My child has a disease.

Yesterday was D day.

The day we have been waiting for.

The Dr. called and we have an official diagnosis for Mabel.

 Mabel's cells tested positive for a group of diseases called "NCL's" [Neuronal ceroid lipofuscinoses] or better known as "Batten Disease."

 NCL's are a group of inherited, neurodegenerative, lysosomal-storage disorders characterized by progressive intellectual and motor deterioration, seizures, and early death. 

Visual loss is a feature of most forms.

In short, this is a brain disease.  The neurons in the brain essentially die causing the body's systems to shut down.  This eventually leads to death.  

 There is no treatment.  There is no cure.

And Mabel's disease is always fatal.

 I have spoken to our Dr. twice in the last 2 days.  He is kind, smart, supportive and loving.

The news was hard to deliver, I could tell but he did so with grace and ease.  

He even ended today's conversation  by saying that he doesn't feel that Mabel is any different today than she was yesterday but this at least gives us an idea of what to expect when things inevitably begin to happen with our girl.

 This a group of rare diseases.  In fact there is only one place in the country that tests for them and our Dr. just happened to send Mabel's blood that way.  

God has directed our path.

There are only a handful of researchers involved in the testing for these diseases.

 Dr. S said that in all of his career he has seen 2 cases of this disease.  

He knows it's a hard disease to talk about, let alone live with.

 There are a handful of genes associated with this disease but to make it simple for you to understand-

Daniel and I both had to carry a "faulty" gene that came together in order for this disease to be present.  In each of our children there was a 1 in 4 chance in this happening.  It feels overwhelming to think that we 'got lucky' two times with Nora and Braden.  

Speaking of Nora and Braden, they each have a 50% chance of being carriers of this gene.  However, it only matters if their future spouse also carried the faulty version.  It's rare but as you can see, there's always a chance of that happening.

 We are waiting for a DNA analysis to come back but when it does, we will have a little more insight to things.  It won't change this diagnosis though, as Dr. S assured me today once again that he is certain this is Mabel's disease.  

 Yesterday morning I woke up having a normal day and expecting to go about my life unaffected.  And yet here I am once again-changed.

Rache reminded me through my tears that I was not meant to stay comfortable in the 'unknown.'  

As hard as it was, I was beginning to feel at home there.  It is all we have known-

testing, searching, waiting, hoping and yet no answers came...

 ...and then the phone rang yesterday morning.  

And I shook as I dialed the number to return the call that would essentially change everything-and yet nothing all at once.

 Everything that I was told in those two phone calls was already settled in my heart long ago.  I was desperately pursuing a diagnosis because God quickened me to the knowledge that something was going on with our daughter.  And I feel really thankful for His guiding as we ventured along through a process that has been long, hard and agonizing.  

It was all validated with the sound of our Dr's voice yesterday.  It was all worth it.

 Because although she is absolutely perfect and beautiful, our daughter does have a disease.

A rare disease-something that I have been passionate about since I started researching them almost 2 years ago.  I fell in love with the families living with these struggles and I was determined to figure out where we fit into this realm of rare.

 Now that I know, I can sit here.

I can breathe.  

I can have an understanding.  

It can make sense in my mind.  And although today is not the day that I can wrap my mind around all that this diagnosis brings to us as a family, some day I will be able to grasp it fully and in that, acceptance will come.

With acceptance comes freedom and peace.

 I am determined to not focus on this disease and all of it's ugly characteristics.  

Mabel is Mabel.  

She is pure and perfect and created by the Holy and living God.  

She has a purpose so great and so true.

She is oh so alive.  

How then can I focus on, think about or fear death caused by such an awful thing called "disease?"

She's alive.  

 I feel myself going through each phase of grief rapidly and I know that the next few days, weeks, and months will be a mixture of many emotions rolled into one.  I can't possibly stop or hinder myself from feeling whatever it is I need to feel in order to properly deal with this news.  

But in the meantime, I feel strangely calm.

 I know that so many of you love us and have been alongside of us in this journey.  

Although I want time to process this the way that I'm going to need-I also am going to need your prayers and support as well.  This journey of unknowns is ending but a whole new chapter that is far more serious is beginning.

It's heavy and hard and sad.

But I appreciate your grace and patience as we navigate through our days.

 Of course I'm in disbelief today even as I type all of this information.  I no longer have to say to myself, "this looks like Mabel.  This could fit.  This might be it..."

This is it.

No more tests.  No more waiting.

No more.

I don't know if I can wrap my mind around that. 

 But I'm thankful to have an answer.

I'm thankful that we found a Dr. that was passionate about pursuing a diagnosis for our daughter and who was smart enough to do it quickly.  I'm amazed that just by meeting him, I knew in my heart that he would be the one to lead us here.

But ultimately I know that God's hand was upon him as I prayed that it would be.
There is a time for everything and this is our time.

 I wanted to type this up and at least give myself and everyone who loves us an idea of what is going on.  I kept it pretty basic and pretty medical.  

In the coming days, I'm sure there will be many posts of many kinds so please bare with me as I begin to dissect myself or while I retreat for awhile-inside of myself.

 Nothing has changed.

I woke up today with a nervous tummy and an uncertain feeling because the fact that I can look at my daughter and know what is causing her many complicated symptoms is overwhelming.
But I woke up loving her wholly and ferociously. 

I woke up not wanting to take a moment with her for granted.

  I woke up thanking God that I have breath.

I woke up determined to live this one life with grace love, maturity and strength.  

I woke up amazed at the gifts that I have been given.

I am not afraid.  I am not worried or scared.

I am ok.  

I am sad.  I am angry.  I am tried.

But I am ok.

We're going to be ok.  

Life. Death. Joy. Sorrow. Healthy. Sick.

We're still going to be ok.  Because this world is not our home.

It has never been and never will be our home. 

My hope is in you, Lord.  

In you alone.