Rare Disease Day

   Rare Disease day is something that brings very mixed emotions.  Somebody asked me if I knew it was Rare Disease Day and I wanted to respond with, 

    “I lived rare disease for 23 months, I know what freaking day it is.”  

   But I didn’t, and just said yes.  I’m glad that there is awareness and a movement to bring research and funding to the Rare disease community; but also it brings back all those memories of not knowing, living in a storm cloud, and moments of darkness standing in hospitals.  Rare diseases will truthfully screw up your mind worse than anything will.  You go to the doctor and they tell you what’s wrong.  They give you information or something to fix it.  You go back to your life. 

Imagine multiple professionals in the field looking at you and saying, “I don’t know.  I can’t fix this.”  FML right?

   We live in an “instant gratification” world and that makes it 10x harder to deal.  You expect your phone to work immediately, you expect your food in 2 minutes or less, and you will be damned if somebody puts you on hold.  Now imagine that every day you wake up, every appointment you go to, you hope for answers.  Then you walk out and you have nothing.  No reason why the seizures happened.  No solid answer on why your precious little angel has to go through this hell.  No timeline for anything, especially how long you have her.  Now it probably seems ok to wait a few minutes for the lady to fix your hamburger, doesn’t it?

   I always said that Penelope’s diagnosis was not her definition.  Mainly because we didn’t have a definition and we had to make our own.  She wasn’t on this Earth long, but it was long enough to open my eyes to what is important and what can wait.  Rare disease day is much more than just acknowledging there are things in this world we don’t fully understand.  It is for the Moms and Dads crying every night because they can’t help.  It is for the kids going through unimaginable days.  It is for the doctors who work tirelessly every day to help, but sometimes have to say, “I don’t know.”       Maybe one day we won’t have to recognize this.  Today though, I’ll just cry for a minute and keep on trucking.