What Genes Can’t Tell Us “Who Else Has a Son Like Mine?” A Mother Searches for Other Parents Who Lack Medical Answers
How many days had we spent asking the same questions of God or doctors? How long had we wrestled with conditions that didn’t yet exist?
This is What Genes Can’t Tell Us, a monthly column by Taylor Harris on parenting, genetics, and the quest for answers to medical riddles.
Sometimes when I’m reading to my seven-year-old daughter, she’ll suck in a big breath, seal her lips, and begin moving her right hand, fixed in a Y-shape, back and forth between us. Her hazel eyes will grow; her chest will puff out. It would be torture to make her wait, so I usually stop to acknowledge the sign her first-grade teacher taught her.
“Me, too! Me, too!” she’ll say. “I have a connection.”
Her connections, at times, can be a bit of a reach: Did you really lead a group of slaves to freedom by reading the stars, or are you just a Black person who likes the sky? Though I’m not sure what’s more tender—the times when she recognizes an experience or emotion she’s truly had, or the times when, longing to find herself in a story, she slackens her hold on memory, allows it to kiss her imagination, and creates a new thing neither of us can recognize. She’s learning, even through moments of over- and under-connection with characters, to discover her space and shape in the world. She’s feeling out what matters to her.
In her viral TED talk on vulnerability, researcher and storyteller Brené Brown says we are hard-wired for connection: “Connection is why we’re here. It’s what gives purpose and meaning to our lives.” That rings true to me, especially when I consider life as my son’s mother. It explains the deep pain I’ve felt about his challenges, even though he’s not sickly and is learning to read. It explains why, in those early days of knowing something was different about Tophs, I searched online for a diagnosis.
I can still taste the security of that mother’s belief, though by now it feels like she lived a lifetime ago. I really thought if I could crack the code, we could access the right medicine or therapy, and then I could reach the center of my son. Other little bodies like his were out there; they had to be. We just had to find them.
Back then I’d start by Googling a mix of his symptoms—hypoglycemia, short stature, carnitine deficiency, developmental delay—and then click on the most official-looking results. (Message boards could be suspect. Anything from the National Institutes of Health was golden.) When, as a toddler, Tophs went through a phase of waking up at 3:00 a.m., hitting his head during tantrums, and quickly flipping through pages of books when I tried to read to him, I thought he might have Smith-Magenis syndrome . As someone with a history of anxiety, I didn’t want to be that parent grasping at rare syndromes when really my kid just needed melatonin gummies and a hug. But I told his pediatrician anyway.
“I can tell you he definitely doesn’t have Smith-Magenis,” she said. “I have a patient with that now. There are a lot of markers [Tophs] just doesn’t have.”
Was that the first time I felt the strange mix of relief, guilt, and hunger? Tophs didn’t have it, but someone’s baby did, and what did my son have?
Many months later, we still had no answers.
Beneath my longing for a medical answer another desire was emerging: To find someone “out there,” anyone, who could relate. When I discovered Russell-Silver syndrome , the world almost seemed to slow down as I read through the symptoms: hypoglycemia, normal head growth, short stature, possible delays. How had I missed this?! I got to work taking pictures of my son’s hands and his head and face at various angles. Then I dug up his birth measurements and sent it all to the MAGIC Foundation, an organization that supports families of children with growth disorders. Jennifer, the director of the RSS Research and Education Fund at MAGIC, would review Tophs’s information, and, using a scoring system, determine the likelihood that he had the syndrome.
While I awaited the assessment, I joined a Facebook group for parents of children with Russell-Silver syndrome. I read their posts and submitted a few questions of my own. I learned about growth hormone shots, an upcoming convention near Chicago, and wetsuits that could keep Tophs from shivering in pools or under sprinklers in the summer. Moms vented about trying to fit twelve-month-sized shirts on a kid who had the head of a three-year-old . Finally! These were my people.
And then Jennifer emailed with the results. We could get genetic testing, she wrote, but the initial assessment indicated that Tophs “would be statistically unlikely to test positive for RSS or be diagnosed clinically.” Out of six factors considered, she found one, possibly two that applied to Tophs. I knew I should be grateful, thankful again for what he didn’t have, and yet disappointment set in.
That’s when I realized how deeply I had been searching for more than a label to bridge the disconnect I felt. I had been searching for others like us. Perhaps, longing to see myself in the story, hungry to find a place for my family to belong, I had tried to force a connection that couldn’t last—that might not even exist.
As a year and then another year passed, I began to understand that we might never get a diagnosis for Tophs. But my desire for likeness hasn’t died out, even though my Google searches have. The question I wanted to ask every doctor or teacher or therapist changed from “What does he have?” to “Who else has a son like mine?”
In Brené Brown’s words, “empathy fuels connection.” I once listened to her explain how a white person who had never experienced racism could empathize with a member of Black Lives Matter. “Empathy is not about shared experience,” she told 1A’s Joshua Johnson. “It’s about shared emotion . . . because when someone shares something with us that’s difficult, our job is not to try to reflect that experience from our past.” Here she was, this white Texan who believes in responsible gun ownership rights, reaching into my life with an offering. Her words made sense to me: My white friends and allies couldn’t offer me their experiences in conversations about racism, but perhaps they could sit in a dark space with me and share in the rage or despair or fear.
But I had one lingering question, because when I find something that seems true, I tend to work it over in my mind and test it out in several areas of my life. Naturally, I wanted to apply Brown’s words to mothering Tophs. Was there something to be said for the way I’ve desired likeness, not just empathy?
I have genuine, empathetic friends who have quietly walked alongside me through the unknown of Tophs’s medical and developmental challenges. They are faithful, and I wouldn’t trade them (I only wish they all lived closer to me). Their empathy absolutely fuels our connection, offering me strength and joy. So why, for so long, have I wanted more?
I imagine her sometimes, this other mother, a person without a clear shape or features, without race or accent, but with a tongue whose parenting language is also the unknown. Her brain, like mine, swirls with questions, working overtime at night while others sleep, as she creates a mental Venn diagram of Test Results and Progress and Heartbreak. I think about her so often. Even with a great spouse, or great friends, or a great God, does she, too, sometimes feel lonely in her wondering?
I stood in the corner of a black-tie dinner party at Monticello, a place I’d never cared to visit, because, you know, famous white men and their ideas about freedom. But I’d been invited by a group of University of Virginia students and alumni, some of whom I love, so I shed the mom ballet flats for heels and ripped jeans for a Great Gatsby -style dress with sequins. Even in my formal wear, I drank a plain Coke.
And so did she. I knew her as the mom of one of Tophs’s friends and classmates. I’d spent a few days in Tophs’s class as he transitioned from a private preschool to a special education class in a public school. I remembered her son as the sweet blond-haired boy whose love for school buses and the pretty school librarian could not be contested. He was also fond of Tophs, and the two played well together and sometimes asked about each other on weekends or breaks from school.
I didn’t know Elizabeth, his mom, all that well, but we didn’t make small talk for long; our conversation moved quickly toward our sons. At some point, I shared that after years of testing, we still didn’t have a diagnosis for Tophs. “We don’t, either,” Elizabeth said.
Me too, me too. I have a connection.
The faces of Tophs’s classmates ran through my mind. I had never even considered the possibility that any of them might be undiagnosed. Elizabeth’s son had seen one of the same doctors as Tophs and also undergone genetic testing, and no one could find a way to link his symptoms together. She wasn’t certain if or when they would look into further testing, or what the next five or twenty-five years would look like, and I was stunned that as she talked, bits of my life unfolded from her lips. All the while, she had been right here; our kids had been in the same school.
It’s hard to admit just how relieved I felt after hearing she’d walked this painful path, too. How many days had we spent asking the same questions of God or doctors or no one in particular? How many times had we asked our spouses if they noticed what we noticed about our sons? How long had we wrestled with conditions that, in the literature, didn’t yet exist?
Our sons were not the same, of course; our journeys not in perfect parallel. Likeness, too, has its limits. As Elizabeth described appointments with specialists in departments Tophs had never seen, I relied on empathy. Perhaps that empathy was easier for me to convey and receive because I didn’t have to dig too deeply. Her emotions were my emotions because I’m human, but her emotions were also my emotions because I’m Tophs’s mom.
The world did stop for half an hour that night, even as people around us ordered drinks and ate small plates of food. Everything else—the dinner, the toasts, the music—could wait. Elizabeth and I stood in the corner, listening and talking and drinking our Cokes, her words and her presence finally giving shape and form to the person I’d been searching for, whose voice sounded like a true-north echo of my own.