Bertrand Might, index patient for new genetic disease, rushed to the ER

July 20th, 2014 → 2:39 pm @

Bertrand Might in the ER on July 19, 2014

Bertrand Might in the ER on July 19, 2014

In this week’s New Yorker, I wrote about NGLY1 disorder, a new genetic disease first identified in 2012. Bertrand Might, a six-and-a-half-year-old boy who lives in Salt Lake City with his family, was the index patient, and I began reporting the story not long after Bertrand was first diagnosed just over two years ago.

I learned about Bertrand’s story after reading a blog post his father, Matt Might, had written about the family’s diagnostic odyssey. I got in touch with Matt a few days later, and since then have spoken with him and his wife, Cristina, dozens of times, usually for hour long Skype sessions. I’ve visited the Mights in their home, have met Matt’s and Cristina’s families, and have had Matt over to our house in Boston for dinner. I’ve even sung duets from Frozen with their adorable daughter, Victoria. They are truly a remarkable family. They’ve endured more than most people could imagine and somehow remain simultaneously relentless and upbeat. They also happen to be two of the kindest, most generous people you could meet. (more…)

Post Categories: Genetics & Rare diseases