Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families

Aim: The aim was to describe the nature, frequency, severity and management challenges of symptoms in children with two rare life‐limiting conditions Mucopolysaccharide (MPS) and Batten disease]. Methods: This was an embedded mixed‐method study set in the UK between 2009 and 2011. Twenty‐six children from 23 families took part. Seventeen children had an MPS condition MPS III (Sanfilippo) n = 15; MPS I (Hurler) n = 1; MPS IVA (Morquio); n = 1]. Nine children had Batten disease. Prospective data relating to symptoms were collected over 8 weeks using a symptom diary, and qualitative retrospective interviews with families were conducted. Main outcome measures included frequency, severity rating and identification of most challenging symptoms to manage. Results: The most common and severe symptoms in MPS III were agitation, repetitive behaviours, hyperactivity and disturbed sleep, and in Batten disease were agitation, joint stiffness, secretions, and disturbed sleep. The data highlighted the high prevalence of behavioural symptoms. Distress caused to families by symptoms was not related simply to their occurrence, but to difficulty in management, likelihood of control and extent to which they signalled disease progression and decline. Conclusion: In challenging contrast to the dominant biomedical framing of these rare conditions it was behavioural symptoms, rather than the physical ones, that families documented as most frequent, severe and challenging to manage. The diary developed for this study has potential use in aiding parents and clinicians to document and communicate concerns about symptoms.