Background Individuals with rare diseases may face challenges that are different from those
experienced in more common medical conditions. A wide range of different rare conditions …

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 In the absence of a cure for the majority of rare diseases, the disease
management aims to provide optimal supportive care. The goal of this study was to assess …

Over half of all persons with rare diseases (RDs) in Spain experience diagnostic delay (DD)
but little is known about its consequences. This study therefore aimed to analyze the …

Background For patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is
one of the key issues that hinder RD patients' accessibility to timely treatment. Yet, little is …

Background The importance of the Internet as a medium for publishing and sharing health
and medical information has increased considerably during the last decade. Nonetheless …

Background The COVID-19 pandemic is affecting many areas of life and has posed
additional strains on the highly vulnerable group of caregivers of children with rare diseases …

Background Rare disease patients find independent health information seeking necessary
due to the general lack of knowledge on rare diseases and inadequate information provision …

Abstract Background Many European countries have recently implemented national rare
disease plans. Although the network is strengthening, especially on the macro and meso …

Background Finding reliable information on one of more than 7000 rare diseases is a major
challenge for those affected. Since rare diseases are defined only by the prevalence …