Wednesday, June 29, 2011

[still] in the wait.

We got to the children's hospital about an hour early.  I went into the bathroom to throw on my clothes, and do my make-up.  My mom always taught me that whether you feel put together or not, you should always look it.  So I remembered that as I calmed enough to put my mascara on.  And then my blush brush fell into the wet sink. 
A couple of minutes later when I went to the bathroom, the button popped off of my pants.  I was thankful I had brought a long enough shirt to cover the missing piece.
Speaking of the missing piece...
Our appointment went well.  Mabel is 27 1/2 inches long and 14 pounds.  She has only gained a few ounces in the last 6 months, despite being introduced to baby foods. 
We met the intern and genetic counselor that I spoke to on the phone and I liked them both.  This intern is a young guy and seems to really have the drive to figure out this puzzle.  He is inquisitive and seems intrigued by Mabel (and I hope all of the other patients.  He'll be a great doctor!) 
We spoke briefly and then we met with Dr. A.
He looked Mabel over but not as closely as I had thought.  I believe that this intern had been looking over Mabel's symptoms on paper for quite some time and therefore they already had an idea of what they may be looking for during testing.  Mabel doesn't have any physical characteristics that would lead us to a clinical diagnosis--meaning that just by seeing her, he could tell us her condition.  We were told that because of this, it is still very much a game of elimination. 

You see, separate, Mabel's symptoms are all bad enough.  But together, her symptoms could potentially be leading us to a pretty heavy diagnosis.  When I thought we had tested for the worst and most discouraging disorders months ago, I now wish we were still on that same page.  But not really--I wish we weren't in this book at all.  But we are, and we are here-running blood work for diseases that are terminal.

I hate that word--terminal. 
We are all terminal, are we not?  This is not our home.  We are all going to die and then live eternally in Heaven if we know Jesus.  It just seems so cruel to use a word so strongly when it comes to a child--especially when discussing my own.

Mabel's retinal dystrophy may be the key needed to find a diagnosis.  It's like the smoking gun in all of this.  OR...it could be completely separate and random.  Just like her other symptoms.  They could either all go hand and hand or they could be completely separate and unrelated.  That is why this is such a tricky process.  But I have known all of this for a very long time because of my own research, so thankfully during our visit yesterday I heard nothing that I haven't already considered, recognized or come to terms with.
The tests that they ran yesterday should be back within one month.  If we get an answer, then the digging process will cease and the care process will continue.  We will continue to live life and life it fully.  If there is one thing I can say that Daniel and I do really well [besides making pretty cute kids] is that we know how to live life together, and with others really well.  I look forward to feeling like I can breathe again instead of living in constant wonder.

If we do not get any answers and everything looks good, we will push on and continue testing.  Dr. A said he would take this as far as he could.  Sometimes no answers are to be found.  I am ok with that as well.  If I knew that her brain looks normal, her cells look normal, her genes look normal--then I will be at peace with accepting these major symptoms as they are separate. 
But I truly believe we are going to get answers in this.  That is what we are praying for.

So a couple of the major tests that they are running are a full genetic panel, tests for mitochondrial diseases, and Peroxisomal Disorders, among many others. 
Please continue to pray for answers. 

It was such a long, exhausting, overwhelming day but it was exactly what I had expected.  We just added another key player to Mabel's medical team and I am thankful.  The more the merrier.  I know that I have done everything that I can do up until now to figure out what is going on with our girl.  I feel confident in the process and confident in the abilities that God has given me to be smart, diligent, focused and determined.  I am thankful for those qualities, now more than ever.

I believed the Word of God before any of this happened and I will not let circumstances of this life alter the true and living Word that I love.  It is God-breathed, full of peace and an anchor for my soul.  I feel a peace beyond my understanding.  The Lord has a plan and His purpose is for good; to prosper.  Mabel is pure, innocent, perfect.  She is renewing so much hope in me, and I pray in you as well.  I pray that whether her healing comes in a physical way or not, that Mabel would manifest in your spirit a revolution and a need for God that is urgent and strong. 
The Lord is my refuge and strength, my ever present help in time of need. 

Those who hope in the Lord will renew their strength. They will soar on wings like eagles; they will run and not grow weary, they will walk and not be faint.
Isaiah 40:31

2 comments:

Jessica said...

I wish the word "terminal" never had to be used in regards to children. Its just so sad.
I will be continuing to pray.

Valerie said...

Ramee, you are so strong and brave for Mabel! She is lucky to have you and Daniel as parents. I am hopeful that an answer is coming soon, and I am so proud of you for your strength thru all of this. love you lots. Thanks for posting an update! Love you! sending hugs for the kids!xoxo