It is either tragically funny or devastatingly sad that while a genetic counselor explained the random lunacy of my son’s deadly disease to me all I could think of was how our current situation bears an uncanny resemblance to the plot of Rumpelstiltskin.
I made the mistake of telling our genetic counselor as much.
“Sorry, are you saying you sold your son’s soul to a troll?”
ADVERTISEMENT
“I mean, maybe? That almost makes more sense to me than genetic mutations.”
“In this scenario, who’s the troll?”
She got me there. I could spend ages trying to pinpoint a culprit. Ever since my son’s diagnosis with the brutal disease adrenoleukodystrophy (ALD) four months ago, I’ve found myself jolted awake at 2 a.m. every day, as if by some internal command to investigate our current woes. The “investigation” involves staring at the ceiling and scouring the cluttered compartments of my mind in search of a spontaneous revelation regarding exactly when, and exactly why, doom entered our lives.
Maybe I shouldn’t have dismissed that Roma woman who put a curse on me 15 years ago in a Moscow underpass when I had no money to give her sick baby. Maybe her confusing hand gestures really did guarantee “great suffering” for my future bloodline. Maybe that goth girl at the mall who waved around a kitchen knife and promised “big problems” to a teenage me was legit and her Hot Topic attire was all part of an elaborate head fake. Come to think of it, perhaps that unhinged squeegee man I so quickly shooed away with threats of pepper spray had hidden supernatural talents. Ditto for the literal trolls who used to email me regularly over my journalistic work to make bitterly jubilant proclamations like “I hope you get raped” or “I hope your kids get cancer.”
But no, the genetic counselor assures me we are not dealing with a curse. Though the reality is equally disconcerting: Apparently you can go almost an entire lifetime thinking you’re relatively normal, just like other human beings, and then bam, you learn you’re a mutant. Not even a cool kind of mutant à la the X-Men, but a stupid one with an invisible mutation that serves no purpose except to kill little boys.
“Where did the genetic mutation come from? When did it enter my life?” I ask the geneticist, conscious of the fact that many families dealing with ALD have watched it ravage entire generations as the genetic mutation is inherited again and again.
In my case, I have no one to blame, because it started with me. My mutation–the mutation that might kill my child–is de novo, the first of its kind. The variant has never before been reported, and my son and I now namelessly occupy our own row in a national database of ALD mutations. (We are not special; there are thousands.)
“It’s most likely been there since you were a very young age,” the geneticist says.
“Was it inherited?”
“We don’t think so.”
“So from when I was a child?”
“Most likely from when you were still a baby.”
“What caused it? Are there certain factors that cause it?”
“Nope. Think of it as a typo. When your cells were replicating, this particular gene got a T instead of a G.”
“And that’s it? 39 years later it rears its ugly head to potentially claim the life of my firstborn child?”
“Unfortunately, yes.”
See? A bloodthirsty troll really does make more sense. Or at least as much sense as nature randomly trying to snuff out my bloodline. But I am told not to take it too personally. Every single person brings new genetic mutations to their generation–dozens of them, according to current estimates. We’re all mutants. It’s just that the mutations are usually harmless. And they’re always pointless, even the deadly ones.
Strangely, my 8-year-old son has yet to ask why he was born with this lethal spelling error. He seems oddly used to the reality of what he calls “cancer kids” and very nonchalantly puts himself in the same category, even though his disease is a different kind of monster.
“I have to get a bone marrow transplant,” he tells his gaming friends, as if bored by his new status in life. He doesn’t want to be a downer, so he doesn’t tell them that the transplant is the only way to slow or stop the progression of cerebral ALD; once it begins, it mercilessly devours the brain, squeezing the life out bit by bit.
I have exactly seven days left with my son before he checks into a hospital room that he may never walk out of again. And I wish his fate were in the hands of an evil troll rather than probability and chance. I’d have more luck with a Rumpelstiltskin; I could find some kind of sense even in a dark psyche.
Not so with nature and genetics. With “probably” and “maybe” and “we won’t know until we know.” The doctors tell me the scariest complications of a bone marrow transplant are rare for a boy like my son who is healthy apart from his genetic disease. Veno-occlusive disease and kidney injury and failure to engraft and endless horrors and breakdowns of the human body. Both slow and fast, all painful.
“There’s always about a 10 percent chance of death during transplant,” one doctor tells me.
It’s not a comforting statistic for the mother of a child with an incredibly rare condition. The chance of him developing the disease to begin with was 0.0048 percent. And yet here we are.
The odds are not on our side and neither is nature. We’ve spent weeks packing bags and making plans for my son’s post-transplant recovery, but the realist in me knows damn well it’s all just an exercise. That there might not be an after.
There’s a chance he’ll be okay, a success story, a smiling third grader met with cheers as he returns to school a year from now. And there’s a chance he’ll never know normal again. That these next seven days will be the last time he gets to jump in his bed and leap wildly from his dresser in pursuit of adrenaline and stars. That all things will end suddenly after one final burst of beeping from the machines and one last drip of morphine to quiet the dread.
And if that happens, we will not defy the odds but abolish them. There will be no explanation and no making sense and scientists will have no time to come up with percentages and probabilities because the Earth will split wide open and swallow me whole and I will let it.
