The New Yorker:
Elana Simon was given a diagnosis of a rare form of liver cancer at the age of twelve. Six years later, a few months shy of her high-school graduation, she is not only a survivor but a certified cancer researcher: today, she published an article about her disease, fibrolamellar hepatocellular carcinoma, in Science, one of the world’s most important scientific journals.
One of the unique issues that Simon and others with extremely rare illnesses face is that there’s often not enough data to know exactly how to treat them. There are approximately two hundred and thirty thousand new cases of prostate cancer each year in the United States, compared to roughly two hundred new cases of fibrolamellar. This means that doctors know far less about the progression of rare diseases—and, because there are so few cases, they are often misdiagnosed. Meanwhile, drugs for rare diseases are often more difficult to develop, because sample sizes for experimental trials are necessarily smaller.
As Simon put it to me over the phone earlier today, patients usually freely surrender their tissue and information to hospitals, but why should they? “It’s their information, it’s their health, so they should have the right to do with it what they want,” she said. Perhaps the best thing patients can do is to give their data away for free to work, bit by bit, toward a cure. The open-access movement has worked for software and genetics; it can work for medicine, too.
Read the whole story: The New Yorker