Each year on February 28 - or February 29 in leap years - awareness of rare diseases is raised, a reality that geneticists encounter daily in clinical settings. Rare diseases are not uncommon; rather, it is the timely diagnosis and equitable access to care that are lacking. It’s estimated that over 300 million people worldwide live with one of the 6,000 to 8,000 different rare diseases, highlighting a substantial global health challenge despite the individual low prevalence of each condition.

The World Health Organization classifies a disease as rare if its prevalence is less than 1 in 2,000 newborns, providing a framework for unifying diagnoses and health policy internationally. This classification emphasizes the need for coordinated efforts and resources to address the unique challenges posed by these conditions, as the complexity and diversity of rare diseases can lead to significant delays in diagnosis and treatment. Consequently, many patients and their families face a lengthy and often frustrating journey to obtaining the care they need.

The choice of February 29 as a day of recognition for rare diseases is no coincidence. This day symbolizes the rarity of these conditions, reflecting the experiences of individuals and families who are part of this community. It serves as a reminder of the importance of raising awareness and encouraging further research, healthcare accessibility, and policy development to support millions who are impacted, ultimately aiming to mitigate the burden of rare diseases in societies worldwide.