Monday, March 02, 2009


I had a long talk today by phone with an old friend who is a geneticist.  We talked about the impact of the email I received this morning from the Israeli doctor who was going to run a genetic analysis of Robert's blood for nup62, a gene implicated in biotin-responsive basal ganglia disease.  We'd been told by our doctors at Kennedy Krieger to hold off on contacting her for about 2 months because her work was moving from research to clinical applications.  I wrote her early last week, and she wrote back this morning to let me know that she would be unable to help us because a lack of funding has caused them to suspend testing for nup62.  This is the only lab in the world that does that analysis.

I spent the rest of the day in a complete narcissistic fog, on the verge of some sort of mild hysteria.  How much of my life had built up to this moment--a moment of feeling that something, something was about to break open, that the vault of the oppression that's capped my family's existence for the last decade might just, might just split and rotate back and away?  Lifting us up, no doubt, toward some kind of diagnostic nirvana.  And perhaps things might revert to something like what people say when they talk casually about 'normal.'  

But it was all yanked away with that email.  Here's the grail.  Sorry.  Not for you.  

The fantasy that things might be as they were is very powerful.  A fairy tale, really.  Or the moment when the sergeant or major finally says 'at ease' after you've been standing, painfully, at attention for what feels like eternity.  For me, to think ahead is to not truly know what to look for on the horizon.  I have no idea what the future looks like, and I often don't care to entertain the possibilities.  But that things could be as they were: the plates evenly distributed at the dinner table of our lives, with the forks placed just so on the napkins, and the water glasses, waiting to be filled, in the appropriate places.  To have things in reach.  To know where they are.

That's the fantasy of diagnosis.  To convert the unknown to the known through alchemy.  To make lead into gold as the ancient alchemists promised was possible.  To bottle up the bad and screw the lid down tight.

Fortunately, Andrew is not a doctor--he's a geneticist, and that specialty offers an entirely different perspective.  The human genome is a vast forest, I think he said, or so I imagined this saying.  Unknown, uncharted territory.  The brain the organ most dependent upon the greatest number of variants, variables, and unfortunate mutations.  He looked up, without even blinking, it seemed, all of the relevant journal articles by the medical researchers who've been studying infantile bilateral striatal necrosis and biotin-responsive basal ganglia disease.  Their research has been focused on familial and co-sanguinous relationships--the deepening of the genome in populations that circle the wagons and enclose and recycle their genetic material.  These groups are the foundation of genetic research, but they represent, often, little that is applicable to a larger population--the rest of us with genetic issues, the 'sporadic' mutations and variants.  

And therein lies the problem.  Even if Robert had an implicated SLC19A3 folate transporter or an nup62 defect responsive to biotin, Robert is not a descendent of Bedouin tribesmen.  His genome is radically different.  So, as my cousin and I frequently say, this would be information to file in the 'good to know' category of our brains.  Meaning, hmmm, future reference.  Robert's genome reflects Ashkenazi Jews, French-Canadian Catholics, the British middle class of the 17th century, the Swedes, and the general roil of American intermarriage from about 1620 on.  

The implications of such a finding for his treatment would still be guesswork.  

But, O, how I longed for the label that would make sense of all of this.  Be a passport or a ticket back to whatever 'normal' is.  If normal is a state of being and not just another label people hide behind or hold up in front of themselves like a shield to hide the vast interpretive and jumbled factoids that are their actual lives and selves.  

When I taught logic and rhetoric at Columbia as a graduate student, we used to have the students play a game with the dictionary.  Pick a word and open the dictionary to its definition.  Now, pick a key word from the definition and look that up.  Keep going.  Eventually, you wind up back where you started.  Definition is circular.  Anything that pretends to be a label, to define something, as it were, is circular.  As such, the apparent absurdity of Donald Rumsfeld going on about unknown knowns and knowns that are unknown, is some funhouse mirror of what a label is to what it represents.  

I've thought, all this time, of diagnosis as a destination.  Diagnosis is not a destination.  We are already here, Andrew reminded me, here where drug therapies help Robert--and the decisions to maintain, increase, decrease, or add to these therapies in carefully controlled ways, outside the process of diagnosis, is what really, truly matters.  Diagnosis doesn't matter.

Think of the moment in the Wizard of Oz when Dorothy falls apart--she's done what she was told to do: she followed the yellow brick road, she managed to obtain, at great personal peril, the broomstick of the Wicked Witch of the West, she obtained for her friends what they needed, she changed everyone's lives.  And what she really wanted all along, was just to go home.  And Dorothy starts to cry.  And Glinda (that sweet-faced b/witch of the south) tells her, but Dorothy, it's always been in your power to go home.  Just click your heels together three times and say, there's no place like home, there's no place like home, there's no place like home.


Daisy said...

I'm sorry. Even if diagnosis doesn't matter. But I'm glad you have a friend like Andrew.

Elizabeth said...

This post is so full -- of heart and of heartache. I'm sorry to hear of the mis/ or non diagnosis -- it's more than frustrating and weirdly unbearable, right? I wish you peace.

Leah said...

Thank goodness for geneticist and other friends.
It's okay for it to hurt.

jeneva said...

Thanks for the kind words, everyone. I'm feeling better--kind of back to that place I was when Robert first crashed. It's strange, but I've always felt comfortable with the fact that there was no diagnosis. It was clear that something was terribly wrong, and everything they tested for was so awful that when the test would come back negative or normal, it was a huge relief. The lack of diagnosis has proved troublesome with some aspects of his education in particular, but, on the whole, no one's been able to pigeon-hole him. And I think he's as far along as he is--in school, happy, being treated as normally as possible--because no one could ever label or limit him.

Maggie May said...

I can only reach to imagine what you are going through without answers. It is human nature to hope, and to desire labels- words- as poets, we understand the power of that better than most. I admire your poetry and your mothering spirit. I will be a regular here. Glad to 'meet you.'

have you read Strange Son? it's about autism- totally different- but what made me think of it is that the mother of the boy in the memoir spends her life searching for help (a cure?) for him, and she does- she does!- find a MAJOR breakthrough toward the end of the book, in a climax so heartwrenching I sobbed.

Elizabeth said...

jeneva -- i posted about your literarymama poem on my blog -- i hope you don't mind...

Leightongirl said...

I know this might sound odd, but what this post does is fill me with love for you--the you who can wrap a metaphor inside an image inside a metaphor, who can help us feel in our hearts the power and impossibility of language, and who is, most of all, a beautiful mother to her son.

That all being said, I am so sorry the brass ring has slipped from your grasp.