Jeevan Mann isn't just researching Ehlers-Danlos syndrome. He lives with it every day. In this conversation, we explore why lived experience belongs in research, why diagnosis matters even when treatments are limited, and how patient perspectives can strengthen the science itself.

When this conversation with Shelley Bowen was recorded, there was no resolution yet. Families were still waiting — still pushing — still living inside the uncertainty of whether a treatment would ever make it across the finish line.

Shelley is a parent of children with Barth syndrome, and in this episode, she speaks from inside that reality. She talks about what happens when no one will care more than a parent — when families become advocates not by choice, but by necessity. When parents learn how to build websites, organize communities, navigate regulatory systems, and show up in rooms they never expected to enter, because their child’s life depends on it.

This conversation captures what that kind of waiting costs. The emotional weight. The exhaustion. And the quiet determination that keeps families moving forward even when progress feels impossibly slow.

Before we begin, though, there’s important context I want to share.

Since this episode was recorded, the story has moved forward. After years of sustained, parent-led advocacy, the first treatment for Barth syndrome has now been approved. That outcome is not part of this conversation — but it is an essential part of Shelley’s story today.

What you’re about to hear is a conversation from the depths of the struggle. The update shows what can happen when families refuse to stop advocating, even when the system moves slowly.

Léon van Wouwe brings a systems-level perspective to rare disease through his work applying machine learning to healthcare data. His focus is on identifying patients who are already interacting with the healthcare system but remain undiagnosed due to the subtle and complex nature of rare diseases.

In this episode, Léon explains how data models can detect patterns that clinicians may not recognize in isolation, revealing that there are often two to three times more patients living with a rare condition than are officially diagnosed. We discuss how these insights can be deployed responsibly within clinical workflows, why specificity is critical to avoid alert fatigue, and how clinician engagement is essential for adoption.

The conversation also explores how earlier diagnosis can dramatically impact outcomes, reduce unnecessary clinical touchpoints, and shift both quality of life and healthcare costs. Léon shares why rare disease serves as a powerful model for precision medicine more broadly, and how solving these hardest problems can inform approaches across healthcare.

This episode highlights the often-invisible infrastructure that enables progress, reminding us that meaningful change happens when technology is designed to support human judgment, collaboration, and care.

Guest: Léon van Wouwe — Data science leader applying machine learning and healthcare data to identify undiagnosed patients earlier and support more precise, actionable clinical decision-making.

About Rare Rebels™ Rare Rebels™ is an ongoing effort to map the rare disease ecosystem through the people leading the charge, documenting how change happens and how connections across science, medicine, data, and lived experience shape what becomes possible.