Wednesday, July 6, 2011

Ella's Road Narrows...

Ella helped celebrate her sister's birthday on July 5th.  She watched with wide eyes as Ava opened her gifts, she travelled merrily to the pool with us finding immense pleasure in the water as we took her further out than she's ever been.  She napped without making a peep (as usual), played on the deck with Ava and Henry, ate a hearty dinner and smiled as we sang 'Happy Birthday' to Ava.  She filled her mouth (and face) with cake.  During quiet time, she sat with her brother and sister, watching TV and enjoying family quiet time.  She played in the tub with her siblings and found her way to slumber soon after.

All in all a good day for our little "Squishy".

We received a call from Ella's pediatrician and then from her neurologist this day. 

Her blood work has been completed and evaluated.  There was thankfully only one poke Ella had to endure to gather enough blood for several tests.

The pediatricians office called first.  They told Lindsay that about half of the tests came back normal and the other half were not normal.  They told her further that they are going to fax the results to the neurologist since many of these tests are quite specific and they are not trained to interpret the results as the ordering neurologist is.  They did, however, give us the readings and Lindsay jotted down the notes.

We talked briefly about the results.  We decided to give it a rest and go on with our plans to take the kids to the pool to celebrate Ava's BD.  We would resume "talks" when the kids napped.

After the pool, we paged the neurologist and he quickly returned our call.  He reviewed the results with us over the phone.  The blood work did show some abnormal levels of several markers...he said the levels were just slightly above the normal range and they would not be considered a reason for her hypotonia.  In other words, a metabolic origin of the hypotonia has basically been ruled out.  Her enzymes are not playing a significant role in her lack of muscle tone in her thighs/hips.

Our initial reaction upon hearing news that the markers were basically normal was one of..."oh good"... but then the reality of that news hits us. If it's not a chemical problem, then it must be a physical problem.  Something having to do with the muscles themselves or possibly the nerves. Or both? It's like the good news is supposed to provide an end...but as we are finding out, it only narrows the road of possibilities.  We're used to getting results from doctors and then having a plan of action to "correct" things...not the case here.  We keep on keeping on.  We tell each other that we will figure this out...we tell Ella the same.

Ruling out the enzyme factor does rule out several more scary disorders.  We have eliminated central nervous system disorders and now metabolic disorders.  We are left with muscle and/or nerve disorders. 

Her EMG is scheduled for July 18.

Her neurologist has planted the seed of further tests if we continue to rule things out without finding the origins of the hypotonia; specifically genetic testing and a muscle biopsy.

We must wait for the EMG to show us what it reveals first...from there we will have a more clear view of the next steps.

They say hypotonia can be caused by any one of thousands of disorders.  Many people with hypotonia never get diagnosed or properly diagnosed.  

The road we travel with Ella is one that is traversed one moment at a time. It narrows as we go and we huddle closer together.

The moments of this day for Ella were spent really enjoying herself on her sister's birthday.

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