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The Symptom Profile and Experience of Children with Rare Life-Limiting Conditions

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The Symptom Profile and Experience of Children with Rare Life-Limiting Conditions The symptom profile and experience of children with rare life-limiting conditions: Perspectives of their families and key health professionals Document Title The symptom profile and experience of children with rare life-limiting conditions: Perspectives of their families and key health professionals Authors Cari Malcolm, Sally Adams, Gillian Anderson, Faith Gibson, Richard Hain, Anthea Morley, Liz Forbat. Publisher Cancer Care Research Centre, University of Stirling Publication Date 2011 Target Audience Paediatric palliative care staff, paediatric clinicians, policy-makers, service developers, families supporting children with life-limiting conditions. Funded By Children’s Hospice Association Scotland Key Words Advance care planning, Batten disease, expertise, extended family, family, Morquio disease, progressive life-limiting, relationships, Sanfilippo disease, siblings, symptoms. Contact Details www.cancercare.stir.ac.uk Tel: 01786 849260 Email: [email protected] Copyright This publication is copyright CCRC and may be reproduced free of charge in any format or medium. Any material used must be fully acknowledged, and the title of the publication, authors and date of publication specified. The symptom profile and experience of children with rare life- limiting conditions: Perspectives of their families and key health professionals Executive Summary Background Many non-malignant life-limiting conditions are individually extremely rare and little is known, even by professionals in the field, about the actual day-to-day symptomatology or the impact of these symptoms on the child and family. With little recorded in the literature regarding the symptoms that children with rare life-limiting conditions experience, and the associated impact of managing these symptoms on the wider family, an opportunity exists to widen the knowledge base in this area. Methods The study aimed to use the expert views of families and practitioners to explore and gain an understanding of the symptom experience of children with the rare life-limiting conditions of Mucopolysaccharide disease (MPS) and Batten disease and the wider family impacts of caring for and supporting these children. The study consisted of three phases: (i) a national survey to identify which rare life-limiting conditions present symptom challenges and warrant focus during the remainder of the study, (ii) a prospective daily symptom diary completed by families over a two-month period, (iii) interviews with parents, siblings and practitioners. The mixed method approach of symptom diaries and interviews were intended to complement each other. The information collected in the diaries informed the interview schedule, and the interviews provided an opportunity to clarify and explore issues documented in the symptom diary and explore the wider family impact. Quantitative diary data were analysed using descriptive statistics and the qualitative interview data were generated and analysed using a grounded theory approach. Sample Fifty-nine people completed the survey, including 43 practitioners and 16 family members. Nurses accounted for the largest proportion of care practitioners, with hospice and community nurses accounting for 40% and 23% of respondents, respectively. Twenty-six children, from 23 families, with Mucopolysaccharide disease or Batten disease took part in the study. Seventeen children had a Mucopolysaccharidosis, including 15 children with Sanfilippo disease, one child with Hurler disease and one child with Morquio disease. Nine children had Batten disease. Diaries were completed by twenty parents relating to 22 children (13 with Sanfilippo disease, 1 with Morquio disease and eight with Batten disease). Parents of the remaining four children chose to participate in the interview phase only. Interviews were also conducted with eight siblings and 19 practitioners. Practitioners came from a variety of disciplines, including acute and community health, education, and the voluntary sector. Page| i Key findings • The study focused on the symptom profile and experience of supporting a child with MPS and Batten disease. • A high prevalence of behavioural symptoms such as hyperactivity, repetitive behaviours and agitation were documented. • Symptoms that parents reported as being most difficult were often those that signify a loss of a skill or ability, which, in turn, signal the progression of the life-limiting condition. Consequently, though some symptoms were particularly challenging, understanding their meaning (the threat of the child dying) was critical to understanding the experience of supporting the child. • Parents became experts in managing the condition and its associated symptoms. This expertise often developed through necessity rather than choice. • Siblings often manage a delicate balance between protecting their unwell sibling, their parents and themselves. • The wider family was also clearly impacted by the child’s condition. • Practitioners often provided support which was above and beyond their usual duties to support families. Many had very narrow expertise, usually focused on controlling one or two symptoms, rather than experience of the condition in its entirety. Findings: National survey The national survey identified a small number of conditions which would then form the basis of the subsequent phases of the research. MPS disease and Batten disease were prioritised. These conditions were prioritised, because both parents and clinicians indicated that they present considerable symptom challenges. Findings: Symptom profile A total of 1150 diary entries were returned, representing an overall return rate of 93%. Of the 22 children for whom symptom diaries were kept, complete diary sets containing data for 56 days were received for 11 (50%) children. Of the remaining 11, the primary stated reason for missing diary data was because the diary was not completed when the child was staying away from home in planned respite/hospice care (54%). Prospective daily symptom diaries, combined with interview extracts pertaining to symptom management, document the symptom profile for Sanfilippo disease, Morquio disease and Batten disease. Sanfilippo disease: The cohort of children with Sanfilippo disease included children at different stages of the condition. A wide range of symptoms were recorded. In particular, a high prevalence of behavioural symptoms such as hyperactivity, repetitive behaviours and agitation were documented. Such symptoms were also rated high in terms of severity, alongside disturbed sleep. The most challenging symptoms were behavioural, those which prove difficult to control, and those which signify progression of the condition. Practitioners found that difficulties in communicating with the child impaired their ability to assess symptoms. The strategies employed by parents to manage symptoms were moderately effective, with no symptom or strategy standing out as more or less ii | Page difficult to manage. Overall, parents reflected on the relentless nature of behavioural symptoms, and the resulting physical and mental exhaustion in those who care for, and live with, these children. Morquio disease: The range of symptoms experienced included pain, cold extremities (hands and feet), joint stiffness, muscle spasms, vomiting, diarrhoea, breathing difficulties and cough/cold infections. Each of these symptoms was rated as low frequency with the exception of breathing difficulties. Each symptom was rated as low severity, with the most challenging symptom being breathing difficulties. Management of breathing difficulties was regarded as working only moderately well. Batten disease: The cohort of children with Batten disease included children at different stages of the condition (with some being very advanced and others having only received a diagnosis within the past year). Symptoms of joint stiffness, agitation, secretions, cold extremities (hands and feet) and disturbed sleep were particularly high in prevalence. Of these, joint stiffness, agitation, secretions and disturbed sleep received high severity ratings. Parents perceive their interventions to manage disturbed sleep as ineffective, and joint stiffness as only moderately effective. Overall, symptoms which were the greatest challenge to manage in Batten disease were those which signify a loss of a skill or ability and in turn signal the progression of the life-limiting condition, and those which have the potential to lead to health-related complications and other life-threatening illnesses. Practitioners found that difficulties in communicating with the child impaired their ability to assess symptoms and also found the symptom of seizures in this population of children as difficult to manage. Findings: Family perspectives: the key role of expertise and experiential knowledge Parents become experts in these rare life-limiting conditions, and this expertise becomes a central component of the central part of their experiences. Parents begin to suspect that something is not quite right with their child from an early age, but rarity of these conditions precludes securing a rapid differential diagnosis. Between first noticing symptoms to the point of diagnosis parents often struggled with how friends, family and members of the public responded to them and, in particular, how their identity as a parent was challenged. These negative messages, including feeling like a bad parent, were often internalised. However, following diagnosis the narrative arc changed. Many parents began to feel more reassured
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