Her breasts are beautiful. This is a surprise. Seeing them looking so healthy and normal reminds you how young this patient is and what her life might be like if her body hadn't started to disintegrate in her childhood. If all you could see were her breasts, you would think she were perfectly fine. But that would be like the blind men trying to describe the elephant when each one focuses on a single part. Look at the rest of this patient's torso, and you start to get a sense of the fuller story. A little bit higher, near the left clavicle, you notice a bump beneath the skin marking the implantation site of her vagus-nerve stimulator, which delivers an electrical impulse to her brain every three minutes to stave off the seizures that would otherwise plague her. A little lower, on the right-hand side of her abdomen, you see a hole and a permanently implanted tube through which she has hooked herself up to peritoneal-dialysis equipment every night for the past five years, to flush out the toxins that her ruined kidneys cannot.
The metaphor of the blind men and the elephant applies not only to the landscape of this woman's body but also to the approach of just about every specialist who has seen her in the 20-plus years that she has suffered from her mystery disease. The limitation of this method is what took this patient — a petite, feisty, 31-year-old woman from Oregon named Summer Stiers — to this consultation room at the National Institutes of Health on a Thursday in early December, stripped down to her panties. Stiers was being examined by a dermatologist, Maria Turner, who is among the dozen or so specialists who would see her before the week was out. And even though Turner and the others are part of the innovative new Undiagnosed Diseases Program at the N.I.H., and even though they collectively represent the very best that American medicine has to offer, they still began by approaching the big picture of Summer Stiers the way most specialists do: like the blind men, one piece at a time.
The Undiagnosed Diseases Program was designed to move past that halting first step — the inevitable result of the organ-by-organ orientation of most medical specialties — to achieve a more coherent view. Under the direction of William Gahl, a longtime N.I.H. investigator who is also the clinical director of the National Human Genome Research Institute, the program brings together scientists from most of the N.I.H.'s 27 research institutes and centers on a collegelike campus in Bethesda, Md. Organizationally, it creates a kind of superdiagnostician, whose orientation would be to look at not just one piece at a time but at the whole darn elephant.
The program's methodology is still evolving, but for the first dozen or so patients it worked this way: A primary-care physician sent in a letter describing the case, followed by reams of records documenting the diagnostic dead ends the patient had already confronted. Gahl personally reviewed all the cases and discarded about three-quarters of them, usually because the problem was insufficiently documented, seemed to be psychosomatic or, for some other reason, left Gahl with the impression that the N.I.H. had little new to offer. Then he took the most promising cases to his medical-review board, made up of several dozen clinical investigators from all over the N.I.H. The board reviewed 10 or so cases at each monthly meeting, out of which it accepted just a handful, the ones that seemed most likely to lead to a new insight into a known disease, or, even better, to a diagnosis of a disease never before seen. Then Gahl's staff arranged to bring in each patient for a week of assessment in Bethesda. There, the patient would meet an array of specialists who did physical exams, took histories and conducted whatever additional tests they needed: ultrasound scans, M.R.I. scans, X-rays, electroencephalograms, maybe a spinal tap or a biopsy of skin or other tissue.
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