Challenging symptom profiles of life-limiting conditions in children: a survey of care professionals and families

Abstract

This paper reports on data from the initial phase of a UK-wide study exploring life-limiting conditions (LLCs) in children where, because of their rarity, little is understood regarding the significant symptom challenges of families and care professionals who support them. In this initial phase, care professionals (n=43) and families (n=16) completed a survey to identify which rare LLCs present symptom challenges and which individual symptoms prove difficult to manage. Findings led to the prioritization of mucopolysaccharidoses, Batten Disease and leukodystrophy. Care professionals' rationales for selecting these conditions included the presence of symptoms that are very difficult to manage, a requirement for additional clinical evidence to support symptom management, and the progressive nature of these diseases where symptoms frequently change and are difficult to predict. Families identified symptoms such as behavioural difficulties, visual impairments and communication impairments as those being most difficult to manage and having most impact on quality of life for children and families.

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

“…This study’s findings reflect the wider literature looking at the impact of other types of life-limiting illness, which have also indicated that caring for someone with MPS has a wide impact across all dimensions of the family’s life [13, 14, 39–41]. These findings are again consistent with the literature on parents of children with other life-limiting conditions [13, 14, 39–41] and life-threatening conditions [42, 43].…”

“…They also reflected on issues of stigmatization and isolation in their experience of living with a child with a rare disorder. Even though the impact of child’s rare life-limiting illness on parents has been explored in a number of studies [13, 14, 18, 39–41] this study is the first of its nature that has explored the experience of Irish parents living with and caring for a child, adolescent and young adult across the full spectrum of MPS diagnoses.…”

“…Recent studies recommend further research into the experience of caring for children with rare life-limiting conditions, investigating the needs of families for the long-term care of their child through adolescence to adulthood, and the specific services required [13, 14, 21]. The UK Strategy for Rare Diseases [22] and the National Rare Disease Plan for Ireland [23] and many more rare diseases national strategies [24, 25] across European member states highlight the importance of engaging and involving patients and their families in research and incorporating the patient and carers voices into the policies and services that affect them.…”

Mapping the Literature

“…40,43,50 Another common subspecialty retrieved was that of pediatric neurodegenerative diseases. 41,42,52 Other studies retrieved examining the use of palliative care in child neurology included a study of children who had died of brain tumors, 49 and a compilation of short articles regarding palliative care for pediatric neurology patients, including review of pain in children with neuro-irritability and difficult-to-treat epilepsy. 51 The pediatric palliative care textbook reviewed included 1 chapter devoted exclusively to palliative care in neurologic illnesses, and a second chapter, to neuromuscular diseases.…”

Childhood leukodystrophies: a clinical perspective

“…Childhood leukodystrophies: a clinical perspective options [20,33,34]. These include medical, psychiatric, psychological, educational and other options.…”