A year after my friends Eric and Sonia got married, Sonia's mom died.
It was all quite sudden and terrible; she died from FFI (fatal familial insomnia), a prion disease related to Mad Cow and kind of like a very rapid-onset Alzheimer's, Parkinson's, or Huntington's. FFI, in particular, targets the thalamus, which, among other things, controls your biorhythms, and that's why FFI causes insomnia as a major feature of the disease. Other symptoms are weight loss, lack of appetite, and rapidly progressive dementia -- forgetfulness and confusion at first, leading eventually to inability to walk, talk, or do much of anything. From the time first symptoms appear to death is usually around a year. Average age of onset is around 50. As far as it's known, everyone who has the mutation eventually gets FFI and dies of it.
Sonia's mom's death was mysterious at the time, and it wasn't until almost a year later that they found out the disease had been genetic. By that time, Eric had finished an MS at MIT and was working as a city planner. Sonia had graduated from Harvard Law and was trying to figure out how to wield her newfound power to do something good in the world. Around this time, she decided to get tested for FFI. As I'm sure you've figured out by now, she tested positive.
This is the part where I'd throw my hands up, rage, and eventually resign myself to making the most of the time I have left with the people I love and make some practical adjustments with the knowledge that I wouldn't live past 50 in mind. Eric and Sonia didn't do that.
As you recall, they were a city planner and lawyer. Neither knew anything about biology beyond what they'd learned in high school. Nevertheless, Sonia quit her job and started taking biology classes at MIT and Harvard Extension. Eric immersed himself in contacting and meeting with people working in the field and reading every paper he could. When the papers didn't make sense, he backtracked and read everything he could find until they did. In under a year after Sonia's genetic test results came back, both Eric and Sonia landed jobs at the Center for Human Genetic Research at Mass General Hospital, in a lab that studies Huntington's disease -- also a genetic neurodegenerative disease. Eric is now a computational scientist who's analyzing biological data instead of the transportation data he used to work with. Sonia runs stem cell experiments.
Both have dedicated their lives to trying to find a cure for FFI.
Imagine the uncertainty that comes with starting your own business. Now move that uncertainty into a domain you know next to nothing about and add life-or-death odds to the mix.
Despite that, they're doing it.
Here's a really amazing video that explains a bit about the disease and features Eric and Sonia talking about their situation and what they're working on:
They made the video for their Microryza campaign, which lives here:
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