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kottke.org posts about Sonia Vallabh

The Incurable Disease vs the Relentless Couple

posted by Jason Kottke   Jan 16, 2019

When Sonia Vallabh lost her mother to a rare disease called fatal familial insomnia, she soon found out that she had inherited the disease, that there was no cure, and that she’d be dead in “a decade or two”. Despite almost no scientific training, Vallabh and her husband both quit their jobs to work on a cure. Talk about going all-in.

Within a few weeks of the diagnosis, Sonia had quit her job to study science full time, continuing classes at MIT during the day and enrolling in a night class in biology at Harvard’s extension school. The pair lived off savings and Eric’s salary. Sonia had expected to take a temporary sabbatical from her real life, but soon textbooks and academic articles weren’t enough. “The practice of science and the classroom version of science are such different animals,” Sonia says. She wanted to try her hand in the lab. She found a position as a technician with a research group focusing on Huntington’s disease. Eric, not wanting to be left behind, quit his job too and offered his data-crunching expertise to a genetics lab. The deeper they dove into science, the more they began to fixate on finding a cure.

They’re now on the brink of getting their Harvard PhDs and are pushing ahead with a promising medical therapy.

As soon as the couple began their presentation, Lander says, there was a sense of “pushing on an open door” — quite a surprise, given the agency’s stodgy reputation. “People still flat-out don’t believe the FDA was cool with it,” Minikel says. Afterward, one of the 25 scientists in the audience pulled Lander aside and said, “That was one of the best presentations I’ve ever seen.” Schreiber agreed. He alluded to a pharmaceutical company he’d helped set up early in his career. “Twenty-four years into that company, there was nothing to show for it. Not one thing,” he says. “For two graduate students who are not trained in science to come in and do what they did? Absolute forces of nature, savants. They keep seeing things that other people don’t see.”

Update: D.T. Max wrote a book on prions and prion-based diseases called The Family That Couldn’t Sleep. I looked in the kottke.org archives and found a 2010 post on a National Geographic article Max wrote about sleep that specifically referenced fatal familial insomnia:

The main symptom of FFI, as the disease is often called, is the inability to sleep. First the ability to nap disappears, then the ability to get a full night’s sleep, until the patient cannot sleep at all. The syndrome usually strikes when the sufferer is in his or her 50s, ordinarily lasts about a year, and, as the name indicates, always ends in death.

(via @mattbucher)