Jackie Foster, President of HOPE for Harvey Foundation, Inc, a Texas mother, turned her son Harvey’s ultra-rare diagnosis in 2021 into a research movement. “You can take a devastating diagnosis and pave the way toward a targeted treatment in an unprecedented timeframe,” she states. “A mother’s persistence, not wealth or credentials, can change the trajectory of a disease.”
More than 250 million people worldwide live with a rare genetic disease, yet to date, approximately 95% of those conditions still lack established treatment pathways. As a result, families facing an ultra-rare diagnosis may encounter a healthcare landscape where published research is limited and established support systems are still evolving. Increasingly, those same families are becoming active contributors to scientific progress, helping accelerate research through grassroots efforts.
Foster says, “Parent-led organizations are proving that meaningful change often starts at home. Networking, emailing researchers, asking for meetings, and running grassroots fundraisers are the backbone of a successful non-profit organization. It doesn’t matter where you’re at in the journey; every step, no matter how small, can be just as impactful.” Their work, in her view, is helping reshape how rare diseases are researched and supported, creating opportunities that may one day reach families still waiting for answers.
Foster’s son Harvey was born in Seattle in March 2020, shortly before the COVID-19 pandemic reshaped healthcare systems worldwide. As the months passed, Foster recalls that the developmental milestones that many parents eagerly anticipate never arrived; no head control, no crawling, a right arm that wouldn’t cooperate.
Specialist appointments, imaging, blood work, and neurological evaluations gradually filled the family’s calendar as doctors searched for answers. After nearly a year of testing, Foster notes that Harvey received a diagnosis of DLG4-related Synaptopathy, an ultra-rare genetic condition that left Foster confronting a future with very few established answers.
“I remember asking whether there was any hope that emerging genetic technologies could one day help my son,” she recalls. “The answer was that there wasn’t anything available. There really weren’t resources to support us. I couldn’t accept that there was nothing left to investigate.”
Instead of viewing the diagnosis as the end of the conversation, Foster treated it as the beginning of one. She started contacting researchers, asking questions and seeking every opportunity to learn more about a condition that had only recently begun appearing in medical literature.
Her son’s story exposed a reality shared by countless families living with rare disorders. She notes that many children with profound disabilities remain largely unseen because everyday activities that others take for granted can become extraordinarily difficult. Foster says. “Every day involves therapies, specialist appointments, and constant caregiving. Unless you’ve lived it, it’s hard to appreciate just how much families are carrying.”
After watching these moments unfold, Foster became an advocate, driven by the belief that persistence could offer more possibilities than resignation. HOPE for Harvey emerged from that very philosophy as a long-term commitment to helping create opportunities that may benefit families navigating similar diagnoses in the future.
One lesson became increasingly clear as HOPE for Harvey grew. Foster realized that meaningful progress depends on people sharing knowledge instead of working in isolation. She believes one of the greatest challenges facing the rare disease community is fragmentation. Families, clinicians, and researchers are often pursuing the same goal from different directions, while valuable knowledge often remains scattered across institutions and borders.
“Researchers now are becoming more collaborative because they know children aren’t getting treatments if everyone is working separately,” Foster says.
Technology, she adds, has accelerated that shift. According to Foster, social media has enabled families to connect across continents, exchange experiences, and introduce researchers to one another in ways that would have been almost impossible only a few years ago.
She highlights that grassroots organizations, many led by parents with no previous experience in scientific research, are helping create networks that continue expanding long after a fundraiser ends or a campaign concludes.
HOPE for Harvey itself reflects that evolution. Foster credits much of the Foundation’s momentum to a community willing to support each milestone, whether through donations, sharing Harvey’s story, or connecting the family with people who could offer guidance.
“We’re really just a mom-and-pop foundation,” she says. “Our fundraisers have been run by family members and friends. Social media has allowed us to connect with people who believe in what we’re trying to achieve. Every person who shares our story or gives what they can is helping move us forward.”
Knowledge, she posits, itself has become another form of progress. When Harvey was born, Foster recalls that published medical literature about DLG4-related Synaptopathy was extremely limited. More than a year passed before the first paper describing the condition became available, giving clinicians a stronger reference point for understanding children like Harvey. Foster believes that experience demonstrated how quickly the rare disease landscape is changing and why every published study and shared insight carries value far beyond a single family.
“Knowledge shared today could completely change another family’s future tomorrow,” she says. “Somebody else may receive a diagnosis with information that simply didn’t exist when Harvey was born.”
Foster hopes that momentum continues through stronger infrastructure supporting rare disease communities. She believes sustainable progress depends on building resources that future families and researchers can continue using long after one individual project reaches its conclusion. Patient registries, documented clinical knowledge, research tools, and long-term organizational support all contribute to a stronger foundation for future discoveries, she notes
Foster also wants parents who are standing at the beginning of their own journey to recognize that determination can carry extraordinary weight. “There will always be people who think it’s impossible. You have to stay focused on what you believe is possible and keep showing up,” she adds.
Foster hopes more people will become part of that movement in whatever way they can, whether by supporting organizations dedicated to rare diseases, like HOPE for Harvey Foundation, sharing stories, providing donations, or just learning more about conditions that often remain invisible to the wider public; she states are equally important.
She remarks, “Every small difference creates a bigger impact. Whether someone gives five dollars or starts advocating for their own child, it all matters. You never know whose future that effort might change.”
