Christine and Douglas were living their dream life in California. They had two beautiful children, jobs at an animation studio and owned a stunning home in the Berkeley hills. It was their own personal retreat, complete with a creek and wooded area as you approached the front door.
But their sense of serenity changed quickly when a rare disease called GM1 gangliosidosis came into their lives.
It started when their daughter, Iris, began falling out of her chair in preschool.
“She seemed to be uncoordinated, but her mom and I were both enormously unathletic people, so we didn’t think too much of it,” Douglas remembers.
Then, her grandmother noticed that she seemed to be struggling with talking. When they raised the issue with their pediatrician he brushed it off, saying, “Forget it, don’t worry about it. She’s fine.” But by her fifth birthday, he was also worried.
The diagnosis that changed everything
In the journey to find answers for Iris, Douglas quit his job to be able to work from home and spend more time visiting doctors. On his 40th birthday, his new company shut down. Five days later, they received Iris’s diagnosis: GM1. He immediately became a full-time, stay-at-home dad.
GM1 is characterized by having enzymes that don’t protect the brain from proteins. Slowly, the brain begins to degenerate, and children have frequent seizures, up to 70 per day.
The diagnosis was sudden and unexpected. In a previous visit, the neurologist had brushed off an anomaly on an MRI saying that they were still getting used to the new machines that had higher levels of detail. It was probably nothing. Because of that, Douglas was the only one at the diagnostic appointment and had to put his head between his legs to not pass out. He was in shock.
“What are we going to do about it?” he asked the neurologist. He couldn’t believe when he heard the awful words back: “There’s nothing.”
Christine was equally shocked when she learned the results. She cried for months and was throwing up in her trash can at work. She dealt with it by spending countless hours on Google searches. On page 15 or so of search results, she found that scientists had done a test with cats. But truly, there was very little out there in terms of research.
Making a difference, one step at a time
In the face of so much uncertainty, Douglas and Christine took action.
They joined AllStripes, a platform that allows rare disease patients and families to store all their medical information in one place and easily make it available to researchers.
“It’s important for patients to engage in the drug development process, and this was an obvious way to do it,” Christine said. “We knew of situations where medical records weren’t being shared. We feel that increasing the understanding and awareness of the disease, and anything we can do to facilitate that, is worthwhile.”
They also started a foundation, Cure GM1 Foundation, to raise money for GM1 research.
Using his background in animation, Douglas was able to make some stand-out content that told Iris’s story and explained more about GM1. Their initial goal was raising $50,000, but they have now raised over $3 million with help from other GM1 families.
“You can make a difference. We’re not billionaires. We’re pretty regular people,” said Christine. “You have to take action in order to make a difference. The more you share, the more it’s possible to find people who are like-minded and who want to help make a difference. If you don’t share or take action, then how could you possibly expect people to join you?”
They have already funded one clinical trial that treated six children and have three more planned for this year. They’ve started a patient registry. They’re now working with biotech companies and the FDA.
Christine oversees the foundation on top of another full-time job.
“The foundation has been a way to channel our grief into something positive,” she shares. “It’s also a great way to learn. There are so many things you need to navigate: the science, contracts, advocacy, fundraising, family support.”
The disease has changed their lives completely. They’ve left their house in the Berkeley hills to be in a new neighborhood with a school with a special needs program. They spend countless hours on the phone battling red tape with doctors and insurance companies.
But they wouldn’t change it.
“Iris has a charm that is particularly unusual. People just really adore her. She looks at you with such a big smile that people just fall in love with her. In that sense, it’s been easy,” Douglas said. “We have a lot to thank for Iris’s smile. She has charmed everyone into finding a cure.”