Not long ago the 200th case of PURA syndrome was diagnosed globally.
This is momentous news for all of us! And I welcome this news as great progress in helping to support our ‘Rare Family’. It increases our ability to support research programs and our ability to better help and serve you, our families, as well as your doctors and care teams.
Last year I made several posts related to Rare Disease Day: on Linked-in, on Facebook, and at my day-time work. I was bringing attention to the fact that we are here and how rare we are. With each post I was struck not by how rare PURA syndrome is, but how we are not really all that rare!
While we are still an intimate group and we remain a close-knit family, we are no longer a group of 7 or 11 families. We are also part of a much larger community of families with other rare conditions. It is estimated that approximately 300 MILLION people globally have a rare condition. That’s a big family we’re part of!
So, Happy Rare Disease Day to everyone!
As you know: Alone we are rare, together we are strong.
Today we’ve been celebrating research work and continued progress. Let us also celebrate our lives together, our diverse experiences and our PURA children. Our community continues to grow. We welcome all of our new families.
We’re glad to have you with us!
Dominic J. Spadafore
President, PURA Syndrome Foundation.