This paper draws from recent doctoral research completed by Somanadhan (2016), which provided a deeper understanding of the lived experience of parents of children, adolescents and young adults with Mucopolysaccharidosis (MPS) in the Republic of Ireland. This research project was in collaboration with the Irish National Centre for Inherited Metabolic Disorders (NCIMD) situated at the Temple Street Children’s University Hospital and University College Dublin.
General aspects of MPS and rare diseases
MPS is one of the many rare inherited metabolic which fall under category 3 of life-limiting conditions (Parini et. al. 2016; Somanadhan & Larkin, 2016). It is caused by the body’s inability to produce specific lysosomal enzymes (Giugliani, 2012; Parini et al. 2016). Children born with this genetic condition show no change at birth, but as it is a progressive disease, its effects start to show in subsequent years. Each MPS disorder is caused by the body’s inability to produce specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAG) (Giugliani, 2012; Muenzer, 2011, 2014). This specific enzyme deficiency results in an accumulation of large amounts of GAG, or complex sugar molecules in harmful amounts in the body’s cells and tissues (Giugliani, 2012; Muenzer, 2011). These results in progressive cellular damage, which in turn leads to an array of manifestations that worsen with age, and can, affect multiple organ systems, leading to cognitive impairment and eventually resulting in severe morbidity and premature death (Giugliani, 2012; Kircher et al., 2007; Muenzer, 2014). Currently, there are seven different types of MPS (I-IV, VI, VII and IX), some of which are classified into a variety of subtypes due to their clinical and biochemical features. Except for MPS II, MPS are a genetic disorder inherited in an autosomal recessive pattern affecting both males and females (Giugliani, 2012; Muenzer, 2014).
MPS is classified as a “rare” or “orphan disease”, and all forms of MPS are included in the rare disease database (NORD, 2014). There is a disparity in the international definition of rare disease, with some definitions depending solely on the number of people living with certain diseases. The European Commission on Public Health (2011) defines rare disease as a life-threatening or chronically deliberating disease, mostly inherited. In EU countries, any disease affecting fewer than five people in 10,000 is considered rare. Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. There are more than 6,000 rare diseases, and 1 in 17 people will be affected by a rare disease at some point in their lives in the UK, and sadly 75% of rare diseases affect children (DOH, 2014; Rare Diseases UK, 2015) and 30% of children with a rare disease die before their fifth birthday (DOH, 2014; Rare Disease UK 2015). Most importantly, rare diseases do not only affect those diagnosed but also their families, friends, carers and society (DOH, 2014; EURORDIS, 2014).
There is a need for knowledge and information about the child’s condition and the importance of providing intervention options and appropriate service and care for children with rare diseases as well as their families. The UK Strategy for Rare Diseases (2013) highlighted the importance of engaging and involving patients and their families in research and how their input can improve both the quality and effectiveness of research. The Department of Health in Ireland (2014) also highlighted, in the National Rare Disease Plan for Ireland (2014-2018), the essential need for respecting and incorporating patients’ rights and their voices into the policies and services that affect them. It also noted the importance of establishing a variety of research approaches to rare diseases, including qualitative healthcare research, building partnership with service users which aim to explore their day-to-day challenges of living with a rare condition.
The research aimed to obtain a deeper understanding of parents’ experience of living with and caring for a child, adolescent or young adult with MPS.
A qualitative approach, utilising hermeneutic phenomenology informed by the philosophical constructs of Heidegger (1962), Gadamer (1976, 1996) and Van Manen (1976, 1996), was undertaken. Van Manen’s six research activities were used as a guide for data collection through serial interviewing and phenomenological data analysis. A purposively selected sample of parents (n=8) attending The Irish National Centre for Inherited Metabolic Disorders was invited to participate. In this research study, the researcher engaged with the parents through serial face-to-face interviews over a period of 17 months (August 2013-December 2014), each interview lasting for 1-2 hours.
The five ‘lifeworld existential themes’ proposed by Van Manen (2014, pp. 302) underpinned the analysis and expression of the data in this study. These five fundamental lifeworld themes referred to as existential are termed: lived space (spatiality), lived body (corporeality), lived time (temporality), lived other (relationality), and lived things (materiality) and described the way humans experience the world. According to Van Manen (1997, 2014), these belong to an existential ground, by which all human beings experience the world, and can be differentiated but not separated from the lived world. Nine themes and 22 corresponding subthemes were identified during data analysis.
In this study, parents’ experience of raising a child with MPS was reflected in some ways. The majority of families started their lived experience from the time they received their child’s diagnosis and this experience then impacted their life as a whole. They spoke about grief and loss reactions associated with receiving their diagnosis and living day-to-day with an incurable condition. They talked about their child’s quality of life (QoL), their healthy children’s wellbeing, and for some, the impact on their own physical and psychological wellbeing. They also reflected on issues of stigmatisation and isolation in their experience of living with a child with a rare disorder. Even though the impact of a child’s rare, life-limiting illness on parents has been explored in a number of studies (Hunt et al., 2013; Malcolm et al., 2012; Rallison and Raffin-Bouchal, 2012; Steele and Davies, 2006), this study is the first of its nature that has explored the experience of Irish parents living with and caring for a child, adolescent or young adult across the full spectrum of MPS diagnoses.
This study’s findings reflect the wider literature showing the impact of other types of life-limiting illness, which have also indicated how caring for someone with MPS can have broader effects on all dimensions of the family’s life (Hunt et al., 2013; Malcolm et al., 2012; Rallison and Raffin- Bouchal, 2012; Steele and Davies, 2006). The parents in this study described the dynamics of the relationship as both a relational family status (reflecting their immediate family and close friends in a supportive care capacity) and a non-relational position (indicating those in the healthcare system and services). Parents negotiated both simultaneously as they managed their daily caregiving. The realisation that their child was diagnosed with a disease with no available curative treatment was a shattering experience for the parents, who also faced challenges in managing relationships with their healthy children and others close to the child, including their parents. They indicated that they had a broad range of emotions associated with instability of caregiving expressed through feelings of sadness, loneliness as they struggle to cope with the illness, grief, and fear, uncertainty and changes in their family dynamics. These findings are again consistent with literature on parents of children with other life-limiting conditions (Hunt et al., 2013; Malcolm et al., 2012; Rallison and Raffin-Bouchal, 2012; Steele and Davies, 2006) life-threatening conditions (Muscara et al., 2015; Pam, 2002), and chronic illness (Knafl and Deatrick, 2002; Rehm and Bradley, 2005; Ward et al. 2014). Equally consistent with the literature was the experience of parents who were accustomed to fitting in around their child’s increased demands, resulting from the progressive nature of the illness (Courtney, 2011; Lane and Mason, 2014; Malcolm et al., 2012).
Families described their evolving role of a parent to parent/care provider, with mothers acting as the principal care providers among those interviewed. Only one father was interviewed, although the invitation to participate was open to both parents, either together or separately. Fathers clearly play a significant role in these children’s lives, and take on a caregiving role, protecting, and providing care for their family (Davies et al., 2004; Davies 2013). However, the study findings are consistent with literature which shows that women continue to take on the role of caregiver primarily when a child has a life-limiting illness (Nicholl and Begley, 2012; Ouellet, 2009; Sawatzky and Fowler-Kerry, 2003). Consistent with the literature (Morris, 2001; Radcliffe et al., 2013), the joint interview in the study highlighted the shared nature of families’ experiences of caring for a child with MPS. It was noted in this study that the joint interview appeared to hold greater distress in expressing the experience of participants, compared to one-to-one interviews (Radcliffe et al., 2013; Sakellariou et al. 2013; Taylor and de Vocht 2011). Both participants reported that their experience was equal to a counselling session or as a therapeutic relief from their stress, but expressed a sense of limbo when the research interviews were completed. However, the purpose of the research interview was not intentionally offering any form of therapy (Lowes and Paul, 2006), despite the participant report. This study suggests that researchers should be aware of the qualitative therapeutic interview process and its possible benefits for the participants’ emotional wellbeing throughout the research process that is also mirrored in other literature (Heppner et al., 1999; Lowes and Lyne, 2006; Nelson et al. 2013).
This research study is the first of its kind to act as an initial enquiry, and generating knowledge through researching lived experience of Irish parents of children, adolescents and young adults with MPS. This study provided a voice to the parents of children with MPS, and in doing so will make their lives more understandable to the wider audience. It brings to light the uncertainty, sorrows, and everyday challenges faced by these families, and hopefully will improve the care and support for them through the many months and years of their child’s illness. Therefore, this study can inform practice and policy implementation for service providers with a clear vision of what better care for children, adolescents and young adults with MPS and their families. The knowledge generated here can be the foundation on which specific recommendations for policy, practice, education and research could be made. The findings of this study represented a clear vision of better care for children, adolescents, and young adults with MPS and their families. Overall, this study provided a deeper meaning of the lived experience for parents of children, adolescents and young adults with MPS in the Republic of Ireland. Most importantly following from this research, there are some multicentre studies approved to create further evidence to support parents and their children with various rare diseases. These studies aim to understand children with rare diseases and their families’ unmet needs in the current health care system so that their experience can directly influence health care policy and the provision of service and treatment at the national level. This will, in turn, improve service delivery and partnership care for children with rare diseases and their families.
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