Recent Blog Posts
Please reload

Blog Archive
Please reload

Search By Tags
Please reload

Celebrating a (not so) rare 200!

February 27, 2018

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!

#PURAperfect

#PURAresearch

 

D

Dominic J. Spadafore

 
President, PURA Syndrome Foundation.

d.spadafore@pura-syndrome.org

 

Please reload

The PURA Syndrome Foundation is a registered 501(c)(3) charity organization. Information on this website is not a substitute for personal medical advice. Families should consult a medically qualified physician in all matters relating to genetic diagnosis , management, and health . Information about PURA and genetics in general is a very fast moving area and while the information on this website is regarded as the best at the time of publication , some facts may change later .