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.

Episode 6: Wes Michael | Building the Infrastructure for Patient Voice

Wes Michael brings a systems-level perspective to the rare disease ecosystem through his work as the founder of Rare Patient Voice. With a background in market research, Wes recognized early on that healthcare organizations lacked ethical and effective ways to listen to patients, especially those navigating rare and complex conditions.

In this episode, Wes shares how Rare Patient Voice was created to connect researchers, companies, and institutions with patients and caregivers in ways that respect their time, compensate their expertise, and avoid exploitation. We discuss why patient voice must be built into research and development early, how compensation changes power dynamics, and what happens when listening becomes a foundational part of decision-making rather than an afterthought.

This conversation adds an important infrastructure layer to the Rare Rebels™ map, showing how patient voice moves through systems, how it becomes usable, and why ethical listening is essential to progress across rare disease research, trials, and care.

Guest: Wes Michael — Founder of Rare Patient Voice, creating ethical, scalable infrastructure that enables patients and caregivers to share their experiences and shape research, development, and healthcare decisions.

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, advocacy, infrastructure, and lived experience shape what becomes possible.