Why We Brought Our Son to the Pediatric Geneticist

This is What Genes Can’t Tell Us, a new column by Taylor Harris on parenting, genetics, and the quest for answers to medical riddles.

I stand, holding him in a pool. His knees are bent toward his slick, brown chest in a frog pose, his feet resting against my belly, as though he could push off and slip into backstroke. For a reason I can’t know, I look away. I get distracted, turn my gaze. Then, he’s there, sitting alone at the bottom. He’s alive; he hasn’t drowned. Is he smiling, or are his lips only parted? He’s okay, it seems, but who can forget that I let my son go?

This dream does not recur, at least not as a dream. The quick-moving frames—flashes of what seems like real life, what feels like tragedy scarcely avoided—have unfolded just once in my sleep. Since then, moments appearing as still shots—a mother with long, dark hair; a cross-legged boy under water—have captured my mind during the day, inviting me to assign meaning to the dream. To give its airy form depth.

Guilt. Maybe this dream is about a mother’s guilt. What did I do—or not do—to cause my son’s delays, his hypoglycemia, and failure to thrive?

Maybe, I’ve thought, it was the missed feeding in the hospital before his circumcision. I’d slept so long that night, and the doctor whisked him away before I could hold his loose lips, which never did latch properly, to my breast. They gave him sugar water after the procedure, and he slept and slept.

Twenty-two months later, we would rush him to the hospital for more sugar water, this time injected into his veins.

What if my dream is just about the boy? About this gorgeous boy sitting, wide eyes open, underwater; not flailing, not drowning, just being? If that is true, then who is this boy, and what does he need? Imagine—maybe his mother never dropped him at all. Maybe, one way or another, he always would have wound up sitting on the smooth bottom, looking straight ahead.

What if he had always been there?

*

At five years and five months, my son looks like he’s three. He’s skinny but well-proportioned and has a certain swag, even with a front tooth missing. Or maybe it’s because of the lost tooth, paired with his left dimple and long lashes. You’ll often find him in his skinny Gap jeans, distressed at the knees by him—not by a stylist—a soft T-shirt, and Velcro sneakers. On most days, he’ll give you a fist bump. (He thinks it’s hilarious to offer you a high five if you ask for a bump, and a bump if you ask for five.) If you play Common and John Legend’s “Glory,” he might break into contemporary dance, his pants revealing a plumber’s butt as he bends low and moves like he’s lifting heavy air with his arms. If you play his favorite Christian hip-hop artist, Cass, he will perform a combination of isolation dance moves and dabs.

Even if he’s forever in need of a shape-up, the boy is smooth. You’ll leave him feeling like you’ve met somebody. You have. You’ve met my son, the boy we call “Tophs.”

Kids are all mystery, and mine are no different, but the unknown has especially marked my son. From his lower birth weight to the way his body can’t tolerate heat or cold to the way he didn’t express basic feelings, like hunger or thirst, as a preschooler. It’s because of him that I’ve Googled the terms “carnitine deficiency” and “Russell-Silver syndrome” and “motor planning.” He’s why I know AST stands for the enzyme aspartate transaminase.

But what’s most confusing about Tophs is that you have to look closely. It often takes two or three or four looks before you realize he’s wired a little differently. As a parent, on the best days, I’m tempted to declare I’ve made it all up. Then, inevitably, there’s a blip on the radar, and I have to remind myself that I’m not in the business of fabricating nuance.

My boy is who he is.

*

It’s true, as the dream suggests, that sometimes I believe I’m at fault for at least one of the current conditions listed in his medical records: short stature; poor weight gain; hypoglycemia; elevated AST; developmental delay. It’s not clear how I might have caused any of those. I envision a therapist thrusting an “irrational thought” yellow card into the air and warning me to redirect my thoughts. I do, eventually, redirect.

At one point, I thought genetic tests could sever the rope from around my waist, let me walk free from the load I’d dragged behind me. If the doctors found mutations in Tophs’s genes, we’d be forced to look back to conception, even pre-conception, even to God, who is way bigger than any mistake I might have made as his mother. If these problems were there in the beginning, then I’d be free to respond, rather than atone.

But that’s not why my husband, Paul, and I stepped into the pediatric geneticist’s office two years ago with Tophs. On the simplest level, we wanted answers. The developmental pediatrician, who had told us, “He’s got something; we’re just not smart enough to figure out what it is yet,” recommended Tophs get the highest level of genetic testing available. The geneticist was next up to bat.

It never occurred to me that, after waiting months to see the developmental pediatrician, we could leave his office without a diagnosis. We did, though—just as we had left the gastroenterologist’s and endocrinologist’s, as well as the first geneticist’s office after our son’s carnitine levels inexplicably dropped.

We followed the path of referrals and showed up to appointments, because that’s how the system works, but what we really wanted was more than we could explain on any intake form. We wanted to understand just who our boy was. Not whether he’d grow up to be a firefighter or a dancer or a prophet—though we did wonder about his future—but how we could best find him inside that little body. How we could know him, and him, us. That might sound spiritual or emotional or sappy, but it was actually quite physical and measured. Tophs’s lack of growth, his drops in blood sugar, his delayed speech—they weren’t disconnected from the boy behind those wide, brown eyes.

My chief concern as his mother was this sense that I couldn’t consistently get through to him—as though he was a place, and I was an eager but frustrated traveler who might never reach it. We hoped that by sending off his DNA, we’d be able to map him out, to discover what made him slow to respond to pain or his name. To know why he could eat ice cream and pizza before bed and still have dangerously low glucose levels by morning.

We came to the geneticist’s office looking for the very boy we’d brought with us.

*

Shelley, tall with an Elsa-like braid that hung over her shoulder, greeted us and sat down at the computer. Her eyes were Disney-clear blue and direct, but not unkind. I resisted her at first. She was young and engaging, but she wasn’t the geneticist. And the only thing worse than not knowing how to tell your son’s story—how to relay the scope of puzzling issues without getting lost in details—is muddling through that story twice in one appointment.

But Shelley wasn’t a resident or medical school student; she was a genetic counselor, guiding families, by way of Punnett squares and lab orders and test results, through what genetics had to say to them. In this way, she wasn’t entirely unlike a pastor, consulting her source and caring for whoever walked through her doors, no matter the circumstance.

“Is there any chance you two are related?” she asked Paul and me.

“Uhhh, we don’t think so?”

There’s this funny thing between Black people, because most of us came over on somebody’s ship, and we share aunties and cousins who really are fictive kin, so while it’s probably safe to say “no,” it’s hard to definitively answer this question. We laughed a little, and Shelley’s apology helped us relax. “We have to ask that,” she said.

It strikes me now that the question Shelley really asked us was: “Are the odds stacked against your child?” Beneath that question, there lurks another I frequently ask myself: What were my expectations—of my child and his body, of myself and my body? Had I expected easiness, perfection even? And what about the man I married—did I expect him to be free of misspelled genes?

Perhaps this is really why Shelley apologized to us. Not because we think of incest as some ancient or backwoods practice, but because what she’ll have to do next is harder than addressing such a taboo subject. She will send away our samples, which will be interrogated for brokenness. If something’s awry in our son, the science will first look to us, his parents. And if that same thing is awry in one of us, we will be left to add a second layer of interpretation, one Shelley can’t help us with. One that begs us to parse guilt from faith, and science from predestination, and what we can know from what we can’t.

Here is your boy, the results will say.

We’ve mapped out his genes.

And here you are, Mom.

Did you play a part?

Can you see him

c l e a r l y

now?

• 0