When Lindsay Randall’s son Arthur was diagnosed in 2018 with SLC6A1 Developmental and Epileptic Encephalopathy, there were only a few dozen known families worldwide. The condition had been described only recently and few clinicians had ever seen a case. Like many families facing an ultra-rare diagnosis, the Randalls found themselves in a space with little information, limited support and very few people to turn to.
Lindsay had retrained as a children’s nurse after ten years in the property sector and was working at Evelina London Children’s Hospital. Faced with the silence that often surrounds ultra-rare conditions, she and her husband Daniel decided to act. They formed Arthur’s Quest, a UK charity for families living with SLC6A1, focused on raising awareness and supporting research.
Over time, Arthur’s Quest evolved into SLC6A1 Connect UK-AQ, the UK chapter of the global SLC6A1 network first established in the United States. The UK group is now a founding member of SLC6A1 Europe. It acts as a bridge across families, clinicians, researchers and funders who might otherwise never meet. The group now supports family engagement, data-sharing initiatives and collaborative research that help make rare-epilepsy science more coherent and less fragile.
Lindsay’s dual perspective, as the mother of two children with SLC6A1 and as a Paediatric Practice Development Nurse in the NHS, shapes how the group works.
“Partnerships work when they make life easier for everyone involved,” she says. “Clinicians are busy, so we find ways to help: clear summaries, reliable data and families who are ready to engage. For parents, it’s knowing their voices actually shape what happens next.”
This practical approach has turned SLC6A1 Connect UK-AQ from a support group into something closer to shared research infrastructure. It gives researchers a single, trusted point of contact, helps families contribute data in a consistent way and keeps real-world experience visible when research questions are being framed.
What stands out is how ordinary much of the work looks: regular calls, shared spreadsheets, simple data templates. Yet these small steps change the rhythm of research. They create foundations that many formal systems still lack: coherence, accessibility and trust between the people generating evidence and the people living with its consequences.
For those working in rare-disease care, policy or research, groups like this highlight a broader shift. Patient organisations are increasingly part of the evidence-generation system, not only consultees. They connect families, clinicians and scientists, organise information in ways that make studies feasible and ensure lived experience informs the questions being asked.
Most research systems remain built around traditional investigator-led models that assume patients are participants rather than partners. SLC6A1 Connect UK-AQ challenges that assumption. It starts with the lived problem rather than the grant brief and invites the wider system to meet that reality. The result is a form of readiness that grows from persistence, shared language and mutual respect.
The Rare Disease Research Network, launched in 2024, reflects the same change by giving patient organisations structured ways to become research-ready and to co-develop ideas with investigators. Taken together, these efforts show that some of the most durable progress in rare-disease research may come from patient-led coordination that turns isolation into organised knowledge.
It is a quiet transformation, but it is changing how rare-disease evidence is generated and how trust is built. Real progress often begins when those closest to the problem create the space for everyone else to work better.
About Lindsay Randall
Lindsay Randall graduated as a children’s nurse in 2013 after ten years in the property sector. She worked at Evelina London Children’s Hospital across orthopaedics, neurology, cardiology and paediatric surgery before becoming Clinical Educator for Paediatric Surgery. Her first child was diagnosed with SLC6A1 Developmental and Epileptic Encephalopathy as a toddler, leading her to establish Arthur’s Quest, a UK charity raising awareness and supporting research for this ultra-rare condition. In 2020 her second child was also diagnosed. Arthur’s Quest is now part of a global network of parent-run organisations through SLC6A1 Connect UK-AQ.
www.slc6a1connectuk-aq.org