A bit belatedly, I’d like to point out that the winter issue of The Kenyon Review has a special section on ‘Literature and the Genome’. My colleague Myles Axton has an invited piece in the issue (“Midwife to the Wiring Diagram”), in which he describes his journey from Oxford to Nature Genetics, as well as some of his typically provocative views on the roles of editors and the state of the field.

The rest of the pieces in the issue are a mixed bag, but there is one that stands out as required reading. Clare Dunsford, Associate Dean at Boston College, has written a piece entitled “Base Pairs,” which chronicles the diagnosis of her son J.P. with fragile X syndrome, and the effect it has had on her and her family. Her essay movingly outlines her son’s health history, the devastating news that several of her nieces and nephews were also affected, as well as her own complex reaction to the news that her carrier status might—just might—explain certain aspects of her own behavior and personality (there is at least some published evidence that pre-mutation carriers have a higher frequency of depressive and anxiety disorders). She explains:

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 sister’s 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.

And later:

Do you know what it feels like to go all your life seeing yourself as a top student, the life of a 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.

I can’t do justice to Dunsford’s eloquence and grim humor here, which are infused with a love of the poetry of Gerard Manley Hopkins and William Wordsworth. Fortunately, the full essay can be read here, free of charge. And there is news of a full-length book in progress, to be called Spelling Love with an X: A Mother, a Son, and the Gene that Binds Them.

The NHGRI has spent quite a lot of money in its ELSI program, collecting hard data on the potential impact of genetic diagnoses. All of it will no doubt be informative. But clearly there is a place for narratives like Dunsford’s. Better than any survey can, it tells of the complex reverberations of genetic illnesses in the lives of actual people, of the difficulty in telling 'normal' from not, and of a mother’s love.