Wednesday, February 27, 2013

Surfing for Trouble

Today, just when I really needed to be cleaning the kitchen, I found myself inexplicably drawn to trouble.  I did a Google search for information on muscular disorders.  I know better than to search even with a specific diagnosis.  Trying to search for vague information on medical conditions is insanity.  If not misleading, it is at least emotionally foolish.  Even though I know better, I can't make myself stop.  Why not?  The delay in meeting the specialists is largely to blame.  As brutal as the muscle biopsy and specific diagnosis will be, it will be better than my mind racing all over the place.

I know on one hand that it must be dire.  They are presenting clinically with the Gower sign at ages two and six.  They have several other symptoms, including ataxia, hypotonia for one, mixed hypotonia/hypertonia for the other, keratosis pilaris, vaulted palates and more.  They've both been symptomatic since birth.  Some things, like ataxia, have presented in the toddler window of development.  The clinical presentation alone rules out the higher functioning, better prognosis diagnostic potential.

One the other hand, they definitely do NOT have muscular dystrophy.  We do have normal blood work and and an EMG that rules out the entire catagory of neuromuscular disorders.  That leaves one of several dozen diagnoses.  With their higher than average intellegence and normal behavior, we can then rule out some other possibilities.  Is it any wonder that a mother might succumb to the temptation to walk into the specialists' office prepared?  The wait to get two patients in on the same day is too much to bear in the age of ready access to information.  I know that I should just wait to hear specific information for my own children.  I know that it will be better for us as a family to concentrate on happy family life.  I know.  Yet, I'm only human, and I fall to temptation as any mother would.

Tuesday, February 26, 2013

Untethered Blogging

So here we go: Being frank in this semi-anonymous form.  What our life looks like this week and where we are:

Yesterday, I took my youngest son to the neurologist.  I was slightly surprised to see a resident instead the doctor come in and take the recent history.  He did assure me that the neurologist would come in later, so I didn't think much of it.  Then, when the doctor did come in, he entered with a team of residents, including the first one.  The looks on their faces - excitement, anticipation, oh-boy-we-get-to-see-this-in-residency - I have seen this before.  I didn't pay them too much attention.  I know how it goes.  While I was almost in panic mode when I first saw those looks with my eleven week old first child, I'm old hat now.  I know that's part of why I'm in this position.  My children are a gift to the world, including the medical world.  It's an opportunity to learn and grow, and all they have to do is to walk around.  Well, and get up and down off the floor demonstrating the Gower Sign.  They got to see two brothers, one six and one two, presenting different stages of the same muscle disorder.  They got to see a calm, educated, assured mother.  Then, they got to hear the same mother discussing the younger child's unrelated trisomy which also presents with epilepsy.  They saw an appointment with initiating the formal diagnosis, and appropriate questions from the parent.  Ordering the EEG, and sending me off to the neuromuscular specialist - two fairly normal occurrences for future neurologist, but with a singularity!  This is a once-in-a-career opportunity for the young doctors and they get it in residency.  The neurologist himself knows how incredibly lucky he is to treat a rare - usually unsurvivable - trisomy paired with another rare, genetic muscle disorder.  So, I know the score.  Calm, cool, collected and professional are the way to play it.  I have a professional role here, too: professional mom, who is a burgeoning professional writer.  My job is to observe, remember, learn - and pass it on to you.

Saturday, February 16, 2013

Encouragement

This week, I was encouraged to start a blog about the adventures of my children's medical experiences.  Ha!  Well, I've been too busy caring for them to pursue this blog as I had intended, but perhaps that was a mistake.  Now, it's time to untether my mind and return to having a place to put all my frustration.  Now is the time to get this all out.  I also want to write a more comprehensive account of what we've been through, more than would be appropriate for a blog.  Blogging may be the brainstorming, and daily working through.  The rounding out, the full details - I'll keep for another format.  In the end, I'll post a link to whatever that may be.

Plus, this gives me a forum to include all my thoughts that wouldn't fit with the narrative.  It would be too scattered and confusing.  Blogging gets to be as scattered as I can make it!  It don't have to fret if it doesn't flow smoothing or desperately suffers from a lack of editing.  So, there's room for both.

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