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 …

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 Rare disease diagnosis is often delayed by years. A primary factor for this delay
is a lack of knowledge and awareness regarding rare diseases. Probabilistic diagnostic …

Purpose The vast majority of rare diseases (RDs) are complex, disabling, and life-
threatening conditions with a genetic origin. RD patients face significant health challenges …

Rare diseases (RD) affect children, adolescents, and their families infrequently, but with a
significant impact. The diagnostic odyssey undertaken as part of having a child with RD is …

(1) Parents caring for children and adolescents with rare diseases fear the long-term
progression of the child's disease and the loss of their parental role. The aim of this study …

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 …

Introduction Many patients with rare diseases experience a diagnostic delay. Although
several quantitative studies have been reported, few studies have used a qualitative …

Aims and objective To explore the experience of adult patients and adult patients' families,
and their perception of the support systems received during the diagnostic process of rare …

Rare genetic disorders, while individually rare, are collectively common. They represent
some of the most severe disorders affecting patients worldwide with significant morbidity and …