Monday, September 24, 2012

Let's start, or not start, with an announcement

Robert at Gettysburg
At Arlington National Cemetery, the rows of graves with uniform headstones, all in precise lines, align and realign themselves, moving within your peripheral vision as you walk by. An odd dynamic in what is otherwise a static place: the last resting spot for over 400,000 soldiers, politicians, and other dignitaries. Each small white stone forms a mark on green grass, each so many feet or inches separated from the one to its left, right, front, back. The geometry creates an optical illusion for pedestrians, the headstones breaking in waves, lines at parallel and diagonal, patterns shifting. Each person buried here connects, one to the other.

Edith and I visited the cemetery after returning my rental car at National Airport, just a few metro stops back along the Potomac. Edith claims she's never been, but I don't know--I may have pushed her stroller under those trees, along these paths at some point in the past. I try to go periodically, I wish I could say to honor the dead (although honor them I do), but what I want from Arlington is the view from the Custis-Lee mansion on the promontory above the river.

We walked (and you walk in Arlington, you really do, over 624 acres) on roads that connect the clusters of plots to the eternal flame that marks the resting spot of JFK. Just a hundred vertical yards or so below the mansion's portico. Along the wall of a sweeping granite plaza are inscribed a cluster of quotations, mostly from the President's sole inaugural address, culminating, of course, in the famous "ask not what your country can do for you, ask what you can do for your country," but before that rhetorical note sounds, another chimes in: "now the trumpet summons us again, not as a call to bear arms--though embattled we are--but a call to bear the burden of a long twilight struggle, a struggle to bear arms against the common enemies of man: Tyranny, Poverty, Disease, and War itself."

That last was the resonant rhetorical ping! of the day, it being Rosh Hashanah and all. The trumpet, the ram's horn. From the church militant to the church triumphant, as the minister said of those who had died in the congregation of my childhood. The call to arms. Lying back in the arms of the fathers. All of this diction mixed in the back of my head. Disease and a long twilight struggle.

We clambered (believe me, the appropriate term) up the long concrete slabs that made steps for giants up the steep hillside, under the trees, past row after row of modest white headstones dotted into infinity, to the broad front porch of Arlington House. From Arlington House, you can see the entire city of Washington DC receding into the distance on the far shore of the Potomac. The city itself laid out along a grid equally as unforgiving as the geometry of Arlington.

No more than the city can be captured in one sweep of the eye, the plots at Arlington on the hundreds of acres can't all be seen at once--and there are only upwards of 400,000. If you go to Arlington, that number will seem immense and unimaginable and your throat may constrict as you consider the toll of war. That would be an understandable human reaction.

There are 3 billion nucleotides on each strand of human DNA. So many nucleotides form a gene, so many genes dot a chromosome, and we all have two chromosomes to prevent genetic disaster, or at least stave it off. On one of his chromosome 2 copies, Robert inherited a defect from me on the PRKRA gene. One nucleotide switched out for the wrong one that encodes for the wrong amino acid and makes the wrong protein. On the other copy of chromosome 2, Robert has a de novo defect on PRKRA--one nucleotide switched out for another, but in a different place than the coding error I gave him. Most likely, our geneticist said, the de novo variant was the result of a gamete transcription error and that gamete from my husband was the one that just happened to unite with my ovum. A one in 3 billion chance happening.

Disease resulting from errors to this gene is currently called dystonia 16, a gradually progressive illness, of which Robert is the 9th reported case in the world, the first in the U.S. Robert's symptoms, most likely because of the de novo variant, are worse than any of the other 8 reported cases.

On August 3, a Friday, I was driving in Vermont on my way back to my parents' summer house, when Edith insisted we stop for creemees, and a good thing we did or I wouldn't have answered my phone when it rang and the results of Robert's genome sequencing would have had to wait until Monday.

While I'd been waiting--since January--for these results, I wondered what it would feel like or how I would react when the news came. I imagined myself going weak in the knees and crying, because, really, that's all anyone could imagine. Of course, that's not how it went down. I was elated. I was grateful to Rare Genomics Institute, to Jimmy Lin, to all the donors I know and don't know who made the sequencing possible. All of this has been a gift, to finally know, if not what we're dealing with, then a map of the terrain.

This elation continued through my 30th high school reunion--that night after hearing the preliminaries on a cell phone at a creemee stand in the Champlain Islands, I had dinner on a promontory looking over Lake Champlain with several of my closest girlfriends from high school. A harvest moon came out, large and golden-orange trailing down the lake surface, as we sat in Adirondack chairs, all in a row--and Cheryl asked if we should climb the ladder down the cliff to swim and Catherine said it was not recommended after a few glasses of wine. Let's not start the reunion tomorrow with the announcement of an accident. By then, of course, I'd told my friends about what we'd found, I'd told them at the beginning at the blue picnic table and we'd talked about it all evening, and all of us were happy with wine and water and the harvest moon.

All of it, for three weeks, was a festival. We were on vacation. We were traveling. We were talking to old friends and to relatives and it was Big News.

But receiving the news, the announcement, is different than taking it to heart. We drove back to DC, down the long change in elevation from the old glacial lake and back to sea level. And I woke up, finally at home after 3 weeks, in the middle of the night. Maybe it was raining, maybe it wasn't. But I woke up in a state of shock--maybe I'd been dreaming, maybe I hadn't--and in an awful cliche, not my entire life, but images and snippets of the last 14 years were flashing through my mind and I couldn't make them stop--Robert at the table at our old house, now at our new one, images of the school bus, holidays, trips, hospitalizations, all of it. In each image, the disease had marked him in some different way. That seemed to be the point of the slide show projected on the frontal lobe of my brain: each point at which he looked different, slightly different than before, connected to every last one of them. Like the blue screen on a computer after the device warns you in tight white type that a complete data dump has begun and then the number of bytes scrolls by rapid-fire, faster than your brain can even read--that's what it was like. Recovery error. Or a twilight sleep. Without giving it any thought, I found myself lying face-down on the carpet of my home office and sobbing.

Since then, all of us have been relieved, but exhausted and a little fragile.

Arlington House, or the land around it, was seized by President Lincoln during the Civil War. General Robert E. Lee was the current owner of the property, and Lincoln wanted the war dead buried in Lee's front yard. For the rest of his life, Lee would have to look out over the dead from a war that administration felt he could have prevented. Standing on the portico at Arlington House, in the distance across the river, Arlington Memorial Bridge makes a sight line directly to the Lincoln Memorial. A grudge.

Robert was conceived on the first evening of Rosh Hashanah, which represents the beginning of the world. It was also Friday the 13th. For years, I convinced myself that conception must have happened in the wee hours of the 14th. Because, otherwise, I would have to believe in superstitions I never held to begin with. In cliches or something approximating them, like a reminder that even in the beautiful garden of your dreams, the one overlooking the river, a serpent can slip in.

And then you awake to find someone has planted row after row of white headstones in your front yard, each of them so many feet apart to the right, to the left, back and in front.

Edith asked me why the stones were all the same. I told her it symbolizes all of us equal in death.

Opposites are supposed to attract, but patterning comes from the recognition of likeness and this searching for equanimity makes lovely and serene what otherwise would be fearful:

The Energy - the Faith - the Devotion
Which we bring to this endeavor
Will light our country
And all who serve it
And the glow from that fire
Can truly light the world

Sometimes the white stones seem to glow against the green. What I can say is that we asked to look down into the patterns of the genome, the ACGT invisible to us, trying to find the one letter in tight white type out of place. 

How one reacts to a discovery of that impossibly small magnitude is debatable, one of any understandable human reactions. It's a matter of interpretation. Maybe love can be so strong that the making of a single person from two bends the laws of biochemistry such that like must have like, even to the last detail. Or maybe it's just a coincidence.

What I can say or will be able to, or, really just want to say is that, in the end (and at the beginning and in the present), we served our child with faith and energy and devotion.


Sara said...

Oh Jeneva. I'm so glad there are answers, and wish fervently that there is also some kind of path that comes from them.

My own Bird was born on a Friday the 13th. And you know what? I think that date brings with it grace. A kind of slant grace, but grace all the same.

This, as always, is beautiful and brilliant. As are you.

Robin said...

Reading this from Binders with tears in my eyes: truly one of the finest blog posts I have ever read.

From a total stranger you have touched, deeply.

Jeneva Stone said...

Thanks, Robin--this day was two years ago, and it still feels like yesterday to me.