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Fairest of Them All: A Child’s Rare Diagnosis

When my snow-white baby was born, I thought she was otherworldly-and perfect. Shortly after, a doctor explained she has a complex genetic disorder.

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Fairest of Them All: A Child's Rare Diagnosis Illustration by Emily Taylor

The visitors come from all wards of the hospital to catch a glimpse of our newborn daughter. “Some white,” the nurses whistle and coo into her plastic bassinet, using the vernacular emphasis that has become so familiar during my four years in Newfoundland. “That hair is some white.”

Sadie Jane is born on Boxing Day 2010. Overdue, she is unwrinkled and chubby, with perfectly formed features and a shock of white hair on her head. The ward pediatrician probes her pupils with a tiny flashlight. Afterwards, 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 the doctor again.

My child is the fairest of them all. The weight of my pride is unbearable, too big for our tiny room in the maternity ward. I stage a photo shoot on my bed. 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. They return trailed by a cleaner. “Is she an albino?” the woman asks, a note of alarm in her voice. “No,” I tell her firmly.

When Andrew recounts this tale to his mother over the telephone, her heart sinks. She and Andrew’s father, Don, asked the same question when they saw the first photographs. Don, a family physician in Georgetown, Ont., believes the pediatrician opted to spare us, for now.

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. Sunburns are quick and dangerous. Almost every baby with albinism will develop nystagmus, in which the eyes dart back and forth involuntarily. Daylight can be intolerable.

There are few experts in this field. When we visit our family doctor a week after being discharged from the hospital, she notes that Sadie has very fair skin, that her eyes are normal and that she is thriving. Thriving! My maternal pride swells. My baby is flourishing. My husband, however, is not doing well at all. He is distant and unreachable. 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. Later she sleeps in my arms while Andrew relays his father’s concern, releasing his own bottled fear in the process. To me, the suggestion is infuriating and impossible. I call my mother. “There might be something wrong with Sadie,” I tell her. There is a catch in my throat, and I can’t continue. My mother does not hesitate. “No one will love her any less.”

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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 have the markings of a supernatural story.

When Sadie is five weeks old, we meet with a geneticist, Dr. Lesley Turner. Sadie has blood taken. The results arrive four weeks later: she has oculocutaneous albinism Type 1 (OCA1) variants a and b. OCA1 occurs with one in every 40,000 births. The recessive gene can be passed on silently for centuries, because both parents must be carriers 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, N.L., 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. The first time Sadie reaches for an object, the first time she smiles at me, these will happen on a different timeline, and they will be some of the most exciting, profound moments of my life.

Albinism’s ethereal whiteness inspires lore across the globe. Among the Guna people of the Guna Yala Islands, off the coast of Panama, individuals with albinism are associated with magic powers that enable them to ward off a demon that periodically eclipses the sun and moon. They are called moon children, alluding to their mothers or fathers staring too long at the night sky during gestation. I print the albinism lore articles and keep them in a folder on my desk. They sit side by side with Sadie’s five-section medical binder. In some ways, what I learn about the moon children of the Guna Yala Islands is just as important to my understanding of the condition as the literature from our genetic counsellor.

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In June, I am cornered at an afternoon gathering by an acquaintance, a tireless raconteur of questionable narratives. “My aunt is an albino,” she says. “She had to wear a blanket over her head during the day if she ever went outside. Everyone thought she was a witch.” “Really?” I ask, unconvinced. “You got the short end of the genetic stick,” she says, shaking her head. It enrages me that this woman is calling my beautiful baby a manifestation of poor genes. But it is the interactions during the most mundane aspects of life that wear me down. A flash mob of shoppers comes alive at the grocery store when I push my daughter along the aisles in the cart-craned necks, pointed fingers, wide-eyed astonishment. “Does she get her hair colour from you or your husband?” they ask.

Sadie gets fitted for glasses in the fall, to help control her nystagmus and improve her distance vision. Something about the pink plastic frames digging into her chubby cheeks upsets me deeply. I erupt in great, galloping sobs at the optometrist’s office.

At eight months, Sadie begins to spend time at our local CNIB (founded as the Canadian National Institute for the Blind), a centre where we can use a playroom designed for children with limited sight. A sometimes darkened lair, it is a wild array of flashing lights, mirrors, padded floors, lit-up toys and beanbag chairs, all under a convincing projection of stars. Sadie’s vision progresses with each visit, until one day she notices the stars on the ceiling.

Months back, pushing my stroller through CNIB’s doors for the first time, I agreed with a mother I met in the hospital waiting room in St. John’s: “Parenting is not supposed to look like this.”

But it does. And it will. I see lots of other kids wearing sunglasses, and we live in an age of UV-proof clothing and SPF awareness. Sadie is beautiful and smart and ridiculously funny, and most importantly she is loved. Her network starts with her two smitten parents and expands across family and friends, a team of doctors and a beloved dog that waits with tail-thumping enthusiasm at the nursery door every morning. Her fans include her sitters, the besotted employee at our local grocery store and our postwoman.

When Sadie is a year old, Dr. Turner invites us to share our tale of genetic discovery with her first-year medical students. We nervously over-prepare with a 21-slide PowerPoint presentation and seven pages of notes. The talk goes smoothly, until we broach the topic of having a second child. There is a one-in-four chance of albinism, and one-in-two that the baby will be a carrier regardless. Then there is a one-in-four chance that the gene will not be present at all. These numbers tell me as much as tea leaves or tarot cards. A second child will have this condition, or she will not.

We look out at the 50 or so faces in the room and shrug our shoulders, helpless to fate, helpless to a wiring system I barely understand, the invisible ruler we must obey that hovers, depending on what you believe, somewhere between God, fairy tales and science. The talk stops here. The students clap, and Sadie looks up from the third row, where she has wedged her walker between a desk and a knapsack, happy to receive the students’ attention, content to hear her parents’ voices in the background, knowing that we are there making sure (for now) that her world is padded and safe.

Presenting to the medical students was not as frightening as I had thought it would be. The reality is that I tell versions of this story every single day. I tell inquisitive moms at playgroups; I tell my seatmates on airplanes and curious strangers at the park. One day, I will pass it on to the person who matters most, because it is her story, after all. I wonder how she will tell it.