Last month I journeyed to California for the Global Genes Rare Patient Advocacy Summit.
Holy toledo. As soon as I got there, I realized I was surrounded by powerful people. Not in the sense of coming from influential families or wealthy backgrounds. These were everyday kinds of moms and dads, who were starting families, just doing their thing like everybody else, and then they had a kid with a rare disease. Affecting their legs or muscles or metabolism or brain. Some with heartbreaking prognoses, the type where the doc says your kid won't see age five.
These people didn't fold up and quit. They became powerful. They made themselves into a force.
For me, the entire summit was made up of crystallizing moments, the kind where I'm in a room with 400 people, and someone's speaking up on stage, and suddenly words come out of their mouth that seem meant uniquely for me. Time slows down. The room and the other people fall away. And in that moment, I've never listened so hard to anything in my life. Every word is truth. About Tess and what I need to do now. What I'm destined for. It's the voice of certainty.
This happened to me over and over again--in the big banquet hall with 400 people, and in the small groups with 20 people.
It became clear from the get-go that these other rare-disease advocates do stuff. They've started foundations, raised money, spearheaded collaborations across the globe, driven cutting-edge research into their kid's disease. I mean, I thought we were active and forward-thinking. But these people put me to shame. It's like, on their way to breakfast that morning, on their phone, they've already raised half a million bucks. I've used my phone to ping my friends and forward a dick joke.
Right away, I resolved to get on board. Find out what they were doing. The rules they live by.
And who better to tell me those personal rules than Matt Wilsey? I've talked about him on this blog quite a bit. His family was profiled in that New Yorker article by Seth Mnookin, the one that made my wife and me start our media campaign to find others like Tess. Without Matt's story, we would never have connected with the team at Baylor or learned that there are others like Tess. And it was Matt who emailed me and suggested I come out to this conference.
Just before my trip, I heard Matt Wilsey on a podcast that Global Genes puts on called Rarecast, in which he talked about why some close friends and family suddenly bail, essentially disappearing forever from your life when your kid has a rare disease. He said it's because they're uncomfortable living in a world where little kids get so sick, and they simply can't deal with it and find it easier not to.
On day one of the conference, I met Matt. He was super gracious. Approachable. Wanted to help. And then there he was, up on stage. The guy is relentless. His foundation, The Grace Wilsey Foundation, has raised crazy money to research NGLY1 deficiency, mostly because the dude has funded nineteen research teams to cure the disease. It was so awesome to hear from him. There's a reason he's gotten so much shit done. He had a ton of great insights. First, he said to find advisors--people on all fronts, from fundraising to PR to all the science stuff. Email them and learn from them. It's important for those advisors to be real believers in what you're doing, not just celebrities who'll tweet your stuff out. That's how to leverage your network, by finding those believers and asking for stuff. If you don't ask, you get nothing. So start having those conversations.
Above all, he said, you gotta be pushy. Especially when it comes to research. That's because we don't have time to wait. "We don't have 50 years to cure this disease. We have five years," he said. So you have to become your own research expert. "Don't wait," he told us. "Dive into the deep end." Look up all the scientific papers on your kid's condition. Read them. Email every author on that paper. Ask to be connected to other patients. Bring different teams of researchers together. If you don't like a doctor's opinion, go see someone else. If somebody's not moving fast enough for you, cut them loose. Find someone who will. Some of these doctors and researchers may not go for this kind of thing. Too. Bad. As Matt said, "If you aren't ruffling feathers, you aren't pushing hard enough."
This is a new paradigm. Gone are the days when doctors and research teams were driving the bus on cures and treatments. We parents and advocates have the keys now. It's patient-driven precision medicine. We have the internet and PubMed and Facebook. We can find each other and find researchers anywhere. I'll get back to this patient-driven idea a bit later.
Matt was asked why others should care about rare diseases, since each disease affects such a small percentage of the population. I have to admit, I've been stumped by this question lately. No one's come right out and asked me, but I've privately wondered how I can justify being aggressive about funding research on Tess's mystery disease, while hundreds of thousands die from cancer each year. Matt's answer? Scientists who work on seemingly small-impact problems like rare diseases often impact wayyyy more people than just those patients. Their discoveries can end up benefiting everybody. That's what happened with a little thing called X-rays. Another one called insulin. And something else you may have heard of called penicillin.
One last thing about Matt Wilsey. He encouraged us to start somewhere. Maybe you can't raise ten million or five million or even one million. But what about 80,000? It's something. It could pay two postdocs to work on your disease. In other words, start small. Get smaller grants in place, like for 25 or 50K. Give those teams short timelines, like three to six months to show you some evidence. If they can't, then move to someone else who will.
Listening to Matt, I identify with everything he says. All these things that I guess I knew deep down, things I'd suspected but wasn't fully conscious of, such as, "Can we be doing more? YES." "Can we drive this process, I mean really jump into the driver's seat and determine where it goes and how fast we get there? YES."
Later I keep hearing about this guy named Ethan Perlstein. A self-proclaimed indie scientist, who's doing models with flies, worms and yeast in his lab, a place called Perlstein Lab in San Francisco. Those models can be highly instructive--once you've figured out what's going on with your kid, which gene and all that, you can make that same thing happen in a lab with that gene in a fly and then try different stuff to make the fly get better. The fly gets better, then you know how to help your kid. During a break at the conference, I peruse Ethan Perlstein's blog. Within the first few words, I'm utterly baffled. Can't understand a word. And before long, I'm talking to Perlstein himself. He's young, mid-thirties, wearing a hoodie. At first I think I'm wasting my time and his. Not only am I unable to understand his work, Tess is nowhere near ready for this sort of modeling. That should come later, after the Baylor team has done more research and figured out some potential treatments, I figure. But I think about Wilsey's advice--not to wait, to jump into the deep end of research--so I stick around.
And then Ethan Perlstein says one of those things, where the room and everyone else fall away and I can't breathe for a second. Because he's saying he wants to connect with patient groups who are just starting out, to help them dramatically shorten their path to drug discovery. He shows me the back of his hoodie, where it says, "Leave No Mutation Behind." In other words, he's looking for newbie groups like Tess's.
When I tell Perlstein about Tess, he whips out his phone and looks up the USP7 gene. "It's not ancient enough," he says, showing me his search results. "You can't do it in flies, worms or yeast, but you could potentially do it in zebrafish." Unfortunately, his lab's not currently doing zebrafish, but he says he wants to get into those.
I feel disappointment come across my face. He sees it and gives me his card. I say I'll be in touch, but he says, "No, let's talk soon. Q4 of this year, in the next couple months." He's serious about the zebrafish, and he actually has a plan to get it up and running. He wants to move fast, just like we do.
This is part 1 of my posts about the Global Genes summit. Stay tuned for another post soon, bringing you part 2.
