Finding the Patients We’re Missing
A thoughtful new conversation from Melody Joy Paine and her Rare Rebels™ podcast explores one of the most persistent challenges in rare disease: the reality that too many patients remain invisible inside the system.
In this episode, Leon van Wouwe, Volv Global’s Clinical Innovation Director, unpacks why the “diagnostic gap” is often a systems issue – missed patterns, fragmented journeys, and clinical bandwidth – rather than a lack of intent or an absence of innovation. The discussion is a grounded reminder that data-driven methods only matter when they support clinical judgement and can be translated responsibly into real workflows clinicians can trust.
If you care about moving from awareness to action in rare disease, this is worth a listen, especially for teams working on:- earlier recognition (before irreversible progression)
- finding patients already interacting with care, but still undiagnosed
- responsible adoption that respects real-world constraints and human decision-making
Please click to listen to the episode recording hosted on the Rare Rebels™ platform.
Podcast description:
Léon Van Wouwe works at the intersection of data science, healthcare systems, and rare disease. In this episode, we explore how machine learning can be used not as a shiny new technology, but as a practical tool to help clinicians recognize patients who are already in the system but remain undiagnosed. Our conversation focuses on how patterns hidden in healthcare data can surface patients years earlier than traditional diagnostic pathways, why underdiagnosis is far more common than most people realize, and what it takes to move these insights from theory into real clinical workflows. We also talk about the human side of adoption, including clinician trust, system constraints, and why technology only works when it serves people. This episode adds a critical infrastructure layer to the Rare Rebels™ map, showing how precision, specificity, and collaboration across stakeholders can shorten diagnostic timelines and open new possibilities for treatment and care.
