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.

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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:

About Rare Rebels™

Episode 5: Jennifer Siedman | Making Space for Care, Grief, and Hope

Jennifer Siedman brings a steady, thoughtful presence to conversations that many families struggle to name. As a parent and leader at Courageous Parents Network, her work focuses on helping families navigate serious illness with clarity, compassion, and support, especially when there are no easy answers.

In this episode, Jennifer reflects on how her personal journey informs the topics Courageous Parents Network engages with, including different types of grief, the evolving meaning of hope, and the emotional complexity of decision-making in medical care. We talk about how families live with uncertainty over time, and why support must extend beyond moments of diagnosis or crisis.

This conversation adds an important layer to the Rare Rebels™ map by centering care that is relational, ongoing, and deeply human. It highlights the role of guidance, language, and presence in helping families feel less alone as they navigate medical complexity and the long middle spaces of rare disease.

Guest:

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Episode 4: Megan Soliman | When Medicine Meets Lived Experience

Megan Soliman brings a rare dual perspective to this conversation as both a physician and a parent navigating rare disease. Her experience highlights the tension between how medicine is taught and how it is practiced when families are facing diagnoses that don’t fit neatly into standard systems of care.

In this episode, Megan reflects on the realities of medical training, including how little time is often dedicated to rare disease, and what that means for physicians trying to support families in real-world settings. We discuss the critical role of newborn screening, the importance of early diagnosis, and how families often need to actively advocate for timely access to services like early intervention.

The conversation also explores the emotional and developmental side of rare disease, particularly how language, confidence, and belief shape a child’s sense of self. The episode closes with a powerful and grounding moment as Megan’s daughter joins the conversation to share the phrase she’s been taught to live by: “I am capable.”

This episode adds an important layer to the Rare Rebels™ map, showing how systems of education, early care, and family advocacy intersect, and how change often begins when lived experience informs how medicine is practiced.

Guest:

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Episode 3: Susannah Fox | Mapping the People Who Move Systems

Susannah Fox brings a unique ability to listen deeply and reflect patterns back to the people living them. In this conversation, she shares how that way of listening has shaped her work as a researcher and author, and why it matters so much in spaces where systems are fragmented and people are often left to navigate on their own.

The episode centers on Susannah’s book Rebel Health, which outlines the roles needed in a patient-led revolution and offers a framework for understanding how change actually happens. Together, we explore how those roles show up across rare disease communities, where seekers, solvers, networkers, and champions often emerge out of necessity rather than intention.

We spend significant time discussing Champions in particular, especially those who may not have a direct personal connection to rare disease. Susannah shares insights into how these individuals can play a meaningful role when they listen well, show up consistently, and align themselves with the needs of the community rather than their own assumptions.

This conversation widens the lens of the Rare Rebels™ map, showing how movements grow through connection, curiosity, and people willing to stand alongside others, even when the challenges are not their own.

Guest:

About Rare Rebels™

Episode 2: Emil Kakkis | When Science Becomes Human

Emil Kakkis began his career wanting to focus on the science. He imagined a life in the lab, driven by research questions and discovery. What he didn’t anticipate was how deeply personal rare disease work would become.

In this conversation, Emil shares how his relationship with families affected by MPS I, particularly his partnership with Mark Dant and his son Ryan, reshaped his understanding of responsibility in science. Developing a treatment was no longer just about proving something could work. It was about staying with that work when the system made it difficult, and when walking away would mean leaving real people behind.

The episode also explores Emil’s decision to operate within the pharmaceutical industry, not as an endpoint, but as a vehicle for building strong teams and delivering high-quality therapies. Emil reflects on the challenges of moving science into practice, the role families play in shaping progress, and his broader vision for the future of rare disease, including new models that rethink how care, research, and treatment development could be structured.

This conversation reveals how relationships turn science into action, and how rare disease progress is often driven by people who never planned to lead, but chose not to walk away.

Guest:

About Rare Rebels™

Episode 1: Mark Dant | Connecting the Dots When No Path Exists

Mark Dant’s story sits at the foundation of modern rare disease advocacy. Long before online communities, searchable research, or established pathways for drug development, Mark was a father who was told that nothing could be done for his son Ryan, who was diagnosed with MPS I.

In this conversation, Mark reflects on what it meant to refuse that answer. He shares how he taught himself medicine and science without formal training, built a nonprofit from the ground up, and followed lead after lead in a fragmented system that was never designed to help families like his. In the 1990s, that meant studying medical dictionaries, going to libraries, and showing up at conferences in search of anyone who might be willing to help.

The episode also explores the importance of relationships in rare disease progress. Mark’s partnership with physician-scientist Emil Kakkis became a turning point, showing how trust, persistence, and shared commitment can bridge the gap between families and the systems meant to serve them. Together, they helped make possible the first treatment for MPS I, changing not only Ryan’s life but the future for many families who followed.

This conversation is not just a personal story. It reveals a pattern that still defines rare disease today: parents as drivers, relationships as infrastructure, and progress made by connecting dots where no clear path exists.

Guest:

About Rare Rebels™

If you’ve been subscribed to this feed for a while and you’re wondering how you got here, you didn’t miss anything — the work just evolved.

This feed began as Images of Joy and has grown into Rare Rebels™, expanding from preserving family stories into exploring how awareness, connection, and action intersect in rare disease.

This short bridge episode explains the evolution and what to expect moving forward. Whether you arrived here by accident or on purpose, we welcome you to stay.

The Imperfect JOY® podcast is taking on a new focus. We will explore resilience through many different challenges that families face when they have a child diagnosed with critical illness. We’re not looking to highlight a specific diagnosis but rather the diverse experiences that allow us to step into the perspective of these families. This podcast will share how they are able to be present for joy amidst extremely difficult circumstances, while also recognizing times that the light seemed so distant that they fell into the arms of their tribes.

https://www.musestorytelling.com/