there was nothing particularly different about the demands on them as mothers (O’Hare et al., 2021). This façade did not provide a space to have a different experience. Instead, mothers internalized and judged themselves against societal expectations of normative mothering and felt pressure to conform to them. Mina revealed what she hid from others:

It is just a façade! I don’t have it all together and I lose control and meltdown and all those kinds of things just like everybody else and we don’t like to tell each other! We don’t want to say we are not keeping it together today!

Participants kept their everyday lives hidden for fear of negative feedback from others and measuring themselves against dominant societal and personal expectations. Cherie mentioned, “I do think we feel the judgement of society because there are lots of times when Imogene does something and I am like, that is just how she is, that is just how she rolls.”

Participants also spoke about their silenced stories, which were often disruptive or incoherent in relation to more dominant stories about mothering (Clandinin et al., 2010) and ‘good mothering’ (Rich, 1976). Mothers shared their experience of shame and secrecy from not meeting these social and cultural expectations. Mina shared the pressure to conform to expectations of mothering: “I can’t let anyone know I can’t do this, right?” Helene expressed the toll of these expectations if she did not remain calm with her daughter’s escalation of anxiety and perseveration: “I have a lot of guilt over my own feelings, and I feel ashamed, like my God, you should have way more capacity than you do.” Mothers also discussed not being able to talk to other PWS mothers about the difficulties. Giuliana referred to mom shame that had occurred while sharing some of her daughter’s behaviors and her difficulty with managing the behaviors with other moms on the PWS Facebook group.

Alternative Narratives of Mothering

Participants shared events or happenings that were incongruent with general understandings of family life and ‘good mothering’ and challenged structural norms of parenting. The incoherent narratives were misaligned with narratives that had resolution or restitution (Frank, 2013). Participants described unanticipated journeys of parenting and caring for children with complex needs which they were not prepared for. Cherie described the relentless responsibility of mothering her child: “I don’t think we get that ability to know that they are okay because they will never be okay, ever, and that is our reality.”

The stories participants shared about their lives no longer made sense from what was known about mothering and expected of mothers. There was tension with dominant stories of ‘good mothering’ and meeting measures of competency in handling whatever came their way, with the realities of caring for a child with complexity. These incoherent narratives began with the diagnosis of PWS and the life-changing behaviors associated with the diagnosis. Helene described, “When we got the diagnosis, no matter how horrendous and terrifying and awful it was, there was no . . . there is no option.” Mothers also shared stories of living with overwhelming behaviors from their children. Mina shared how hard it was to care for her daughter at one point with the aggression and violence.

It was so bad. I was calling our social worker, like, weekly, in tears, like, “I can’t do this,” and if I don’t get help . . . I was at the point where I might just drop her off at the Children and Family office because I couldn’t do it. So much violence towards me and swearing and hitting and so brutal.

Giuliana also shared how hard it was to care for her child. Her use of the language in the trenches depicted the difficulties and challenges with a sense of being in battle and a target for unrelenting behaviors: “I don’t have it all together . . . I absolutely find myself in the trenches in terms of like, holy fuck, I am going to lose it on this child. I don’t understand this. Honestly, this is so hard!”

Wanting an Out

Participants shared hidden stories of struggle. They described how society can sometimes view them as brave warriors and supermoms in handling the unrelenting care needs of their children. The metaphor of the supermom has the ultimate allure of self-sacrifice and selflessness and fighting for one’s child, even with unattainable and unrealistic outcomes. Mina shared the incongruence from being labelled an amazing parent and the reality of what she had to deal with:

You know, like you are faced with this situation, like you just … you have to deal with it, you don’t have any other choice, right? That doesn’t make me an amazing parent, that makes me do what I have to do! Do I love doing it? No, like … I don’t like having to lock my fridge. No.

Mina further revealed the incoherence of the supermom metaphor with loving your child and simultaneously holding the tension of not wanting PWS: “And sometimes I don’t want to be Sadie’s mum and then I feel bad that I even thought that.” Mothers wished they had an option to not always be the responsible caregiver and would take an out if it was available. As Helene stated, “I don’t feel like a brave warrior. I know what I am doing is a lot, but if you give me an out I will take it you know?” She elaborated further:

I had my ideals of what that would look like, how I would parent and what kind of parent I would be and I explicitly had pictured my parenting experience as not a special needs mum. Like I told you, I would have had an abortion if I had known, it was not a journey that I wanted to go on.

Mina further elaborated on the difficulties and the impact it has had on her. She revealed some of the darkness: “Probably a couple of times a year I shut the door and the curtains and pull the covers over my head and stay in bed all day and cry myself into misery.”

Secrecy

Participants revealed they held secrets about their struggles with caring for their children which they kept from extended family members and others. Mina shared, “we do a really good job of hiding a lot of Sadie’s Prader-Willi.” She elaborated further on secrets she keeps and why: “But what do you say when people say, ‘How are you doing?’ So many times I have lied. Sometimes I don’t want to talk about how hard this is!” Giuliana also concurred, “We don’t talk about it. . . . . it is a mask, like when someone says, ‘How are you?’ like do you really want to know the honest answer?” Conversely, Helene thought mothers should be sharing how difficult it was to manage PWS when she said:

I try to be really open with people about our experience because I think that is part of the problem, we live in this world where people with special needs . . . like there are all kinds of marginalized people who have to have their existence behind closed doors and not make other people uncomfortable. So, I reject that and try and push back against that.

In addition, participants did not always share how hard it was to manage their children with other parents of children with PWS on Facebook groups. As Helene shared:

But maybe they are thinking that if I say it out loud that means I love my child less, you know? You are not saying anything negative about your child; you are saying that PWS sucks and you wish your child didn’t have it. Why wouldn’t you be able to say that?

Giuliana shared her reluctance to let her friends know how hard her life was because of the incoherence from others and ultimate rejection.

[T]here is no going back from that because when you put it all out there … You protect yourself from being too vulnerable with other mums because the other mums might just get so scared of what you said to them that again, you will just be more isolated because you won’t even have them to share the fun stuff.

Mothers shared secret narratives and did not discuss with others how hard it was to care for their children.

Discussion

Inquiring alongside mothers as their experiences unfolded and were co-composed within the study facilitated a “deeper noticing” and “greater reflection” (Caine et al., 2018, p. 141) of families’ lives, struggles, strengths, and complexities. This deeper noticing provided an opening to shift understandings and perspectives of mothers’ experiences and resist prescribed social, cultural, and healthcare narratives of mothering and caring for children with complexity and rarity. These are not the preferred stories of mothering, but they are real, raw, and experienced by mothers caring for children with PWS. Building on these experiences, four key recommendations were co-developed, namely, (a) recognition of challenges of mothering a child with complexity, (b) moving beyond functionality and impairment to participation and quality of life, (c) re-storying narratives and supports for families, and (d) engaging with mothers to determine care priorities.

Mothering a Child With Complexity

The stories spoke of the mothers’ inability to meet rigid narratives of mothering, not necessarily by choice but by circumstance. From unrelenting care needs, and overwhelming circumstances framed against ‘good mothering’ and ableist ideals of how children and caregiving should be, came guilt, shame, and judgment. Mothers in the inquiry expressed stories of judgment on themselves from failing to live up to internalized social expectations. The dominant dependence on mothers as primary caregivers of children with medical complexity excuses the larger social and political contexts beyond parents’ abilities and serves to create and sustain unrealistic expectations for mothers (Knight, 2013; Muir & Strnadová, 2014). Dominant narratives of mothering and care work also provide incomplete narratives of the experience of mothering, including mothers caring for a child with complex needs (Tababatai, 2020). Other scholars have also described the experience of caregiving and mothering with discrepancies in the private life and the public sphere, and the idealized presentation of self as mothers (Brock, 2017; Douglas et al., 2021; Liss et al., 2013).

Mothers shared the unrelenting practices in caring for their child’s medical and behavioral challenges and the medical and social expectations that were placed upon them. Within the ‘good mother’ ideology (Rich, 1976) and the intersections with ableism and neoliberal constructs is the expectation that mothers and parents of children with disabilities are responsible for all aspects of the physical, mental, and behavioral care associated with the complex needs of their dependent children (Ryan & Runswick-Cole, 2008; Tabatabai, 2020). In the context of parenting a child with PWS, managing the medical and behavioral care needs can be unreachable and reducing the dependency of their children can be unreasonable as mothers and parents can rarely change the medical and behavioral outcomes for their children (Currie et al., 2024). There are many other complex neurogenetic disorders that converge with PWS because of medical, social, and behavioral challenges (Reilly, et al., 2015; Thompson et al., 2017). PWS, however, has unique nuances with social complexity surrounding access to food and the social conditioning around food. Behavioral challenges with hyperphagia and managing food in all environments make PWS particularly challenging for caregivers (MacKay et al., 2019; Tan et al., 2020). In addition, individuals with PWS have one of the highest incidences of maladaptive behaviors and psychiatric issues over most other neurodevelopmental disorders (Kayadjanian et al., 2018). Mothers are placed in a conflicting position by keeping their children healthy and alive with restriction of food, lack of choices, structured and supervised activities and routines, and denying additional food to their hungry child.

In addition, the expected narratives of mothering do not always provide insight into the experience of caring for children who require intensive intervention and management. Complex, struggling, or overwhelming parenting experiences are rarely coherent within mothering constructs leading to misunderstandings and judgment. This is congruent with the experiences of mothers with disabilities who are often judged by others when they are not coping with the demands of being caregivers (Carpenter & Austin, 2007; Robertson, 2014). The ‘good mother’ adapts and thrives with adversity and self-sacrifice (Runswick-Cole & Ryan, 2019; Sousa, 2011). As a result, mothers may not share their struggles and difficulties for fear of being misunderstood and judged (Carpenter & Austin, 2007). Within this study, mothers shared the struggle and incoherence of caregiving and occasionally used battle metaphors when describing care as occurring “in the trenches.” These types of metaphors are often used when describing the experience of chronic illness or cancer (Demjén & Semino, 2016; Hauser & Shwartz, 2020). In caring for children with PWS, these metaphors speak to the unvoiced experiences of caregivers who are also suffering from lack of support and ongoing struggle. These caregiving expectations, and the general lack of understanding and support for parents caring for children with disabilities, can lead to disconnection for mothers and increased vulnerability (Fernandes & Robertson, 2019; Robertson, 2014). There needs to be a shift in understanding the demands of caregiving with realistic expectations; this includes openness to various ways of being, including differences in caregiving and raising children (Goodley et al., 2022).

Pathology and Impairment Versus Participation and Quality of Life

With the dominant medical model of care, mothers spoke of a focus on ‘normal’ growth and development and returning to a state of functionality (Goodley et al., 2022; Rosenbaum & Novak-Pavlic, 2021). The restoration of normalcy (Oliver, 1990) has perpetuated the medicalization of disability and the attention to impairments and deficits, with the goal to cure or ameliorate the disability of the child (Lalvani, 2019). Mothers also spoke of the pressure and a social expectation to mold children’s bodies, behaviors, and abilities into normative standards. PWS is a complex rare disorder with very few neuronormative medical, behavioral, and social parameters (Singh, 2022). These neuronormative and ableist measurements and endpoints of growth and development and social behaviors do not consider the complexities of PWS and other NDDs and the need for a broader space for variation, difference, and diversity (Fayad et al., 2018; Georgiades & Kasari, 2018; Lalvani, 2019). The focus instead needs to shift and promote participating in life in ways that are developmentally appropriate to the child’s needs, rather than concentrating on limitations (Miller et al., 2023; Rosenbaum & Novak-Pavlic, 2021). This requires an expansion beyond the medical model of disability and disease to focus on the factors that are important to children’s development and participation in everyday activities. Frameworks such as the “F words of disability” (fun, function, family, friends, fitness, and future) consider interactions between the physical, mental, and social health of children and families that encompasses the entire life-course (Rosenbaum & Gorter, 2012, p. 457). For this, we need to consider the interaction and connection between body structure, function, activity, participation, personal factors, and environmental factors in determining health and quality of life.

In addition, mothers described a lack of focus by providers on how children with PWS and their parents live in the world and the support they need to experience a life of quality. This requires a shift toward contextualized and relational ways of understanding and accepting diversity and a move from meeting benchmarks of normality (Lester & O’Reilly, 2021). Engaging and building a relational system of support begins by checking in with families during medical and provider appointments and asking caregivers to share their stories of caring for their children. There is a need to design supportive spaces and places for relationships to develop, so parents can disclose what they want to talk about, including the difficulties of the journey, and create an ordinariness that is acceptable to families. This could include providing a safe, supportive space when families are fragile and overwhelmed. There should be recognition that mothers may also need support. Mothers and caregivers are generally unseen in their daily care work, yet providers need to recognize them and offer support and referrals to community-based services as needed (Arendell, 2000).

Re-Storying Narratives and Systems of Supports for Families

There is a need for families and providers to re-imagine and re-story realistic expectations and narratives of mothering a child with unrelenting complexity. Mothers described stories of being overwhelmed with the care of their children and chronicity of the disorder. There needs to be a move from a focus on the individual impairments with PWS and how these are managed by parents to the development of larger systems of social support (Goodley et al., 2022). Recognizing neurodiverse behaviors and the difficulty of managing medical needs and behaviors with PWS (Thomas, 2020) includes a shift from pathologizing to building and providing appropriate supports, structures, policies, and systems to manage difficulties. This will require a move from a focus on individual responsibility for managing all complex care needs to developing systems of support as a collective social responsibility for families (Douglas et al., 2021; O’Reilly, 2016; Runswick-Cole & Ryan, 2019). Models of support and practices can be co-developed with parents within systems and sectors to support families to meet their complex care needs, that include approaches and strategies that work for families (Fayad et al., 2018). This will require parent perspectives in the co-design of systems of support and care models through research, policy, and practice in addressing care priorities (Pozniak et al., 2021; Smits et al., 2020). This also includes managing conflicting and changing priorities for the family caring for a child with PWS over time and circumstances.

Voices of Mothers

Long-term engagement and coming alongside participants during day-to-day life has reinforced the need to provide voice to mothers as caregivers with experience in the intricacies of living with PWS (Smits et al., 2020). Lived experience and knowledge must be valued by creating space for the important voices of all mothers. Mothers’ experiences and stories can apprise providers regarding the intricacies of caring for their children and inform interdisciplinary and interprofessional landscapes (Lindsay et al., 2016) that often determine research and care priorities. Relating with mothers and providing the space for them to voice what is important and what would be helpful could inform current practices and landscapes for providers working with families caring for children with PWS in multiple settings (healthcare, social support, disability supports, and educational facilities) and disciplines in recommending supportive and appropriate health and social care resources and practices.

Conclusion

Insights from the storied accounts of mothers caring for children with PWS may disrupt entrenched discourses of mothering a child with a disability and hold more expansive knowledge on the discourse of caring for a child with complexity. These shifts in understanding contribute to stories of mothering, living, and caring for children and reflect the complexities of families coping with lifelong diagnoses. Mothers’ experiences are unfolding and being re-storied over time and contexts; thus, experience is reconceptualized with the telling and personal insights from sharing experience (Olson, 1995). Stories need to be shared and honored to compose stories to live by that reflect the complexities of families coping with lifelong diagnoses. The stories and experiences can be named and are no longer nameless (Lorde, 1977); hence, they can be part of the larger discourse of mothering. There is an opportunity from this inquiry and the mothers’ experiences to invite people into recognizing the complexity of caring for children with PWS and add to our present knowledge of caring for a child with PWS.