This week, we've been thinking about families, and in particular relationships between generations. Today, Clare Dunsford talks about the specific challenges and rewards of raising a child with special needs and his own special way of looking at the world.
“What do you want to be when you grow up?” I ask my eighteen-year-old son with some hesitation one day, suddenly aware of his strong jaw with its newly fledged beard. Looking at my handsome son, I’m not so sure I want to hear the answer to my question. J.P.’s options for the future are limited by the genetic mutation that colors everything in his life. J.P. has Fragile X syndrome, a mutation on a gene on the X chromosome that suppresses the production of a vital protein, dubbed FMR-1. The lack of this protein causes a short attention span, speech and language deficits, behavioral problems, anxiety and unstable moods, and learning impairment, often resulting, as in J.P.’s case, in mental retardation.
On this particular day, my son startles me with his reply to my mundane question: “I want to be just who I am.” I am used to his gnomic pronouncements—“my Zen-baby,” I used to call him when he was younger. But this time his words take my breath away.
There is mystery in the way J.P. sees our world. There is mystery in how he came to being, emerging from an ever-receding string of mutant DNA that coursed through my family unknown to us. There is mystery in where the first mutation occurred, for fragile X is a trinucleotide repeat disorder, which means that a stretch of DNA silently and gradually lengthened over several generations, until it made its presence known like a stuttering broken record. There is mystery in why this happened at all, but I don’t often ask that question, any more than J.P. does.
J.P. and I are not alone with this enigma. One in 3600 boys, like J.P., have a full mutation of the gene that causes Fragile X. One in 4000 girls do, too. And one in 700 males and one in 259 females, like me, carry a premutation that can wreak havoc in the next generation.
DNA can make us fatalistic: if I am my genes, isn’t my fate out of my control? In practice few of us believe exclusively in the power of our genes to make us who we are. However, there is little denying the global effect of the full mutation of the fragile X gene on my son and others like him.
For J.P. ordinary life is a frightening challenge. Loud noises or crowds, an unexpected touch, changes in routine—all can overwhelm him and lead to outbursts in which he may bite himself, or hit others, or yell. My son lives his life in a state of high alert. Every night when he goes to bed, J.P. asks me in one quick garbled phrase, “No storms? No blackouts?” the words tumbling out in terror. Every morning J.P. writes down his schedule: “6:00 wake up, 6:30 eat breakfast and watch The Bear in the Big Blue House, 7:00 bus,” and so on. If he doesn’t know what will happen next—and who among us can be sure?—he hangs in an awful anxiety. The day revolves around 4 p.m. when Oprah comes on the air. J.P. doesn’t just watch her show; he tapes it so he can watch it over and over, crowing with glee and with the same intonation at the same jokes.
Nothing moves me more than J.P.’s everyday heroism, when he fights back against his genetic fate. Creating strategies to staunch the flood of the unknown, he writes his schedules and watches his Oprah and uses language to light up the dark places. Each day that goes by J.P. takes back a little more of the world we take for granted, and though he will always face a greater challenge than most of his peers, he celebrates victory after victory. If you’re dealt an unlucky genetic hand, it’s what you do with your cards that counts.
When J.P. was twelve, he had to get his blood drawn to check the level of one of the medications he takes to calm his system. “No, no, I hate this, I can’t,” he said over and over as we approached the lab. By the time his name was called and we entered the booth where the technician waited to draw the blood, he was wrestling with me to escape. He started crying and hyperventilating as the young woman approached him; when she tried to have him sit in the chair, he bared his teeth and lunged at her. I watched as my sweet boy morphed into a wild animal caught in a trap. Panicked myself now, I tried to explain to him that if he didn’t sit in the chair and let the technician do her job, the huge orderly standing nearby would have to pin him down.
And then a miracle happened. I saw a light in his eyes as he took in what I said, and, with a vivid sense of his brain’s struggle, I witnessed his will overcome his visceral fear. My boy returned. He did what humans do: he made a choice. Sobbing and shaking, J.P. said, “Okay, Okay,” and—my heart soaring and breaking all at once—I looked on as he let the woman puncture his vein. His strong red blood surged into the glass tube, carrying the fractious DNA that made him fight but that allowed him to reason, too.
Richard Dawkins thinks of a gene as “the center of a field of influence on the world at large.” The FMR1 gene has a field of influence no greater and no less than its embodiment in J.P., this joking, loving, anxious, peculiar young man whose words are muttered and unclear but sometimes lyrical, whose gait is loping and awkward but whose long arms are graceful, whose eyes cannot meet yours but who will never miss your meaning. J.P. has humbled his parents, inspired his teachers, given heart to his classmates, despite the fact that he will never work at a job unaided, never drive a car, never live on his own.
Was J.P. meant to be impaired by a genetic mutation? No. J.P. was meant to be... J.P. And as his mother, I was meant to witness to his existence, and then—just as inevitably as a premutation on my gene led to a full mutation on his—to love him. J.P. reminds the world that there are reasons to exist that are not economic or practical. With the growing ability of science to manipulate reproduction, I worry that people like J.P. will be edited out of the human genome. Don’t misunderstand me: I long for a way to fix the gene that keeps him from being anything that he wants to be, but until that happens, I want my son—J.P. just as he is—to matter.
Clare Dunsford is an associate dean in the College of Arts and Sciences at Boston College and has been a contributing writer for Boston College Magazine. She's the author of Spelling Love with an X: A Mother, A Son, and the Gene that Binds Them.