I found this article to be fascinating. It reminds me of a few other rare disease stories, like those of Matt Might's [1, 2].<p>[1] <a href="http://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-" rel="nofollow">http://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-</a><p>[2] <a href="http://matt.might.net/articles/my-sons-killer/" rel="nofollow">http://matt.might.net/articles/my-sons-killer/</a>