Thursday, July 19, 2012

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.

17 comments:

Danielle said...

Mabel is gorgeous. Your faith is insanely amazing and so inspirational. I hope one day I can meet you and walk away with half of the spark in your eyes that shine with the love you have for Mabel. Your family is in my prayers. You are so right-this isn't our home and I can't wait till we can all be home hugging our perfect children in bodies that are perfect for the first time. God's richest blessings to you and your family!

shelley colquitt said...

Mabel is beautifully and wonderfully made..That being said I know the fear of hearing what this disease is and what it brings.The only words of wisdom that I can give is this. make sure to give her a childhood a complete one for how ever long she has and you know what? these kids of these horrible rare diseases surpirse us every day ... I was given 1 year and it has turned into 11

Rieses in Pieces said...

Oh Ramee ... I am so sad for you and for Mabel. I am sending you my love and my thoughts and I am sending prayers to God to keep your sweet Mabel safe from harm and as healthy as possible for as long as possible.

Mabel is a beautiful child. A gift from above and she has something to teach all who know and love her. She is special and I don't mean in the disabled way. She truly is SPECIAL. There is just something about Mabel...something that steals your heart upon meeting her.

Once some time has passed and you become more used to her diagnosis, I have no doubt that you and Mabel together are going to change the world ... even if it is just the world of Batten's Disease. You will raise awareness as you already have to the world of unknown syndromes. Because of you and Mabel, another child's parents will find the answer to their child's symptoms. And they will forever be grateful to you.

You are an awesome example of a mother bear who will stop at nothing to protect her children. You inspire so many. I am very proud of you.

Please let me know what I can do to lighten your load and your sweet mama's load. I know how painful it must be for her not only to have a beloved sick grandbaby but also to see her child in pain because of it.

God bless you and Mabel, Ramee. I love you all.

Diane said...

You and your beautiful family are in my heart and thoughts.

Angela Sims said...

Dear Ramee

First, I have to tell you that I love your writing. You share your family with prose and grace. I wish I could communicate as beautifully as you.

Secondly, I am the mom to a special needs son, Riley. We live in Sidney, just east of Chambana. Riley will be 11 at the end of the month and we have yet to find a diagnosis.

Like you, we struggled with this for a few years and were frustrated that doctors couldn't be bothered to figure out this enigma. Then in 2008, we almost lost our boy. Since then, finding a diagnosis has taken a distant backseat to enjoying our son. We've come to terms that he's just Riley. He has partial labels all over him, but as a young mother, I had a strong need for some kind of "welcome to this disease" and here's what you can expect for the next 2-30 years. I don't think that will ever happen for Riley, and I'm OK with that because we love him for who he is.

I am glad that you have found a name for what is inhibiting your beautiful Mabel. She looks like a sunbeam in every photo you share. I imagine she's positively brilliant in person.

You said it well when you said that you can now have understanding. You are a strong woman who has built a home of love for everyone that lives under your roof. God gave you Mabel to love for the time that she is here. He wouldn't give a special gift like her to just anyone. I know.

Many prayers for you and your family in the minutes, hours, days, weeks, months, and years to come.

Angela Sims said...

Dear Ramee

First, I have to tell you that I love your writing. You share your family with prose and grace. I wish I could communicate as beautifully as you.

Secondly, I am the mom to a special needs son, Riley. We live in Sidney, just east of Chambana. Riley will be 11 at the end of the month and we have yet to find a diagnosis.

Like you, we struggled with this for a few years and were frustrated that doctors couldn't be bothered to figure out this enigma. Then in 2008, we almost lost our boy. Since then, finding a diagnosis has taken a distant backseat to enjoying our son. We've come to terms that he's just Riley. He has partial labels all over him, but as a young mother, I had a strong need for some kind of "welcome to this disease" and here's what you can expect for the next 2-30 years. I don't think that will ever happen for Riley, and I'm OK with that because we love him for who he is.

I am glad that you have found a name for what is inhibiting your beautiful Mabel. She looks like a sunbeam in every photo you share. I imagine she's positively brilliant in person.

You said it well when you said that you can now have understanding. You are a strong woman who has built a home of love for everyone that lives under your roof. God gave you Mabel to love for the time that she is here. He wouldn't give a special gift like her to just anyone. I know.

Many prayers for you and your family in the minutes, hours, days, weeks, months, and years to come.

Truth Ferret said...

I have been following your story, through my daughter, Amelia. My heart is so sad for you and yet I am glad that you have a "label" and that part is over. You have a precious family and the love shows in Mabel's face. Keep strong and when you feel like "talking" you have many here who send their love and support. Stephen's Nana (Soupsandwich Messedup on facebook)

Amy said...

R,Wow! All I can I say is "Wow". As a Mother I can not begin to put into words what is going through your mind, your heart, your spirit. Your Mable girl has never been of this world. She is too pure. She is too sweet. She is an educator without ever going to school. She is the face of love. Thank you for sharing her with us. She is here to teach us all a very big & important lesson. And I am glad to be in her class.

mapleaz said...

I linked to your blog through my friend Pamela Marshall. Our son Archer is 22 months, and has PBD like Ethan. He was diagnosed four months ago. I just wanted to let you know you are not alone. I try not to focus on the what ifs and fears inside my head, but try instead to celebrate the child we have TODAY. Our families sends lots of love to yours........

Amanda said...

Mabel has beautiful toes, beautiful eyes, an infectious smile, lovable cheeks, such fun hair, great coloring to wear yellow and genuine happiness. Mabel has a strong family, a loving Momma, a gentle Daddy and 2 very protective siblings. Mabel has a loving, comforting Father that will always hold her in His palm. And that is all that matters today. Tomorrow will come, but today is a day to celebrate family-in all sense of the word-and love on the gift you've been given in Miss Mabel. Always in our prayers.

80 said...

Ramee, your strength an faith are always inspiring. I know that this will be a trial for you, but God will comfort you as you allow Him to carry your family through this diagnosis. I love you and pray for all of you often. Hugs and love to all of you. Everyday that any of us are alive is a treasure. Take care, my friend.

Maywine said...

Oh my dear. Enjoy what you have past, present and future. Know that you are carrying out God's plan, despite all of the sacrifices.

Heartfelt wishes everyone. We will keep all of you in our prayers.

There will be more sunny days, believe it!

Maywine said...

Oh my dear. Enjoy what you have past, present and future. Know that you are carrying out God's plan, despite all of the sacrifices.

Heartfelt wishes everyone. We will keep all of you in our prayers.

There will be more sunny days, believe it!

babyfoodsteps said...

Strength and Prayers for you and your family...

Kate1958 said...

We lost our mother to an incurable cancer almost 6 years ago. We knew for 2 years that there was little we could do to change the inevitable. When we asked her what she needed from us-she said "your strong eyes"...so that is what we gave her each day. God led us through each and every day....and our worst imaginings simply never happened. We lived each day at a time and celebrated two wonderful years of birthdays, Thanksgivings, Christmases and family gatherings every chance we could. My sister Kathy Matherly has shared this with me tonight-and she will share with you a very special Cross. God bless your precious family as you face this life challenge. Thank you for sharing your story-Mabel is beautiful-as is your heart. You will all be in our prayers.
Claudia Roberts Bima❤

Elastagirl said...

Your writing is beautiful and moved me to tears. She is a beautiful little girl!!! I found you through BlogHer, my blog is www.myincrediblefamily.com. Blessings to you and your family as well as prayers!

Reese said...

I don't know what to say, but i do not i can't say nothing. You all have my love and prayers.

Reese