We are in the thick of it. We took the jump, my wife and I, and are actively trying to solve the genetic mystery of our Tess. If you've been following this blog and my podcast, then you know -- she has an undiagnosed disease. We took her list of symptoms and her specific mutation, and threw those up on the internet. And said, okay internet, do your thing. And the internet so far has blown us away.
Okay, quick recap. You might recall from my last post that a guy named Seth Mnookin wrote an article for The New Yorker last summer, 2014. It was about a kid named Bertrand Might, who had a rare and undiagnosed disease, one that involved tons of seizures, and also the inability to make tears, literally. Mnookin's article told how Bertrand's family, the Mights, were able to connect with the Wilseys, whose daughter Grace had similar symptoms. The article went on to say that the Mights and Wilseys have since found even more families, started foundations, and raised awareness all over the place, not only for their children's disease, NGLY1, but rare diseases in general.
Well, Seth Mnookin's article is what made my wife and me decide not to give up on solving Tess's genetic mystery.
And after that, Matt Might, one of the dads from the article, got in touch with me. Matt's a computer science guy. He teaches at Harvard Med School, and also at the University of Utah. He has an entire sort of program. It's designed to help parents use social media in order to find other parents whose children have rare diseases.
He sent me a link to his instructions. Their title is Discovering New Diseases with the Internet: How to find a matching patient. His idea is you have your kid's genome mapped. If that sequencing comes up with something that's already associated with a disease, then your journey ends. The disease has a name, and potentially already treatments and medications. But if the sequencing comes up with a variant or mutation of unknown significance, or in other words, we don't know what it means, then a new journey begins. You head to a lab and do these costly studies in cells, to try to link your kid's mutation to the symptoms that they have.
So with Tess, we'd have a team of doctors look at cells or genetically modified organisms, and try to link the mutation in Tess's USP7 gene to her developmental delays, and intellectual disability, and hypotonia, et cetera. Matt's point is that these sorts of tests are crazy expensive and pretty much never gonna get covered by insurance. So what can you do? Find a second patient. Another person out there in the world who has the same mutation and the same symptoms. Then you can confirm that diagnosis and start to build a community.
Matt Might says that the way to do this is to create what he calls a "reverse dragnet." What's that? It's essentially a online beacon that you set up, using just the right words, so that when other families Google their kid's disease, they find you.
So Matt's instructions are a step-by-step, all about how to make a webpage, how to lead other patients to you so you can connect with them. Now, if you know me, you're aware that my medical knowledge is approximately zero. I don't do well with jargon. My eyes glaze over, and I usually find myself saying, "Dumb it down about four levels for me, doc."
And the beauty of Matt Might's instructions is this: he keeps it very simple. All the bizarre verbiage in Tess's genetic reports, where there are weird periods and greater-than signs, and it's truly another language? He tells you exactly what to do with all that text. He links to other parents' pages, as shining examples of these sorts of reverse dragnet pages. He tells you how to edit Wikipedia, in order to get your kid's info on the Wikipedia page for their gene.
I'm not sure you can fully grasp what this meant to our family. We had been struggling. None of us knew what to do about Tess, the fact that we don't know. When you have a child with a rare disease, the unknown, the unsolvedness, gets into your bones. Finds its way into your nights and shakes you awake. Every time you look at your kid, it's there, maybe not at the front of your mind, but it's there--that you have no idea how to help them. And that after a while, once you've exhausted your genetics doctors, no one is working on it for you anymore. It makes you insane, how willing millions of people are to share a cat video, but that same network of sharers won't help you get to the bottom of something that really matters, like your kid's health or lifespan. And then we heard from Matt Might. His was a voice saying, "No, you're not crazy. No, it isn't unreasonable to want an answer. And yes, it's possible to get one. And yes, you're gonna use exactly that same network that shares cat videos."
So we did. We did exactly what Matt Might said to do. We made our page, all about Tess, and her USP7 gene, and her symptoms. We were sure to put a link to share on Facebook and also how to email us with any info. And within a couple of hours, the thing went viral. I was expecting a couple hundred views, maybe a handful of shares, just among my Facebook friends. But that isn't what happened.
Several thousand people saw the page, within that first day. I started doing the math, and realized that we had moved beyond my Facebook friends and my wife's friends, and beyond their friends, and now we were in the hands of strangers.
Here are just some of the awesome connections we made:
I got an email from Matt Wilsey. His family and his daughter Grace were featured in Seth Mnookin's New Yorker article. He was super cool, pledged his support and even offered to get on the phone with me to talk rare diseases. He even invited me to something, which I'll get to in a bit.
I found out about numerous services and agencies devoted to rare diseases and getting answers for families, such as Unique, Genome Connect, and Global Genes.
I even heard from a number of other parents whose children have had undiagnosed diseases. Many were still looking, still hoping, while others told success stories, about how they lived in the dark for years, only to have a breakthrough, a researcher who cracked the case, and also the discovery of other families. Without exception, these families were supportive and sincere, hoping for success for Tess.
One thing that hasn't happened yet is hearing from another family. I'd love to find just one other person who has this.
But even if we do find another patient, the question is: what's next?
And Matt Might has the answer. He gave a talk at Harvard Med School this past June. It's about what's called Patient-Directed Precision Medicine. Matt speaks for about 45 minutes. If you're out there, and you're a parent of a kid with a rare disease, I urge you to watch the whole thing. It's like the end of the movie Hoosiers, or Rudy, where by the time the credits roll, you're on your feet, cheering at the screen.
But anyway, what's so great about this video? Welp, Matt Might is a computer science guy, remember? And the way he approaches his son's disease is very much like the way computers work. If we aren't getting what we want from pharmaceutical companies and from our own medical providers, if they won't help us, then can we help ourselves? Can we hack patient care in a way to get our kids what they need? For example, with his son Bertrand, Matt started to wonder: can we replace the enzyme that Bertrand is missing? Can we deliver it to the cells? The enzyme is called NGLY1, and it goes for $402 on the internet. He looked it up and you can actually buy yourself some. But that four hundred bucks only gets you ten micrograms. To buy enough for Bertrand's needs, Matt would need to spend two million dollars a week. A liiiiittle too steep. But possible, at least, right? The enzyme is out there.
Then Matt talks about another problem, almost a hack of a hack. Even if you could afford to drop that kind of cash and get enough of the enzyme, you still have to get it into the right part of Bertrand's cells. And he talks about how you'd harness the viral power of HIV--not the bad stuff, just the part that makes it spread--and essentially manufacture a mechanism that puts the enzyme where it needs to be, location-wise in the cell.
Here's another way Matt puts the patient in the driver's seat: get on social media, contact experts about your kid's gene or enzyme or whatever, and ask those experts, "If you had this disease, what would you do?" And take their answers--for example, a list of 32 compounds that could potentially help Bertrand--and work your way through the list, and see what happens.
So it's these creative solutions, these ways of re-envisioning the process, talking about using this certain input and getting this certain resulting output, that make my wife and me really juiced.
For example, In the video, Matt tells a story about realizing that there could be a deficit of these certain saccharides in Bertrand. He found the saccharides on Amazon. They arrived, in a bottle, and he tasted it. And then he gave some to his son. Recall that part of Bertrand's disorder is that he can't make tears. His eyes don't produce any. And three days after Matt gave him this sugar, Bertrand cried his first real tears.
We are optimistic, but cautiously so. I realize that it's not a great idea to monkey around with Tess, adding compounds and stuff without knowing what the hell we're doing. I also realize that we might decide to monkey around and actually not get any results. But what matters is that these things are possible. We don't have to just sit here. We need to try stuff. We need to find more patients, and get going.
So Matt Wilsey. One of the dads from the New Yorker article. This month, in a few weeks, I'm flying out to Huntington Beach, CA, just south of LA. There's a patient advocacy summit put on by the Global Genes project, a rare disease advocacy group. Matt Wilsey is on the board of Global Genes. He invited me to the summit, and he's gonna be there. And hopefully a bunch of other parents. The summit will give us parents the tools we need for all sorts of next steps, all these things that can help Tess. Like to get research and funding for our kids. To pursue legislation where necessary. To start and grow nonprofit organizations, like foundations for these various diseases. And to build online communities.
I can't wait.