Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS)

Abstract

BackgroundMany 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. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought.MethodsThis qualitative hermeneutic phenomenological study explored and interpreted Irish parents’ experiences of living with and caring for children, adolescents and young adults with MPS and the impact of these diseases on their day to day life. A purposively selected sample of parents’ attending the Irish National Centre for Inherited Metabolic Disorders was invited to participate in serial in-depth interviews.ResultsA total of eight parents’ (n = 8) of children with a range of MPS disorders aged from 6 months to 22 years (MPS I Hurler syndrome, Scheie syndrome), MPS II (Hunter syndrome), MPS III (Sanfilipo syndrome) and MPS VI (Maroteaux-Lamy syndrome) were interviewed at three time points over a 17 month period. The main themes identified during data analysis were described as living with MPS, living with a genetic rare disease, the stigma of a rare condition, MPS as encompassing multiple diseases, Unknown future, hospital vs. home, experience of waiting, a tough road ahead, and things in their day-to-day life with MPS. They spoke of 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.ConclusionThis study’s findings reflect the wider literature on the impact of rare diseases, which have also indicated how caring for someone with MPS, a condition that is chronic, progressive and degenerative can impact on all dimensions of the family’s life. Analysis of the findings using a hemenutic pheomenology perspecitve suggest that parents of children with MPS experience multiple cyclical movements across all five human lived existential experience, and they gradually develop ways to incorporate MPS in their day to day life. It was also evident that all the carers in this study experienced a range of uncertainties, with parents using terms such as ‘no man’s land’ and ‘future is unknown’ to describe their world.

Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study

“…These positive outcomes are comparable to the effect of EMDR in adults with PTSD related to personal traumatic events (35). The size and persistence of the effects at follow up in our study are remarkable, especially in the context of the progressive and grim course of the disease in patients with the common phenotype of MPS III, generally causing ongoing daily stress for the whole family (4,16). Most people who are treated with EMDR are trying to cope with traumatic symptoms resulting from past events, delineated in time, in which there is a post trauma safety situation whereas parents of progressively ill children will experience multiple traumas during the course of the disease, and may even more suffer from threats of expected future medical crises and an early death.…”

“…Although these disorders are individually rare, their combined prevalence is substantial (3). Earlier studies showed that IEMs have a highly negative impact on the psychosocial functioning of parents (4)(5)(6)(7), and that parents of children with IEMs report a lower health related quality of life compared to parents of other chronically ill children including paediatric cancer (8). This may be explained by the fact that parents of children with IEMs often have to deal with a continuous process of loss due to the progressive nature of the disease, facing an uncertain future with a realistic fear to lose their child often after a long diagnostic odyssey (15,16).…”

“…It seems likely that most parents of children with rare IEMs are not routinely assessed for the presence of PTSD in clinical practice as health care providers may not realize that caring for a progressively ill child may lead to PTSD. In addition, EMDR is generally provided in weekly sessions which may preclude participation of these parents as they are often overburdened by the complexities of parenting their child (4,23). In order to make treatment more accessible for these overburdened parents, we offered four sessions of EMDR (1.5 hrs each) scheduled on two subsequent days, to two parents of MPS III patients (from different families).…”

Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America

“…Another decisive aspect on evaluating the HRQoL of the MPS patients is to assure and evaluate the quality of life of their parents and/or caregiver. Within this context, Somanadhan and Larkin [44] have pointed out important issues faced by parents and/or caregivers, as the experiencing a of tardive diagnosis, receiving the diagnosis of a progressive and limiting disease, the stigma of a rare condition, intensive care, physical distress and coping with a uncertain future. Thus, evaluation of the psychological health of the family and/or caregivers is also critical for ensure the quality of life o the patient.…”

Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases

“…Such diseases are debilitating and without a proper diagnosis may cause gross morbidity and mortality, thereby posing a challenge to the healthcare system of the country [8]. A rare disease has an adverse impact on the everyday lives of the whole family and their care givers [9][10][11][12]. The cost of treatment/management is high and causes considerable financial burden to the individuals and their families [8,11,12], as there is a lack of Government policies regarding this aspect, hindering their treatment.…”