Saturday, April 13, 2013

undiagnosed children's day 2013

Today is Undiagnosed Children's Day.

Today is a day that is so near to my heart I can almost feel the rupture as I breathe the breaths that led me to a diagnosis.  The fight, the anguish, the torment, the brutal truths.  
With every test that was normal, with every blood draw that caused her no pain, with every seizure and every passing minute-I was in a world that felt more lonely and more isolated than any other place of my life.  

She couldn't see and we didn't know why.
Her brain was seizing 80% of the time and no one could tell me why.
She couldn't sit up but we didn't know why.
She couldn't gain weight.  We tried everything.  And no one could tell me why.
She couldn't poop on her own or swallow without choking but we didn't know why.
Her body was jerking constantly and yet no one knew why.

We tested for muscular diseases, genetic diseases, random diseases, autoimmune diseases.  We ran panels of her chromosomes and tested her DNA in every generic test that we could run.  

We enrolled her in every therapy that was offered.  Nothing helped.  
We saw dozens of doctors.  Some were helpful, I loved them and they have become dear friends to me.  Some were awful, seemed too busy and were never seen again.

I spent so many nights curled up on the floor of my bedroom pleading with God for an answer.  It was already settled in my heart that something was severely wrong with our Mabel girl but nobody could give me a name or a reason.  No one could help me make sense of any of it.  And all of these brilliant doctors were convinced that we may never truly have a name for what was causing Mabel to be so weak and so very sick.  

So I went on this internal journey.  
I was forced by this awesome God to, for the first time in my life, truly be still and trust Him.  And I did that. I became more meek than I have ever been before.  I learned to wait for Him rather than seek Him out.  
I began trusting that the steps I was taking were already directed by Him.  I became more confident in the choices I made regarding Mabel's care and in every aspect of my life because I was starting to understand that He had already intended for me to walk this exact path anyway.  

It was always something I had been taught but until I was forced to live it out, I couldn't grasp what it truly meant.  I found myself in the unknown places of a life that was so beautiful yet so uncertain and I truly learned to embrace a freedom and grace that I didn't know existed before.  

On this Undiagnosed Children's Day last year we still didn't have an answer for Mabel. 
 I remember still grieving so deeply and yearning for answers.  Little did I know that in just a few short months we would have the answer to our beautiful mystery wrapped grimly in the words of Dr. S,
"Mabel has NCL.  It is terminal."

My life was changed forever but I would never go back to the days of not knowing.
Not knowing felt like an uneven weight class in a wrestling match.  It was just too heavy.

I have several friends in the Undiagnosed community who are so at peace, so content and perfectly adapted to life as they know it.  I look at them and envy their ability to move forward and enjoy life despite the unanswered.  Their spirits are some of the strongest I have ever seen and I am so humbled to have been in their company; in this journey alongside them.  I draw from their wisdom in so many ways and am grateful that I have made and maintained these lifelong friendships.  
If you have just stumbled here and are the mom of a child who is currently undiagnosed, please know you are not alone.  There is a whole community of mom's pulling together right now in several different places that you can be a part of!  There are resources and support groups just for you and I encourage you to dive into them as soon as you can.  They will become some of your greatest allies and closest companions.
For more information please visit:

To read about a couple of my favorite boys who are still undiagnosed please click their names!


As of today Mabel is still somewhat a mystery.  There are currently 14 known genes associated with NCL.  Because Mabel's symptoms started so early (at about 2 weeks of age), the doctors all assumed she would have the infantile form of the disease and that it would clearly show up on the infantile genes.  Those have all been tested in Mabel and have all been negative.  We have moved on to other genes but the truth is that our bodies are so complex and research, although advanced and progressing, may not have ever seen the gene that Mabel carries for her specific NCL.  

Today, undiagnosed or not, I am thankful for exactly where we are and I pray that wherever you are in your life that the Lord meets you perfectly there.  

Celebrating with you today, friends, for our unique and beautiful gifts!

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