Excerpt: Beyond the Pale
By Emily Urquhart
The visitors come from all wards of the hospital. There is an audiologist, a social worker, a lactation consultant, a rotating cast of doctors, and an endless stream of nurses. We have a private room, but our newly formed family of three is rarely alone. This is not unusual in the maternity ward. What is curious, however, are the nurses who visit with no service to offer. They arrive at my side, somewhat apologetically, to catch a glimpse of our newborn daughter. “Some white,” they whistle and coo into her plastic bassinet, using the ver- nacular emphasis that has become so familiar during my five years in Newfoundland. They say it to me, and they repeat it to one another: “That hair is some white.”
Sadie Jane is born in the usual excruciating manner on Boxing Day, 210. Overdue, she is unwrinkled and chubby, with perfectly formed features and a shock of white hair on her head. Her mouth a tiny O and her arms flailing, she reaches constantly for my arms, my milk, my warmth. Her eyes flutter open occasionally, but mostly they’re shut. In one of our baby’s fleeting moments of wakefulness, the ward pediatri- cian probes her pupils with a tiny flashlight. Afterward, she looks past me and my husband, Andrew, past my parents, fixing her gaze on the spruce-clad hills behind the hospital. “You have a very fair, very healthy baby girl,” she says. We never see that doctor again.
My child is the fairest of them all. The weight of my pride is unbearable, too big for our tiny room on the maternity ward. I stage a photo shoot on my bed, and Andrew takes the picture that will become Sadie’s birth announcement. I beam the image across the globe.
The next day, Andrew takes Sadie in his arms and goes for a walk down the hall. The nurses crowd around, making a fuss over her white hair and scolding him in the same breath. “No walking with babies in the hall! That hair! The liability!” He is heading back to our room when he overhears one of the nurses ask, “Is that baby an albino?”
They return trailed by a heavy-set nurse with dark hair and few teeth. “Is she an albino?” the nurse asks, lisping slightly, a note of alarm in her voice. “No,” I tell her firmly. The woman stares back at me, bug-eyed, bewildered. Then she lets herself into our bathroom, where she cleans the toilet, empties the trash bin, and wipes down the sink. She is wearing nurse’s scrubs, but it is clear now that she is a janitor.
As Andrew recounts this strange tale to his mother over the telephone her heart sinks. She doesn’t know what to say, because both she and Andrew’s father, Don, asked the same question when they saw the first photographs of their granddaughter. Don, a family physician in Georgetown, Ontario, grows increasingly tense as the days pass. Why didn’t the pediatrician say something? he wonders. He is 99.9 percent certain, as convinced as he can be without examining her, that Sadie has a genetic condition called albinism. It is stable, and there is no treatment (you can’t substitute good genes for bad ones—at least not yet). He believes that the doctor opted to spare us, for now.
In a week’s time, Don will be on a plane to Newfoundland. His role as a grandfather is not to deliver grim medical news. He is the support staff, not ground control, and he feels certain that our family doctor will say something at the one-week checkup. After that, he can offer guidance.
Albinism, a genetic disorder, is both obvious and mysteriously complex. (As with the pejorative “retard,” those in the know don’t use the word “albino” anymore.) People with oculocutaneous albinism have little to no pigment in their skin, hair, and eyes. They have rela- tively little protection against the sun; burns are quick and dangerous and may cause skin cancer.
The current understanding of the way pigment affects vision is more complicated. Normally, when the irises are faced with glare, they activate the pupils, a pair of gatekeepers that control how much light reaches the back of the eye. Without this regulation system, stray light enters through the pupil and iris, impairing the develop- ment of the retina and interfering with the optic nerve (the wiring system that connects the eyes to the brain). Albinism also affects the development of the fovea, a cluster of cones in the middle of the ret- ina that are responsible for visual acuity. At around six weeks, almost every baby with albinism will develop nystagmus, in which the eyes dart back and forth involuntarily. We don’t know why this condition is present in albinism, but it is unrelated to pigment.
What we also know is that low pigmentation results in photopho- bia, meaning that daylight, particularly the searing rays of high noon, can be intolerable. It resembles those initial moments of squinty-eyed discomfort the rest of us feel when exiting a dark theater into the light of day. Together, this complicated cocktail of eyesight issues is called low vision, and it is like seeing the world through an Instagram filter. The pixels are bigger, the world is a little brighter, and while it is not blurry, the finer details are lost.
There are few experts in the field of albinism. The condition falls across a spectrum of medical specialties—genetics, ophthalmology, dermatology—and most general practitioners will never see a patient with albinism during their careers. When we visit our family doctor a week after Sadie and I are discharged from the hospital, she dismisses my husband’s concern about the janitor’s comments. “I’ve seen babies this fair before,” she tells us. Her file notes from our visit on January 5 list that Sadie has very fair skin, that her eyes are normal, and that she is thriving. Thriving! My maternal pride swells. My baby is flourish- ing. My husband, however, is not doing well at all.
Hours after the doctor’s appointment, we take the dog for a walk and stop at a nearby schoolyard, where he runs in circles, chasing his doggy shadow across the floodlit snow. Sadie is tucked into her dad’s coat, strung up in a contraption that keeps her close to his chest and out of the cold. We silently shuffle back and forth to keep warm. A heavy darkness fills the air between us. It followed us here, stalked us down the stairs from our apartment and along the night streets. It has been with us since we left the hospital. Something is wrong with Andrew. Later I will find him sitting quietly in the dimness of early evening. I switch the lights on, and he turns them off again. Even his camera, a constant flashing light from Sadie’s first cry, has gone dark. But when I ask him what is wrong, he cannot find the words to tell me.
My husband is the kind of person who leads the pack in a crisis. This strength, along with his height, his dark hair and green eyes, and his ridiculousness, are what had me pining to be his sidekick. But since the birth of our first child, he has come loose. He is distant, and unreachable. Parenthood exposes his Achilles’ heel, shocking both of us. What I don’t know is that, like his parents, Andrew is convinced our newborn baby girl has a rare genetic condition.
My in-laws arrive the next day. Don carefully examines Sadie, using the contents of his doctor’s tool kit, a ritual I wrongly assume follows the birth of every grandchild. He takes on the responsibility that, as a grandfather, he had hoped to avoid. He waits until morning, when his son, so clearly tormented, comes to him. Andrew is saddened but receptive to the possibility of a problem. Later, when we are alone, Sadie sleeps in my arms while he relays his father’s concerns, releasing his own bottled fear in the process. To me, the suggestion is infuriating and impossible.
When noon comes and I still have not contacted my parents, it is gently suggested that I make the call. Sitting in a rocking chair by the nursery window, phone in hand, I stare out at the familiar scene and find it distorted. The row houses, stacked one above the other up Prescott Street, the two towers of the basilica, the gray winter sky—it is all askew. I dial and wait for my mother to answer.
“There might be something wrong with Sadie,” I tell her. I have a catch in my throat, and can’t continue.
My mother, listening on the other end, does not hesitate. “No one will love her any less.”I do not fail to notice the peculiarities of my daughter’s arrival, but I interpret them in a completely different way. My husband is a biologist, attuned to the natural order of the world. I am a folklorist, and walking the line between fantasy and reality is my work. I believe in science, but I understand fairy tales. My new baby’s astonishing white hair and unusual beauty, her immediate legion of admirers, even the timing of her arrival—a labor that stretched across some of the holiest days of the liturgical calendar—have the markings of a supernatural tale.
We mythologize even our routine birth stories. The most extraor- dinary reside in the world’s grand narratives, from ancient Greece to the foundations of Christianity. Like the detailed version of Noah’s birth, brought to public attention in the 1940s with the discovery of the Dead Sea Scrolls. In it, the boy is born with flesh as “white as snow,” hair as “white as wool,” and unusual eyes that illuminate the room. His father, Lamech, is disturbed by his newborn son’s appearance, so different from his own. He is suspicious too. Recently, there were rumors that angels had been cavorting about with mortal women, and this child has definite angelic qualities. He consults his father, Methuselah, who in turn seeks the counsel of his father, Enoch. What Lamech ultimately discovers is that the pale flesh, white hair, and luminous eyes are attributes of the child’s divine calling. “Call his name Noah,” Enoch advises. “When all mankind who are on earth shall die, he shall be safe.”
Texts from some of the scrolls are published in the mid-1950s, and this birth story catches the attention of a British ophthalmol- ogist named Arnold Sorsby. In 1958, he publishes an article titled “Noah—An Albino” in the British Medical Journal. He writes that the narrative is “clearly not that of a miraculous child but of an albino.” To help prove his point, he includes a genetic breakdown and an adjoining diagram explaining the possible inheritance pat- tern of Noah’s albinism. Only in the final paragraph does he suggest that the article is a parody, when he earnestly considers the recessive genetics of angels.
I read this paper shortly after the birth of my own ethereal child (“Your baby looks like an angel!” exclaims another new mom at the hospital). I search for Sorsby online but find an obituary rather than a white pages listing. What I glean from his life story is that he edited the Journal of Medical Genetics for seven years in the 1960s, he was an ophthalmologist employed at London’s Royal Eye Hospital, and he specialized in genetic conditions of the eyes. All of this posits him as a person whose theories you would be inclined to take seriously. Case in point: when the first American albinism advocacy group forms in the 1980s, it takes the acronym NOAH (National Organization for Albinism and Hypopigmentation) as its official name.
I show Sorsby’s article to Dr. Daniel Machiela, a professor in the Religious Studies Department at McMaster University in Hamilton, Ontario, with special expertise in the interpretation of the Dead Sea Scrolls. He is interested but unconvinced.
“There is a metaphorical and symbolic attachment to the way he looks,” Machiela says. “And that clearly seems to be what is going on here.”
I want to connect Noah’s story to my own, so I suggest that his ancient Near Eastern parents theoretically would have had dark hair, skin, and eyes, and therefore a child born with white hair would be very unusual.
“The point in these stories is that he was not just like anyone else who was born then—the way you would expect them to be born,” says Machiela. “He stood out.”
When Sadie is five weeks old, we meet with a geneticist, Dr. Lesley Turner. She is exquisitely gentle examining our infant daughter, and I trust her immediately. We have seen an ophthalmol- ogist, and we understand that Sadie has characteristics of albinism, but the doctor refers us to the Provincial Medical Genetics Program for conclusive tests. Andrew and I sit at a round table in an office at the Health Sciences Centre in St. John’s, and I nurse Sadie while Dr. Turner and a genetic counselor draw our family tree—a narrative of various disasters that includes an uncle who died too young of mul- tiple sclerosis, a brother who died even younger of alcoholism, and on both sides the shattering experience of Alzheimer’s.
Sadie has five milliliters of blood taken, half the regular amount because she weighs just eleven pounds. She is silent when the needle pierces her skin, but she pees from the shock of it. The tiny vial of blood is flown to the University of Minnesota Physicians Outreach Laboratories, where I imagine a flurry of strangers in white lab coats carrying beakers and punching codes into complicated machines. The results arrive four weeks later: Sadie has oculocutaneous albinism type 1 (OCA1) variants A and B.
In OCA1A, the enzyme tyrosinase, which converts the amino acid tyrosine into melanin, fails to carry out its assigned task. In OCA1B cases, it makes a partial effort, and there is some pigment formation: yellower hair and eyelashes, darker eyes. OCA1 occurs with one in every forty thousand births. The recessive gene can be passed on silently for centuries because both parents must be carri- ers for the condition to manifest. It is so rare, so improbable. Of all the gin joints in all the towns in all the world, Andrew walks into the Ship Pub in St. John’s on a blustery June night. I spot him across the bar and think he looks familiar, so I introduce myself. The rest is genetic history.
It is a strange relief to succumb to your DNA. Earlier that week, I had fought back tears when a worried nurse at a lactation support session looked into Sadie’s eyes and asked, “Does she smile at you? Does she make eye contact? Can she focus on an object?” No. No. And no. But with the albinism diagnosis, I throw out all of my “baby’s first year” books and ignore the monthly milestones attributed to nor- mal development. The first time Sadie reaches for an object (a garish purple dragon hanging from the handle of her bucket seat), the first time she holds my gaze, the first time she smiles back at me, these will happen on a different timeline, and they will be some of the most exciting, profound moments of my life.
When I meet with Dr. Turner a year later, I ask her how it feels to be a genetic code messenger. She considers this for a moment. In our case, she has noticed a shift toward accepting Sadie’s condition since our first visit, particularly in me. In the beginning, I denied the possi- bility of a problem, or at least I saw it in a different way. Andrew, his earlier depression having lifted, seemed open to the diagnosis during the initial meeting.
The hardest cases are when a child’s prognosis is terminal. She tells me about walking into the small room where we met the previous year and facing an entire family (child, parents, and both sets of grandparents) to deliver the news of the fatal genetic flaw. The mood was heavy. The father was weeping. Dr. Turner excused herself for a moment on the pretense of finding a few more chairs. She went to her office, put her head down, took a few deep breaths, and said, “Okay, pull yourself together.”
“Then what?” I ask.
“And then I was fine to go back in.”
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