Rare endocrine disease: Still a long and a winding road

I’m very proud to welcome you to this special issue of Endocrine dedicated to rare endocrinological conditions. It marks the 2021 recurrence of RARE DISEASE DAY, which takes place every year on the last day of February 28th. The primary goal of this world-wide initiative is to heighten awareness in our societies of the existence of rare diseases and the impact they have on the individuals living with them and their families. Heightened awareness and understanding not only among the general public but also among policy makers, public health authorities, industry representatives, researchers, and health professionals.

This year’s RARE DISEASE DAY takes place in the shadow of the COVID-19 pandemic, which continues to wreak havoc in virtually all corners of our world, a terribly “perfect storm” that threatens to overwhelm our healthcare systems and nullify many of the efforts made over the years to alleviate suffering. And nowhere, perhaps, is this threat more frightening than among the world’s 300 million vulnerable individuals with diseases so rare that even obtaining a diagnosis can represent a struggle, let alone treatment and ongoing care.