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 …

Background Rare disease patients and carers report significant impacts on mental health
but studies on UK populations have focussed on relatively few, specific conditions …

Introduction Improving care coordination for people with rare conditions may help to reduce
burden on patients and carers and improve the care that patients receive. We recently …

Background We have held a 'trouble-shooting'clinic for Rett syndrome patients from 2003
until the COVID pandemic in 2020. The clinic was multidisciplinary, including clinical …

Background Advanced therapy medicinal products such as Chimeric antigen receptor T-cell
therapy offer ground-breaking opportunities for the treatment of various cancers, inherited …

Background Improving care coordination is particularly important for individuals with rare
conditions (who may experience multiple inputs into their care, across different providers …

Background Poorly coordinated care can have major impacts on patients and families
affected by rare conditions, with negative physical health, psychosocial and financial …

Background Although individually rare, collectively, rare conditions are common and affect a
large number of people and are often chronic, life threatening and affect multiple body …

Rare diseases are often severe, debilitating, life-limiting conditions, many of which occur in
childhood. These complex conditions have a wide range of clinical manifestations that have …

Rare diseases affect an estimated 6-10% of the Australian population, a prevalence similar
to that seen in other regions worldwide. These multi-system conditions are often severely …