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Connecting rare kids with rare bears
“Rare disease is a global challenge; we need to unite these families around the world.”
Meet Christina Waters, PhD, MBA
Geneticist Christina Waters’ mom had been close to losing her life. At first misdiagnosed, her illness was eventually identified. One day during her recovery in the hospital, she told her daughter, “I finally understand what you’re trying to do, and I want to help.”
That offer sparked an idea that led to a global effort of 5,000 people in 50 countries helping to unite families of children with rare diseases—or as Waters calls them, “rare kids.” As the Founder and CEO of Rare Science, a nonprofit research organization focused on accelerating and identifying therapies for rare kids, Waters had been seeking ways to connect these communities.
She responded to her mom’s offer of help by suggesting the creation of personalized teddy bears for rare kids. After her recovery, Waters’ mom enlisted her quilting cohort to help make the “Rare Bears”, which have become a catalyst for identifying and uniting rare families around the world. But to understand the genesis of the global “Rare Bear Army”, you have to get to know Rare Science—and Dr. Christina Waters.
Waters grew up on a farm, where seeing the role of genetics in agriculture inspired her passion for identifying and solving biological challenges facing communities. Her interest in genetics eventually led her to work on rare diseases at a private-sector research foundation. She discovered that while fields like oncology have been moving toward personalized medicine, there has been less of a focus on using genetics to help rare patients and rare kids.
“There are about 8,000 identified rare diseases, and as a whole they affect an estimated 350 million people—that’s one out of ten,” Waters explains. “The challenge of rare diseases is universal, but they affect very small patient populations, scattered around the world, so it’s hard to incentivize pharma to move into this space because of the risk.”
“Who would have thought that quilters were going to drive forward the first rare disease stem cell program?”
To meet this global challenge, Waters formed Rare Science. “We need to unite these families, looking at what’s similar and different across the individuals in those patient populations, so we can begin to build therapies to help them.”
The initial obstacle facing the organization was finding families around the world with the same rare disease, so there would be enough families to look at the biology. This is where the rare bears came in.
Thousands of quilters in many countries have been pitching in, using fabric remnants to create one-of-a-kind bears for these one-of-a-kind kids. Community groups help stuff and sew them. Each bear includes a serial number that allows Rare Science to identify the child who receives it. The “Rare Bear Army” connects rare families and communities, raising awareness of the diseases and creating patient-family groups for genetic sequencing to help understand the biology that can lead to therapies.
“Even though it may not fit with the way things are done now, if it’s in your heart, you should do it.”
Another obstacle is: once families have their kids’ genes sequenced, what can they do with the information?
Waters cites this story to illustrate: a family whose daughter had been misdiagnosed with cerebral palsy until her late teens (kids with rare diseases go undiagnosed or misdiagnosed on average for 7 to 8 years) finally learned what the gene mutation was, but wondered, “what happens next?”
Thermo Fisher Scientific, together with the California Institute of Regenerative Medicine, provided Rare Science with the tools and resources to collect tissue and blood samples from the community of that disease in five countries. They then created stem cells to target affected tissue, and provide support for researchers to study the biology of the disease. “The goal is to build functional assays and potentially repurpose currently approved drugs, offering some help where before there was nothing,” Waters explains.
“So the model works, and it’s fascinating. Who would’ve thought that quilters were going to drive forward the first rare disease stem cell program? Now our goal is to figure out how we can scale the model through our relationships in the community.”
Waters reflects that when she was planning Rare Science, some said, “that’s not gonna work”—it turns out bringing together community and science is as rare as the kids she’s driven to help. “In the science world, we’re trained to do things in a particular way. What you want to do may not fit in with the way things are done now—but if it’s in your heart, you should do it.”
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