Pulse
Briefs
NIH Program Tackles Confusing Cases
“My name is Sheila, and I’ve been undiagnosed for 25 years now.” So begins a story posted on the website of INOD (In Need of Diagnosis), an organization that supports people whose ailments have confounded their doctors. The writer describes an array of symptoms and her despair about having no explanation as to what’s causing them.
Sheila’s story may, in fact, be one of the thousand or so medical mysteries that have been brought to the attention of the new National Institutes of Health (NIH) Undiagnosed Diseases Program since it was launched last May. The program combines the expertise of the NIH Clinical Center, the National Human Genome Research Institute, and the NIH Office of Rare Diseases in an attempt to find diagnoses for patients with baffling symptoms.
According to Stephen Groft, Pharm.D., director of the Office of Rare Diseases, seeds for the program were planted in the late 1980s, when a national survey of patients with rare diseases revealed that 15 percent waited more than five years for a diagnosis and another 30 percent waited between one and five years to find out what they had. In recent years, approximately 6 percent of inquiries to the Genetic and Rare Diseases Information Center have been related to undiagnosed diseases. “We realized there was a tremendous need for patients who didn’t have a diagnosis,” he says.
There’s been no shortage of interest in the program since it started. “We’ve been swamped with requests,” Groft says.
More than 350 of the thousand-plus patients who’ve called the program’s information line have taken the next step of having their provider send a summary letter and medical history, according to William A. Gahl, M.D., Ph.D., clinical director at the National Human Genome Research Institute. NIH reviewers screen the letters and charts, then pass them on to a panel of experts who study them in depth. Gahl says they have two criteria for selecting cases: if they think they can make a diagnose and offer treatment, and if the case will help define a new disease or provide some insight in terms of cell biology or biochemical pathways.
Gahl notes that for every medical “zebra” they encounter, they have to forge through 20 or so records of patients who haven’t been worked up appropriately by their own physicians or who may have a constellation of problems caused by known diseases such as diabetes, heart disease, and stroke. “We still have to look through those charts, review them, think about them, and write letters to see if anything else should be done,” he says, noting such work takes them away from going after the true zebras. “They throw us off the path.”
As of October, about 30 patients had been accepted into the program and a half dozen had been seen at the NIH Clinical Center. Gahl says NIH physicians have made treatment recommendations for symptoms for which they don’t yet have a diagnosis, diagnosed atypical multiple sclerosis, ordered genetic testing for a patient they believe has Alexander’s disease, and even found what may be a new disease.—Carmen Peota