A woman who started struggling with her sense of balance and slurring her speech, almost as if she was drunk. A man who had 30 bouts of meningitis over a period of seven years, even though there was no underlying bacterial or viral infection. Another woman who, for 16 years, has endured burning pain in her hands and feet. Those are three of the patients who have been referred to the Undiagnosed Diseases Network, which the New York Times takes a look at in a recent piece. The federally funded project has 12 clinical centers, and those who are accepted for evaluation pay nothing. As the Times puts it, the patients who are accepted have often bounced from doctor to doctor, being met with either multiple misdiagnoses or a complete lack of answers; they “have exhausted every hope save one”—the network.
The network examines every possible avenue. The first woman mentioned above recalls, “I had a year’s worth of testing in four days. The first day was 25 vials of blood.” She also got a skin biopsy, an MRI, psychological exams, eye exams, plus sequencing of her genes and nearby regions of DNA. She was fortunate—she got a diagnosis, and found that she has an inherited disease, Niemann-Pick Type C, that almost always presents in childhood; she was in her forties when symptoms showed up. Of the other two patients profiled, one was diagnosed with an extremely rare gene mutation that doctors were able to work with, alleviating many of his symptoms: “It was like a miracle,” one of his doctors says. The other remains undiagnosed, but doctors are still working on it. “We never give up,” says the network’s co-director. See the full article here. (A mystery disease strikes just one family on the planet.)