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 …

Background Children and families living with rare disease often experience significant
health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be …

Background Children with progressive metabolic, neurological, or chromosomal conditions
and their families anticipate an unknown lifespan, endure unstable and often painful …

Background Ågrenska, a Swedish national centre for rare diagnoses and health conditions,
has arranged courses for families of children with rare diagnoses for over thirty years, and …

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 …

Background Children with progressive, non-curable genetic, metabolic, or neurological
conditions require specialised care to enhance their quality of life. Prevention and relief of …

As rare diseases often have an onset of symptoms in childhood, the burden of the disease
and associated challenges commonly fall to the individual's family members. Managing this …

Medically unexplained symptoms in young people can present a challenge for primary care
physicians to manage. Despite the prevalence of this clinical problem, physicians feel ill …

Background Caring for a child with a chronic disease may be demanding and stressful.
When a child has a rare condition, the impact of care on parents is amplified due to the rarity …

Background Challenges faced by children diagnosed with a rare disease or complex
condition and their family members are often characterized by disease-specific complexities …