Bertrand Might’s parents knew something was wrong soon after he was born in 2007. The baby was “jiggly” and nearly impossible to comfort; as he grew, his health deteriorated. For years, the Mights searched desperately for a diagnosis. In 2012, scientists at Duke University learned through a form of genetic analysis known as exome sequencing that Bertrand’s illness was almost certainly caused by two separate mutations of a little-studied gene called NGLY1. While the Duke researchers were able to tentatively diagnose Bertrand, they couldn’t know for sure until they located another child with the same disease—and because there’s no formal mechanism for researchers at different institutions to share sequencing data, finding that crucial second case could have taken years. With Bertrand’s health rapidly deteriorating, his parents, Matt and Cristina Might, set out to find more patients on their own. Their quest drew the attention of science journalist and author Seth Mnookin, associate director of the Massachusetts Institute of Technology’s Graduate Program in Science Writing. Mnookin was drawn by a simple question: What do you do when you learn your child could die from a disease with no other known sufferers?
In “One of a Kind,” published in The New Yorker on July 21, 2014, Mnookin told the Mights’ story. As he reported on the scientific and administrative complexities surrounding rare diseases like Bertrand’s, Mnookin says, he also discovered “remarkable amounts of grace” in the families struggling to understand and cope with their children’s illness.
Here, Mnookin tells TON co-founder Siri Carpenter the story behind the story:
How did you find this story?
Matt Might, the father of the child I wrote about, wrote this 5,000-word blog post in May of 2012, describing the odyssey that ended with his son being diagnosed, through next-generation exome sequencing at Duke University, as the first person in the world with this new disease. Gizmodo reposted the piece two days later, which is where I saw it.
I was very affected by it. I emailed Matt saying “Hi, that was really powerful and if there’s any reason for you to be [in Boston] and you want to give me a call, please do.” He answered me, and then four or five days later I wrote again and said “I don’t have an assignment, I don’t have any prospects of an assignment, I’m not at a point where I can devote a huge amount of time to this”—I had just gotten to MIT—“but I think your story is incredible and I’d love to start talking with you with the idea of maybe one day doing something.”
For about a year, we spoke by Skype about once or twice a month. I also went and visited with the Mights in Salt Lake City in September of 2012. It was only in August or September of 2013, after I had dozens of hours of interviews with them, that I finally pitched the story.
How did the fact that you were teaching in the science writing program at MIT affect your decision to take on this story?
This was probably the first time in my life where I had the freedom to work on something without knowing what it was going to turn into. When I was just freelancing, I couldn’t have afforded to do that. In some ways my situation was perfectly suited towards working on that type of piece. Here was something I could work on when there was time. And if I hadn’t been able to convince some magazine to let me do it, I would have been really disappointed, but it wouldn’t have meant that all of a sudden I was going to be destitute. So that’s a huge luxury.
What did you talk about with the Mights, in those early conversations?
Initially I just started talking about Bertrand’s history: the same ground that Matt had written about in his post, and that [Bertrand’s mother] Cristina had also written about—she had her own very active blog about Bertrand that she had been keeping since before he was a year old. I was just building up the timeline and getting them to go back again and again because each time, details would come out. Read more »