Fighting a One-of-a-Kind Disease (2014) Mnookin New Yorker

[Hutan]

I found this article in the New Yorker when I was reading a more recent one.

One of a Kind - What to do if your child has a condition that is new to science?
Seth Mnookin

After describing the effects of his blog post, he told the crowd that it was inevitable that parents of children with other newly discovered diseases would form proactive communities, much as he, Cristina, and the Wilseys had done. Vandana Shashi believes that such communities represent a new paradigm for conducting medical research. “It’s kind of a shift in the scientific world that we have to recognize—that, in this day of social media, dedicated, educated, and well-informed families have the ability to make a huge impact,” she told me. “Gone are the days when we could just say, ‘We’re a cloistered community of researchers, and we alone know how to do this.’ ”

The takeaways for getting progress on a rare disease seem to be:

• it helps to have plenty of money, to access researchers and fund their further work
• social media can have a big impact on progress

It was interesting to read the following, bearing in mind that this was in 2014, when only around 9 children with this particular genetic condition had been identified across the world.

The Might and Wilsey collaboration has also prompted the N.I.H. to study the condition. This past spring, the agency began inviting NGLY1 patients to come to Bethesda for a week of tests and examinations.