But that prediction was premature.
On a flight to Boston just a few days
later, Hopper began vomiting. Once
the plane landed, medics rushed him
to Massachusetts General Hospital,
where he stayed for 11 days. Exas-
perated, Hopper insisted to the new
group of physicians: “Look, I’m not
leaving here until you find out what’s
wrong with me.”
If Hopper’s story sounds familiar
to you, you’re not alone: Twenty-five
million Americans suffer from rare
illnesses, many of which go undiag-
nosed for years, according to statistics
compiled by the National Institutes
of Health (NIH). A study published
by the Mayo Clinic found that the
true cause of illness had been either
missed or misdiagnosed in roughly 20
percent of patients who underwent autopsies after dying
in the intensive care unit. An analysis of diagnostic errors
published in The Journal of the American Medical Associa-
tion suggested that approximately 10 percent of all hospital
deaths involve a major diagnostic error. Not surprisingly, the
cost is high: Legal-claim payouts alone for diagnostic errors
account for more than $2.5 billion a year, a recent analysis by
Johns Hopkins Hospital in Baltimore shows.
But the financial cost pales in comparison with the emo-
tional and physical toll. Patients who go for years without a
diagnosis often are “medical disasters,” says William Gahl,
M.D., Ph.D., director of the NIH’s Undiagnosed Diseases
Program, which was launched in May 2008 to study some
of the most difficult-to-diagnose medical cases. “They may
be given diagnoses based on spurious test results that lead to
treatments that are inappropriate or even harmful,” he says.
“And living for years without a diagnosis can accrue all sorts
of complications. People come to us having had unnecessary
surgeries, and compression fractures and osteoporosis from
taking steroid medications.”
The problem is complex. Not only do many illnesses mim-
ic others (see chart, opposite), but physicians sometimes
lack the time or expertise to arrive at a definitive diagnosis.
This can occur particularly when a patient has a rare disor-
der or a common illness with an unusual symptom, says Lisa
Sanders, M.D., a Yale University School of Medicine profes-
sor who writes the Diagnosis column in The New York Times
Magazine. The good news is that patients can do a lot to help
their doctors reach the right diagnosis sooner.
Yale physician Sanders has identified three primary reasons behind the
failure to diagnose: mistakes in how
doctors think, overreliance on specialists and medical testing, and the human body itself, which can experience
a multitude of ailments but has limited
ways to communicate those ailments.
“In medical school we’re taught that
the way to make decisions is to go with
what is most common first,” Sanders
says. “It’s drilled into us: When you
hear hoofbeats, think horses, not ze-
bras. And that’s great if you have what
most people have. But that approach
completely falls apart if you don’t, and
then determining a diagnosis requires
unusual thinking.”
Charmaine Frederick, now 59, is a
perfect example. In 2002 the regis-
tered nurse from Orlando began falling down, her sense of
smell diminished, and her handwriting became illegible—all
common symptoms of Parkinson’s disease. But because the
disease usually emerges in much older patients, the dozen
doctors she consulted ruled it out. Finally, Frederick made
an appointment with Florida neurologist Ira Goodman,
M.D., who noticed that she blinked only a few times during
the office visit, a sure sign of Parkinson’s. “If you’re not really
paying attention to what’s in front of you, subtle things can
just breeze by,” Goodman explains. “Things are missed all
the way up the medical chain, and you have to really climb
the ladder to find the right specialist.”
Indeed, finding the right specialist—or even determining
when to see one—is part of the challenge. “There are so many
submedical specialties today, which can further fragment the
complex diagnostic puzzle,” says Genetti. Some hematolo-
gists, for instance, may do only chemotherapy, while some
neurologists may focus only on the treatment of Alzheimer’s.
If your primary care doctor sends you to the wrong specialist,
it may take several visits before you can figure out that’s what
happened. “Specialists often have too narrow a focus,” Sand-
ers confirms. “As an internist, I try to figure things out first.
There are important reasons to send a patient to a specialist,
but that reason should not be ‘I just don’t have the time to
deal with this.’ ”
Yet with a price tag attached to every minute of a doctor’s
time, physicians spend less time with each patient than
they used to, and they increasingly rely on tests to provide
answers. When those tests are inconclusive or inaccurate,
the patient and his or her physicians may find themselves
traveling down the wrong treatment path. “There are lots of
diseases that can look like something else,” explains Sanders.
“And that’s where clinical judgment and experience are
essential. Doctors see test results as coming straight from
God. But just because a test gives you a yes or no answer
doesn’t mean it’s right.” (CONTINUED ON PAGE 80)
10% of all
hospital deaths
involve a major
diagnostic error.
Legal-claim
payouts for
diagnostic errors
cost more than
$2.5 billion a year.
Why Diagnoses Are Missed
Medical experts agree that diagnostics is a weak link in medicine. “Our nation’s medical system is wonderful at crisis care
but does not have a good record when it comes to diagnosis,”
says Marianne Genetti, executive director of In Need of
Diagnosis (INOD), a Florida patient-resource organization.
