At the beginning of this, I thought there would be a test. Medicine, it seemed to me, was a matter of lining up correlatives in a biological dance. This finding from a blood culture partners with this illness, this urinalysis pairs off with that syndrome, and this MRI finding links arms with one or two disease spectrums. You take a test, you know what you have. Treatments, care protocols, and the like follow logically, like offspring.
Instead, I have been met with the mincing side-step of hypothesis. Hypothesis is never really there when you need him--when you call, hypothesis' roommate (doubt) always informs you that you have just missed him, already down the stairs and onto the street, on his way to another party. Hypothesis does not carry a cell phone. And when he does show up, hypothesis never has much to say about where he's been, offering vague excuses about late nights and a fuzzy memory.
Yes. I thought there would be a test. Even after enduring years of testing, afraid to pick up the phone at times, as though that could ward off bad news, I still held out hope for a test and a result. This had the curious emotional effect in us of correlating negative results with the sense that Robert had "passed" a test--a cause for celebration. And we did celebrate, for years, the utter inability of the medical establishment to pin what seemed like negative labels to his chest.
Each of these diagnoses, the ones with the shadow set of negative outcomes, implied a set of developmental limitations. And we had decided (well, just because we had) that if no one could prove limitations, could draw them with indelible magic marker around Robert's person (instead of sketching them with pencil) that we would live our lives as though limitations themselves were merely hypothesis.
Denial? Acceptance? I've never met them, though I hear of them through friends--acceptance with its dour, puritanical face, and denial with its manic cheer. Once you let them borrow a cup of sugar, they're back in a day or two for an egg, then a postage stamp, and, finally, they just start asking for money. And before you know it, they're part of your daily life.
To put a finer point on it, I've never been concerned with denial or acceptance because I travel daily to a land in which there are no knowns. Each of them draws insistence from something known, permanent, insurmountable. This is not a land in which nothing is real, but one in which there are no knowns. Here, in the world of Robert's medical condition, we see symptoms that manifest as shapes, but the shapes are not recognizable. It's the act of seeing without the interpretive action of the cerebrum.
As I told my family earlier today, we're on the Starship Enterprise, boldly going where no man has gone before. I just hope James T. Kirk isn't at the helm because, just between you and me, I don't trust his judgement.
We've finished the bulk of testing through the Cleveland Clinic, and I'm afraid, once again, there are no answers. Or at least no answers the way tests have answers. Nothing reductive.
I spent some time leafing through the various mailings we received with the results of these extremely expensive, complicated tests. Unlike the reams of white paper printed with black letters and symbols that comprise the pieces of Robert's chart I've amassed over time--these with their simple 'no's--the paperwork from these most recent labs has, well, something like caveats. There is, for example, the unknown variant, 380 G>A, which Robert and I share, which is probably non-pathogenic. Then there are a raft of 'common' polymorphisms in the mtDNA, arrayed in a simple chart with lines and a border. And in the results of the POLG1, SURF1 and SCO2, polymorphisms and SNPs (single-nucleotide polymorphisms abound, each with a non-vocalic string of letters, numbers and punctuation: C.280T>C, rs28615629, P.Ser194Ser, and so on. But, as the explicative text informs me, no mutations, no point mutations, no small or large deletions or insertions. Those are the big game.
I know that these polymorphisms and SNPs do not necessarily signify anything. They are little shortcuts and side alleys of Robert's genetic code. A manifestation of his individuality. But they are expressions. Of something. This odd language must mean something. For the first time, I want it to mean something.
But I don't understand this language, and perhaps no one really does. These strings of symbols are markers and in what rubric do they make sense? Inconceivable that it means nothing. Words mean little, being flat representations of things and concepts, until strung together to form phrases, clauses, sentences, or just set side by side to spark association.
If I had access to someone who could interpret this for me, I think he or she would say that the complexities of this DNA language, its implications, are not fully known--SNPs have the capacity to express disease, and the sum total of this genetic speech is though to hold the key to who were are, from where we've come, and to where we're headed. So, if I could read this, I would know. And I wonder if it's similar to what I try to speak on this blog, when I sit here, stuck for the next word, my mind attempting to bridge something I sense, but don't understand with something others can see.
I am on the outside of language, looking in. I've known this for a while, as I've struggled to match what I feel or observe about Robert with metaphor, image, idiom. And I sit sometimes, in this wordless realm, wishing I had an alternate language I could write in.
Here, at last, is a representation of Robert in an official language. The kid who lacks speech is, in the end, an expression of genetic code.
[Readers: thanks to all of you for your comments and support. If you have any interest, I've recently begun publishing essays about my attempts to understand Robert and what has happened to my family. The first is up at The Collagist now.]