Transforming care for rare diseases

Rare diseases are diseases with a very low prevalence rate. However, in different nations, the term "low prevalence" is defined differently. Furthermore, in many countries, the term "rare disease" is defined by the total number of patients rather than the actual prevalence of the disease (i.e., proportion of the population being affected). Patients with rare diseases confront particular problems, beginning with prolonged diagnostic delays due to the fact that many health care practitioners have limited experience identifying rare diseases and may overlook the early symptoms. Once a diagnosis has been made, the following step is to find a qualified medical professional who can treat the ailment. Furthermore, there is frequently no cure available. Finding enough information on the disease, its likely progression, viable treatments, ongoing clinical trials, and so on is another big issue for caregivers. A greater understanding of the entire management of patients with rare diseases who are treated solely outside of primary care might benefit their care.