Speaking the Language of Fragile X Syndrome

Words scarcely convey what Clare Dunsford feels for her son, but she wants to give it a try

By Sean Smith Chronicle Editor

Month after month, year after frustrating year, Clare Dunsford waited for her son J.P. to talk, to say something, anything that resembled speech.
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College of Arts and Sciences Associate Dean Clare Dunsford with her son, J.P., who has Fragile X Syndrome, a hereditary condition which causes a wide range of mental impairments. (Photos by Lee Pellegrini)

Dunsford, an associate dean in the College of Arts and Sciences and a self-proclaimed "chatterbox," did not wait in silence. She spoke to J.P. constantly - "laved him with words" - and, as he grew from infant to toddler to school-age, she often found herself speaking for him.
But J.P.'s words came in the barest of trickles. There were some highlights: "mama" on his second Christmas, for example, and "cookie" a few months later. By the time he was 4, J.P. had only about a dozen words or word-like sounds in his repertoire, and the earlier reassurances of relatives and friends, and of pediatric neurologists who had examined him, rang hollow to Dunsford.
"If I heard one more time about Albert Einstein being a late bloomer...," recalled Dunsford in a recent interview, a wan smile punctuating her remark.
It was not until J.P. turned 7 that Dunsford finally learned that he had Fragile X Syndrome, a hereditary condition which causes a wide range of mental impairment, including mild learning disabilities, short attention span, speech and language difficulties and severe mental retardation. According to recent estimates, the syndrome occurs at full mutation in approximately one in 3,600 males, and one in 4,000-6,000 females.
Ten years after finding the answer, Dunsford is contemplating a new set of questions about J.P., now 17 and attending a public high school. But she also is reflecting on the things she's learned, about her son, herself, her family and the human condition, and seeks to share these revelations in a variety of settings.
"Having J.P. has enriched my life immeasurably," said Dunsford, who read an essay about her experiences at a conference on Fragile X last July, and is writing a book. "It's opened up my understanding of people and how they endure. I've met some incredible persons - other parents, therapists, activists - and I'm lucky enough to live with one, too. J.P. may always be a child, but he celebrates the little things and loves unconditionally."

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"Having J.P. has enriched my life immeasurably," says Dunsford.

There is much for Dunsford to celebrate, too, when she assesses J.P.'s progress. She talks of the many friends he has made during his school years - although he is in a special education program, he does participate in one regular class and in other school activities - and the tolerance and understanding so many of his classmates have shown him ("They were a thousand times more tolerant than their parents. J.P. has taught them so many things about themselves.").
She recounts how J.P., playing a non-speaking role in a class production of a scene from "Othello," constantly gave cues to his fellow actors when they flubbed lines. She describes his participation at Christmas Mass, and his enthusiastic response to the ritual "Alleluia": "That's right, guys!"
The speech for which Dunsford waited did flower in J.P., in fascinating, evocative, occasionally poignant ways. For all the developmental delays associated with Fragile X, vocabulary is typically a strength among children who have the condition, she explains. J.P. always loved the sound of words, and as he grew older his otherwise garbled speech would be peppered with words like "nauseous" and "ravishing."
Children with Fragile X find it difficult to answer a direct question and give answers that may seem puzzling, says Dunsford. J.P. often deals in metaphors, she says, calling the moon "a cinnamon cookie" as an eight-year-old, for example. Asked to describe a concept in terms of the five senses for an elementary school assignment, J.P. wrote that "wilderness feels like/ a rainy day/soft as a mealworm/safe from cars" and "tastes like/apples and/cockroaches."
Their everyday conversations can be anything but routine, Dunsford says. "Woe is me," he might sometimes intone over breakfast. Recently, J.P. would greet her at the door by asking her to identify herself, and ending the exchange with "Mommy who? The girl of my dreams? The one I love?"
To be sure, there are struggles. Because children with Fragile X are equally discomfited by physical as well as verbal directness, Dunsford has to carefully negotiate the household routine. Just getting out the door, she says, "can be exhausting."
But Dunsford says she tries to look beyond the immediacy of daily stress. Even imagining that there would be such a routine to follow would have been nearly impossible for her in the not-so-distant past.
"My life split open in a horrible way. I've cried buckets, I've torn my hair out, yet I've also felt so much pure joy. Now, I have a goal to find meaning in my experience, and also to speak for others who have gone through what I have."
The others include members of her family. Informing her parents and four siblings that she had been diagnosed a carrier of Fragile X "opened up a Pandora's box," she says. Two of her sisters already had children and her sister-in-law was pregnant, and "here I was telling them that there was a 50-50 chance of their kids having Fragile X." Three of J.P.'s five cousins were found to have the condition.
Delivering the grim news made a difficult time even worse for Dunsford, who had recently divorced J.P.'s father while still struggling with feelings of guilt over being a carrier. But she and her sisters "were an instant support group" for one another, she says.
As she set about finding the best care and educational assistance for J.P., Dunsford endeavored to learn as much as possible about Fragile X. As J.P.'s unique vocabulary developed, hers assimilated phrases like "CGG repeat," "replication fork," "FMR1" and other idioms associated with the field of genetics.
Some of these phrases serve as chapter titles in the book Dunsford is writing, an excerpt from which she read at the eighth International Fragile X Foundation conference in Chicago last July. The conference was attended by more than 750 doctors, research scientists and parents of persons with Fragile X.
Setting the story down on the printed page meant reliving the pain and sadness Fragile X has caused her, but it was a price Dunsford was willing to pay.
"Writing has always been a part of my life, especially as a professional in the academic environment," she said. "So through writing, I can make sense of my life, and explore the impact of this condition on J.P., on me and on my family.
"The book is, in part, an exploration of language in my life: the language of genetics, yes, but also the incredible language of J.P."
Dunsford credits the support network, including the Fragile X Foundation, for helping her cope with both the emotional and practical issues of raising a child with Fragile X. These resources will be critical as J.P. enters adulthood. Dunsford expresses hope of finding a supervised group living situation for him, but she also is concerned with his perception of himself as someone who, despite his gifts, is unlikely to lead the kind of life many of his fellow school friends will have.
"He's self-aware to the point that he doesn't identify with other special needs kids," she said. "He doesn't even like me to say 'Fragile X.'"
Inevitably, Dunsford says, she finds herself pondering a broader philosophical question.
"The dilemma is, how much do you change the person and how much do you change society? Gene therapy was supposed to be the magic cure that could make our kids 'better.' Now, there are therapies that focus on certain aspects. It's a loaded question for us. As the years have gone on, my prayer went from 'Make him normal' to 'Make me a better, accepting Mom' to 'Let J.P. have a happy life.'
"J.P. is just J.P. You're not just your genes but the accumulation of experiences. But that's not to say that, in a heartbeat, I wouldn't want the complexity of normality.