Geoff Rhyne never intended to become an advocate, much less dedicate his life to working on behalf of families like his. But that all changed in 2019 when, after dozens of tests, he and his wife Kelly's daughter, Ella, then 2, was diagnosed with Kleefstra syndrome (KS).
A deletion or mutation of the EHMT1 gene on chromosome 9 causes the rare genetic neurodevelopmental disorder. This disruption affects the brain's development and function, resulting in several neurologic symptoms, including intellectual disability, limited or absent speech, seizures, and sleep disturbances. Patients also can have low muscle tone and sometimes autism spectrum disorder.
In the earliest days following Ella's diagnosis, Rhyne did what many parents in his position do: he dove into scientific papers, found online support groups, and did late-night Google searches about the condition. But the food and beverage entrepreneur from Greenwood, SC, found little information available, as this complex condition that can be difficult to recognize and even harder to treat affects fewer than 500 individuals in the United States.
Rhyne realized he couldn't rely on anyone else to lead the charge and find ways to help patients like Ella. Along with a group of other parents he met who were navigating the same overwhelming diagnosis, Rhyne co-founded IDefine, a nonprofit dedicated to advancing research and community support for those with KS. The grassroots effort didn't begin with deep scientific knowledge or institutional backing but rather from a handful of determined families who asked questions, reached out to experts, mobilized their communities, and refused to be ignored.
This March, IDefine announced a $300,000 commitment to Boston Children's Hospital to launch a three-year study to better understand the course this condition takes. That understanding is important for guiding the design and conduct of future clinical trials.
With this study, KS became the first condition enrolled in Boston Children's newly established ACTION (Accelerating Clinical Trial Readiness Innovations for Monogenic Neurodevelopmental Disorders) initiative, a program designed to streamline data collection and reduce the burden on small, family-led advocacy groups.
That distinction is not lost on Kira Dies, ScM, CGC, executive director of the hospital's Rosamund Stone Zander Translational Neuroscience Center. “Rare disease families are stepping in to fill a gap,” she says. “They're not just raising awareness—they're mobilizing their community, driving research, funding early-stage studies, and identifying clinical priorities for their kids.”
A Growing Community
As a licensed genetic counselor, Dies has spent decades working closely with families of children diagnosed with rare neurologic conditions, including tuberous sclerosis and newly identified genetic syndromes. Her work at Boston Children's has focused on creating a model for translational research that brings together families, clinicians, and scientists to speed up discoveries one diagnosis at a time.
“We realized early on that we can't wait for the industry to care about these disorders,” she says. “They're too rare. But if we create a strong research infrastructure in academia through collaborating with patient advocacy groups, we can accelerate clinical trial readiness.”
When the system doesn't move fast enough, family members like Rhyne often take the first step. Elizabeth Brasfield Scott and her daughter, Liza, did the same after Liza, then 7, experienced a massive seizure. Doctors discovered she had three rare malformations in her brain: a schizencephaly, a cleft in the brain that occurs during fetal brain development; an arteriovenous malformation, an abnormal tangle of blood vessels; and a dural arteriovenous fistula, which involves faulty direct connections between a vein and an artery.
Scott knew they needed expert care, and fast. But the hospital near their hometown of Homewood, AL, didn't have the resources to treat such a complex case, so Liza would need to head to Boston Children's for proper care. While insurance would cover most of it, Scott, a single mom to Liza and son Finnley, still had out-of-pocket medical expenses as well as travel costs to pay for.
Before her diagnosis, Liza had started a small lemonade stand as a fun way to pass the time and save up for toys. But after her seizures began and her schooling was put on hold, she came to her mom with a new idea: using her lemonade stand to help pay for her medical care.
Scott agreed, not expecting it to raise much but knowing it would give Liza something to focus on during a scary, uncertain time. Using her background in public relations, Scott launched a social media page, “Liza's Lemonade,” to share updates, answer questions, and eventually raise funds to support their travel to Boston. The story quickly went viral, catching the attention of national media outlets like “Today” and “Anderson Cooper 360.”
Donations, gifts, and encouragement poured in from around the world, but what moved Scott most wasn't the headlines: it was the heartfelt messages from other parents, caregivers, and children facing similar medical challenges. Having a critically ill child can feel incredibly isolating, but suddenly, Scott found herself part of a growing community built on empathy, love, and understanding. It was a place where families who once felt alone now had each other.
Sharing Their Stories
In Scott's case, advocacy didn't start with a nonprofit or a clinical trial. It began with being a mother—and trusting her gut. When local doctors tried to send Liza home after her first seizure, Scott refused. She knew something was deeply wrong and insisted on further evaluation even when she met with resistance. That decision, she says, ultimately saved her daughter's life.
That fight hasn't stopped. Scott's story illustrates another kind of grassroots advocacy: using storytelling as a means of survival. She advocates online, in her community, and one-on-one with other parents by sharing knowledge, resources, and specialist recommendations. She also simply checks in with other families as a source of empathy and support.
“There's this image of advocates as lobbyists in suits,” she says. “But sometimes, it's a mom with a wagon full of lemonade doing everything she can to make sure her child is seen.”
What binds advocates like Rhyne and Scott is their refusal to accept the status quo. But their success often depends on their ability to connect with institutions willing to partner with them—not just politely listen. That's what the ACTION initiative aims to do: reduce the barriers to entry for families who want to fund or contribute to research but don't have the millions it often takes to do it alone.
“Most parents don't start out knowing how to fund a natural history study, start a nonprofit, or navigate the NIH [National Institutes of Health],” Dies says. “They can be overwhelmed and need guidance and support.” ACTION tries to make it easier to share infrastructure across various disorders, she adds: “Instead of every group having to reinvent the wheel, we create a blueprint that they can plug into. That's how we make progress faster and collaborate across similar rare disorders.”
In some cases, grassroots efforts can grow into powerful movements. In 1984, a small group of families founded Families of Spinal Muscular Atrophy, a volunteer organization now known as Cure SMA that was dedicated to funding and promoting research on spinal muscular atrophy (SMA). Just two years after its founding, the organization established a scientific advisory board and medical advisory council that included medical and scientific experts. Today, Cure SMA has 37 volunteer chapters across the United States and has helped ensure that every U.S. state screens newborns for SMA—a milestone that allows babies born with the condition to receive early, often life-saving treatment for what was once considered a fatal disease.
One of the newest rare disease movements gaining momentum is led by parents of children with MED13L syndrome, a genetic neurodevelopmental disorder that affects brain function, language, cognition, and motor development. Caused by mutations in the MED13L gene, the condition can lead to global developmental delays, intellectual disability, speech impairment, hypotonia, and, in some cases, seizures or autism spectrum disorder.
Chicago resident Katie Barry Boychuck, partner and in-house counsel for BJB Properties Inc. and mother of a child with MED13L, has seen firsthand how families can turn an uncertain diagnosis into collective power. After her youngest son, Collin (she and her husband, Mike, also have two older sons, Mac and Jack), was diagnosed in 2022, she joined a small but growing network of parents working to transform the MED13L Foundation LLC from a support network into a mission-driven organization focused on raising awareness, advancing research, preparing for clinical trials—including building a database—and fostering international collaboration.
“You feel completely powerless when you get that diagnosis—your doctor hasn't even heard of it,” says Boychuck, who now chairs the group's board. “But we do have power. Telling our children's stories is how we educate the world. It's how we improve their clinical care.”
Seeing Results
Not every advocate starts a foundation, works to fund a research study, or takes their fight to legislators. Some, like Scott, opt for personal impact over paperwork. While she thought about starting a 501(c)(3), the legal, financial, and logistical factors were barriers. Instead, Scott focuses on sharing Liza's story so other families going through the same thing can find hope.
The nonprofit model worked for Rhyne, but only because of relentless persistence and a willingness to dive headfirst into an entirely new world. After Ella's diagnosis, he learned everything he could about existing KS research, who was leading it, and where the gaps were. He discovered organizations based in Canada and the United Kingdom, as well as some promising work underway in the United States. But with no patient organization in the United States focused on KS at the time, he saw an opportunity.
Rhyne started with the basics. He Googled “how to start a nonprofit” and picked up the phone to call a local law office. They didn't handle nonprofit work but connected him to a lawyer who did. He then learned he should enlist a fiscal sponsor to ensure financial compliance, and he combed through LinkedIn to find experts in other nonprofit organizations to reach out to for guidance. These connections eventually led to filing the paperwork for 501(c)(3) status and laying the legal foundation for what would become IDefine.
The organization held its first fundraising initiative on Kleefstra Syndrome Day (Sept. 17) during the COVID-19 pandemic in 2020. Focused on establishing a center of excellence for KS in the United States, the event raised $100,000 to fund the KS clinic at Boston Children's Hospital. Since then, IDefine has hosted a range of creative, community-driven events, both in person and virtually, to raise money and spread awareness in everyday moments. This includes a golf tournament, karaoke activity, and the North American Kleefstra Syndrome Family Conferences, which brought together families and researchers from around the world for shared learning and connection. Each effort plays a part in funding research, building visibility, and connecting families who might otherwise feel alone.
Rhyne also searched LinkedIn for scientists studying KS and related neurodevelopmental disorders. When he found someone with expertise, he messaged them and asked to talk. That's how he connected with Dies as well as Siddharth Srivastava, MD, a pediatric neurologist at Boston Children's and an assistant professor of neurology at Harvard Medical School. Now a key research partner, Dr. Srivastava is lead investigator in the clinic and in a multi-year natural history study IDefine is helping fund.
Rhyne began treating the work like a full-time job, sending messages, scheduling Zoom calls, and reading through scientific publications. When he didn't know something, he asked. “Start with your story,” he says. “Your story is your power. Then find your people—other parents, doctors, researchers, anyone who will pick up the phone. Ask questions. Send emails. If one person says no, find another who says yes.”
Today, IDefine has grown into a formal nonprofit with an international network of families, a robust research advisory board, and a direct partnership with Boston Children's to fund that study. This is a critical step toward clinical trials—and none of it would've happened if Rhyne hadn't asked that first question. Now 7, Ella is not just the inspiration behind it all—she's the reason this movement exists.
“We're building something bigger than one diagnosis,” Rhyne says. “We're proving that small communities can make big things happen.”
Other institutions have stepped up to support the work of families like theirs. Akron Children's, in Ohio, recently received a donation to create a rare disease program in its neuroscience center. And at the University of Pennsylvania, the Orphan Disease Center facilitates and funds research for a variety of disorders that each affect less than 200,000 people.
Now almost 12, Liza continues to defy the odds, with five brain surgeries behind her and her unbreakable spirit still intact. She does still have seizures, however, and must continue to undergo tests and treatments to figure out the next steps. Her mom shares updates online through the Facebook pages “Liza's Lemonade” and “Her Crumbs His Cross—Elizabeth Brasfield Scott” so others can follow along. Scott also helps behind the scenes, responding to messages and reminding new families that they're not alone.
“You don't have to start a movement,” Scott says. “Sometimes you just have to say, ‘I've been there. I see you. Let me help.’ That's where change begins.”
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