My father-in-law, a pastor for 38 years, says the smartest words he offers his church members are often, “I don’t know.” I think of these words now as a pronouncement over my son’s life, wrapped around his tiny ankle at birth, as important as his name or medical record number: Baby Boy Harris. Five pounds, 15.5 ounces. Level of unknown: High.
My son, Tophs, now three, was 22 months old when he first turned heads – by sleeping. He’d slept later than usual one morning and hadn’t cried or called for me from his crib. His heart seemed to be pounding through his chest, and when he did wake up for a few minutes, he only drank water and refused any breakfast. When I laid him on the living room floor to change his diaper and he remained asleep, I knew it was time to call the doctor.
An hour later, a pediatrician checked his eyes and stomach, noted his increased heart rate, and asked if there was any way he might have swallowed pills or poison.
My husband Paul and I had taken Tophs to the doctor for all his well-baby visits and weight checks. Tophs’ regular pediatrician had carefully noted his slow growth and encouraged us to feed him more avocados and butter, but we never felt alarmed. After all, we joked, he had the head circumference of an astronaut. This appointment was different, though – no small talk or smiles, the doctor’s face a steady portrait of concern. When the nurse drew his blood, Tophs sat, shoulders hunched, and stared straight ahead. Not even a whimper. Later, she’d tell me how much his silence scared her.
At home, Tophs lay in heavy slumber again, the back of his neck in the crook of my elbow, when the pediatrician called.
“Mrs. Harris, we got your son’s blood work back, and the results are concerning. I’m not even sure they’re accurate. I want you to take him to the ER now.”
She had also called Paul at work, and he was running up the ramp towards our apartment when I stepped outside with Tophs and our three-year-old daughter, Elie. We drove just five minutes to the University of Virginia Medical Center in Charlottesville and found medical staff waiting for us at the front.
Three or four people moved around the partitioned room, ready to work on my son. With my pint-sized toddler sitting in an enormous white bed, they looked more like a football team running plays. Poke a finger here, run an IV route there.
“Why isn’t he seizing?” someone called out.
I still didn’t know why we were there, except that Tophs had been lethargic all day. Soon we learned his blood glucose level had been 27 at the doctor’s office that morning – a low normal is seventy.
We walked the hospital staff through what Tophs had eaten the previous night – pizza and ice cream – and how we didn’t think he’d swallowed Tylenol or Windex and how I’d fed him half a Starbucks morning bun after his doctor appointment. At this last fact, the doctor in the room exclaimed, “Good mommy!” and I felt absurdly spectacular, as though I’d won a prize, redeemed from the sin of harming my son.
As Tophs, dextrose running through his veins, devoured an ice pop and perked up, the staff seemed encouraged. He would stay overnight for more tests but the crisis, at least, had ended.
Upon discharge the next day, the doctors didn’t quite say, “We don’t know.” If they had, I’d probably have labeled them incompetent. Instead, a nervous medical student with red hair shakily read her notes aloud to the team, and I felt more anxious for her than for my son. She said Tophs probably experienced ketotic hypoglycemia, a recurring condition in which a person’s blood sugar drops after a period of fasting or illness. It’s a diagnosis by exclusion, a bit like solving a case in the game Clue. A urine sample is usually a key piece of evidence, but someone had thrown Tophs’ away. So the doctors told us he should never miss a meal and always eat a bedtime snack high in protein and carbohydrates. He’d probably outgrow the episodes by eight or nine years old.
A few weeks later, after we’d settled into a bedtime snack routine and felt confident that we had a relatively normal, very short boy, who was just slow to gain weight and couldn’t go to the beach without becoming flushed and lethargic, his pediatrician called. I expected her to tell me those extra labs the hospital sent off to the Mayo Clinic “just to be safe” had all come back fine. As much as my anxiety makes me prone to think the worst, I actually spend a lot of time thinking things will be okay.
Instead, she told me Tophs was carnitine deficient. She would consult with the chief geneticist, and I should not Google it. I did.
Carnitine helps our bodies produce energy from fat, and the Internet says that every person with a primary carnitine deficiency is at risk for sudden death. Tophs’ pediatrician also noted an elevated enzyme level that could be related to his liver or muscle function – to this day, that particular enzyme level remains high.
Through all Tophs’ weight checks and well-baby visits, his pediatrician, also a mother, would openly share her thought process, which comforted me, because it echoed mine. “Should I really be worried?” she’d ask herself. After all, Tophs crawled at twelve months, but some kids never crawl, and he walked at seventeen months, the same as my daughter, who developed normally. He had these strange temperature control issues and was a little late to talk, but so are a lot of kids. Usually when his pediatrician walked into the exam room, Tophs’ deep eyes would widen, and he’d quickly show off his left dimple. Sometimes he’d even dance around the floor for her, clapping and singing original songs made of babble and impeccable rhythm. “He’s just not sickly,” she’d say, and I’d agree. Tophs was my easy baby with a charming demeanor, a keen ear for music, and a sweet face that had earned him a modeling offer.
Perhaps, too, I relaxed after those appointments because even though I knew his doctor couldn’t guarantee me a healthy son, she hadn’t stopped plotting his growth and asking questions. She knew him well, cared about his development, and would order the right tests or refer him to specialists when the time came.
After Tophs visited the geneticist and had his carnitine issue resolved with a round of medication, his other medical problems remained, and it seemed that time had come. I’d found a small hernia when bathing him the day after we left the hospital, and the surgeon understandably wanted Tophs thoroughly checked out before surgery. Also, our son was only getting older, and, even if his growth failure, hypoglycemia, carnitine deficiency, and abnormal lab results turned out to be unrelated, we had to start digging deeper.
When Tophs was born, the first thing my obstetrician said was, “He’s a little blue, but he’s fine.” Some babies are of a bluish tint after delivery but considered healthy if they “pink up” quickly. The nurse put Tophs on my chest briefly and then moved him under the nearby warming lights. I guess I couldn’t give him heat quickly enough. A few weeks after Tophs’ birth, while we were out shopping, his foot turned blue. Within a minute or two his foot regained its color, so we didn’t rush to the doctor. But I never forgot the mystery of that moment.
Where did it all start with him? Do any of these dots connect? These thoughts profit me nothing, and yet they belong to me, uniquely, so they feel as though they are worth something.
Months after Tophs turned two, I became more concerned about a possible speech delay. What bothered me most – more than his lack of words – was the feeling that I couldn’t get through to him. He knew his name but didn’t always turn when I said it. He didn’t follow simple commands, and he flipped quickly through books on his own, fussing if I tried to stop him to point out a bird or fish on the page. One night, as I scrolled through iPhone videos of my daughter at his age, I realized the simple conversations we were able to have didn’t exist between Tophs and me.
You are not supposed to compare your children, but they are supposed to hit milestones, and sometimes missed milestones are noticed through other children. Like when I heard Tophs’ preschool classmate tell her mom “I’m hungry,” and it hit me that I’d never heard Tophs express that feeling.
His pediatrician, who had already referred him to a geneticist, endocrinologist, gastroenterologist, and speech and language pathologist by this time, added a developmental pediatrician to the list. I was convinced this particular specialist, booked several months ahead, would “crack the code,” as Tophs’ pediatrician often said.
Before his third birthday, Tophs finally got an appointment with that developmental pediatrician. After the brief observation period and a round of questions for us, the doctor sat down, and I prepared for the verdict. Noting Tophs’ hypoglycemia, growth failure, and now global developmental delay, the doctor suggested more – and less – than I’d ever thought possible. “I think your son likely has a syndrome we just aren’t smart enough to figure out yet,” he said. “Maybe years from now, someone in Europe will discover his syndrome.”
Tophs, he said, should get every new wave of genetic test that becomes available.
I sit on the edge of the couch one evening and watch Tophs, who will turn four in two months. Standing behind the desk, using just the mouse, he’s already clicked his way to Amazon on our desktop. He’s looking at various projectors for sale, saying to himself, “That’s it! There it is.” I’m amazed by his willingness to jump into an activity and experiment without knowing where he’ll end up – he woke up at five a.m. one day last month to work on a new 24-piece puzzle. Not all kids work this way. My five-year-old daughter, who is a lot like me, wants instruction before engaging a task. She and I want to know there’s a right path that we can follow. Tophs can’t always tell you what he’s doing, but that brain of his is working in ways mine never has. It works so well, in fact, that a few days after he surveys those projectors, we receive email notifications from Amazon. Tophs has ordered two leather handbags and an Amazon Fire tablet, along with three chargers.
And yet, something’s not quite working, right? It would be nice to take a postmodernist view of my son’s challenges and tell you he just doesn’t fit in a box – and who constructed that box anyway, and do any of us really fit into it? But there’s good reason he’s now in a special education preschool class where he receives speech and occupational therapy every week. And while his vocabulary and understanding have exploded in only a few months, his teacher and I still question how he processes information and how we can help him retrieve the words in his head.
Lately, his sentences follow an interrupted cadence: “Mommy, can I um uh, can I um, can I tell you something? Can you um uh, um um uh, can you um bring the dollhouse here?”
His search for order and words might improve in no time, and it doesn’t seem to bother him. Yet because of the way I process information and the way I’m used to hearing speech ordered, his fumbling hurts me. I want to play God for a moment, reach inside, and re-wire his system without interrupting his ridiculous humor, fierce bookcase-climbing skills, or the way he sings the high notes of Andra Day’s “Rise Up” in the car.
Once I thought I had found the answer. I thought maybe this writer and stay-at-home mom had discovered what we’d all been missing. After a long break from Googling rare diseases, I returned to my old ways and typed in a few of Tophs’ symptoms. This time, the results highlighted Russell-Silver syndrome. Some of the signs and symptoms – hypoglycemia, failure to thrive, short stature, large head, and an increased risk of developmental delays – fit him perfectly. I joined Facebook groups and asked questions of parents whose children already had the diagnosis. They understood what it was like to buy size twelve-to-eighteen-month-old clothing for a three-year-old. They recommended places to buy wetsuits because, like Tophs, their kids couldn’t adjust to cold water at the beach or pool. These moms, too, had worried about their child’s glucose level dropping overnight.
We can live with this, I’d thought. We can go to the national conference in Chicago and learn everything there is to know, and he will take growth hormones and go to the prom one day and be okay.
Without me even mentioning Russell-Silver syndrome, the geneticist tested Tophs for it, along with Fragile X syndrome, at his very next visit.
“Do you think he has it?” I remember asking Paul in the middle of church service. The most measured person I know, Paul doesn’t allow his thoughts to jump off cliffs. He’s also practical and prayerful, and he never worries for long.
“I think he might,” he added. I felt a rush of validation tinged with sadness. “Some of the characteristics fit. He definitely will need intervention.”
We continued to listen to the sermon, but I sat a thousand miles away, cradled by that truth: The only thing we knew for certain was that our son would need help.
Weeks later, the genetic counselor called: The tests didn’t show a match for either Russell-Silver or Fragile X. Once again, I tiptoed along an uncomfortable but familiar high wire of motherhood, thanking God for what my son didn’t have, and wondering if we’d ever find out what he did.
I also knew those results meant we had one option left: Whole Exome Sequencing. I call it the “Brave New World” of testing. Using samples of Tophs’ blood, a lab in Maryland would isolate his DNA and examine over twenty thousand of his genes for mutations. The test, which takes four months to interpret, was our best shot at finding a cause of his medical and developmental quirks.
Tophs’ sweet and smart genetic counselor, who ordered the sequencing in August, called the Monday after Thanksgiving to explain the results. The lab had, indeed, discovered a few “misspellings” in Tophs’ genes, but there was no evidence those mutations had caused any of his symptoms. For instance, my son has two changed copies of a gene – one passed down from me, the other from Paul – but the particular misspellings haven’t been seen before, so we don’t know if the changes are cause for concern or just a benign familial quirk. In medical terms, it’s called a “Variant of Unknown Significance.”
So many aspects of my son are typical of a three-year-old with just a twist of Tophs. He loves to say, “I don’t like that” to everything I suggest, but he orders his words uniquely, often beginning and ending a sentence with “I said.” And he’s still a strong cuddler. If you pick him up during a tantrum, sometimes he’ll wrap his arms around you tightly. I think he likes the strong sensory input he’s getting from the squeeze, but I like to think his heart’s just that big.
“I love you, Tophs,” I’ll say.
“Don’t say, ‘I love you, Tophs.’ I don’t like that, I said.”
Sometimes if I catch him in just the right second of fading anger, on just the right spot between his ribs, his heavy eyebrows will lift and he’ll give into a laugh, that great dimple piercing his left cheek as I tickle him until neither one of us can take it anymore. His laugh, much like his dancing and funny sayings, has yet to melt away the unknown. In fact, it refuses to be concerned with lowering enzyme levels or raising blood sugar, and, in those moments, so do I.