Just after midnight, I felt the first unmistakable contraction. I still had two days until my due date, but I knew it was time to get to the hospital. A bulldozer inside my uterus revved its engine, shifted into high gear, and rammed a baby out into the world less than two hours later. Her name would be Isobel, Izzy for short.
She weighed five pounds, three ounces, below the threshold for “normal.” This was surprising—I’d had an uneventful pregnancy, and in one of my last prenatal checkups, my obstetrician predicted that she’d weigh about seven pounds.
Did the doctor miscalculate my due date? I wondered. Should I have taken more prenatal vitamins? Eaten better, worked less?
There would be no explanation, at least not then. We moved upstairs into a recovery room with a view of the summer sun rising behind the Oakland, California, hills. In those early-morning hours, I cradled Izzy’s warm, powdery body and nestled into a feeling that everything was fine.
Five weeks later my father, a retired pediatrician, put a stethoscope to Izzy’s chest and heard a hissing noise. An echocardiogram two days after that revealed a small hole in the membrane dividing the lower chambers of her heart, causing oxygenated blood to leak back into her lungs. The cardiologist explained that her heart was working harder than it needed to, burning extra calories and keeping her small.
Odds were that over the next few months, new tissue would grow and the hole would “spontaneously” close. Considering how much of human development happens on its own, for a heart to correct itself in this way seemed perfectly plausible. I told myself that’s what would happen. At Christmas and New Year’s Eve gatherings with family and friends, that’s what I told them, too.
But my hope was no match for the eventual and unanimous recommendation from a panel of two dozen cardiologists: open-heart surgery, and soon. A force I could not see was starting to take over.
As Izzy’s surgery date neared, I could feel the panic slowly and steadily growing inside me. I retreated into what could be known: A cardiopulmonary-bypass machine would bring her body to a sub-hypothermic temperature, allowing the heart to stop beating. The surgeon would saw through the sternum, shave a tiny piece of tissue off the heart’s outer membrane, and use it to patch the hole. A resident would sew her back up.
Two conversations helped convince me that after the surgery, Izzy would grow up healthy and things for our family would return to normal. The first was with a couple whose son had the same procedure with the same surgeon. They apologized for having to mute the phone for short stretches to temper their 5-year-old’s rambunctiousness, something I found reassuring.
The second was an email exchange with a woman who underwent a valve replacement in the 1970s, when open-heart surgery on babies was still relatively uncommon. “I was a three-season athlete in high school,” she wrote, “and did all the partying that everyone else did. The only impact on me was a scar that healed well and frankly, made me feel like a bit of a badass.”
Less than 24 hours after doctors had wheeled Izzy into the operating room for surgery, she was guzzling down bottles of high-calorie formula. In 72 hours, her rosiness returned; eight days later, we left the hospital and arrived home to find the first buds on our magnolia tree. Within a few weeks, Izzy had gained enough weight to make her growth-chart debut at the 0.2 percentile. Witnessing her scar heal was like watching a time-lapse movie, only in real time.
I started the process of reeling our ship back to shore—we’d be there soon, I thought. My parents booked their flight back to the East Coast, and my husband started a new job earlier than planned. Disillusioned by my last tech job, I was determined to make a fresh start somewhere else. I could envision the end of Izzy’s recovery period, the loving nanny I’d finally hire, a more deliberate career.
But, no. Just as we’d caught sight of land, we were again suddenly unmoored, pushed by unforgiving hands back out into the dark, open sea.
The cardiologist called on an unseasonably warm afternoon, a Tuesday last April.
Sure, I have a few minutes.
I glanced at Izzy, eight months old, wearing only a diaper. The edges of the five-inch incision line down the middle of her chest were still red and puckered from the suture removal a few days earlier. Her scar served as a visual cue that, surely, the worst was behind us.
The call itself was not a shock. One week before surgery, a neurologist had examined Izzy and noticed abnormalities in her facial features so subtle that I, her mother, could barely see them myself—slightly wide-set eyes, straight eyebrows, a thin upper lip, a tiny hole on the upper ridge of her ear that I’d mistaken for a mole. Genetic testing would be the sensible next step, the neurologist had said. He’d ordered seven vials of Izzy’s blood to be drawn in the OR.
The cardiologist began with a “Well …” followed by a sigh. Then his voice assumed the objectivity of a radio traffic reporter describing a seven-car wreck, and he rattled off the details he knew.
I absorbed only the keywords—“abnormal result … syndrome … genetic material missing …”—and scribbled “1p36” on the back of a stray Home Depot receipt. Anxious for more information, I ended the call and grabbed my laptop.
I steadied my fingers and clicked through to an online forum where parents had celebrated their child’s first step at 3, 4, or 8 years old. They compared devices to help nonverbal children communicate and shared work-arounds to Keppra, an anti-seizure medication that can cause kids to bite themselves or hallucinate.
As I skimmed their posts, my heart pounded and I started to hyperventilate. Air was stuck in my throat; I screamed to let it out, gripping the edge of the kitchen counter so I could scream louder. I felt as if I was suffocating in a room filled with invisible pillows, and the only thing that could cut through it was noise in the form of very loud, guttural, incomprehensible screaming. I slammed a door leading into the bedroom and pounded the walls. I remember thinking, I don’t give a shit if the neighbors hear.
The internet confirmed a truth that up until that moment lay beyond the boundaries of what I’d ever imagined possible for my child’s life or my own. As a mental warm-up before her birth, I’d imagined Izzy in painful situations that were both better (a broken arm, pneumonia, being bullied) and far worse (my death, or hers). I hadn’t imagined a scenario in which she might not walk or talk, or where she’d live with debilitating seizures. I hadn’t imagined that I might be uncertain whether she recognizes me. I hadn’t imagined caring for her for the rest of my life. I now had two children, but was only just beginning to understand what it means to be a parent.
The next day, my husband left early for his third day of work at his new job. In an orientation session about employee volunteering, while the presenter rolled a video about the Make-A-Wish Foundation, he sat in the back row and wept. Meanwhile, after a long, sleepless night, my son watched cartoons as I crawled through Izzy’s morning routine, taking breaks to ice my swollen eyelids. I finally got everyone dressed and dropped him off at preschool a few hours late without the words to explain why.
The day after that, Izzy and I had a geneticist appointment at the medical campus five blocks away. I’d been here before. Almost one year earlier, in my second trimester, I’d sat through the routine prenatal screening for birth defects and Down syndrome. The results had been normal.
The geneticist came in to greet me and Izzy. As I took in her easy, welcoming smile, a wave of relief washed over me. The test was wrong, and this is all a terrible mistake!
This was a delusion. She led us into an examination room, where we were joined by a younger, more clinical assistant. I called my husband and put him on speakerphone—we’d agreed before the appointment that he didn’t need to be there in person, a sign that at some level we had not yet fully grasped the magnitude of Izzy’s diagnosis.
The geneticist told us that my daughter has “the most common of rare syndromes diagnosed after birth.” Her tone remained gentle, but unequivocal.
“The size of her genetic deletion is clinically significant.”
“It’s hard to say what that means in terms of how the syndrome will present.”
I recounted some of what the internet had told me. Will she walk? Talk? Hear? Seize? See?
“We just have to wait and see.”
We reviewed three single-spaced pages of test results that looked as though they had come out of a dot-matrix printer. The geneticist was quick to clarify that “terminal deletion” referred to the physical location of Izzy’s 133 missing genes (that is, the terminus of the “p” arm of chromosome 1) and did not suggest that the syndrome itself leads to death, although its complications sometimes can. A second, more user-friendly handout summarized the syndrome’s most common “features” in a tidy, bullet-pointed list: seizures, deafness, blindness, low muscle tone, feeding issues, digestive disorders, heart disease, heart defects, kidney disease, intellectual disability, and behavior problems.
I fixated on the likelihood that Izzy would be nonverbal, feeling gutted by the possibility that she might not talk or even develop the coordination to sign. How would she express herself? How would I know her?
My husband left the appointment by hanging up. The geneticist briefly examined Izzy’s “curly” toes, noting it as a common and typically benign congenital anomaly—connected to her syndrome, perhaps, but no one could know for sure.
I packed up our things and made our way home. The only certainty I left with was that I had a lot more to worry about than a couple of curly toes.
Books, the internet, and friends said I would go through a grieving period. But I am still not entirely sure what I am grieving.
I didn’t lose a child; now a year post-op, Izzy is here and very much alive. She shakes her head vigorously when she’s happy, and grunts indignantly when she’s not. She has gobs of voluminous hair that looks as if it’s been blown out at a salon—a common trait for “1pers,” who bear a strong physical resemblance to one another; many don’t look like their parents. But unlike most “typical” 21-month-old toddlers, she cannot yet sit up by herself (let alone toddle), grab a spoon, or use any words to communicate. A few weeks ago, she started to regularly say “aaaah,” one of the vowel sounds that are the first forms of speech—a milestone that most babies hit at four to five months old.
I spent the months following Izzy’s diagnosis deeply confused about how I should feel. Her heart defect had been an isolated biological issue, and the surgery was a relatively common procedure. The hole is gone. A genetic syndrome is different—uncontained and unfixable. Every cell in Izzy’s body lacks some data, and there’s no way those data can be recovered.
During sleepless nights, I anchored my grief in the heft of Far From the Tree, Andrew Solomon’s profound, 1,000-page book about the challenges parents face in accepting differences in their children. “We depend on the guarantee in our children’s faces that we will not die,” Solomon writes. “Children whose defining quality annihilates that fantasy of immortality are a particular insult; we must love them for themselves, and not for the best of ourselves in them, and that is a great deal harder to do.” The book offered me a crucial mooring. Powerless to change my circumstances, I could at least change my psychology.
I am learning that grief can be complicated and ambiguous—that we hold ideas and expectations of ourselves and loved ones so tightly that we have difficulty seeing them from any distance, and that it’s even harder to let them go.
I can describe what’s gone. I’ve lost the buoyancy I gained from the conversation with the parents of the rambunctious 5-year-old boy. I no longer feel the relief, even joy, of envisioning Izzy as an athletic, partying, badass teenager.
I lost any lightheartedness I had left as the 40-year-old mother of two young children. I lost my faith in statistics. A 99.98 percent chance of something not happening is also a .02 percent chance that it will.
I lost the ability to enjoy the scene of my two kids together without feeling guilty that I’d sold my son short. Instead, it’s a reminder of the responsibility I feel to gently acculturate him to the strange, politicized world of disability rights and rare diseases, and to breed empathy and a respect of difference in him above all else.
I lost the identity, earnings, and lifestyle that came with having an upward career trajectory and being an equal breadwinner to my husband. We now have the sort of traditional arrangement I never thought I’d be in: He makes all the money, and I do most of the emotional, logistical, and physical labor of child-rearing. For Izzy, this includes frequent doctor appointments, three therapy sessions a week, and a lot of open-ended research and worrying.
This laundry list of dreams lost has positive value, Solomon maintains. “While optimism can propel day-to-day life forward, realism allows parents to regain a feeling of control over what is happening and to come to see their trauma as smaller than it first seemed.”
Without crumbly, unreliable hope, what else is there? There’s my child, no less alive or human than any other, and with abilities and inabilities much different than I imagined. And realism, which I’ll use to reassemble a positive, long-term picture of what her life could be. Izzy’s diagnosis wiped my canvas clean. But while the expanse of whiteness is unsettling, it is also temporary. Soon there will be lines, contours, shading—a new and beautiful composition. I will not accept less.