GENEWATCH
 
BOOK REVIEW: GENETIC ROUNDS
By Andrew D. Thibedeau
 

I

Narrative

"Narrative deals with experiences, not with propositions."1

- R.W.B. Lewis


In Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine,2 Dr. Robert Marion undertakes to illuminate "the human side of the genetic revolution."  The book consists of a series of narrative essays, sporadically interposed with necessary biomedical exposition.  His writing style is informal, giving his text a sense of intimacy.  Looking back on thirty years in the field of clinical genetics, Dr. Marion offers a refreshingly personal account of certain patients, families, and diseases he has encountered along the way.

The first striking feature of Marion's text is its emotional transparency.  No effort is made to conceal pain or suffering, neither his patients' nor his own.  This latter point contrasts sharply with the physician of our cultural imagination.  That image-the physician-as-scientist, detached, objective-is in truth a vestige of a now-defunct clinical methodology. Originating in the 19th century, this "traditional method" held as its chief aim "to diagnose a disease rather than to understand a patient."  Predominant until the later 20th century, it placed no emphasis on comprehending "the meaning of the illness for the patient" or placing that illness "in the context of the patient's biography or culture."1

Unlike his iconographic forbearers, Dr. Marion's emotions are integral to his clinical practice.  More importantly, the progression of experiences and relationships he details expose the cultivation of his clinical technique.  It is here that Dr. Marion's book assumes a double aspect.  In one sense, his text presents a collection of "classic" bioethical scenarios.  Confronted with prenatal diagnoses of Down syndrome, women choose to keep or terminate their pregnancy.  Decisions about infants with terminal defects are made. Families cohere or fragment upon the outcomes of molecular analyses.

In another, more significant sense, Dr. Marion's essays offer a perspective from which one can encounter an evolving paradigm in clinical medicine.  To understand this second, more subtle discourse, one must begin to contemplate patients' subjective experiences of illness and its constitutive function in patients' biographies.

II

Illness

"Illness is the night-side of life, a more onerous citizenship."4

- Susan Sontag


Illness, disease, and death are elemental human experiences.  But they are not experiences we share: rather, they comprise "the night-side of life," constructed in opposition to health and wellbeing. Within the dominant Western cultural tradition, identity is conceived through a process of differentiation.  We see ourselves as distinguished from that which is different, and in so doing inscribe that difference with fear and danger-the practice of othering.5 Illness can thus be understood as a strategy of identity, a means of dividing the healthy Self from the unhealthy Other.6

Traditional clinical methodology, by emphasizing detachment and reducing patients to objects for study, reinforced this dichotomy.  Though illusory, cultural stigma marked the genetically defective and biologically deformed as beyond the realm of the human.  For the ill and disabled thus banished to permanent alterity, their disease was no object for the physician-scientist's analysis-it was the uninvited determinant of identity.

In his essay "The Skeleton in Mr. Anderson's Closet," Dr. Marion describes this practice of cultural banishing as experienced by Carl Anderson.  The two men met when Dr. Marion was consulted regarding Mr. Anderson's newborn daughter.  Both the infant and her father suffered from Marfan syndrome, a hereditary disease that causes pronounced skeletal distortions and near-certain death at midlife.

As the infant's physician, Dr. Marion and Mr. Anderson talked regularly.  It was during one of these conversations that Carl Anderson shared his biography with Dr. Marion.  Since early childhood, Carl had been marked as different by his fellow children.  Taunted with names like "spider boy" and "scarecrow" on account of his elongated limbs, Carl felt "torn apart inside" and would invariably retreat to his bedroom to cry alone.  Shouts of "freak" and "ugly" followed Carl as he entered school, where verbal abuse quickly turned physical.

Neither his parents nor his teachers knew how to cope with his illness, and from his perspective they "never gave a damn." In time, Carl attended school less and less, until he stopped going entirely.  When he met Dr. Marion, he worked as a clerk at a candy stand in New York City.  Ashamed of his appearance, he married a woman who was blind, never revealing his condition until their daughter's birth. "The cumulative effects of having an inherited disease," Dr. Marion laments, "touched every aspect of Carl Anderson's life."7 Mr. Anderson's biography was not his own; it was written for him by molecular happenstance and the cultural practice of othering.

What is remarkable about this story is not that Carl grew up, married, and had a child-though given his disease these were certainly momentous occasions.  What is remarkable about this story is Dr. Marion's eagerness to engage Carl intersubjectivly-not as a mere patient presenting a disease, but as a complete person.  These aspects of Carl's identity would have been immaterial to the "traditional" clinician; but to Dr. Marion they offered a window onto Carl's subjective experience of his illness.

"The age-old, seemingly inexorable process whereby diseases acquire meanings ... and inflict stigma is always worth challenging," wrote Susan Sontag in AIDS and Its Metaphors, "and it does seem to have more limited credibility in the modern world, among people willing to be modern."8 The intersubjective relationship that Dr. Marion cultivated with Carl Anderson stands as a challenge to the cultural stigma of illness and the attendant suffering of the Other.  What's more, it illuminates an emerging paradigm in the doctor-patient relationship, a paradigm rooted in narrative.

III

Humanity

"One of the essential qualities of the clinician is interest in humanity, for the secret of the care of the patient is in caring for the patient."9

- Francis W. Peabody


The relationship between Carl Anderson and Dr. Marion was by no means inevitable.  Disease and deformity "can evoke feelings of fear, anger, disgust, and horror not only in the non-ill, but also in physicians."10 What's more, "[c]onventional medical training teaches students to view medicine as a science and the doctor as an impartial investigator."11 Imagining an "empirical" distance between herself and her patient, the physician often initiates the doctor-patient encounter from a stance of difference.  If the practitioner does not act quickly to close this distance, "a profound emotional gap can develop between healer and sufferer as a mechanism for boundary maintenance."12

As trained scientists, practiced in assuming detached professional mannerisms, many physicians are unaware of these subtle discourses of differentiation.  In this way, the physician-patient relationship can become marked by the same process of othering that, in the extreme, led to the complete colonization of Carl Anderson's identity.  In the field of clinical genetics, where the ultimate diagnostic process is conducted at the molecular level, technology itself can widen the gap between doctor and patient.  The miracle of genetic technology notwithstanding, its pervasive mechanistic idiom "runs the risk of reducing the patient to a disease, an object."13 Dr. Marion painfully recalls one overnight shift early in his career that had left him "more frazzled and more hostile than usual."  "In retrospect," he laments, "I'm ashamed to say that during that night I wasn't thinking of any of my charges as human; rather, they were nothing more to me than inanimate objects."14

The text leaves the reader to infer that this experience-and perhaps others like it-transformed Dr. Marion's understanding of his relationship to his patients.  Discounting the impulse to objectify patients, he instead actively cultivates a heightened sensitivity to the human dimensions of his practice.  Dr. Marion's attention to the human aspects of medicine is evident in his essay "No Sweat!"  There, he recalls his encounter with six-month-old Daryn Jordan, who in the previous weeks had progressively lost his mobility and become "floppy as a dishrag."  Daryn's primary physician, Dr. Reynolds, had asked Dr. Marion to provide a genetic consultation in the case.  Suspecting a potentially fatal degenerative neurological disease, Drs. Marion and Reynolds marshaled a full arsenal of biomedical machinery, aiming it at Daryn's tiny, floppy form.  In quick succession Daryn's body was scanned by MRI, his brainwaves recorded with an EEG, his eyes probed by ophthalmologic instruments, and his spinal column pierced by a three-inch hollow needle.  All of this, and Daryn's body yielded nothing: each test produced a perfectly normal result.

With nothing to show for their efforts, late in the afternoon on the day before the Fourth of July Weekend, Drs. Marion and Reynolds dispatched sizable samples of Daryn's blood to specialized laboratories in all corners of the country.  Unlike that afternoon's diagnostic frenzy, the results of these analyses would take weeks or perhaps months to surrender answers.  And months passed. Finally-unexpectedly-Daryn's mother called Dr. Marion to report that Daryn was recovering well and to thank him for his medical counsel.

Perplexed, Dr. Marion inquired with Dr. Reynolds about Daryn's condition.  Dr. Reynolds had seen neither Daryn nor his mother since they had left the hospital in July.  "There's really been no need to: all the tests came back normal," Dr. Reynolds explained to Dr. Marion, "I don't have anything to tell her."  Dr. Marion pressed the issue: "So you don't know how he's doing?"  "Not at all," Dr. Reynolds responded, "I assume by this point he's probably close to vegetative."15

Upon hearing that Daryn's mother had reported his condition much improved, Dr. Reynolds responded: "[a]nd tomorrow, I'll be retiring to the villa I'm planning to buy in the South of France."  He continued: "Sounds like heavy denial ...  [u]nfortunately, it looks like this is going to be one of those cases where the diagnosis isn't made until we get a look at his brain on the autopsy table."16 Although sharing some of Dr. Reynolds's skepticism, Dr. Marion was unwilling to remain idle, awaiting a summons from the morgue.  Rather, he scheduled an appointment with Daryn and his mother for the following week.

Much to his welcome surprise, Daryn had indeed made substantial progress.  In the ensuing conversation, Dr. Marion was able to piece together previously unknown features of Daryn's illness.  Instead of a degenerative neurological disorder, he suffered from a genetic mutation depriving him of the ability to perspire.  In the summer months, his resulting inability to cool himself produced his languid demeanor.  His illness now named, Daryn could proceed to develop as any other toddler, provided sufficient air conditioning.  "And like a flower," Dr. Marion proudly observed, "Daryn Jordan blossomed."17

Dr. Marion's eventual diagnosis of Daryn was not the product of any transformative insight gained during his meeting with the boy and his mother.  He merely observed certain previously unnoticed features of Daryn's disease while simultaneously making the season-symptom connection in his mind.  What is notable here is not his diagnostic methodology, but the fact that Dr. Marion drew closer to Daryn at a time when his primary doctor had consigned him to the hereafter.

In much of the field of medical genetics, "[w]hile specialists spent more time wielding the mighty machine, they spent less time listening to or connecting with their patients."18 Despite Daryn's discouraging symptoms and unhelpful laboratory results, Dr. Marion reached out to the boy and his mother at a time of potential crisis.  Doing so-in the context of a profession profoundly mediated by technology-he relied on human connection rather than the mechanisms of his science. It is thus his affinity for personal closeness and pursuit of true human understanding with his patients that distinguish Dr. Marion - and his text - as "the human side of the genetic revolution."

 

Andrew Thibedeau, J.D., is a Fellow with the Council for Responsible Genetics.

 

Endnotes

1. R.W.B. Lewis, The American Adam: Innocence, Tragedy, and Tradition in the Nineteenth Century 3 (1955).

2. Robert Marion, Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine (2009) (Kaplan Publishing, 304pp., $24.95).

3. Ian R. McWhinney, Are We on the Brink of a Major Transformation of Clinical Medicine?, 135 Can. Med. Ass'n J. 873, 874 (1986).

4. Susan Sontag, Illness as Metaphor 3 (Picador 1990) (1978).

5. Johanna Shapiro, Walking a Mile in Their Patients' Shoes: Empathy and Othering in Medical Students' Education, 3 Phil. Ethics & Human. Med. 10 (2008).

6, Robert Crawford, Health as a Meaningful Social Practice, 10 Health 401, 414 (2006).

7. Supra note 2, at 181.

8. Susan S ontag, AIDS and Its Metaphors 182 (Picador 1990) (1989).

9. Francis W. Peabody, The Care of the Patient, 88 J. Am. Med. Ass'n 877, 882 (1927)

10. Supra note 5.

11. Trisha Greenhalgh, Narrative Based Medicine in an Evidence Based World, 318 Brit. Med. J. 323 (1999).

12. Johanna Shapiro, Self and Other Through the Prism of AIDS: A Literary Examination of Relationships with Patients, 4 Microbes & Infection 111, 115 (2002)

13. Supra note 10.

14. Supra note 2, at 67.

15. Supra note 2, at 161.

16. Supra note 2, at 162.

17. Supra note 2, at 161-62.

18. Jack Coulehan, Viewpoint, Today's Professionalism: Engaging the Mind but Not the Heart, 80 acad. med. 982, 893 (2005).

 


 
 
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