According to the definition of the World Health Organization: rare diseases are diseases or illnesses that affect 0.65-1.0 parts per thousand of the total population.
Rare diseases are the only comprehensive group of diseases in human history defined by their incidence, with more than 6,000 species, accounting for 10% of human diseases. Many diseases of the pediatric endocrine system such as congenital hyperinsulinemia, neonatal diabetes mellitus, and Barth syndrome fall under the category of rare diseases.
“How can patients with rare diseases quickly find specialists who are good at diagnosing and treating rare diseases?”
This is a pressing question in today’s world where precision medicine is strongly advocated.