Episode 9: Jeevan Mann | Research Through Lived Experience

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.

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.

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: Jennifer Siedman — Parent and nonprofit leader at Courageous Parents Network, equipping families of medically complex children with language, guidance, and support to navigate care, grief, and 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, advocacy, and lived experience shape what becomes possible.

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: Megan Soliman — Internal medicine physician and rare disease parent whose experience navigating early diagnosis, newborn screening, and intervention exposes where medical training and systems still fail rare families, and where they can do better. 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, and lived experience shape what becomes possible.

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: Susannah Fox — Researcher, author, and patient-experience champion whose work has illuminated how communities lead innovation through shared knowledge, connection, and self-organized care. 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, and lived experience shape what becomes possible.

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: Emil Kakkis — Medical geneticist and rare disease drug pioneer who advanced enzyme replacement therapy for MPS I (Aldurazyme) and went on to found Ultragenyx and the EveryLife Foundation to accelerate rare disease treatments. 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, and lived experience shape what becomes possible.

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: Mark Dant — Dad, police officer, and self-taught advocate who refused to accept a death sentence for his son and helped fund and push the development of the first treatment for MPS I through the Ryan Foundation. About Rare Rebels™ Rare Rebels™ is an ongoing effort to map the rare disease ecosystem through the people leading the charge, documenting how change actually happens and how connections across science, advocacy, and lived experience shape what becomes possible.

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.