Crystal clear - Living with Cystinosis

In this episode, we dive into the often overwhelming world of social welfare benefits for people living with cystinosis. I sit down with social law expert Jana, who shares her personal journey and practical strategies for finding the right support—from disability cards to care levels, and beyond. We explore how to proactively access essential resources, the importance of self-advocacy, and the role of counseling centers and self-help groups. Whether you’re newly diagnosed or navigating adulthood, you’ll find actionable guidance and inspiration to make life with cystinosis a little clearer and a lot more manageable.

In this episode, I dive deep into why physical activity is so crucial for anyone living with cystinosis. With the help of leading experts in pediatric endocrinology, nephrology, and orthopedic surgery, we unpack the challenges of bone and muscle health, and the impact on growth and everyday life. We also hear firsthand from patients about the difference movement has made for them. Along the way, I share practical advice on exercise, nutrition, and the power of staying proactive at every age. Join me as we uncover how small steps can lead to stronger bodies and brighter futures for those with cystinosis.

I'm Bettina Kirschner, and in this episode, we dive deep into what it means to dream of starting a family when living with cystinosis. Joined by Dr. Mira Choi, we tackle the realities of female fertility, the medical hurdles of pregnancy, and the emotional questions that come with planning for the future. We also break new ground on male fertility, sharing hopeful news and practical guidance for those who never thought biological parenthood was possible. From medical expertise to personal journeys, we unpack the complexities, risks, and triumphs that shape family planning with cystinosis. Join us for an honest, supportive conversation designed to empower, inform, and inspire anyone touched by this rare condition.

In this episode, we shine a spotlight on eye health in cystinosis, breaking down everything you need to know about eyedrop routines, medical exams, and managing daily life with this rare condition. I’m joined by Dr. Rachel Bishop and Dr. Susmito Biswas, two leading ophthalmologists who share practical advice, expert insights, and encouragement for patients and families alike. We discuss when to start eyedrops, how to make the process easier for children, and the importance of regular eye exams to protect vision long-term. You’ll also hear tips for building routines, understanding different eyedrop formulations, and staying motivated through real patient stories. Join us as we empower the cystinosis community to take charge of eye health—one drop at a time.

In this episode, I sit down with Dr. Katharina Hohenfellner, one of the world’s leading specialists in cystinosis, to reveal what it truly means to live with this rare condition. We explore why cysteamine remains the cornerstone of therapy, how it works in the body, and the everyday hurdles patients and families face—from medication side effects to the emotional toll of lifelong treatment. You’ll hear candid insights into practical management, the importance of careful dosing, and the evolving landscape of new therapies and gene studies. I share real-life stories from patients and caregivers, shining a light on support networks and the hope that research brings. Whether you’re affected by cystinosis or eager to learn more, this conversation offers understanding, encouragement, and expert knowledge to help make life with cystinosis just a little bit clearer.

In this episode, I sit down with Dr. Elke Wohl to shed light on how the earliest symptoms of cystinosis can be so easily overlooked—and what happens when families finally get answers. We discuss the challenges of diagnosis, the emotional and practical hurdles families face, and the complex treatment regimens required for children living with this rare condition. Together, we explore what it means for siblings, future family planning, and the daily realities after hearing the news. I share insights into medication routines, nutritional needs, and the role of kidney transplantation, all through the lens of lived experience. Join us as we make sense of the science and the human stories behind cystinosis, offering hope and clarity to families navigating this journey.