Background Parents caring for a child with a rare disease report unmet needs, the origins of
which are varied and complex. Few studies have systematically attempted to identify the …

Parents caring for children with rare diseases fear the long-term progression of the child's
disease. The current study aims to systematically investigate the quality of life (QoL) in …

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 …

Background Families of children living with a rare disease report significant health and
social burden, however, few studies have systematically examined family needs by using …

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

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 …

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 …

Background A rare disease (RD) diagnosis and therapy can affect the family's quality of life
and mental health. A lack of information and missing care options lead to helplessness and …

Background: Approximately 8% of the Australian population live with any one of about
10,000 known rare diseases. This is similar to the proportion of people living with diabetes …

Background Many people living and working with rare diseases describe consistent
difficulties accessing appropriate information and support. In this study an evaluation of the …