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.
A few weeks ago, just before my article was published, Cristina gave birth to the Mights’ third child, a boy named Winston.
It was a happy time for the family. It wasn’t just that Winston had arrived — Bertrand was also as healthy and happy as he’d ever been. When I first met the Mights, Bertrand was constantly in and out of the hospital; for the last eighteen months, his only trips to the doctor were for regularly scheduled appointments.
That streak ended yesterday. You can read Matt’s account of what happened here; this is his description of what happened once the Mights’ made it to the ER:
Heart rate was tachycardic and rising. Body temperature was 102 F. Blood pressure was low and plummeting. Oxygenation was in the 80% range. Breathing was painful and labored. They kept referring to poor perfusion from his mottled skin. …
As Bertrand’s breathing worsened, the physician pulled us out of the room to speak with us in private.
“Since he has a serious genetic condition and it looks like he may need a breathing tube shortly, I want to know if you would like to allow the assisted respiration. I apologize for asking, but with these sorts of conditions, I have to check.”
Matt and Cristina did not hesitate: the doctors should intubate Bertrand and do everything they could to keep him alive. A few hours later, Bertrand was diagnosed with bacterial pneumonia. Since then, he’s stabilized and is now on pain medication. More from Matt:
I’m optimistic that Bertrand will respond quickly to the antibiotics, but it’s going to be a long five days for him.
I would hardly call us complacent in the search for a treatment.
But, this and recent events with other NGLY1 patients are a reminder of just how fragile these kids are and of the urgency of finding a viable treatment.
Once Bertrand is well and home, we’ll resume the hunt with haste.
As a reporter, I’m used to feeling like a bystander at important, or painful, or transformational, or historic events. And as a parent, I know what it’s like to feel helpless in the face of a child’s illness. I’ve never felt both of those things at the same time. Until now.