ORLANDO, Fla. — At 18, Austin Pruitt was an honor student, star baseball player and classical pianist. Then a piercing pain began behind his eyes.
His father, a surgeon, first took him to an eye doctor — then to a retina specialist, a cornea specialist, an otolaryngologist, a neuro-ophthalmologist, a string of neurologists, assorted surgeons, chiropractors and acupuncturists. Even a psychologist.
The family has traveled to the most prestigious medical centers in the nation, consulting at least 50 doctors, and Austin has undergone numerous surgeries, drug regimens and other treatments. Four years later, he is still unable to attend college or, many days, even leave the house.
But one of the most helpful responses he got came from a 75-year-old former property manager in Orlando who runs a grass-roots nonprofit organization from a tiny office.
“Whenever he was feeling a little better, Austin would go online, and he found her website,” said Bryan Pruitt, whose practice is in Dallas. “And then she kindly wrote back offering information. I think she’s been very helpful. She has offered a number of resources — including a few things we hadn’t tried. I think she is a great resource.”
Marianne Genetti has little formal medical training, and she is not trying to personally diagnose anyone. But after decades of searching for clues to her own medical mystery, she founded In Need of Diagnosis seven years ago to help Americans wade through a health care system that is increasingly specialized and, she says, not especially friendly to those with uncommon illnesses and symptoms.
“People think they’re alone in this — that it’s because they haven’t found the right specialist or they don’t have the money to go to Mayo Clinic,” she said. “They don’t realize it happens all the time. … In medicine, you don’t exist if you don’t have a diagnosis.”
Her message has found a receptive audience, and her organization won a national patient-advocacy award in 2011. Hundreds of people have sought her help, and she responds to each of them, though she earns no salary and her charity has received virtually no donations and little grant money. For most of her seven years, she has had little or no staff.
But Genetti’s passion for an attitude change in medicine has led her to lobby some of the foremost minds in the field. Mention the name of her nonprofit to doctors at Yale or Vanderbilt, for instance, and many are familiar with it.
“People say you can’t change the medical profession, but I think you can,” she said. “And if you can’t, at least you can help people while you’re trying.”
How often do patients languish for years with troubling symptoms and no diagnosis? There are no good numbers, simply because no one tracks them.
Dr. Lisa Sanders, a clinician educator in the Primary Care Internal Medicine Residency Program at Yale, said the figure most often cited is that in primary-care specialties the initial diagnosis is incorrect about 15 percent of the time.
A 2003 analysis published in JAMA found that about one in four patients whose cases were studied at autopsy had experienced a “major error” in diagnosis. In more than a third of those cases, the outcome might have been different with the correct diagnosis.
The researchers said doctors had clearly improved in accuracy from 1966 to 2002, the period of analysis, but that misdiagnosis likely still contributed to the deaths of nearly 35,000 patients a year.
Sanders — whose “Diagnosis” column for The New York Times was the inspiration for the TV show “House M.D.” — blames some of the problem on the increasing pressure primary care doctors face to rush through patients.
“The world is not filled with internists who would be thrilled to see a patient come in with a 3-inch stack of records” seeking a diagnosis, she said. “And do you know why? Because we have six minutes to see a patient. The whole system is set up so that complicated patients get the short end of the stick.”
In private practice, two oft-cited studies show the average time spent per patient dropped from 21 minutes in 2001 to 10 by 2007.
But that shrinking amount of face time isn’t the only culprit. Patients who hop from specialist to specialist, with no internal medicine doctor looking at the big picture, contribute to the problem. One doctor may not even know what medications another has prescribed.
Dr. Deborah German, dean of the University of Central Florida College of Medicine and a rheumatologist by training, said doctors who encounter conflicting test results and baffling symptoms need to have “the spirit of inquiry.”
“We need to train the doctors, when they’re finished with what they do know, to then say: ‘What could this be?’ ” she said. “And then they need either to pursue it themselves or make sure the patient gets in the hands of someone who can.”
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It’s also critical how they communicate that message to the patient. For someone with chest pain whose test results reveal a healthy heart, the doctor’s response should not be a dismissive, “There’s nothing wrong with you.”
Instead, German said, it should be something like: “I have good news for you. The pain you’re having is not your heart. And the reason that’s good news is that I don’t have to take you to the (operating room) today, and you’re not going to die in your sleep tonight. But it’s also bad news, because it means that we don’t know the source of your pain right now, and I’m sorry that I couldn’t find out what it is. But I know someone I think might help you.”
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Genetti welcomes that spirit of inquiry and collaboration — something she said she rarely sees now. Although the National Institutes of Health established its Undiagnosed Diseases Program in 2008 — taking patients with mysterious conditions that have long eluded diagnosis — the team of doctors there accepts only 50 to 100 cases per year. Meanwhile there are thousands of applicants, each with piles of medical records and referral letters, some stretching back decades.
Perhaps more disheartening, the team has produced a diagnosis for less than 20 percent of the patients it accepts.
Genetti knows she personally may never find the answer to her own problem: difficulty walking and, sometimes, breathing, along with recurring fatigue. She needs a cane to move even a few yards.
Her problems date back to when she was 18. She remembers distinctly the moment her legs first buckled on her.
In the decades since, she — like Dr. Pruitt and his son — has been to the top medical centers in the country and had several suggested diagnoses, including that her symptoms were psychosomatic.
“If they can’t find the problem, they deem the patient to be the problem, and they send the patient to a psychiatrist,” she said. “That’s not always so bad. The psychiatrist may be the only one who has time to listen.”
She ultimately turned to a doctor certified in “functional medicine” — a field that looks holistically at nutrition, genetic makeup and other factors to determine root causes. It is what she suggests to the patients who write to her, in addition to sending them literature on their specific symptoms and help in finding practitioners who “think outside the box.”
“Dr. House,” she likes to say, “where are you?”
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“We need people like her,” Bryan Pruitt said. He recently set up a website detailing his son’s medical history and test results and offering a $50,000 reward for an answer that will resolve Austin’s problem.
“I found out that if your symptom is pain, a lot of doctors kind of put you in a category — you know, you’re a complainer, you’re a malingerer or you’re just seeking drugs,” he said of his colleagues. “At least Marianne showed us a willingness to help.”