It's a question that sounds provocative, but it really aims at something simpler: the thin membrane that separates a parent's hunger for answers from two different figures—the physician as our Western culture understands him, and the shaman or healer of other traditions. For centuries, and even now in cultures we dismissively call "primitive," the shaman's role within the community has been to hold, with empathy, the suffering of the sick and their families.
Over the years, I found myself yearning for a doctor who combined both gifts—someone who could offer scientifically reliable answers and also be a father-like presence to bear my anguish. Often I found neither, learning the hard way—and at my daughter's expense—that nature does not always yield explanations. But I learned too that parents must become conscious partners in their dealings with doctors.
One of my first feelings was guilt. At three months old, Dafne was admitted to one of Italy's leading pediatric hospitals. No one could find the cause of her seizures or her terrible cardiorespiratory arrests. The geneticist called me in—smiling, gentle—and opened enormous reference books filled with photographs and descriptions of syndromes. Then came a strange interrogation: What was my family background? What kind of education? My credentials? My work? She was struck by my Oriental facial features—inherited from my father, not passed to Dafne—and had me compare them to photographs in the books. The subjects had oculo-digito-facial syndrome and moderate-to-severe intellectual disability. In a moment, my family's "exoticism" became a lethal genetic inheritance. Though this syndrome was quickly ruled out, as Dafne's condition grew more complex and diagnoses eluded us, the dysgenesis hypothesis pursued us through various consultations. Another memory carved deep: a geneticist at a prominent Roman hospital, comparing Dafne's symptoms to a series of charts (like a parlor game), finally announced "Rett Syndrome." To our questions came only vague answers and averted eyes.
"Many have observed Dafne. Few have understood her."
"Many have observed Dafne. Few have understood her."My husband found a description online that defied the darkest pessimism: the syndrome strikes females, causes progressive loss of fundamental skills, leads in most cases to death in adolescence. Only the "non-belligerence pact" among doctors kept one luminary from insulting his colleague outright when dismissing that diagnosis. Perhaps Angelman Syndrome? Another consultation with a renowned American geneticist, research at the only specialized center near Pisa, more tests and torment for Dafne and us. Nothing. No evidence. The risk percentage for future children varied wildly—anywhere from 4 to 25%, depending on the expert. It turns out that 40% of people with disabilities carry only a descriptive diagnosis.
This stubborn hunt for causes—to clear away nonexistent guilt and, above all, to guide more targeted rehabilitation therapy—came with relentless questions about Dafne's future: "Will she walk? Will she speak? What kind of life can she have?" In those early years, the specialists we saw—neuropsychiatrists, therapists, doctors—seemed to fall into two camps: one offered a kind of magic formula, clarifying little or nothing—"It's too early to predict; anything can happen with children"—and the other was proud of its bluntness, delivering the grimmest prognoses without softening. (You learn quickly to endure scientific terminology and to know the psychological weight of words, of how things are phrased.)
I also remember my unease with a therapist who, when Dafne was about to start nursery school, thought the request for support was unjustified. Between the lines, she held me responsible for imposing the label of different on her—something that would marginalize her for life. The objection struck me as pretextual, culpably ideological, and harmful to Dafne. I didn't let myself be persuaded, and the support teacher turned out to be invaluable.
In truth, we ourselves needed support—or perhaps a shaman, a healer. Someone to take our hand through the darkest moments, to help us decide, to comfort us in our bewilderment.
Over time, facts provided many answers. The anxiety for some abstract truth gave way to smaller, more concrete truths that either confirmed or contradicted the various predictions about Dafne's development (she walks, for instance, but doesn't speak). Her motor and cognitive abilities were observed, measured, cataloged. Emotionally, the certainty that we had subjected her to too many tests, investigations, hospital stays—sometimes unnecessary—never reconciled me with myself or absolved the doctors' willingness to rely on and overuse diagnostic tools. Why inflict all this on a defenseless child? What was Dafne feeling? What was she thinking? How much did she understand of what was being done to her? I confess I even wondered whether we should try other paths, trusting someone who didn't practice conventional medicine. I would have wanted someone with a "divine breath," someone above all who could give us a key to Dafne's inner world. (I never did, because it's hard to silence your own rationality for something so foreign to our culture.)
Through all our pilgrimages from one center to another, one doctor to another, the most pervasive feeling was this: after all those investigations, what eluded us was not so much the why, but the how. Many have observed Dafne. Few have understood her. (One psychologist, who saw her once, made a recent and apt observation: "Dafne is an enigmatic person.")
Excessive medical specialization often produces, not only in our case, a fragmented view of the problem. The result is that you rarely find someone who can offer a coherent interpretation of the clinical data and a perspective on the future—practical help in managing a situation that keeps changing. Finally, after long years, I learned to stop waiting for answers to why, and to focus instead on building a life for her and for us that is as happy as possible. The needs of parents seeking help are many and not easily met. Yet since time immemorial, we have turned to one another to ease suffering, and the relationship between doctor and patient remains one of the most complex and fraught we know. Science's answers are still not enough (and which science, anyway?), and doctors and families do little more than mirror human greatness and human smallness.
- Carla Fonzi Klieman, 2000
