Saturday, February 12, 2011

Mabel Update--post neurologist

Yesterday was draining.
Emotionally I feel like I may be hitting a wall.
But it was good. I liked our neurologist alot.
She is insightful, wise and full of knowledge. I believe that she is going to do us good in this journey.

The appointment was full of in depth questions and answers regarding Mabel and her health history. She was assessed and the MRI read.

Mabel's MRI is 'basically normal.'
She does have one gland (the pineal gland) that is slightly larger than what it should be for a baby her age, but it is not enough to warrant a diagnosis for her delays.

During the Dr's evaluation of Mabel and after having insight to what we had told her, her concerns seemed to shift after doing a test involving Mabel's response to pain.
The bottom line here is that she isn't responding to pain.

This was something I have mentioned to Rache a few times as one of the things that I found odd but I didn't mention it to the Dr. as one of my main concerns. She did the exam and I could tell that immediately her thoughts shifted from a 'delay' to something else.
She sat down at her computer and wanted to look up a couple of things.

When it was time for her to speak to us again, she explained that she is by no means giving us a specific diagnosis at this time. She hopes to be able to do that for us, but this may take alot of time.
The Dr. then went on to tell us some syndromes that she is concerned about. They are genetic and very rare. In fact, she has never seen a patient in all of her years with the specific syndrome that she has in mind. This will require her to do extensive blood work and urine samples and spend quite a bit of time researching these particular concerns in order to make a diagnosis or get clues for the greater puzzle. This particular syndrome is not only sad, but scary in more ways than one, but because we just don't know I'm not sure that I'm ready to share quite yet.
But maybe soon.

I can elaborate and tell you that it's a nerve disorder that affects a persons ability to feel pain and distiguish between hot and cold temperatures.

She informed us that this would be a long journey.
That we should keep up with therapies because it is crucial to have the therapists see her as often as possible. They will be the ones who will notice any significant changes to be reported because they will be seeing her more than any Dr. will.
I agree.

No matter what she finds, I believe that she will stick out this journey with us until we find an answer if there is one to be found. I have a peace about her although whatever we find, I am sure a second opinion (3rd, 4th, etc) will be warranted on my part.

I know that God has already worked this out for our good and His glory. There would be no way to tell in a normal infant that they weren't feeling pain. But because we had so many other concerns about Mabel, we were in tune to that and it could be the key to something much more serious than just a few delays. Because we are so early in this proces, I know that we have a great grasp on the tools we will be able to utilize along the way.

The Lord is at work and we are at peace.
Every smile that she gives, every giggle we hear--
it's all worth it. Every bit of it.

Please keep praying for answers.
for peace.
for unity in our family.
and against fear, anxiety and worry.

With your love and support I know we'll be ok.
And Im reaching out, asking for you to be here. Just be near.
And just love us. Because right now, I just need to know you do.


brandy said...

Ramee!!!! I'm praying!!!! <3

1 Whoever dwells in the shelter of the Most High
will rest in the shadow of the Almighty.[a]
2 I will say of the LORD, “He is my refuge and my fortress,
my God, in whom I trust.”
Psalm 91:1-2!
Praying for you to be covered in peace and for the Lords presence to surround your family and home! Whatever the outcome He will be your strong tower! I'm praying for the impossible to happen! With Him nothing is impossible! Be encouraged!

Jessica Kramasz said...

Praying for you and precious Mabel.

Mrs. R said...

Your family--especially Mabel are in our prayers Ramee. I hope that you find peace in a diagnosis soon. I know that whatever the outcome may be that the Lord is trusting you with a very precious girl!!

Tiffany said...

I am praying and praying and praying and loving you from afar.

Verena said...

Oh Ramee....noone should deal with such a situation....i will keep you and your family in my prayers.

Somer said...

Praying for little Mabel!