Queen Square Advances in Mitochondrial Medicine
First stop was London’s Queen Square Advances in Mitochondrial Medicine meeting, bringing together leading clinicians and researchers from across the UK and Europe. Alongside updates on cutting-edge research and NHS diagnostics, the agenda included a slot for Katie to present findings from our first-ever piece of Lily‑led research.
Our national study explored how patients and families experience receiving a mitochondrial disease diagnosis – an area too often overlooked. Families have been telling us for a long time that diagnosis isn’t just a clinical moment, but one that can shape everything that follows. While advances in genetics are improving how diagnoses are made, the experience itself can still be long, uncertain and, at times, isolating.
While specialist centres were linked to a more positive experience, the wider picture showed just how variable the diagnostic journey can be, and for many in the room, these findings were eye-opening.
Bringing these insights into the programme ensured that the discussion reflected not just the science of a diagnosis, but the emotional experience behind it – and that matters.
Annual Paediatric Mitochondrial Meeting
A few days later, in Cambridge, Liz and Katie joined clinicians and researchers at the Annual Paediatric Mitochondrial Meeting, a day focused on shared learning, reflection and complex case discussion.
They shared an update on The Lily Foundation’s work supporting families – from one‑to‑one emotional support to practical resources – and how this complements NHS clinical care.
The message was simple: clinical excellence is vital, but families also need help navigating daily life with mitochondrial disease. Patient insight helps connect those dots, addressing gaps in service provision and providing a more holistic package of care that reflects the realities of everyday life.
LifeArc Translational Science Summit
The final leg took the pair back to London for the LifeArc Translational Science Summit, where leaders from academia, healthcare, industry and the charitable sector came together to focus on turning discovery into treatments for rare diseases.
As an equal partner in the LifeArc Centre for Rare Mitochondrial Diseases, The Lily Foundation play a key role in ensuring the patient experience shapes research from the start.
Liz joined a panel alongside project lead Professor Patrick Chinnery and representatives from the other LifeArc Centres, highlighting why patient priorities and lived experience must be embedded throughout the research pipeline, so that studies reflect real-world needs and outcomes that matter to patients and families.
Why this matters
Taken together, these invitations reflect a growing recognition that patient organisations like Lily bring expertise that science alone cannot. It’s both encouraging – and an honour – for The Lily Foundation to be asked to contribute at this level.
The fact is, we’re not just here to support families – we’re here to amplify their voices and channel their experiences into research and advocacy, helping to challenge current practice and drive change forward.
And that matters, because when patient voices are part of the programme, the conversation changes.
