The experience of parents of children with Sanfilippo Syndrome

Dissertation submitted as partial fulfilment of the Degree of MSc in Family and Systemic Psychotherapy, Birkbeck College, University of London, in Collaboration with the Institute of Family Therapy.  William Howie, May 2008

Abstract: Interpretative Phenomenological Analysis (IPA) was used to explore the experiences and understanding of two parents of children with Sanfilippo Syndrome (SS), a mucopolysaccharide storage disorder (MPSD) and challenging behaviour (CB).  The accounts put CB in context as the presence of disability and a life-limiting disorder contribute to the formation of a unique but little studied culture. Four themes of difference, relationship to help, emotional response and adaptation were revealed in the analysis and are discussed. The participants discussed how they felt different and were treated differently and how they understood this. The experience of help and how their relationship with this has changed revealed complex and evolving relationships. Emotional responses are discussed with reference to the bereavement response. The process of developing knowledge and skills as the parent of a child with a disability is analysed in the context of the family’s strengths. The value of family therapy for families where a member has a disability has long been recognised. A better understanding of this unique culture enhances the value of systemic work with these families, as systemic thinking has in recent years increasingly recognised the importance of context in therapy.

Keywords: mucopolysaccharide, Sanfilippo Syndrome, disability, childhood illness, interpretative phenomenological analysis, parent, qualitative, challenging behaviour

Introduction

Sanfilippo Syndrome (SS) is one of the Mucopolysaccharide storage disorders (MPSDs) with an incidence of 1 in 85,000 live births (Society for Mucopolysaccharide Disorders, 2008). MPSDs are a group of rare, heritable, genetic disorders caused by a deficit of one of a number of enzymes present in lysosomes and responsible for the degradation of certain complex carbohydrates called mucopolysaccharides. This deficit results in the build-up of deposits of mucopolysaccharides that damage the body’s organs, and can markedly change the physical appearance of the person affected. It is usually not evident at birth, but in due course the child develops physical and mental changes that usually result in death before reaching adulthood. Associated conditions include epilepsy, diabetes, hyperactivity and insomnia. Some subtypes can be effectively treated with enzyme replacement therapy or bone marrow transplant, but in SS treatment does not interrupt the cognitive decline. Although the disorders can present in radically different ways the common biochemical basis and common interests and experiences of the families have led to the formation of a support group called the Society for Mucopolysaccharide Disorders (MPS).

Challenging behaviour (CB) is an expression coined by Professor Eric Emerson and colleagues (Emerson et al. 1988), which they define as follows:

“Behaviour of such intensity, frequency or duration that the physical safety of the person or others is placed in serious jeopardy or behaviour which is likely to seriously limit or deny access to the use of ordinary community facilities.”

The term was chosen to describe a situation rather than an individual and to avoid labels implying value judgements. In Sanfilippo Syndrome, during the course of the progression of the disease, challenging behaviour is frequently an issue (Bax and Colville, 1995; Colville and Bax, 1996; Colville et al, 1996; Nidiffer and Kelly, 1983).

In families where a member has a disability the impact of stigmatisation of people perceived as being disadvantaged is an important consideration that has long been recognised (eg Goffman, 1963). Goffman distinguished between “felt stigma” or feeling different and “enacted stigma”, the experience of being discriminated against. Children with disabilities and their families have been, and remain particularly vulnerable (UNICEF, 2005). Part of the movement to challenge this stigmatisation involves valuing the experiences not only of all children but also of their families.

Government initiatives have increasingly valued the parental and carer experience where a child has a disability (Department of Health, 2004), recognising the value of this expertise in directing the allocation of resources.

There is a rich literature about families with children with various chronic medical conditions and disabilities.

Beresford and colleagues at the University of York have been interviewing parents of children with disabilities in order to be able to inform health and social care policy. Beresford (1994 and 1995) interviewed 20 parents of children with differing disabilities and the data were analysed using a qualitative methodology. The qualitative methodology had the important advantage of facilitating the discovery of new themes. Beresford’s main findings were:

-that parents thought of themselves as parents and most rejected the notion of being a carer

-the pleasure and satisfaction gained through the relationship with their child drives their ability to care

-that parents found that the stresses associated with caring for their child were wide-ranging, unrelenting and sometimes overwhelming

-parents worked actively to find solutions to the stresses using a range of strategies

-parents valued services which respected their family life

-parents valued informal and formal support but it increased their stress when it was unsatisfactory

-having a disabled child was not always the most stressful aspect of their lives.

Over time there has been a progression in the literature from the perspective of a deficit model (Olshansky, 1962) to a more systemic perspective. Early family systems thinking about disabilities was contaminated by parent-blaming approaches such as the notion of the “double-bind” implying that the child’s problems derived from the parents’ communication style (Bateson et al, 1956). Progress has coincided with an increased recognition of the voice of families (Turnbull, Brown and Turnbull, 2004). Profs Turnbull and colleagues were among the first to consider how systems theory applied to families of people with learning disabilities, noting the role of membership characteristics, cultural and ideological styles in creating the unique character of each family (Turnbull et al, 1986). A member of the Turnbull family has multiple disabilities. More recently Stainton and Besser (1998) have specifically focussed on the positive contribution of children with disabilities.

By contrast support organisations have long valued the experiences of parents. Contact a Family, an organisation for children with disabilities and their families, published “We’re listening” in 2003 (Chandler, 2003), their report of the results of a survey of parents’ thoughts about resource allocation for families with children with disabilities.

The work of Joan Bicknell (1983), with its focus on the “bereavement response” and the consideration of how professionals can help in the process of grieving, contains moving quotations from parents of children with intellectual disabilities. She notes that some parents spontaneously make “a positive growth experience” out of their situation, and argues that one of the roles of services is to enable more families to have positive experiences.

There is a tendency to assume that all families of children with disabilities and chronic conditions are the same so the work of Ricci and Hodapp (2003) is of particular interest in that it compared the experiences of fathers of children with Down’s Syndrome and a control group of parents of children with intellectual disabilities, demonstrating that the father’s experience reflects the nature of the child’s condition and within that condition the parental experience reflects the character and behaviour of the individual child. Hornby (1995) also commented that the generally positive attitude of fathers of people with Down’s Syndrome contrasted with more negative descriptions in the literature.

The work of Smith and colleagues (Smith et al, 2006, Brewer et al, 2007) is particularly relevant as they conducted ten interviews of parents/carers of young people with Juvenile Huntington’s Disease, an inherited condition associated with degeneration like MPSDs but with onset later in childhood or young adulthood, and where a parent had usually had the same condition. The main areas of interest that they found using the qualitative analysis technique, Interpretative Phenomenological Analysis were; carer perspectives on the natural history of the condition, the psychosocial impact of the condition, and themes of support. In the first paper (Smith et al, 2006) they discussed themes relating to the condition; first becoming aware something is wrong, physical symptoms, speech and communication difficulties, behavioural problems, and a slow but relentless process. The second paper considered how the parents of children with Juvenile Huntington’s Disease experienced and viewed support, noting that not only the support but also that how parents perceive that support is important. The authors discussed their results in the context of the observations of Suls (1982) who picked out rare diseases and debilitating diseases as ones where social support may be particularly problematic, and Batson (1975) who challenged that approaches which might imply blame of the person seeking help could be frustrating and destructive.

Interpretative phenomenological analysis (IPA) is a qualitative method of data analysis, which concentrates on in-depth analysis of personal accounts, concentrating on the subjective experience of the participant. This makes it suitable for examining the psychosocial issues in a new area of investigation (Smith, 1994; Smith 2003; Smith 2004; Smith and Eatough in press). Smith (1994) refers to the “double hermeneutic” acknowledging that the researcher’s own ideas and experiences inevitably influence the way that they experience and interpret the data and understand the subjects’ experiences and their interpretation. This can be managed to a significant extent by appropriate self-awareness, supervision and cross-checking as indicated. It is acknowledged that subjectivity can never be eliminated but by making the process as clear and explicit as possible the subjectivity is accounted for.

Family or systemic therapy has been recognised as having great value for families where a member has a disability for many years (e.g. Berger and Foster, 1986). More recently Baum and Lynggaard (2006) have collected modern perspectives. Functional analysis and behaviour management are established methods used to reduce challenging behaviour (Sturmey, 1994), but some families find it difficult to make use of these techniques. Medication is also used to reduce challenging behaviour, but it is frequently only partially successful and runs the risk of serious side effects (Hier et al., 1999; Brylewski and Duggan, 2004; Kushner and Guze, 2005). In systemic thinking the importance of interactions between family members is emphasised (Minuchin, 1974), and therapist and family seek solutions in a collaborative process (Dallos and Draper, 2003). That the stories of families where a member has a disability are subjugated beneath the dominant societal narratives is motivation to bring forth these narratives. Disability is a cultural context where individuals are denied rights that the many would regard as basic human rights, and a clear understanding of this cultural context is invaluable for ensuring that therapy is appropriate. From the perspective of a health professional it is important to make a distinction between the children with the condition and relatives. However from a systemic perspective the parents are part of the “problem-determined system” and equally part of the problem-solving system (Anderson and Goolishian, 1988).

The author and the MPS have found no reports in the psychological and medical literature looking specifically at the experiences of any parents of children with MPSD. In order to find out whether parents of children with MPSD have similar or different experiences and understanding to parents of other children it is necessary to inquire into their perspective.

Aims

This study explores the experience and understanding of the parents of children who have an MPSD, using Interpretative Phenomenological Analysis (IPA), to make explicit the lived experience of the parents in order to understand better the context of challenging behaviour.

Method

Participants: To be eligible the participants had to be the parents of a child or children with MPSD and challenging behaviour. Prospective candidates were purposively selected by the MPS. They were initially contacted by the MPS. They were then sent a letter about the study and subsequently telephoned to arrange an appointment if appropriate. All interviews took place in the participants’ home.  The study, including consent form, was discussed and the participants were given the opportunity to ask any questions that they might have before giving written consent. The parents chose to be interviewed together. The two parents (Victor and Lorraine) were interviewed together for about two hours about their life with their children with Sanfilippo Syndrome (James and Ashley) and then re-interviewed after they had read the transcripts of the first interview for a further two hours. They are a heterosexual couple, parents of two children with mucopolysaccharide disorders. The rich and detailed data produced by the initial and follow-up interviews with this family provided sufficient data for the purpose of the study.

Data collection

Ethical approval: The Society for Mucopolysaccharide Disorders (MPS) reviewed and approved the research proposal. Participants were recruited with the help and support of the MPS. Birkbeck College Ethics Committee approved the project.

Information for participants and consent: The participants were given written information about the proposed research interviews, for them to read, discuss, and retain. They gave explicit, written consent and they were aware that they retained the right to withdraw from the study at any point. They received a hard copy of the transcripts of the interview, which they reported that they had read and that they were satisfied that it did not contain information that they did not want disclosed.

Interviews: The interviews were semi-structured and consisted of open-ended questions. Examples of the questions include:

I want to know what it is like to be the parent of a child/ren with a mucopolysaccharide disorder. -What has it been like for you as a parent?

Can you tell me about any of your child/ren’s activities which you have found have made it difficult for you to care for them?

The schedule of questions is included as an appendix.

Recording: The interviews were recorded directly onto a computer.

Analysis

The interviews were transcribed and the transcripts were analysed using Interpretative phenomenological analysis (IPA) (Smith and Eatough, in press).

The first analytic stage involved a reading of the initial transcripts in toto and then two further careful readings. Points of interest and significance were noted. An initial attempt to categorize these points was made.

In the second stage the initial observations were collated to identify themes that sought to express the nature of the participants’ thoughts and experiences.

The last stage of the analysis of the first interview developed a sense of the coherence of the themes and their relationships to each other. Themes that appeared related were clustered together under an overarching label. The script was reviewed in the light of the themes to test their coherence. Different structures of the themes were then developed from the previous analysis and the process was repeated to obtain the result most consistent with the data.

The subsequent transcripts were analysed in the context of the initial analysis and the results of the analyses were integrated.

Self-reflexivity

Anticipation: In preparing for the research, I discussed the proposal with colleagues in order to be able to explain my ideas and expectations and to hear reflections on how my thoughts appeared to others.  As a professional working with people with mental health concerns and with intellectual disabilities for many years, I am familiar with their stories, from which experience I have expectations about what I will hear.  I expected to hear stories of struggles and successes with challenging behaviour. I expected to hear stories of the love of a parent for their child, the grieving when a child does not develop as the parent had hoped, and the hurt when society treats the child differently. Stories about the importance of support, respite in particular, and the difficulty accessing that support are also predictable.  It is uncomfortable but expected to hear stories of professionals not listening and not understanding the family’s perspective. I was aware of the difference in my status moving from the familiar position of health professional providing a service to people seeking my help, to that of researcher, seeking the help of the participants.

Listening to their stories: Themes that I identified strongly with included that of the family as a source of identity and support, the commitment to care for the children to the best of their ability, and the resentment of a society that denigrates difference. Struggles with the idea of what is normal were prominent. The ease and clarity with which they talked about difficult issues was notable.

Looking back: In the process of transcription and analysis I have been aware of how powerfully emotive the narrative is. Before I started I was aware of the respect that I have for families and carers, but the detailed analysis of one family’s story has embedded and reinforced that respect. I have developed a deeper understanding of the level of sophistication with which they understand their experience.

I was delighted to hear that the participants had experienced the research as positive, that they had valued reading the transcripts, and that the process of reading the transcripts had increased their sense of competence and expertise. Courtesy requires that they give me positive feedback for the interest that I have shown in their story, but I felt that their feedback was genuine.

Results

At the first interview the participants talked for over two hours in two roughly equal stretches. After introducing the first question from the semi-structured interview my contribution in the ensuing hour amounted to six brief phrases reflecting a natural flow to the conversation and the second stretch followed a similar pattern. Thus only the first two questions from the schedule were used and yet the interview broadly covered the rest of the questions. The second interview took place after the participants had had an opportunity to read the transcripts of the first interview. It was of similar length divided into four stretches.

Analysis of the final transcripts did not introduce any new themes, suggesting that saturation of the data had been reached.

The family paint a rich picture of their life in all its complexity. They show a sophisticated understanding of the psychological and social context of disability. Many of the themes are inter-related and their relationships will inevitably look different from different perspectives. This is my interpretation of the structure of the themes.

SUPERORDINATE THEMES

1.         Difference

2.         Relationship to help

3.         Emotional responses/Grieving

4.         Adaptation

1.         DIFFERENCE

The family describe feeling different and experiencing being treated differently. They are aware that their life is different from the life they expected, but they challenge the inference that it is worse.

Societal prejudices about diversity are embedded in the language that we all use and contribute to the discrimination that the family experience.

“other people who have so-called normal children”

This encapsulates the recognition that their child is labelled as not “normal” and by implication abnormal. As parents of the child they are therefore also different from parents of “normal” children. By adding “so-called” they qualify the label and challenge the validity of comparing their child and themselves to an unspecified notion of normality.   They recognise that as a family there are many more ways that they are similar to other families than ways in which they are different.

“We’re no different than any other family, but we will always be seen as being different.”

Thus the parents recognise that the label of normality oppresses their children and their family by denying their commonality with the rest of humanity. The parents challenge the imposition of the label of difference, recognising that the label of difference brings stigma and discrimination.

The parents also reject the term “cope”, when it implies that they have a particular burden.

“We don’t cope. We just get on with life as it is.”

The experience of having a child with SS has increased their awareness and understanding and allowed them to reflect on the discriminatory ways of thinking that they were brought up with.

“I think I’m just as guilty as society… I treat people differently, and I should know better, because I’ve been treated differently and I don’t like it”

Even among their own extended families the parents are aware of how their different requirements are not understood, adding to their sense of isolation.

The family describe opposing implications of difference. On the one hand they feel marginalised and rejected because of difference, but on the other hand they resent the way that society tries to treat all people with disabilities as being the same, in denial of their individuality. They challenge the idea that having a condition means that one should be excluded from all areas of the community.

“James is just a normal healthy eighteen-year-old. He’s got Sanfilippo but that doesn’t mean he’s crippled or anything. He’s not any different than any other eighteen-year-old. He likes television, music…”

This statement challenges the implicit assumption that because James has SS he is unable to engage in the same activities and he will not enjoy similar pleasures to another person of his age.

The family represent society’s struggle with diversity. They are aware of how society treats them differently and at the same time they realise that they are using the same discriminatory thought processes among themselves. They often relate descriptions of themselves to an undefined ‘normal’. They share society’s ideas of an idealised norm. They are also aware of the faults in this concept in that they can cognitively accept that everyone is an individual and behaves differently.

The family feel acutely that the difference in their experiences creates a barrier not only in the wider community but even within their own family of origin. They described a holiday with extended family.

“They was up, their children were up, their children were breakfasted, they could get themselves dressed, and they was ready at nine o’clock, and we were still either feeding James or feeding Ashley or helping getting them dressed and getting everything that involves. And it makes me even feel different within my own family.”

The theme of difference highlights the impact that society’s response to having such a condition has on the affected individual’s experience. In keeping with the systemic perspective, the impact is also felt acutely by the affected individual’s family.

2.         RELATIONSHIP TO HELP

Parents expect to be able to meet the needs of their child with little input from health professionals. Many parents will have brief contacts with doctors and other professionals, when they will rely unquestioningly on the professional’s expertise. A child whose needs are such that they cannot easily be met without extra support, and with additional health concerns that result in frequent contact with health services, places the parents in an unexpected situation where they have much greater contact with professionals over prolonged periods of time, they are obliged to request more from services, and they learn the limits of professional expertise.

The family described their original traditional approach to seeking help, which used to be a process of giving themselves up to the expertise of another in order to find a solution to a problem. Over time this attitude of subservience has changed, allowing them to see the limitations of the sick role.

Alongside the limited ability of professionals to solve their problems, they have realised that they do not have to deny their strengths when asking for help. They have also grown to recognise and value their own expertise and their importance in the therapeutic relationship.

The family describe how useful the right support is.

“We’ve got a good care team coming in and that is very beneficial, for us and for James, you don’t always appreciate it because you don’t always want people in your home.”

At the same time they are pointing out that even with good support, carers are an intrusion into family life.

They have seen the impact on families who lack enough support.

“And families who don’t get it, they crack…”

Over time, they have learnt to value good quality care and to challenge ignorance and inappropriate support.

“…so if you get a good support package it is very, very important.”

At the same time as valuing the support, they challenge the assumption that because they accept help they are therefore helpless.

“The carers coming in are there to not so much do the care. They’re there to assist with the care. There is nothing that if the carers didn’t come in. If the carers didn’t turn up this evening, that wouldn’t make any difference to his quality of life for James. It might take longer to give him his tea…”

They argue persuasively and work to ensure that their primacy in the caring arrangements is respected.

The family recalled first hearing the diagnosis from a paediatrician. Receiving a diagnosis of a serious medical problem is traumatic and the way the doctor handled the meeting was perceived negatively.

“We found out from Justine two hundred miles away on the phone that James had a short life expectancy and, you know, I think the doctor should have been telling us this.”

(Justine works for the MPS society.) Although it is not unlikely that the doctor did not discuss life expectancy, a very significant factor, it is also important to remember that the shock of unexpected news can reduce a person’s ability to process new information.

In keeping with our understanding of continuity of care, they attached great importance to being able to get hold of a specific person at any time. One doctor, Dr Goldberg, has worked very closely with the families for many years and was seen as an invaluable resource.

“If we had any doubt, we had any questions, we could phone David Goldberg or we could contact the MPS society”

The participants praised the MPS society for its role in educating them about MPS and supporting them as a family and in their contact with professionals.

“Most of what I found out sort of in the early years mostly came from the MPS society. They sent me they moved at your pace.”

One might predict this positive attitude in view of the process of purposive sampling. The MPS received a copy of the research proposal and they were aware of the intended public nature of the work. They can be assumed to have selected a family, who they were confident would act as spokespeople for the society, in keeping with the aims of supporting and advocating for their members. They would automatically screen out families where they thought that the research would be potentially harmful to the family or the society.

The high expectations that they had of doctors prior to becoming parents of a child with a disability have been eroded over time to a more realistic understanding of the role of the doctor. They report feeling more confident in demanding to be involved in decision making and they are acting accordingly.

“We’re now going to a new hospital with James, we’re seeing new consultants, and we’re actually being more forceful with them consultants by saying, you know, ‘this is what we hope to achieve, we don’t want that particular person involved.’ And I’ve now got the confidence to say that.”

Systemic therapists can help families to an earlier appreciation of their own expertise. Therapists can help to connect families to their network of support and understand the different roles of the people involved. This values the family as stakeholders in the therapeutic relationship, and positions them at the hub of the network of support.

3.         EMOTIONAL RESPONSES/GRIEVING

The family describe the range of emotional responses that they experienced when learning that their child had SS, and how their emotions have changed over time. Kubler-Ross (1973) described stages of grief including denial, anger, and acceptance and these features are evident in the narrative. The process of emotional adjustment runs through the history of their life from discovering that one of their children had SS.

The analogy with bereavement connects with their experience.

"I remember when they told us about James it was like they'd told us that he'd died."

The family are grieving for the loss of their expectations of a child whose life trajectory would be similar to their own.

“It’s very similar to a bereavement, you know, you have a child that everyone expects has got, is gonna be a happy, healthy child who’s gonna grow up and mature and eventually get married and have children of their own.”

It is important to recognise that, although experiencing symptoms that can be thought of as bereavement for the loss of expectations, the parents value and cherish their children (See Adaptation below).

The participants’ initial response is denial, a common response to a major loss.

“He was about nine ten months old. I thought that they’d obviously got it wrong. The diagnosis is wrong.”

One of the next responses that the parents describe is how, after discovering that their child was unlikely to live to adulthood, they tried to cram a lifetime of experience into as short a time as possible. This does not fit in with classic description of bereavement reflecting that the loss is of expectations and not life. Over time they have learnt not to try to make up for the short life expectancy but to value each day in itself.

The parents note how their emotional reaction has changed over time, finally reaching a point of acceptance:

“This is not the life I chose when I was sort of sixteen, seventeen, eighteen. This wasn’t you know, if somebody said “You can have this path or you can have this path.” It’s not the life I chose, but I’m not unhappy with it, I’m not… I always say I wouldn’t swap my boys for the world, you know, for normal boys. I mean, of course I would, if I hadn’t of had James and Ashley, I wouldn’t have known about them. But they’ve given a lot more than they’ve taken, you know…”

They would not have chosen for their children to have SS but they cherish them for who they are.

4.         ADAPTATION

Adaptation is a term the parents understood as being very significant in understanding their lives. Adaptation and grieving are related. The one is the adjusting to a new way of life, and the other is the psychological process of accommodating to the loss of the old and expected way.

Adapting to the changes in family life is a recurring theme. They describe both more successful and less successful adaptations in the context of how the characteristics, both of the family and of the wider system, affect their functioning as a family.

In an argument that Emerson would recognise they reject the attribution of challenging behaviour to the individual, noting that it is a matter of perspective.

“I think with challenging behaviour is a misconcept, that James has got challenging behaviour, ‘cos what is challenging to me isn’t challenging to Lorraine. It’s the way we adapt to cope with the way James is.”

The adaptation is not just in behaviour but also in thinking and attitudes. They reflect on their attitudes before the children:

“I would talk to the person pushing the wheelchair, “How is he today?””

They have developed an awareness of these attitudes and behaviours that they now resent.

The family have been purposively selected as spokespeople for the MPS. It seems reasonable to assume that this is at least partly because of the skills they have demonstrated in adapting and being able to convey their sense of mastery in a confident but unassuming manner.

“I think we’ve just gone along the road of fate. It’s, like everybody else you learn to cope with what you’ve got at the time. You know, if you’re in a car accident and you know, you lose your legs, you learn to live without your legs. You know… …we had James and then we had Ashley. We had a lot of trials and tribulations along the way.”

The participants reflected on the nature of their family. They value the cohesiveness of their immediate family.

“We’ve become very isolated. We depend sort of on the four people in this house, and that’s who we know we can trust and depend on.”

The mutual respect including the respect of the children was evident.

“I feel privileged for having them. It’s made me feel special”

In particular the ability of the children to love unquestioningly was highlighted.

“and it’s unconditional love and he just gives that. So when people go on about how do you cope. I cope because for one second in a day he wipes everything out. He wipes all the pain and the anguish.”

They made no attempt to deny that they had had struggles as parents. A sense of humour lightened the narrative:

“We started off with removing all the pot ornaments because they got broke and then we had to remove all the brass ornaments ‘cos they hurt when they hit you.”

The fortitude and determination of the family to use their strengths to find solutions where possible and to accept what cannot be changed makes a powerful narrative.

Feedback on the transcripts

Veracity:

The participants confirmed that the account matched with their perspectives:

“it was pretty self-explanatory what we’d said. It was the way we felt. We don’t try and hide anything, we say it as we see it, and if we get it wrong then we learn by the mistakes obviously, hopefully, that way. It’s just as we see life. And it was written down how we said it so it was as we saw it.”

The participants reported that the process of talking about their experiences was unusual and it challenged their assumption that they were getting on with life just like anyone else. The interview appears to have been a different interaction from the conversations that they are more familiar with. There was an obvious parallel from my perspective, in that it was unusual for me to be talking with parents as a professional but outside a professional relationship.

“I found it unusual talking about what we’d done. Trying to put into words, trying to think what people wanted, well not what you wanted us to say but what to say, because it was, we were so encapsulated in his own world, we couldn’t see anything different, we just thought that’s what everybody expected us to do. We didn’t think we were doing anything unusual.”

They are evidently very familiar with telling parts of their story to different people for particular reasons.

The interview in itself appears to have been satisfying. They were talking about themselves and the process appears to have had an evaluative role in that, rather than following their usual pattern of focussing on achieving the daily tasks of family life, they were contemplating the meaning of their actions.

“And I felt quite good after you’d left.”

“it gives me a sense of accomplishment that we’d accomplished something, to look back and reflect on what you’d done when you did it without thinking, to go back and think “Did I do that?””

Reading the transcript:

“I think that after reading that we truly believe that we’re the experts in James”

“I have got a lot more confidence after reading back what we’ve done”

“It’s nice to see it wrote down, it’s giving yourself a pat on the back, which is a very nice feeling”

He gave an example of managing an episode of hypoglycaemia with confidence.

Feedback on the analysis

The parents seemed positive about the feedback, frequently agreeing strongly with statements that I made; they demurred modestly when I suggested that they were experts.

The parents elaborated on previous themes and added stories. They seemed more reflective, for example, with a discussion about how they saw the stigma of disability changing.

"I think it is moving in the right direction, but I think it's a long, long way off before disabled people are accepted.

Discussion

This research provides a unique insight into the experiences of two parents of children with a specific condition, SS, and how the parents thought about and made sense of their experience. Overarching themes of difference, relationship to help, adaptation and grieving emerged.

The participants were aware that the aim of the research was to result in a public document that can inform professionals and families. It seems likely that this was in their minds when they choose which stories to tell. They were aware that the interviewer is a health professional and although their relationship with health professionals was only one of a number of areas for discussion, this is likely to have influenced their thinking. They may have welcomed the opportunity to challenge prevailing prejudices and practices by expressing traditionally subjugated narratives: They emphasise the importance of listening to carers, challenging the tendency of bureaucracy to produce a standard response to a number of different situations, which may be better or worse served by that response. Descriptions of the personality and contribution of the children challenge the process of labelling as different and marginalising people with disabilities. That the children are cherished challenges the common assumption that people with disabilities are only a burden. Emphasis on the strength of the family challenges the way that families of people with disabilities are frequently portrayed as helpless and needing support, while ignoring their strengths.

Bryony Beresford’s (Beresford, 1995) interviews with parents of children with unspecified disabilities observed similar themes; the primacy of the parent-child relationship, the pleasure the child gave, the stresses of caring, active adaptation, relationship to help, the impact of other stresses. This study confirms that these issues are also significant for these parents of children with SS. Descriptions of emotional responses were less apparent than in this study perhaps reflecting a different socio-political agenda. The work of Bicknell (1983) suggests that the bereavement response is likely to be evident even if not prominent in at least some families, but Bicknell was referring to a population that would have been selected on account of their receiving psychiatric support. The account in this report of family identity and strengths contrasts with the theme of valuing services which respect family life in Beresford’s work. Perhaps this relates to the participants’ experience, which enables them to demand appropriate services with vigour.

The theme of relationship to help relates well to the themes that Brewer and colleagues (Brewer et al, 2007) considered with carers of young people with Juvenile Huntington’s Disease. The stress on the quality of the help and not only the quantity is evident. The isolation that this family reports reflects the loss of informal support outside the immediate family. This is attributed to the impact of difference.

The parents’ accounts of their earlier experiences parallel the findings of Brewer and colleagues well, but when the relationship is viewed over time the accounts reflect how the family have adapted so that they are now more active and assertive partners in the relationship with help, recognising that they “train” carers, and choose who they will collaborate with.

The lack of focus on the primary features of the condition is in marked contrast to that of Smith and colleagues (Smith et al, 2006). One might have expected to find greater parallels given that both conditions are associated with a gradual onset, physical symptoms, speech and communication difficulties, behavioural problems and a relentless progression. However the focus of this research was on the experience of the parents and how they understood their experience, in contrast to the focus on the primary features of the disorder evident in Smith et al’s results. Thus, for example, the behavioural difficulties in this family are taken as understood, and the parents explore the way that they have adapted to challenging behaviour, their sophisticated sociological understanding of the process of labelling, and how they have mediated to protect their sons’ rights.

Implications for systemic practice

There are several points for practitioners to note:

The social context of disability and stigma is highlighted. Carers may have an acute awareness of the social-political context of disability and processes of marginalisation. Language plays a role in promoting and perpetuating the disadvantage experienced by people with disabilities and their families. Everyday words like normal can cause confusion and distress.

Professionals can help families to recognise their own skills and strengths. Reflecting on their own story can empower carers and increase their confidence.

Support is very important and it needs to be sensitive and appropriate not just to the individual’s needs but also to the family. Collaborative and integrated multidisciplinary, multi-agency working can maximise the value of support.

Being aware that complex emotional responses in disability may be present and may be significant can help families feel understood. The distress may well reflect the love felt for the child.

Challenging behaviour is best understood as a systemic context and parents may have a more sophisticated understanding of this than some professionals. Thinking of CB as a communication is often helpful.

Family strengths, resilience and adaptability can be very impressive and are important resources to be considered.

Support organisations can contribute significantly to a family’s ability to adapt and their quality of life.

In addition to the potential harms of research, the potential of benefits to participants is noteworthy.

Conclusions

This report contributes to the parents of children with MPSD feeling that their stories are heard and valued. Better professional understanding of the participants’ experiences will work to reduce the sense of isolation that is felt by families of children with MPSD.

Acknowledgements

I thank Dr Virginia Eatough for supervising the research and the many people who have helped.

First published on this site in 2020.