While working as a postdoctoral psychology fellow at Emory University's affiliated Grady Hospital, Sarah E. Dunn, PhD, caught pertussis, or whooping cough, from a patient.
What followed were three years of relentless medical problems that resulted in 22 different diagnoses. First, her throat and vocal cords went into spasm, sometimes freezing in a closed position so she couldn't breathe. Later she developed blood clots, multiple and sometimes serious infections, debilitating abdominal and joint pain, anemia and fatigue. For several months in a row, she spent every third night in the emergency room.
With the steady help of many people, including her friend and colleague Nadine Kaslow, PhD, an Emory University psychologist who is also APA's president-elect, Dunn eventually made her way into a unique program launched at the National Institutes of Health (NIH) in 2008. Called the Undiagnosed Diseases Program, it is headed by William A. Gahl, MD, PhD, who also is clinical director of the National Human Genome Research Institute, an NIH institute of which the program is a part.
The program has two major goals, one clinical and one scientific, says Kevin O'Brien, a nurse practitioner who served as Dunn's primary medical provider during her week's stay in December 2012. On the clinical end, NIH clinicians and scientists work together to try to identify the cause of the illness and then recommend treatment. On the research end, the program's researchers study the patient's biochemical and imaging data and compare it with data from patients with similar medical presentations.
"Every time a person comes through, we have an opportunity to advance medical knowledge about both common and rare diseases," says O'Brien, who is an associate investigator in the program.
By the time people are admitted to the program, many have undergone five years or more of exhaustive and often frustrating testing in other medical settings. The program is extremely selective, and patients must meet a number of criteria. These include having a condition their physicians deem organic rather than psychiatric, and it must be truly undiagnosed rather than a missed diagnosis that could have been made by outside doctors. Participants must have an illness that has never been described or identified; a rare illness, defined as one that affects fewer than one in 200,000 people; or an uncommon variant of a more common illness.
The program's success rate is low: The cause of a patient's problem is discovered in about 10 to 15 percent of cases, with about half of those found to have genetic bases.
The program needs more of the psychological perspective, says O'Brien, who adds it is hard finding psychologists trained to work in the medical arena. For one thing, each patient receives a multidisciplinary consultation that typically involves about six expert practitioners from different NIH institutes, including specialists at the National Institute of Mental Health. There's also a tremendous need for medical or health psychologists who can work with patients on the clinical aspects of care. Dunn, for instance, wishes she'd had a psychologist to help her process the week's intensity and sort through the mounds of information she received.
There is also room for important psychological research to be done, says O'Brien. Potential topics include developing and testing ways to help people cope with serious, chronic, undiagnosed illnesses; teasing apart which aspects of these conditions are physical and which are exacerbated by psychological factors; and examining how chronic physical suffering affects people and what tools can help alleviate their suffering. Psychologists can submit proposals on these or related topics either to NIH institutes or to the program's research arm, the Office of Rare Diseases Research, says O'Brien. They'll have further chances to collaborate once NIH funds several extramural academic centers as program partners in June, he notes.
As for Dunn, she remains without a firm diagnosis but is feeling better than she did a year ago. The treatment suggestions she got at NIH were extremely helpful, she says, and she can't imagine getting better care — except, perhaps, to have had a psychologist as part of her complete care team.
To this end, she sees a bit of a silver lining to her ordeal.
"I definitely feel like a part of my work going forward as a psychologist should be with people who have undiagnosed medical problems," she says. "I have the ability now to empathize with people who are ill and to understand what they're going through."
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