Thursday, September 16, 2010

Light as shadow

For our first wedding anniversary, my husband took me to Death Valley.  An odd choice, I know.  But I was enthused.  He said it was the most amazing place he had ever been--he grew up in California.  If I remember correctly, his mother let us take her red sports car (was it a convertible?) off into the desert.  From Palm Springs to Death Valley.  From one sort of resort town to another.  From the Happy Desert to the Scary Desert.

Death Valley is a place of extremes.  Obviously.  I remember our snapshots: posing in front of various rock formations, the salt flats cracked and dried and looking suspiciously like octagonal Metro tiles, the haze over the valley from the highest point.  And the highest point was very, very cold.  After we had been hot, even in November, we were very, very cold.  The wind always there, wherever we were.

But everyone knows these things about Death Valley.  My clearest memory, one that isn't recorded by a photo, is of the stars.  After an anniversary dinner at the park's 19th century lodge, we drove for a bit, out into the night desert where the sky settles like an enclosed dome.  Over the sand reflecting weak light into the distance, over the car, over us.  Of course, you know what I'm going to say, that the sky bristled with stars.  That they were everywhere.  That the Big Dipper was hard to find.  That it was beautiful--but it wasn't.  I felt a sense of awe, rather, and I was afraid.

What I saw was everything I had never seen before.  Where I live, bright lights cast shadows against the sky, covering up all but the brightest stars.  In Death Valley, I saw what I never see--every star revealed to me, crowding thickly, begging attention. A thousand thousand unblinking eyes looking at me.  A million possibilities brightly pricked into the ethereal fabric of a single life.

Of course I felt fear.  There are things that will happen to us that we should never sense or see.

All the stars clustered and strewn over the sky without a path between or among them.  We've just been through yet another round of medical testing that has yielded very little--and, this time, we've thrown real money at it.  The initial lab bill was almost $16,000.  Our co-pay was about $1,300.  Upon opening the envelope, I had to call the Cleveland Clinic, just in case they made a mistake--we weren't hospitalized, after all.  I mean, I've seen hospital bills for more.

These were genetic tests--one test alone was approximately $5,000.  The DNA microarray came back without findings.  The mtDNA analysis was returned with a single finding, an unreported defect on a non-coding portion of the chromosome.  I was tested; I have the same defect.  Because I'm OK (a relative term, I know), the assumption will be that the defect is non-pathogenic.

I know from amniocentesis performed during my pregnancy with my daughter that I also have a 'variant arm' on a noncoding portion of one of my chromosome 20 pair.  So my genome is a little ragged.  Yours probably is, too, you just don't know it.

The sky is littered with stars I would rather not see; my mailbox is littered with test results, the which negative findings are both welcome and unwelcome.  Twelve years ago, these negative results were a cause for celebration--because no one could identify what was wrong, the possibilities of Robert's life shown through the dark fabric of his illness.

Now, with possibility winnowed, frustration sets in in a way it hadn't before.  Of the thousand thousand diagnoses out there, which one does my kid have?  We keep sifting the sky.

For now, until I am told otherwise, the diagnosis of exclusion, or, perhaps it will be a clinical diagnosis, is Leigh's syndrome. That is the name for the picture his brain makes on the MRI--the way the scan darkens where it should not.

There are more tests.  Having done the mitochondrial blood tests, there is still a skin biopsy.  The possibility of referral to a geneticist in Cleveland, someone who can parse the genome and its discontents--someone who may be able to connect the bright spots of this presentation with medical evidence.

What we know: a breakdown with pronounced ataxia and loss of motor skills that at least mimics the breakdown of Leigh's syndrome, an MRI that presents as Leigh's, a handful of negative tests to rule out other conditions that cause that brain image also known as bilateral striatal necrosis, an organic acid quantification that shows abnormality of metabolites of dietary medium chain triglycerides, a cerebral-spinal fluid analysis that shows significant neurotransmitter deficiencies.  These few facts gleaned only over a six-year period.

Back to the starscape.  Now I can identify a few points in an emerging constellation, a constellation marred by thousands of stars crowding around those points.  In this world, light is shadow.  As I move from the desert and its stellar confusion toward civilization and its artifice (not its pretense, but its making), the light shades night and the irrelevant stars disappear.  The constellation emerges, right?

People thought we were odd, not to go to Death Valley at all, but to go there for our first anniversary.  What I saw was everything I had never seen before.  The trip was preparation for this life--a life of awe and wonder, a life of extremes.  And, still, we smiled genuine smiles in the photos.  Because we liked it there.


Elizabeth said...

That's about the most perfect description of what it's like that I've ever read -- and all in Death Valley, no less. It's why I am afraid and then, again, not.

Alicia D said...

This is such a beautiful post!