From Diagnosis to Discovery: One Family, a Scientific Community and a Search for Answers for a Rare Disease
After their daughter was diagnosed with GNAO1, a rare neurological disorder, one family helped build a global research community advancing scientific discoveries and hope for future treatments.
When Emily and Stephen Bell talk about their daughter, Madeleine, they move carefully between description and devotion.
Their oldest child is now 11 years old. “She is physically like a four-month-old,” Emily Bell said, describing the profound impact of GNAO1, a rare genetic neurological disorder. “She has a beautiful smile. She suffers horribly from this condition.”
Madeleine cannot speak, requires a feeding tube, and lives with seizures and a severe movement disorder. Life for the Bells revolves around her care, even as they raise three younger children alongside her.
Madeleine’s diagnosis reshaped their lives. What followed proscribed a new purpose.
Searching for Answers from Dr. Google
Madeleine’s symptoms began when she was just 5 weeks old. But answers were slow to come.
“At that point in time, you couldn’t see a geneticist for nine months in our children’s hospital system,” Emily said.
By the time she was diagnosed, more than a year later, the Bells found themselves confronting a rare disorder and a near absence of reliable information.
“When you get that diagnosis, you’re thrust into a situation where your first turn is to Dr. Google, and it turned up a handful of medical papers,” Stephen said. “At the time, doctors and scientists really didn’t know much about the condition.”
The dearth of information prompted the Bells to look outward, to the medical research community and other families whose lives had been affected by GNAO1. They founded the Bow Foundation with modest aspirations.
“We were originally going to start just supporting one research project,” Emily said.
But the more they spoke with Alice Fox, now co-chair of the foundation and whose son has GNAO1, the more their scope expanded.
“We realized this could and should be bigger than just our two families,” Emily said.
The Bow Foundation has since grown into a global hub for research and connection, now linking roughly 500 families worldwide.
“It’s about building a better tomorrow. It’s about forging relationships with researchers,” Stephen said. “It’s also about creating a better landing zone for the families who have this disorder and don’t know where to turn.”
At the same time, the organization has become a force in advancing science. It funds investigative work, directing more than $1 million dollars to researchers since its funding, convenes experts during an annual conference and connects investigators across borders.
“One of the biggest scientific things that’s happened is we’ve actually got people interested in the condition,” Emily said. “We actually have people researching, connecting and collaborating.”
When Families Meet Scientists
Among those researchers is Kirill Martemyanov, Ph.D., chair of the Department of Physiology and Biophysics at the University of Miami Miller School of Medicine. Dr. Martemyanv’s work on G proteins has moved from foundational biology to disease-focused discovery.
“We first met him in 2018,” Emily said. “One of the families in our community reached out to him was like, ‘Hey, are you familiar with this condition? Are you interested in it?”
And they happened to find just the right person, as Dr, Martemyanov had been studying GNAO1 for nearly two decades. Dr. Martemyanov attended one of the first conferences organized by the Bow Foundation in 2019and discovered a mutual ambition.
“He’s motivated by a shared desire to build a better tomorrow for the patients that have this disorder, and for the community that we’re trying to build,” Stephen said of Dr. Martemyanov. “It’s one thing to work with a researcher. It’s another thing to work with someone who cares.”
For Dr. Martemyanov, the connection to families the Bow Foundation introduced reinforced the reasons for his work.
“I am a basic scientist. We study things for the sake of studying them,” he said. “But GNAO1 causes this devastating pediatric disorder and makes the connection of what you are studying out of abstract curiosity to the real world. That changes your perspective. The things that you’ve been studying are no longer abstract. Those are real and people are in need for you get the answers.”
A New Understanding of the Disease
That evolving perspective is reflected in Dr. Martemyanov’s recent research, including a study published in Movement Disorders that advances scientific understanding of GNAO1 at the level of brain circuitry.
In that work, his research team developed a specialized model that allowed researchers to examine how specific mutations affect different regions of the brain. The findings revealed that dysfunction in the GNAO1 gene disrupts signaling in distinct neural circuits responsible for movement and seizure activity, helping explain why patients can experience a wide range of symptoms. The study also demonstrated that targeting those disrupted pathways with drugs could improve symptoms in the preclinical model. That served as a foundation for the ongoing clinical trial on testing these interventions.
For families, the implications are significant. Dr. Martemyanov’s work offers a clearer roadmap. But even with these advances, the Bells remain clear-eyed about the timeline.
“I think there’s hope,” Emily said. “But I don’t think we’re to a treatment yet. We don’t know if we’ll see a treatment in Madeleine’s lifetime. We hope so, obviously, and that’s what we’re working towards.”
“That can be disheartening. But at the same time, it is encouraging when you find partners like Kirill who want to work with you to get to that better future together,” Stephen said. “These nascent research projects are so foundational for steps that come later.”
A Global Community Comes Together
That progress and the collaboration behind it culminate each year at the foundation’s international conference.
This year’s meeting, set for June 19 to 20 in Orlando, will bring together families, clinicians and researchers from around the world. Dr. Martemyanov will be in Orlando this year with a team of researchers. For him, the event offers a chance to translate science into meaning.
“Every year we update the families with what we learned during the year,” he said. “The first time you go in front of families and the kids is very, very profound. It gives meaning to the things you’ve studied. This is why I’m a scientist.”
“For people like Kirill’s team, to meet the kids in person, and to meet the young adults who they’re working for, I think it’s really beautiful and beneficial for everyone,” Emily said.
Tags: Bow Foundation, Department of Physiology and Biophysics, Dr. Kirill Martemyanov, Miller School of Medicine