Wednesday, February 29, 2012

Rare Disease Day 2012

 My girl woke me up at 4 am this morning.  As I fed her a bottle in the dark of night I couldn't help but be excited for the day ahead.  
Today is World Rare Disease Day.
 The Global Genes Project and Fund [on facebook] has been incredible about spreading the word and highlighting stories of hope for the last month.  It has been inspiring.
It has spurred us to action. 
 In fact, Mabel's Able surpassed our goal this week when we collected over 20 Scentsy Buddies for our very first Buddy Drive.  We will be delivering them to the local children's hospital in the month of March and we couldn't be more excited! 
 I read this morning that a disease isn't rare until it directly affects you.
It's so true.  
I am so thankful to know the brilliant and beautiful people that I have met along the way, but I wouldn't have thought twice about rare disease until our little girl started showing symptoms of one over a year ago.  
But that is no one's fault.  There isn't enough awareness.
And even if there were more, I was unaffected.  It didn't impact my life.
What is it that Oprah always said?  When you know better you do better.
 In reading all of the stories of hope over the last month I couldn't believe all the families who are undiagnosed just like we are.  Several of them suspect a mitochondrial disease but without the research there are far too many 'rare findings' to give them a definitive answer.  
I am inspired by the amount of hope these families have.
The determination that they exude.
I pray that we are one of those families.  
I pray that we have the endurance to be brave and find an answer for our baby. 
 Days like today are overwhelming in the best of ways.
When people are coming together collectively for the good of someone or something else, it is a powerful thing.  It is the same energy that I felt during our first ever 5k last year.  
It is by far, the greatest feeling knowing that people are rallying together for something bigger than themselves.
 The statistics are staggering.
There are 7000 rare diseases.
Many of them with no treatment or cure.
Those are only the ones that are diagnosed.
 Before I knew what this life was like to actually live and breathe and survive in medical jargon I had strong opinions on certain things.  I wasn't educated and I trusted my church to guide my morals.
And then we had Mabel && I felt a new kind of hope.
A hope that only a mother feels for her child.
A hope that the world needs more of.
A hope that only siblings eyes can bring.
 Today is not only a day for awareness.  It's also a day for action.
Today more than 70 patient advocates are on the Hill meeting with Members of Congress.  You can join them by calling your Representatives and asking them to support efforts to spur lifesaving treatments for rare diseases in honor of Rare Disease Day.  
 Please don't misunderstand me.  Some families wouldn't choose these treatments even if they were available.  
But some would.
And they deserve that option.
 Their lives are worth saving.  
Their disease doesn't make their life of less worth than yours or mine.
What if it were your child?...
Your mother?...
Your spouse?
 Because it could be.  
You may not be directly affected right now, today...
but this is more common than what you probably understand.
None of us get an out.
Disease, especially rare disease, is no respecter of persons.
Disease doesn't care who you are, how old you are, how good of a person you are, or how much you believe in the power of God.  
Disease just is.
 I don't look at Mabel as a disease, a diagnosis, or lack thereof.
I look at Mabel as Mabel.
Unique and perfect.  Precious and gentle.
A little girl with big symptoms who deserves a fighting chance at life...
...and people around her who are educated enough to help in the fight.
 All I'm asking is for you to understand...
That we don't live in the tight little boxes that we once created for ourselves.  
Life isn't as black and white as what you would like it to be.  
And that is uncomfortable for some.
I'm sorry.
Today, we're just asking you to rise up.  Feel pride for the families who are doing their best and joining together on this day that is so powerful and yet subdue.  
To show your support, wear a pair of your favorite jeans.
"Jeans for genes."
 If you  haven't already, please like "Mabel's Able" on facebook.
This year's slogan is powerful beyond belief:
Alone we are Rare.  Together we are Able.

Let's join together.

1 comment:

~Ariane~ said...

These pics of Mabel are SOOOO cute!!