Neuroscience and Mental Health Innovation Institute, Cardiff University & Timothy Syndrome Alliance (TSA)
Dr Jack Underwood & Sophie Muir
A Meeting of Minds
It’s not discussed enough, but alongside the relentless pursuit of hope that comes with a rare disease, there is a search for those who can transform hope into progress. Diagnosed via one research study in 2016 and enrolled in another requiring blood samples, serendipity brought my family together with Neuroscience and Mental Health Innovation Institute, Cardiff University, six years ago in 2019. This was also the year I registered Timothy Syndrome Alliance (TSA) as a charity. We have been working together ever since. Hope is in progress – the small breakthroughs, the right people coming together and the determination to keep going even when the path isn’t clear.
The Power of Collaboration
As a clinician and researcher, my work can be bench to bedside, but it’s irrelevant without a reason to matter. Seeing the person on the other side by working with patients and people with lived experience provides that purpose. Since my first contact with Sophie and the TSA, I have learnt what it is like to live with a rare disease. The daily struggles, hidden challenges, and the boundless devotion that pushes you through. It motivates me, has led to conversations and links all over the world, and throwaway comments or off-guard questions have sparked progress. Impacts have been felt in the research world and clinical practice, but more importantly in small wins and positive steps for a community fighting to be heard.
What This Award Represents
A Highly Commended award in PPIE celebrates our collaboration and progress – the power of teamwork, shared ideas and vision, the moments of frustration and the breakthroughs and achievements that wouldn’t have happened alone. It acknowledges that connections drive progress. The willingness to listen and learn, think outside the box and the collective effort to overcome challenges only happen when people come together with passion and purpose, in our case for CACNA1C.
Real Impact: Stories and Achievements
Our most recent success in October as one of the first international patient organisations to join the Chan Zuckerberg Initiative Rare As One Network (Cycle 3) to build a platform for research (but not fund it directly) is due to our collaborative vision alignment. Our shared understanding of the needs of our CACNA1C community from both advocacy and research combined has resulted in an ambitious, forward-thinking, well-informed strategy that will be transformative in the acceleration of progress for CACNA1C-related disorders.
A real demonstration of the day-to-day progress we’ve made, has come as the TSA support group has grown. Early on in our time working together, we set out to have CACNA1C added to the relevant genomic testing panel directories used by the NHS (PanelApp). We were also invited to update the Information and Resource letters provided by commercial genomic testing companies (GeneDx & Labcorp Genetics (formerly Invitae)) and third-sector organisations. We’re now seeing the impact of those efforts, as individuals with CACNA1C and their families learn more about the disease through a clear, evidence-based message, and with a shorter post-diagnostic odyssey thanks to signposting, are able to join the community for support sooner. The first time someone said they had felt hope when they learnt from a Resource letter that there was a community of individuals just like them proved the effort was worth it.
Looking Ahead: The Future of PPIE & Rare Disease Research
Rare diseases are uniquely placed to benefit and contribute through PPIE. International collaboration for research is vital, and for ultra-rare diseases like CACNA1C-Related Disorders, the community is global. The COVID-19 pandemic has shown that engagement and involvement can be implemented in myriad ways, and has advanced the possibilities for international co-production. Collaborating brings together those with shared interests, and in the rare disease world a small number of voices can contribute towards big change. Co-design and development strengthens rare disease research, baking real-world impact into projects from the beginning, and meaning that progress is felt by those for whom it matters the most.
Call to Action
Collaborative co-production is vital for progress in rare disease research. It links research to real experience, grounding progress in the reality of what is needed, what is hoped for, what can and should be done. It offers a way to accelerate meaningful change, ensuring that research is informed, impactful, and aligned with the needs of those it aims to help. But collaboration only works when we actively engage.
