My wife and I are a tiiiiiny bit type A. We try to be laid-back and pretend we aren't, but we totally are. We run marathons, we get up in the dark to work out, we engineer our diets for maximum performance. In her career, she constantly seeks ways to be better, to give her patients an even higher standard of care. As for me at home, I scour reading lists for the kids, scout out nifty DIY science projects, and hatch sneaky ways to stimulate growing minds. This intensity is what drove my wife and me to marry each other. Our first date was a 17-mile run, essentially on a dare.
We pick the hard things. And then we do them until we succeed.
So it's weird for us to give up on something. It feels wrong. We aren't giving-up kind of people. Even when I left my legal career, it wasn't a surrender or failure, it was a choice. An affirmative decision to work less and live more.
But in one situation, giving up is exactly what we do. We reach the end of Tess's genetic testing, and her doctors tell us that there is no answer. We don't know why she is the way she is. They've isolated a specific mutation in a specific gene, and it's one that neither Kate nor I have, but they don't know enough to say what the mutation means. Check back with us once a year, they tell us. Maybe we'll know more about that gene.
We enrolled her at the Manton Center for Orphan Disease Research, which attacks diseases affecting fewer than 200,000 people in the U.S. No answer there. They'll keep her data and run it against their ever-growing sample set, of course. But otherwise their story is the same: call us and check in every so often, but don't get your hopes up.
Now we move forward, away from these disappointments. There is nothing more we can possibly do, we tell ourselves. It's the end of the line. We'll never know. Gradually, as the months pass, we even approach a sort of peace about it. We stop googling things like "Bisphenol-A in utero." We don't need to know why she is the way she is, we say. We love Tess this way, and that's enough.
We don't even mind so much anymore when insensitive friends and relatives spout off with questions, such as "What's her deal, anyway?" It's like we aren't even hearing them. We've pushed those questions away so much, they've been silenced even in our own minds.
This acceptance is part of our overarching philosophy about Tess: so much of happiness comes from deciding to be happy. If things go wrong, you can either let them defeat you and go negative OR you can make the choice to smile and get through it and stay positive. This idea isn't ours. We got it from Gretchen Rubin's excellent book The Happiness Project. The writer George Saunders adopted a similar mindset when stuck in tedious jobs before he became a full-time writer: he saw those jobs as training for his writing, a way to discover humans and what they do and what life is about. This way of living has been working pretty well for us--through long days at Boston Children's Hospital, through puke and shit on our clothes at times, sick kids stuck at home, whatever.
In other words, we go 100% against our nature by giving up on finding our answer about Tess. We decide we're at peace with it. And that is pretty much that.
Then, it's summer 2014. A writer named Seth Mnookin writes a 6,000-word article for The New Yorker magazine. The article's called "One of a Kind." It's in the July 21, 2014 issue. On the day that issue hits my mailbox, I'm scheduled to pick up Dana from day camp. It's hot, especially for Maine. In our driveway, I open the sunroof and all the windows. I grab the mail--including The New Yorker--from the mailbox and head across town. When I get to the camp, it's still early. Dana won't get out for a few minutes, so I park and get out the magazine for a little reading.
Within minutes I have found Seth Mnookin's article and I am sobbing in my car. I close the windows and sunroof and finish the whole article and am utterly undone. When I go to get the boy, I do my best to hide the tears from his gung-ho aikido instructor and the arty high-school kid who's his counselor. Most of all, though, I have to hide them from Dana. He can sense feelings from blocks away, usually. There's no doubt that he'll ask what's up. The truth is, if he asks, I don't know how to explain what's going on with me. I don't know how to tell him why the article is so upsetting.
It tells the story of Matt and Cristina Might, a couple from Utah whose son Bertrand was born with a rare disorder. No one could diagnose it. Bertrand Might went through round after round of genetic testing, crossing off rarer and rarer disorders, and still there was no answer. Their family ping-ponged among specialists. At first each specialist took on the challenge of solving the mystery, but then lost interest over time. The hardest part was that the specialists would insist that the cause of Bertrand's illness was in someone else's field. Nothing was getting done. The Mights had no idea what to even do next. The sentence that slays me, sitting there in my car, is this: "What if Bertrand was suffering from a disorder that was not just extremely rare but entirely unknown to science?"
Like Tess, Bertrand had his exome sequenced. (The exome is the part of the human genome that contains proteins, where most disorders would be found.) And like Tess, on one gene they found a mutation, one that had appeared for the first time in Bertrand. In other words, there was a mutation that neither of his parents had.
Here's where Bertrand's story took a sharp turn, away from Tess's. The doctors suspected that Bertrand's illness was linked to that mutation, but they needed more samples to be sure. Matt Might had a blog, and he wrote about needing more patients, in a post called "Hunting Down My Son's Killer."
Well, a ton of people read that post. One of them was a guy named Matt Wilsey, in San Francisco. The Wilsey family is huge in SF. Wealthy, philanthropists, know everyone in the world. They make shit happen. It'd be like if Bruce Wayne were reading Matt Might's post. Except Matt Wilsey was married and had a daughter, and that daughter had a lot of the same symptoms as Bertrand Might.
Long story short--and not to ruin the article for you--but because of Wilsey's resources and connections, they found nine more cases in the world, and established a multi-million-dollar coalition to research their kids' condition. Mnookin points out that this is unheard of, for families to spearhead an international research agenda, and the only reason it's possible for the Mights and Wilseys is pretty much because they have family money. (Matt Might's dad is the president and CEO of Cable One, the cable TV division of the former Washington Post company.) Besides the coalition, the Mights and Wilseys did two other things. First, they got a mega-team of researchers to collaborate on publishing a comprehensive report about the disease. Second, they got the National Institute of Health to study the disease too.
So why does Mnookin's article get me? Because now I know: we can do more. It's not over. Forget all that closure we worked so hard to achieve. Our life with Tess has become more enjoyable in the past few years because we've been able to just be with her. There's a ton of work to be done with Tess, helping her to walk and teaching her to sign and hold a spoon and tell us when she has to go potty, but we haven't had to spend every waking moment doing that work. Sure, we incorporate some of it into our time with her whenever we can, but we've had OTs and PTs and speech therapists and teachers of the visually impaired on our team, whose job it is to do that intense work.
What's so upsetting is that in solving T's mystery, there's no one else who'll do this work for us, or even help. It's up to us, my wife and me. And unfortunately, I'm not Matt Wilsey or Matt Might. I'm the opposite of them. My wife and I joke when someone messages me that they want to connect with me on LinkedIn, they have no idea how unlinkedin I actually am. I don't know people. I don't have connections. I don't come from crazy family money.
Curse Seth Mnookin.
But also bless Seth Mnookin. All along, while I fought to mentally close the mystery-solving chapter, I've had nagging doubts. I've tried to just be with Tess and say we didn't need to know. It's been like trying to enjoy Christmas vacation, when you know in the back of your mind you have a twenty-page paper to write. Deep down I knew I had shit to do. Mnookin's article only confirmed these thoughts for me.
Why does it matter? Why do we need to know? Why do the Mights and Wilseys? Because we could intervene, that's why. If there were some protein discovered to be lacking in someone with one of these rare diseases, and we could replace that protein, it could change everything. Maybe there's a dietary supplement that could stop Bertrand's seizures. Maybe there's a treatment to make Tess's GI tract settle down.
Matt Might gave a talk in fall 2014 at the Society for Glycobiology Conference. I watched the whole thing on YouTube. Matt is a few years older than me, but not much older. He's an affable, plain-talking sort of guy. In the video he's wearing a golf shirt. He looks like the sort of dude you could go out and have a beer with.
In his talk, he addressed the doctors who might be able to crack the mystery of Bertrand's illness. A graph appeared behind him, showing that now that we have whole genome sequencing, the number of known disease genes is skyrocketing. He said his family's experience can be repeated. We can move from the "dark night of uncertainty" to "the sunlight of science." Part of being in that sunlight, he said, was building a family and community of other patients. Above all, he urged the glycobiologists, "keep going! There's someone out there somewhere waiting for you to be their hero."
I want to reach through the screen and high-five Matt Might. I want to say Bertrand's name out loud to him, so he can hear it, the way people sometimes do to me with Tess. I want to tell him that I know how it feels to be in the dark night of uncertainty. I am currently living in it.
Here is what we are doing to get out of it and into "the sunlight of science": we're getting back in the game. I found a website called Makingcontact.org. It's run by a charity called Contact a Family, which supports families of disabled children. On the site you can create a profile and enter your child's symptoms. Ideally, you'll find other families with the same stuff going on, and you can connect with them. The thing is, the site is in the UK and it's mostly UK families on there. That's where Contact a Family is based. I haven't found anything similar in the US. I made a profile about Tess and left my contact info. For now there don't seem to be any profiles with her symptoms, but maybe there will be, in time.
More recently, I discovered Crowdmed.com. It was started when an adult named Carly had a mystery disease that was wrecking her life, and her brother Jared Heyman created a forum for crowdsourcing her case and other hard-to-solve medical mysteries. Patients submit their information, uploading medical records if possible, and then doctors from around the world take a look. Tess got rejected almost immediately. There are several paid levels, and we tried out the free version first. You probably need to pay to get somewhere. Besides, we hadn't submitted any of her genetic testing reports, other than the one that found the mutation, so I'm sure no one could try to guess what had been done so far for her. I'm collecting those reports and I plan to resubmit as soon as I can.
So thanks, Seth Mnookin. I never really cursed you.
And thank you, Matt Might and Matt Wilsey. I truly hope you succeed and figure out how to help Bertrand, Grace, and anyone else with an NGLY1 mutation. We will probably never meet, but I am with you.