Despite struggle, families find renewed hope
A Palo Alto conference gathers patients, scientists, researchers who are beating back NGLY1 deficiency
Grace Wilsey is an almost 8-year-old from Menlo Park who likes music and tech and splashing in the water. She’s also one of just 36 living people with the rare genetic disorder known as NGLY1 deficiency.
And her parents’ attempt to help their daughter through a condition that leaves many kids wheelchair-bound, developmentally delayed and, of all things, unable to produce tears is changing the way some doctors and researchers tackle rare diseases.
Matt Wilsey, Grace’s dad, is part of the prominent, wealthy Wilsey family of San Francisco. He’s also a tech entrepreneur familiar and comfortable with the startup life who also happens to have gigs at the White House and the Department of Defense on his resume. So when doctors told him and his wife, Kristen, that they weren’t sure what was wrong with their baby girl, his response wasn’t entirely traditional.
“Jump into the deep end and start swimming,” he said. “I’m not going to sit on the edge and wait for the raft.”
Wilsey was speaking at a hotel
along the El Camino Real in Palo Alto, just south of his alma mater, Stanford, at the fourth Global NGLY1 Conference, which the foundation he and his wife started, Grace Science, was sponsoring. Over the weekend, more than 20 families affected by the disorder gathered from around the world to meet each other, doctors and researchers and share everything from new science to treatment ideas, the first time so many had been in the same place.
One researcher was finally able to put faces to cell samples from two siblings in Orange County that he’s been working on in Japan. “They’re breaking down barriers left and right,” said Ann Marie Jennison, the mother of those kids, Charlie, 13, and Jane, 10.
That’s the Wilseys whole idea: Get the smartest people you can find to work together, and quickly.
A lot of big pharmaceutical companies and researchers are reluctant to wade into rare diseases, but the Wilseys have assembled a group of people who are willing to share what they know about their own small particular pieces of the universe and, in Silicon Valley parlance, iterate.
In the early days, Wilsey said, the team used the “anyone can cook” line from the animated film Ratatouille as inspiration. “A good idea can come from anywhere,” he said.
Carolyn Bertozzi is a Stanford chemist who got research funding from the foundation. “A lot of the ingredients were already in place to to make very rapid progress,” she said. There was already a network of scientists sharing information, there was access to actual patient information, not just theories, and there was a focus on listening to what families of children affected by NGLY1 deficiency had to say. “This is like from bedside to bench,” Bertozzi said. Typical grants from the National Institutes of Health? A little more bench to bedside.
The families are grateful. When Charlie and Jane Jennison were babies, doctors told their parents they thought the children had cerebral palsy. No one knew what was going on. “I’ll find out in heaven,” Ann Marie used to tell herself, in tears. When they finally got a diagnosis and connected with the Wilseys, it felt, she said, like they were finally “part of something big, special and groundbreaking.”
Or, as Jeff, her husband, is fond of saying: “If we have to be on a rare disease train, this is the one to be on.”
The doctors and researchers are energized by the Wilseys approach, too. Gregory Enns is the director of Stanford’s Biochemical Genetics Program, and regularly sees Grace Wilsey. “The interconnectivity here is unique,” he said, and there’s “crossfertilization of ideas.”
Perhaps more importantly, he and others are optimistic the approach could serve as a model for tackling other diseases.
The conference and the Grace Science foundation more broadly are in some ways the result of a perfect storm. The Wilseys have access to capital and know how to fundraise. They’re based in Silicon Valley. And the families affected by the disorder have turned to relatively new social media channels to find each other. (It was a viral blog post that initially connected several of the families, including the Wilseys.)
Wouldn’t it be great, Bertozzi mused, to be able to scale or “generalize” that model? Wilsey thinks it’s possible.
A lot of it has to do with creating a “healthy sandbox,” he said. “A+ talent wants to be with A+ talent.”
His team is in the process of launching a forprofit rare disease company he hopes will push research practices in the right direction.
Of course, not everything is figured out yet. There is no standard treatment or cure for NGLY1 and the conference was full of families battling tough circumstances. Many of the kids aren’t verbal. They often need hours of physical, occupational and speech therapy. Enns met one mother who hadn’t really slept in 14 years because she needed to rise every two hours to put drops in her kid’s eyes.
But there was a sense among attendees, parents and scientists alike, that momentum is building. “I think,” Enns said, “there’s always reason to be hopeful.”
For families who in many cases felt utterly alone for years, meeting each other felt like finding a lifeline. “A conference like this,” Jeff Jennison said, “definitely provides optimism.”