Thoughts About Rare Disease Day 2012

January 29 is International Rare Disease Day.  Strangely enough, rare diseases are collectively not rare – about one in 10 people have one.  Or if you’re like me, you have/had multiple unrelated (or related, who knows!) rare disorders.  It’s striking, though, how common they are.  Everyone knows someone who has something.  And for me, I think that’s why I connect to Rare Disease Day.  I mean, raising awareness for Moebius syndrome is needed and wonderful but I like how Rare Disease Day contextualizes everything for me.  My experience, although unique to Moebius syndrome, is actually not that inherently different from people with a variety of different medical conditions.  But without Rare Disease Day and some of the organizations such as NORD who are working to unite the rare disease community, we wouldn’t be able to connect and realize that we share these similarities even with different conditions.  So for me, that is the take-away part of Rare Disease Day 2012: that we share so many similarities across disorders and conditions, and that need to learn from each other and work together to promote change and understanding.  And I think it’s happening, slowly but surely.  At least I hope so.

Rare Disease Research

Research is critical for many, many rare diseases.  Some people with rare diseases will not survive without treatments and interventions that can only be accomplished through research.  Although specific treatments don’t yet exist for Moebius syndrome, there is a possibility that they could eventually exist and be used to help all of us.  Plus the knowledge of the specifics of what all the causes of Moebius are would be welcomed by many people in the community.  We’re lucky to have some very dedicated researchers interested in Moebius, definitely not an easy feat for an uncommon disorder!

 Many other disorders aren’t as lucky, and have trouble securing the researchers and the funding to find potentially-lifesaving treatments.  For Rare Disease Day 2012, NORD and Lundbeck are working together to raise funds for research: