After what sounds like an unimaginably difficult time, the parents finally found a team of researchers who found the source of Bertrand's ills--a mutation in a group of genes called NGLY1 that make an enzyme vital for recycling cellular waste. But the bad news, which the parents already basically knew, was that this was an incredibly rare disease, and nothing could really be done unless more patients were found.
The Mights took action. Matt authored a blog post about his son's "killer" that went viral. This helped connect him with other patients around the world that also turned out to have NGLY1 mutations, and the Mights, along with another family who has a child with a similar disorder, the Wilseys, have spent hundreds of thousands of dollars funding research on the topic. That culminated in a gathering of NGLY patients at a meeting of the Rare Disease Symposium at Sanford-Burnham earlier this year, which was solely devoted to NGLY1. It's an inspiring story of parents' willingness to do anything to help their children, and a demonstration of the immense power--and limitations--of science.
source: popsci.com By Douglas Main