Clare M. Dunsford
The genetic information in all living things is stored in DNA which is present in chromosomes. Adenine, thymine, guanine, and cytosine (A, T, G, and C) molecules make up the DNA. They contain coded information that is required to construct a living organism and to direct the way it functions. The sequences of these four bases, A, T, G, and C, determine how you differ from other individuals and from other living things. The bases are paired, A with T, and G with C. We often use the term “base pairs,” since the presence of the base A presupposes the presence of a T on the other side of the DNA molecule.
—National Fragile X Foundation Web site, www.fragilex.org.
—Where art thou gone my own dear child?
What wicked looks are those I see?
Alas! Alas! that look so wild,
It never, never came from me:
If thou art mad, my pretty lad,
Then I must be for ever sad.
—William Wordsworth, “The Mad Mother”
I’ve set up my laptop in my town library today. The sun is streaming through the windows and reflecting off the computer screen so that I can’t make out a word. It doesn’t matter, though, because there is nothing written there. I’ve been sitting here for an hour, paralyzed by the weight of my memories, my brain scattered with the dense acronyms that litter my life: DNA, RNA, FMRP, FX. Anyone else would simply call it writer’s block.
But I am haunted by something that other writers don’t carry: a mutation that has been numbered, pictured, and stored in my medical file. I carry 110 repeats of a sequence of bases spelled CGG on a gene on my X chromosome in a spot where you carry about thirty. Another ninety of these uninspired little phrases and I wouldn’t be able to write this essay, or for that matter, to read the words you’re reading now. I would suffer all the maladies my son suffers. He has Fragile X syndrome, the most common inherited form of mental retardation.
Fragile X is what is known as a trinucleotide repeat disorder, in which a section of a gene—a “phrase” spelled CGG—expands with each generation until the gene, weighed down by its own prolixity, shuts down the production of a vital protein. At more than fifty-five repeats, you are a silent carrier of a premutation (and studies indicate that one in 259 women are carriers); if you have more than two hundred repeats of that section of the gene, you have the full mutation. As it happens, the protein made by the FMR1 gene—we know this in its glaring absence—regulates the mind, the emotions, and the body in complex ways. Without this protein, those with the full mutation of the Fragile X gene suffer mental impairment, ranging from learning disorders to mental retardation, attention deficit and hyperactivity, anxiety and unstable mood, and in about a quarter of unlucky individuals, seizures.
Advancing in a stealthy march, Fragile X does not behave like Down syndrome, which strikes like a bolt of lightning, leaving its distinctive mark on just one person; rather, this hereditary condition spreads like a tidal wave, sweeping up more than one member of a family. Disaster is strangely silent as it advances, and global when it arrives. When I learned that my son had Fragile X, after seven years of searching for a diagnosis, I had to pass on this devastating news to my parents and four younger siblings. As it turned out—such a pale phrase for the fall of a family—of my parents’ six grandchildren, four have the full mutation and are either mentally retarded or have learning and emotional difficulties.
At noon I give up the struggle with my keyboard and go downstairs to sit on a bench in the library’s lobby and eat my sandwich. Suddenly a gangly young man exits from the door to my left with two feather dusters in his hand. He gazes intently out the front door of the library, but turns left and disappears from view, only to emerge again empty-handed and go back into the library. It is my eighteen-year-old son.
J. P. goes to a special program housed in a high school in a neighboring town. The TEC Learning and Vocational Center places its students in volunteer jobs in various settings, with an eye toward discovering their future vocational placement. This year, his senior year in high school, J. P. works twice a week for two hours at a time in the Children’s section of this library. I knew he was here today, but seeing him out in the world, unaware of my gaze, I have a startling sense of the future. After lunch, I peek around the corner where he had gone before. The door says “Custodial Closet.” I walk back upstairs to resume my writing. Somewhere on the floor below me, my son is dusting the books.
When J. P. was first diagnosed with Fragile X syndrome, and I realized that it came from me, not his father, I tried to summon up guilt, but found myself verbalizing something that frankly I didn’t feel. I know a lot of Fragile X mothers feel guilty for having passed on this gene to their kids—I’ve read heart-wrenching admissions of this on the Fragile X listserv—but I’ve never let myself take on that burden. I feel I’m a victim of this as much as J. P. It’s not like I snorted cocaine while I was pregnant or knowingly worked at a hazardous job. All I did was conceive him, and that was enough to set into motion the tumbling unfolding of DNA that did us both in.
Seven months after the diagnosis I wrote my father a letter trying to articulate how I felt about the notion of guilt. My parents did not get tested at that time, as our family history didn’t seem to require that we discover the source of the mutant gene. My mother is an only child; my father has but one sister, and her children—my cousins—and their children seemed perfectly normal. However, all signs pointed to my father as the source of the mutation. That is because my brother, who had received a Y chromosome from my father, was the only one of the five of us spared the premutation. The four of us girls, who received an X from each parent, were all carriers. I worried that my father felt a burden that he should not have to bear in addition to a grandfather’s natural grief at his grandchildren’s fate.
In the letter I assured him that “blame” was the last thing on any of our minds, my sisters and me. “The glory and the harshness of genetics is that there is no picking and choosing,” I wrote to my law professor father, my intellectual role model. “We are a composite, with all that means for success and failure, health and illness, strength and weakness, joy and pain. I look at J. P. and yes, I see his disabilities, but I also see talent, charm, and character that also came in that genetic package. I look at myself, and, while I grieve over my reproductive damage, I am much more than a potential mother. Some of the things I like best about myself, that I take the most pride in, come from you, Dad, your genetic contribution to my identity.”
But what I didn’t count on as I wrote this letter in October 1993 was that with J. P.’s diagnosis, I would be tarred with the same brush. No sooner was the DNA test for Fragile X carriers discovered in 1991 than scientists were off and running to investigate whether these carriers showed differences from their “normal” peers, whether they were “affected,” a word I can never look at in the same way again after our diagnosis. And it was “our” diagnosis, not just J. P.’s, but his three cousins’—and yes, mine and my three sisters’ and one of our parents’. That’s the peculiar heartbreak of the Fragile X diagnosis; it is not unique to the “proband,” as they call the first person to be investigated in the genetic study of a family. It’s contagious.
In the first two years of J. P.’s life I didn’t work outside the home, leaving behind my university teaching for the luxury of immersion in motherhood. But the days were long and lonely, and J. P. was a skittish, easily over-stimulated baby. I blamed myself; after all, I was high-strung, more likely to read a book all day than seek out crowds and physical challenges. Perhaps my baby was mirroring my own personality.
J. P. hit each developmental milestone in the baby books a little later than the one before. He sat at seven months, very close to average, but he did not crawl at all until two weeks before his first birthday, and then stood in his crib for the first time that same week. Now we were in a much grayer zone of normal. His body, even to this first-time mother, seemed floppy, in constant need of propping or holding, but when his muscles weren’t flaccid, they were fiercely tensed. He would quiver with excitement, stiffening his legs and arms, a gesture which I read as a charming excitability, but which I did not see in the children of my friends.
Most frustrating to me was that at eighteen months, my baby spoke no words; he had a few sounds, but did not babble. Instead he screeched a lot, high-pitched shrieks that unnerved me and sent me running to try to figure out what he needed. Even at four years old, J. P. had only ten to fifteen sound patterns with consistent meanings (not quite words, but parts of words), and he continued to shriek at random intervals.
J. P. did not play with toys so much as move them mindlessly around, throw them, mouth them, break them. His attention span was measured in seconds, not minutes. He had a low frustration level and was easily overwhelmed. We joined a play group, and the contrast between J. P.’s skills and the other toddlers was so obvious that I began to face what I had been stolidly denying: my son was not normal. And behind that brick wall—the dead end of every mother’s fears—I imagined another prospect: maybe I was not like other mothers.
Eighteen months after Fragile X entered my family’s vocabulary, when J. P. was almost nine, two of my sisters and I attended a conference of the National Fragile X Foundation, a biennial event that draws researchers, medical personnel, and parents from the United States and many other countries. We were determined to learn all we could to understand this complex and devastating condition that had ravaged our family. In June 1994 the conference was held in Albuquerque, New Mexico, where Maggi, Ann, and Ann’s husband, Charles, flew from St. Louis and I flew from Boston. At that time Ann had a two-year-old daughter with Fragile X, and Maggi had two children, a six-year-old boy with no mutation and a four-year-old girl with the full mutation. Maggi and I shared a hotel room, so I spent most of my time at the conference with her.
Maggi was starting medical school in the fall, and was particularly eager to attend the sessions geared toward scientists and doctors. I was interested in these, too, though I had never taken any science in college but biology for poets. At a lunch break on our first day at the conference, we strolled through a large meeting room hung with posters. One of the posters announced a study of carrier females. “That’s us,” I exclaimed with surprise. The researchers had set out to investigate whether females with the premutation suffered a higher rate of depression than their typical and non-FX peers. And guess what? They did. “Duh,” Maggi and I said to each other. Raising a child with Fragile X made you depressed. Gee, that was a no-brainer. We walked on.
But, to tell the truth, that poster hit a nerve. I had received the news that J. P. had Fragile X syndrome at a terrible juncture in my life. Just eight months before the diagnosis, my husband, Harry, and I had separated. Since that time and even as I dutifully took notes at this conference, I had been gradually unraveling.
I come from a Catholic family in which divorce is almost as serious a sin as murder. My parents had supported me unquestioningly in my pain over Harry’s decision to end our marriage, but I felt as if my life would never recover from the shame of losing my husband and disrupting our child’s life. Although in the eighteen years that I spent with Harry, as girlfriend and wife, I wasn’t happy in some basic way, I didn’t have the insight or will to change my life. I had numbed myself to earlier dreams—of writing, for instance—even though Harry ostensibly encouraged me to pursue them. I do not blame my husband; I blame myself entirely. I was hiding out from life, afraid to try my hand at success. Shortly after Harry’s leaving, I began to see a therapist to push my way through the tangle of feelings that overwhelmed me. The talking was clarifying and liberating. But if my mind was enlightened, my body didn’t get the message; it betrayed its allegiance to other codes.
I wasn’t sleeping well. J. P. went to bed at 7:30 on weeknights, and on the weekends he went to Harry’s. I was alone night after night in our huge house on a cul-de-sac. The summer of the Fragile X conference I found myself staring out the window of my upstairs hall one hot night. In the dead suburban silence a bird called out—a species I couldn’t identify—and his mate, for surely it was his mate, called back. It went on for minutes, this eerie and beautiful call and response. I knew that no one would answer my call on the dark, deserted street. My family lived in St. Louis, and I had few friends nearby, almost none who were single, as I now inadvertently found myself. I ate little, and with a logic as inexorable as the genetic verdict I had received, the pounds dropped off me till my bones showed.
Losses of a more metaphysical sort had mounted in the months leading up to that summer, and by the time of the conference the pile was threatening to tip. In the two years before J. P. was diagnosed with Fragile X, Harry and I had lived through a series of disasters, starting in March 1991, when Harry’s mother was diagnosed with terminal pancreatic cancer. In April of that year my cousin Steve, at age twenty-six, succumbed to a long battle with melanoma. Besides our family, our friends were also beset with troubles during that year: in August my best friend, age thirty-nine, had a mastectomy, and in September friends, so close we had accompanied them on their honeymoon, divorced. The new year was just as awful: in the winter of 1992 my mother contracted a serious case of shingles, and then in March of that year my father was operated on for colon cancer and began a year of chemotherapy. Finally, in April 1992, after a year’s submission to chemo and morphine, Harry’s mother, a powerful force in all our lives and a strong proponent of J. P., passed away.
Though Harry and I were in our thirties, up to then we had not yet known life—and death—so intimately. And if separating from Harry the month after his mother died was devastating, the visit to the geneticist the following March sealed my heart. That day I lost all hope of future children and grandchildren. When on December 8, 1993, Harry and I went to court to finalize the divorce, I didn’t see how things could get much worse.
You could say I got my depression the old-fashioned way: I earned it. I didn’t inherit it, or at least that’s what I thought.
When I read that poster on depression in Fragile X carriers, in a hotel in Albuquerque, I was, to all eyes, a vivacious, plucky single mom, educated, in control of her life. My writing students at Boston College that following fall surely thought so; their course evaluations touted my enthusiasm and upbeat personality. Yet behind this persona, in the still center point of my contracting world, a woman wept. At home, away from the university, from friends and acquaintances, I would collapse at the end of the day, tired of smiling and talking. I would put my child to bed, fix a manhattan, and when the phone rang, I would sit in the dark, unable to pick up the receiver. I was crying many times a day, I was extremely irritable with J. P., and I felt hopeless. My therapist was attempting to convince me that I would benefit from antidepressants, but I resisted, stubbornly believing that I could do this alone.
Heading for the big 4-0 on September 12, I racked up one more on the list of “Major Life Stressors” when I moved, on Labor Day weekend, from the house Harry and I had shared into a new, smaller house. Before the move I sold all the baby furniture I had hoarded in the attic over our garage, a virtual storeroom of yuppie consumption: the crib, the swing, the changing table, the playpen, the walker, the high chair, the car seat, the rocking infant seat. I would not be needing any of these again.
It all came to a head in the hardware store. Scrambling to set up a house for J. P. and me and our two cats, overseeing painting and repairs, I went one day to buy new shades for J. P.’s bedroom. I asked a tall, ruddy, white-haired salesman if he could cut me a shade the same size as the one I held in my hand. “Not today,” he said mildly, “the machine is down.” With that, I began to cry. As the tears ran down my cheeks, he looked panicked, bewildered. I turned and ran out of the store.
That night I looked at myself in the mirror, and my eyes were flat and dead. My spark was out. I made the appointment, and on September 19, 1994, I saw a psychiatrist to get a prescription for antidepressants. I was depressed, and I was a Fragile X carrier. But was I a depressed carrier?
William Wordsworth, the great poetic investigator of feeling, wrote his Lyrical Ballads in 1798 to “follow the fluxes and refluxes of the mind when agitated by the real and simple affections of our nature.” In “The Mad Mother” and “The Idiot Boy,” two of his deceptively simple ballads, he set out to trace “the maternal passion through many of its more subtle windings.” The Mad Mother is a homeless woman whose husband has deserted her and their baby. Her grief has driven her mad, but her passionate love for her baby saves her from throwing herself over the cliffs into the sea. Mother and child are a symbiotic pair:
The babe I carry on my arm,
He saves for me my precious soul;
Then happy lie, for blest am I;
Without me my sweet babe would die.
Her greatest fear is that she has passed down her madness to her son, and she strenuously denies her part in his “wildness”:
Alas! Alas! That look so wild,
It never, never came from me;
If thou are mad, my pretty lad,
Then I must be for ever [sic] sad.
Where does the mad mother end and the idiot boy begin? This question, it turns out, intrigues many of those men and women who research Fragile X syndrome. In any genetic diagnosis, it is natural to turn to the oak after you’ve examined the acorn. But that tree is not just an acorn-producer. It is shade and rustle and the silhouettes of limbs against a winter sky. The oak may be oblivious to the human eyes that define it (the botanist’s or the artist’s), but a woman feels those eyes on her face. She either blushes or raises her head in defiance and walks on.
As the conference continued, Maggi and I began to get hints that we who went to the conference as “mothers” were seen by those who researched Fragile X as “carriers,” and some of them suspected we were not immune from the effects of the premutation. Maggi and I often split up and went to different sessions—she to “Molecular-Clinical Correlations” and I to “Why Does My Child Do the Things He Does and How Can I Help Him?”—but at some point we were sitting in the same session when a group of women in the back of the room began to refer to themselves jokingly in ways that they saw as carrier traits, like a short attention span and not being good with numbers. This was the first we had heard of these cognitive manifestations of our new identity, and we were aghast. Focused on how to help our children, we were not prepared to see ourselves as impaired, too.
That night back in our room Maggi turned to me. “This explains it!” she squealed. “I have ADD! I can’t keep my mind on what I’m studying!” I was appalled, but a little amused, too. “Don’t even go there,” I said, with emphasis. “For heaven’s sake, you graduated with honors from college. You’re a medical student. You manage a household and two children. You couldn’t have ADD. We are OK! There is nothing wrong with us.”
In fact, in 2003, researchers in the Netherlands concluded that a subgroup of female premutation carriers did perform poorly on several selective attention tasks, but they noted that research on whether or not the FX premutation is associated with a particular neurocognitive phenotype has been generally “equivocal.” That word sums up the ambiguity of my sisters’ and my situation; looking for signs of “difference” in people like us, the FX research community has done dozens of studies on carriers, both female and male, but have come to differing conclusions. While there is growing evidence that a small minority of carriers suffer some learning differences and subtle emotional problems, the samples studied are often small and the data contradictory. Words like “anecdotally” and “persistent reports” crop up in the scientific literature, betraying the elusive nature of the facts in this area.
A case in point. One in five women will suffer depression at some point in her lifetime, according to the National Mental Health Association. That is why it is important to be leery of statistics gleaned from studies in which a few dozen carrier women are examined for their incidence of depression. One study in 1994 looked at four groups of women: two control groups without Fragile X, one of which grew up in an FX family and one not, and two DNA-positive groups, one with a premutation and one with the full mutation. There was no difference between the groups in terms of the lifetime incidence of depressive and anxiety disorders.
On the other hand, a study published in 1996 examined thirty-five mothers of children with FX (twenty-nine of whom were premutation carriers) in comparison to two control groups: thirty mothers of children in the general population and seventeen mothers of autistic children without FX. Researchers found that premutation carriers had a higher frequency of affective disorders than mothers from the general population, and—cognizant of Maggi’s and my observation that raising a kid with FX could indeed make you depressed—the researchers noted that the age of onset of “psychiatric morbidity” was much earlier than the age when the mothers learned of their child’s special needs, so the burden of raising such a child could not account for the three-fold higher frequency of affective disorders that were found in carriers.
I was unexpectedly introduced to another of the “affective disorders” under scrutiny in carriers when in May 1995 Harry and I flew with J. P. to Colorado, to the Fragile X clinic at Denver Children’s Hospital. Even though we were divorced, Harry and I made this long, expensive trip together from Boston because we wanted our son to be seen by Dr. Randi Hagerman. While in Albuquerque the year before, I had met Dr. Hagerman and many of the team of professionals she had gathered around her at the clinic in Denver: genetics counselors, occupational and speech therapists, educators, psychologists, all working in the field of Fragile X, expertise which we certainly hadn’t found in Boston. Denver was the mecca for Fragile X families, and Randi (as all the FX families called her) was its goddess. (Indeed, at a Fragile X conference years later, Maggi and I saw her get into an elevator, surrounded by her handsome husband Paul Hagerman, a molecular biologist who also studies FX, her two children, and her elderly parents. Maggi turned to me and chuckled, “This is too much! She’s not only brilliant and beautiful, but she’s good to her parents, too!”)
Dr. Hagerman is a developmental and behavioral pediatrician, a skilled clinician who radiates affection for those individuals with Fragile X. Harry and I watched with delight as she examined our son, who was running away from her, refusing to look at her, flapping his hands and barely intelligible. She so clearly “got” J. P.’s sense of humor, and she took in stride all the behaviors that had flummoxed other doctors because she had seen hundreds of other boys just like him. It was a relief to be, finally, in a place where we could get answers about a condition that usually was met with “Fragile WHAT?”
Randi charmed me, too, that day with her observation that many of the carrier mothers she had met she had found to be unusually articulate and verbal. But she also mentioned a study that had found an increased level of worrying in carriers. I resonated with this particular trait, remembering how, even as a child, my mind worked on overdrive when I was faced with a new situation.
After we left Randi, Harry and I sat down with Louise Staley-Gane, a genetics counselor in the clinic. For the second time in my life I saw my family laid out on a genetic chart. This time Harry’s family was also surveyed: father, mother, brother, each with any particular diseases they had suffered—cancer, psoriasis. But with my family the notations seemed to target psychological foibles; though my father had had cancer (twice, at that point), the only notations next to his name besides his occupation, law professor and labor arbitrator, concerned his tendency to worry and his quick temper. My sisters and I also were labeled as to whether we tended to worry. Besides being a worrier, I confessed to mood swings and recent depression. Harry’s notations said simply “lawyer” and “high blood pressure.” Wasn’t I a college lecturer with a Ph.D? But maybe that wasn’t relevant here.
Suddenly Louise asked me, “Can you leave the dishes in the sink after dinner, or do you feel like you have to jump up and wash them?” Startled, I thought about it briefly, and admitted, “Well, I’m no great housekeeper, but I guess I do feel compelled to do the dishes right after dinner.” I sat there uneasily, all too aware that my former husband was sitting beside me. Suddenly the diagnostic gaze was on me, not on our son. Louise was only doing her job, but the questions made me self-conscious. How about my fingers, she asked. Was I double-jointed? Sheepishly, I pulled back each thumb in turn; they popped out at a right angle to my hand. Feeling mildly freakish, I wondered, not for the first time, how I had ended up in this place—literally and figuratively.
Having hyperextensible joints is not exactly the end of the world. They come in handy for yoga, for instance. But another physical feature of some sixteen to twenty-five percent of carriers is premature ovarian failure, or POF—in laywomen’s terms, early menopause. My first thought when I heard of it at the Albuquerque conference was that this sounded like a good thing, though ten years later, as I near that stage myself, I realize the havoc menopause can wreak on your body.
As luck would have it, one of the women who currently cares for my son, now age nineteen, is a Fragile X carrier herself. Maria has no children, but has a nephew with Fragile X. One day I came home from work in a particularly foul mood and said casually, “Boy, do I have PMS!” She didn’t answer, and I went on, “How about you? Do you ever have days when you feel like you want to murder someone?!” She paused. “No,” she said quietly, “I don’t get PMS. I went through menopause at twenty-two.” At that startlingly young age, she had had to take hormone replacement therapy and suffer the gamut of what menopause can do; she was devastated, too, because it meant she could never have a child.
Besides premature menopause, the premutation is alleged to do other things to the carrier body, occasionally blossoming in long faces or prominent ears, traits that individuals with the full mutation sometimes have. Maggi and I had once taken our kids, not long after our FX diagnosis, to see a re-release of Disney’s original Snow White movie. Looking at Dopey, his tremendous ears flapping, Maggi turned to me and snickered, “Looks like a missed diagnosis.” We had imagined that we were Snow White. Were we now bidden to check behind our hair for Dopey’s ears? (But why look that far? In 2003 a study was published that analyzed the hair roots of carriers as predictors of cognitive functioning.) This is not to make light either of the pathos of our children’s impairments nor the exquisite investigations of dedicated scientists. It is—with the black humor that sustains my sisters and me—to speak for the amoeba under the microscope. Call it an unexpected blurt of sentience from the presumably inert.
In his junior year in high school J. P. mainstreamed in an honors English class, with the help of an aide and an extraordinary teacher. When the class studied Shakespeare’s Othello, the students put on a skit and gave J. P. the nonspeaking part of the dead Desdemona. He lay sprawled dramatically on the floor, but when one of his “typical” classmates forgot his lines, my son sprang up, the corpse come to life, and shouted the words that they could not remember.
Do you know what it feels like to go all your life seeing yourself as a top student, the life of the party, the subject who views the world on the terms she sets, only to wake up one day to find yourself the object of a scientific gaze? This is different from being a patient, examined physically for an emergent medical problem. It is to rewrite your past and to cast a shadow over your present—to have your every behavior, your every mental process, scrutinized for pathology.
At the time I first heard these suggestions about carriers, I was only a year and a half from my son’s diagnosis and newly divorced after spending half my life with one man. I was not prepared for any more assaults on my identity. Clare Dunsford had become Clare Manion had become Clare Dunsford again. Suddenly I was asking who really was Clare Dunsford at thirty-nine, and for that matter, who had she been at nineteen, or nine? Was it possible that I had some incipient version of the syndrome my son had?
My doctoral dissertation in English, written while I was pregnant with J. P., had examined the influence of evolutionary terms on the poems of the nineteenth-century Jesuit priest Gerard Manley Hopkins. In the terms of the evolutionary debate that fascinated Hopkins, had the catastrophe in my family really been sudden, or had it been gradual, sneaking up on the new generation in the unmarked moments of the old? Memories flood in, cast in a different light: the little girl who made herself sick with worry over gym class in grammar school, the teenager whose moods swung up and down so much that her journals seem to have been written by Ms. Jekyll and Ms. Hyde, the young woman who struggled both to start and to complete that doctoral dissertation.
Gerard Manley Hopkins was drawn to brood long and hard over his own identity. As a child he asked, “What must it be to be someone else?” It is the ultimate mystery, this question of what sets me apart from everyone else. Where are the boundaries that make me perhaps neurotic but not insane, not a genius but not mentally retarded? Are they found in a set of numbers counting a stretch of base pairs? Is there a threshold of abrupt change at two hundred repeats, or as the chain gets longer does it drag, ever so gradually, on a person’s brain?
The questions I ask are only possible in the wake of Darwin, who claimed the living world for the principle of gradual change. DNA is the chain that drives that change, its mutations the pathway to variations in species. Genes are digital, not analog agents, discrete nubbins of information, each with its own idiosyncratic power. However, the effect of genetic knowledge has been to elide originality and individuality in favor of a tendency to find identity in those who have come before you. It is the threat that Darwin posed that made Hopkins so concerned with settling the problem of identity once and for all in favor of originality. As a young woman, I had been led to study the influence of evolutionary concepts on Hopkins by an affinity deeper than I knew: a romantic predilection for uniqueness and a religious belief in miracle. Now in my own crisis of identity I resisted a theory of myself as one in a line gradually devolving toward extinction.
The most recent research on Fragile X carriers operates on the assumption of a genetic continuity that results in a spectrum of involvement, with the full debilitating symptoms arising in the full mutation, but some hints of them found in some of those with the premutation. The hypothesis is that the amount of FMRP—Fragile X mental retardation protein—produced by those with a higher number of repeats is diminished, creating some of the impairments of those with the full mutation, who produce no FMRP at all. Interestingly, current research on autism, a disorder related to Fragile X in some of its symptoms, is also focusing on its presentation on a spectrum of severity, with parents of autistic children showing some subtle autistic-like traits, presumably caused by shared genes. My child did not appear out of nowhere, but was looked for in the genes that I passed on. In the brave new world of genetics, ask not for whom the diagnosis is meant; it is meant for thee.
The truth is, I can’t figure out if my mind roams around more than yours, or if my writer’s block is some sort of deficit in executive function caused by my DNA. I have no point of reference. Like Hopkins, “I taste self but at one tankard, that of my own being.” I do not know what you feel like when you write or worry or feel anger. I can only know our effects in the world, you and I: the books we write, the words we say, the feelings we elicit in those around us. The effort it takes to achieve those effects is usually invisible to the observer. It’s fair to say that life is challenging for both you and me, but probably in differing and highly personal ways.
What I do know is that we are more than our DNA, more than what we “carried” into the world. We establish our identities in concert with others at the level of the family, the school, the city, the nation, the world. Nurture presides over us along with nature, and seasons the self that we taste in ways we could not have imagined at birth. I am made of my mother and my father, and my grandmothers Nanny and Bumbie, but I am also the creation of my childhood best friend, Mary Ann, and Sister Mary Stephen, the first-grade teacher who taught me to read, of the St. Louis humidity and the study tour of Europe I took in high school, of the moon landing and President Kennedy’s being shot, of the men I’ve loved and the poems I’ve studied, of yesterday’s quarrel and today’s embrace.
My sister Ann, after the diagnosis of her older daughter, worked for a time in the Frank Porter Graham Child Development Center in North Carolina, one of the leading centers in the United States for research on Fragile X. Ann, like Maggi, graduated from college with honors, and has a masters degree in school and child psychology. Besides being highly intelligent, she is vivacious, beautiful, and has a steady, strong temperament. You’d trust her with your life. She told me that once she was at a meeting with the staff of the clinic and they began to talk of carriers in clinical terms. My sister suddenly felt self-conscious, as if her competence were being questioned. Of course it wasn’t in any specific way—when she left the job to spend more time with her daughter, the clinic begged her to stay—but she felt the sharply uncomfortable feeling of being categorized. And for what? For a gene on her X chromosome that, had she had no children, would never have come to light.
Is it hubris to resist being labeled? If it is, I plead guilty. Not every carrier resists the label. Some welcome the sense that their idiosyncrasies, their particular learning styles, have an explanation. Some can erase a kind of survivor guilt that plagues them for passing on this gene to their children by seeing themselves, too, as somehow impaired. All of us who are FX carriers have to navigate this passage in our own way, and support each other in the effort. As the years have passed and I’ve made some peace with Fragile X, I have become more ambivalent about its influence on who I am. While I resist it as a defining label, at times I take pleasure in the ways in which this fact about my genetic heritage seems to excuse some of what I’d like to disown: relentless worrying, a volatile temper, a vulnerability to sadness.
In the end we who carry the carrier label can gain compassion for what our kids must feel like to be objectified as “fraggles,” not to mention acquiring a hard-won humility in recognizing that we all—you as well as I—“carry” a ragtag bag of characteristics that mark us as human. Some of our baggage carries identification tags, and some of it does not. As Louise Staley-Gane told me that day in Denver, everyone has six to eight genes that are potentially problematic. I just happen to know the name of one of mine. Maybe one day you’ll have a name for yours.
For a few years I thought that, like the “Mad Mother,” I would be “for ever sad.” The weight of what I carried pulled me down, “the heartless simplicity of the CGG repeats” (as Matt Ridley puts it in Genome) carved in the stone of my heart. I could not deny my son’s “wildness” came from me, that without C there could be no G, but I could chafe against the tightness of the bond. I began to push back, and in my resistance I began to find myself again.
While we were in Albuquerque, Maggi and I took a side trip to Santa Fe, a welcome respite from clinical descriptions of our children and ourselves. The clear yellow light and the glittering blue sky left us pleasingly disoriented as we wandered through a Native American outdoor market. Eventually we went into a building, climbing the stairs to a second-floor arcade, surprised to find ourselves slightly breathless in the unaccustomed altitude. In a gift shop there I was attracted to a note card with a picture of a weeping woman: “La Llorona,” it said on the back, “a Hispanic legend.” I bought the card and when I returned to Boston, sent it to Maggi with a note telling her how glad I was that we had had the opportunity to share the conference together. I ended by saying, “Of this card—the Weeping Woman—I just want to say that I hope that we can give over our tears to the life-giving project of raising our children, not drowning them, with all the love and strength we can muster in the years ahead.”
La Llorona’s identity is a contested one, though I did not know it at the time. She is the heroine of a Southwestern folk tale, probably originating in Spain, who appears in many guises. In most versions of the tale, La Llorona is a beautiful young girl who is betrayed by a man and drowns their children in revenge or in frustration, the Mad Mother if you will. In various accounts she appears as either murderer or victim, witch or innocent young girl, harlot or virgin. What endures in every telling of the tale is this: La Llorona mourns the loss of her children. Her apparition, with its keening cry, haunts the banks of the river. Whatever you choose to see in her, have compassion. She is your mother, your daughter, your sister. Maybe . . . she is you.