Every year on February 28, Rare Disease Day reminds the medical community of an important reality. While individual rare diseases are uncommon, together they affect a significant proportion of patients worldwide. More than 300 million people worldwide live with one of over 6,000 to 7,000 identified rare diseases, representing nearly 5% of the global population. This highlights that rare diseases are not merely academic concepts confined to textbooks. They are already present in everyday practice, often hidden behind familiar symptoms.
Approximately three quarters of rare diseases are genetic, and nearly 70% manifest during childhood. Many follow chronic, progressive, or life limiting courses. About one in five cancers is classified as rare, reinforcing the need for diagnostic vigilance across specialties. Rare conditions are encountered not only in genetics or pediatrics but also in…
