Background: Parents of children with rare diseases face pervasive challenges in meeting
medical and social care needs. Existing research on the parents' experience of caring for a …

Descriptive title Parents of children with rare diseases face pervasive challenges in meeting
medical and social care needs. Existing research on the parents' experience of caring for a …

Highlights•Focus groups used to investigate needs of parents of a child with a rare
disease.•Parents felt socially isolated caring for their child with a rare disease.•Often parents …

Objectives Research on rare diseases from the patient perspective is limited; however,
research into the impact on parental caregivers of affected individuals is even more limited …

A disorder is considered a rare disease if it affects 1 in 2000, hence, while independently
unique, collectively, these conditions are quite common. Many rare diseases are diagnosed …

I conducted a review of the literature at the outset of the study to identify what was known to
date regarding the experience of parents who care for a child, or children, with a diagnosed …

There is increasing awareness of rare disease as a distinct entity. Advances in diagnostic
testing have identified over 7000 individual rare diseases affecting millions of patients …

Background Parents caring for a child affected by a rare disease have unmet needs, the
origins of which are complex and varied. Our aim was to determine the supportive care …

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

Background Children and families affected by rare diseases have received scant
consideration from the medical, scientific, and political communities, with parents' needs …