Friday, June 24, 2011

What Would Ella Say?


She waited for over an hour.
She played with books in the waiting room and ate her snack.
She watched another child put a puzzle together.
She smiled at a boy watching a movie.

When in the examination room she watched herself in the mirror.  She laughed at her reflection.
She played "pass the baby" with mommy & daddy.
She tossed her head back in hopes of being tickled on the neck (her hopes became reality).
She drank her water, ate her snack, and waited.

We waited.

The pediatric neurologist entered the room.  It was almost as if I expected him to know everything we had gone through up to this point.  I was ready for some kind of an answer.

He only knew us through paperwork and an MRI he just read moments before.  The MRI of Ella's brain.

Ella greeted him with her look that says, "Whozzhatt?"

The doctor shook our hands and the process began.  We answered questions. Questions we had thought were going to be asked and questions that were unique.  

We spoke for our "Squishy".

We tossed out our thoughts and the doctor received them.  We went back and forth exchanging ideas and information.  Ella chimed in as a one-year-old might, with little noises and inflections.

We were told that the MRI was normal.  Ella's brain was healthy.  I stroked her head when we were told that good news.

We were told in so many words that her inability to walk at this point in her life was not due to a developmental delay.  This was surmised by the simple fact that she had been developing "normally" for the first 5 months of her life.  At that point, however, her physical development stagnated.

With that news, both Lindsay and I drew a blank look.  If this was not a brain thing and it wasn't a developmental delay, then what in the world is going on?

Something I think Ella would have said herself.

The doctor explained many things to us.  In the end it comes down to the process that he was trained in; the scientific process.  In medicine, when diagnosing, one must eliminate all other possibilities to get at what is really happening.  So the process has begun.

Ella's process starts with three tests.  These are designed to pinpoint where, exactly, the problem lies.

Is it with the muscles?
Is it with the nerves?
Is it with the enzymes?

Three tests must be performed.  

A simple blood test can help the doctor identify nerve function.  
A more invasive test called "nerve velocity" can tell the doctor more about the muscle.
A longer test (in terms of getting results) called a metabolic work-up will tell us if there is an enzyme problem (enzymes assist chemical reactions that produce specific outcomes--if the enzyme is "bad" the outcome does not occur, ie: muscle movement).

The doctor examined Ella.  He held her up high with one hand under her belly to test for muscle tone.  Her arms spread and her legs hung.  He had her on her back and rolled her legs around, he squeezed her legs.  He checked her spine, her fontanel, her reflexes.

Her reflexes.  The bottoms of her feet reacted well to the test.  The doctor was, however, hard-pressed to produce a "knee-jerk" reflex.  Three times on each leg he tried, twice with his finger and once with the "hammer".  His brow furrowed a bit at this lack of reflex.  He tucked this info in the back of his mind, a mental note if you will.

So we test and we wait.  

We wait some more to find out what is going on with our "Squishy". 
 
He lifted Ella up and held her in his arms.  They looked at each other.  He smiled and she babbled.

I wonder what Ella would have said?


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