Seth Mnookin Follows a Family Battling a Rare Genetic Disease  

Seth MnookinCourtesy of Seth Mnookin

Seth Mnookin

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.

What did you see as the story’s central point, at that stage?

One thing that really struck me in reading Matt’s post was the absolute hell they’d been through. That was what really got to me initially. My kids were at that time a newborn and age two. If I’d thought about it with any clarity, I’d have realized there was no way that [the fact that this family had been through hell] was going to be a story. For it to be a magazine story, there would have to be some kind of “this is new” hook.

How does the way you initially approached the story compare with what you teach students about finding stories?

It’s the exact opposite of what I would tell my students to do. One example I use with them is that a lot of people have that moment when they’re in high school and some of the injustices of the world are revealed to them. When I was in high school I had that sort of reaction to learning about the plight of homelessness; I wanted to go write a big newspaper package about homelessness—just this big topic, homelessness.

This was sort of the same: Holy shit! There are parents who understand that their kid might be about to die and there’s nothing they can do about it! That is horrible! Of course anyone who had thought through it would realize, “Duh, of course.” I think I just stepped off a cliff and didn’t think about whether I had a parachute or not.

How did you see the story unfolding?

When I pitched it, I was still thinking that a lot of the story was going to be about what happened to Bertrand [from] ages zero through four, because it’s so arresting. I wrote four to five complete drafts of this, and in the early drafts there was a lot more about that whole medical saga that Matt wrote about in his blog post. But none of that is in [my final story]. There’s at most probably a paragraph about everything that happened to him before he was diagnosed, because it was not central to the story I ended up telling. I mean, I fought hard to get more of it in there, but my editor argued, I think probably correctly, that that actually wasn’t part of this story.

I don’t think I realized that the story was going to be about the struggle over information to the extent that it was until pretty late in the process. In the spring of 2013, all of a sudden there was this comparative deluge of new patients: the Wilseys, the Stinchcombs, the family from Germany. … All of a sudden all these new cases kept cropping up [and] it became apparent that some of those children had been sequenced long before—which meant that theoretically, that could have happened the day after Duke got their results. That was what kind of astounded me. I understood that researchers don’t just share data with researchers at other institutions—the same way that if I’m writing a story for one outlet and someone else is covering the same story for another outlet, we’re not going to pool our resources even if we both believe that there’s important information that needs to reach the public as soon as possible. But this was such a stark example of that, and I realized that was, if not the centerpiece, a centerpiece of the story.

Considering how much of Bertrand’s diagnostic saga you left out of the story, do you feel the time you spent piecing together that history was worthwhile?

I don’t think I could have done the piece without the level of intimacy and trust that I had with the Mights, even though ultimately, out of the hundreds of thousands of words of transcribed interviews, there might be a couple of dozen that I used. But I think I needed all of that to feel confident in making the decisions [about what details to leave out]—to say, “OK, I’m not going to write about any of that.” It gave me a new appreciation for really well-reported pieces and how much goes into them.

the truth is out thereSeth Mnookin

This whiteboard reflects Mnookin’s efforts, late one night on a whiteboard at MIT, to sketch out a structure for his story. “When I came in the next morning,” he says, “someone had written ‘The truth is out there’ across the bottom.”

What did you do to gain access to Bertrand’s and the other children’s medical histories?

[The Mights] told all their doctors, “You have our permission to tell this reporter anything about Bertrand’s history or care.” That’s a huge leap of faith to say, “You want my medical records? Here they are. You want to ask my doctor something? Feel free.” Piecing together some of those details without being able to talk to the researchers or doctors involved would have been really difficult. I’ve kind of accepted that I’ll never have that kind of access for any story ever again.

For a lot of the other families, their first point of contact having to do with this disease was the Mights. So the fact that I was introduced by the Mights knocked down doors, obviously. Then to one extent or another, I kind of did the same thing I had done with the Mights—I tried to get the story not just of the diagnosis, but the story of this child from the time when he or she was born, as well as the parents’ story from that point on.

Talk about your writing process—what were the most important decisions you made?

I’m horrifically bad at outlining and organizing. And this was especially challenging because I literally had 230,000 words of transcribed interviews just with the Mights. And that didn’t even represent even half of the total interviews.

So probably steps one through five were just trying to clear away material. I started out by going through every interview and pulling the sections I thought might be useful, either because they contained important information or because someone said something in a particularly eloquent way. And I put those in separate files, so then I had separate files of each person I interviewed. Then I took all of that collected information and started creating topic documents.

For example, here are some topics: academic publishing; Bertrand care; Bertrand clinical history; Bertrand exome sequencing as pivot point; Bertrand exome study; Bertrand medical saga—it goes on and on—cause vs. cure; congenital disorders of glycosylation; Cristina Might depression; databases; Duke decision to tell Mights exome study results…

I ended up with 73 of those topic documents. And the vast majority of these, nothing in them got into the story. But when I was separating it out, I had no idea what wouldn’t be in there.

DevonThink database---topics

After he had assembled most of his reporting, Mnookin sorted every piece of information into topic folders.

This folder, created in DEVONthink, contains 107 files, each representing a different transcribed interview.

How did your first draft differ from later drafts of the story?

My first draft had a lot more of the backstory of Bertrand and the Mights, and was organized more chronologically. It started in 2002 with them meeting [as the New Yorker piece does], but then there’s 2,000 words of just their story and Bertrand and everything up to the Duke study. Then there’s a whole section about genetics that concludes with the Duke study. Then there’s a section on the blog post … so my first draft took things much more chronologically. A lot of the changes from then on were things that my editor suggested or gently pushed me towards. He felt very strongly that we couldn’t wait thousands of words until we got to present tense. And I think he was right.

Also, shockingly, looking back, my first draft had almost no actual scenes, just because when I was pulling out interview information in my notes, I didn’t differentiate between things that were in-person interviews and those that were Skype conversations.

Did you continue reporting after your first draft?

Yeah, I kept on reporting all the way through. My first draft was in January, and there were probably about 20 substantial interviews I did after the first draft. The conference where all the families were together hadn’t even happened by then. This whole NIH initiative to try to facilitate the kind of data sharing that would have made a difference here had been in the works before then, but I didn’t know about it before, and it didn’t actually happen until after that first draft was in. I didn’t even start talking to people at NIH or at the [NIH’s] Undiagnosed Disease Network until after the first draft.

What do you want a reader to take away after reading this story?

In any story I write, I want to reveal an aspect of the world that I did not know about.

The vast majority of people who read this are not going to be working in medical research and are not going to have a direct family member with a rare disease. For them, I feel like hopefully they can understand this part of the world differently than they did, and in understanding this part of the world differently, they understand the entirety of the world differently.

For people directly involved in this field, if the story can prompt some discussion around this issue, that would be very gratifying.

For people dealing with rare diseases, I have a hard time with that. On the one hand, what is happening to Bertrand and the children with NGLY1 is a more positive story than would have been predicted when I started working on it. But most rare-disease stories don’t end up that way. So it makes me feel uneasy when someone says “This gave me so much hope.” In writing about an example that turned out somewhat positively, at least to this point, I don’t want to give people the impression that this is usually what happens.

Right. And of course, the remaining challenges are enormous.

I think that was something that was hard for the Mights—they were so focused on finding other patients that I think it was a little bit tough when they found other patients, but everything wasn’t suddenly OK. It was the same thing when they fought for years to get a diagnosis and then they finally got a diagnosis—it was like “OK, now we just know what to call it.”

Bertrand was hospitalized shortly after your story appeared. After the initial crisis had passed, Cristina Might wrote movingly about how “surreal” it was “that we had an NGLY1 community/family behind us for the very first time…. To have people who knew *exactly* what we were going through, and *exactly* what we were feeling? It was transcendent.”

That really affected me also. And I think regardless of whatever happens with treatment or anything else, that is something that has been a huge positive to these families. This feeling that literally there is no one I know who understands this—that’s what was so incredible about that meeting in San Diego [where NGLY1 families gathered for the first time]—it was incredible watching the parents start to interact, and also it was incredible because you see these five kids together and they all have the same disease. You realize that this is a community of people.

What was most difficult about doing this story?

On the most fundamental level, it was challenging to understand the science to the extent that I could feel confident in not putting in certain information. Glycobiology is not straightforward, and there’s no way I can describe what a congenital disorder of glycosylation is simply—I’d actually defy anyone to. To get to that point you need to understand the role of proteins and enzymes in cells and then the role of sugars in relationship to those proteins—it was really complicated. So that was a big challenge, especially when there were different hypotheses put forward.

Another thing that was really challenging is that it was a story where a lot of people got kind of angry after reading it, but there’s not a villain. Which is a bit tricky. Obviously one aspect of my story is that there is less sharing than would be optimal for the patients. Duke, the institution that happened to diagnose Bertrand, did not go and ask other institutions if it could have access to their databases, but literally no institution in the world would have done that. The geneticists at Duke who are working on this are actually very proactive about wanting to figure out a way to deal with that exact problem. So a big issue was trying to figure out how to present the facts of the case without seeming like I was saying “Here are a bunch of self-centered researchers who weren’t doing everything they could to help patients because they wanted credit.” That was tough, and I don’t know if I succeeded 100 percent.

Any other particularly tough challenges with this piece?

I always find writing to be shoot-yourself-in-the-head-with-a-nail-gun difficult, but this was so difficult that at one point my parents saw fit to stage an intervention and see if everything was OK. I just must have seemed miserable for a long time. It was just really hard and I also felt some amount of responsibility: If sources were going to spend that much time with me and show me that much trust, I had to do the absolute best I could. But it’s not like it’s paint-by-numbers—it wasn’t clear what “the best I could” meant.

And I guess the last part is just on an emotional level, there were a lot of times when reporting the story was really tough. One of the families, this family in Georgia, the Stinchcombs, who actually have two daughters who have NGLY1 … what they have been through and what they continue to go through … to say that it astounds me is understating the way I feel about what they’re doing. They have not spent a night together alone away from their kids in 20 years. The father cares for the two girls with this disease full time. The mother is working insane hours. And while all this is going on, they’re the most good-natured … I don’t know, they just seem like they’re happy. They love each other and they love their family and they’re living the absolute best life they can. That really moved me and it also made me think about how when I complain that we had to wait 45 minutes for a pediatrician’s appointment, or woe is me because my daughter got poison ivy … It just made me look at my life in a different way.

4 Comments

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  4. Fascinating story of writing about a genetic disease involving glycosylation. I look forward to reading the story in the New Yorker. Probably the reason this sort of disease is so rare is that this process is usually essential to development and cell recognition. Hence, most pregnancies with such a genetic disadvantage would simply abort spontaneously.

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