Edinburgh Napier University

  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 (n¼43) and families (n¼16) 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.