Rare on Air

In this episode of ERNs on Air, Julien Poulain hands over to Nora Lázaro, Patient Engagement Manager for ERNs & Healthcare at EURORDIS, for a conversation with Ruth Biller, ePAG Lead in ERN GUARD-Heart, and Lia Crotti, a clinician in the network.

Together, Ruth and Lia explore the Sudden Cardiac Death Letter for families, a patient-led initiative developed within ERN GUARD-Heart. They discuss how patients’ lived experience helped identify an unmet need, how collaboration with clinicians shaped the resource, and what the initiative can teach us about putting patient partnership into practice across the European Reference Networks.

Find out more about the Sudden Cardiac Death Letter for the Family:
https://guardheart.ern-net.eu/experts/forms/sudden-cardiac-death-letter/

ERN GUARD-Heart is looking to make the letter available in more languages. To get involved, contact [email protected].

In this episode of Rare on Air, Rhiannon Walls reads the story of Stephanie, whose daughter lives with LIG4 syndrome, a rare genetic condition that took years to identify.

Stephanie reflects on the confusion and fear of repeated medical emergencies, the long period of misdiagnoses, and the difficult decision to seek specialist care abroad. Through it all, she speaks openly about the realities of being a parent navigating an unpredictable illness, the setbacks, the determination, and the constant search for answers.

Her story offers an honest look at caregiving in the face of diagnostic uncertainty and the strength that comes from refusing to give up on finding the support her daughter needs.

In this episode of Rare on Air, Rhiannon Walls reads the story of Ren, who lives with Congenital Panhypopituitarism, a condition where the pituitary gland fails to produce essential hormones from birth.

Ren reflects on growing up with a body that couldn’t regulate growth, stress, or metabolism, and the lifelong treatments that shaped her childhood and adulthood. She speaks candidly about the medical emergencies she has faced, the emotional weight of infertility, and the unexpected paths that led her to motherhood.

Her story offers insight into living with a condition so rare she has never met another woman with it, and why sharing her experience has become a way to create connection, raise awareness, and support others on similarly isolated journeys.

In this episode of Rare on Air, Julien Poulain reads the story of Loago, from Botswana, who was diagnosed with Gaucher disease as a teenager.

Loago reflects on the challenges that followed his diagnosis, from leaving school due to worsening symptoms, to navigating limited access to treatment, to rebuilding his life after personal loss. Over time, with support from Botswana’s rare disease community, he was finally able to access the medication he needed and return to his studies.

His story offers a clear and honest look at living with a rare metabolic disease in a setting where resources are scarce, and how determination can shape a path forward even in difficult circumstances.

In this episode of Rare on Air, Rhiannon Walls reads the story of Hong-Ahh, whose son Léon lives with LAMA2-related congenital muscular dystrophy, a rare and progressive neuromuscular condition.

Hong-Ahh shares her early search for answers, the uncertainty that followed the diagnosis, and the ongoing efforts to support Léon through physiotherapy and respiratory care. She speaks to the challenges of navigating a condition with limited research and little public awareness, and the determination required to keep looking for possibilities beyond what the medical system currently offers.

This episode offers a parent’s perspective on living with a progressive rare disease, the practical realities, the constant learning, and the quiet persistence behind each step forward.

In this episode of Rare on Air, Rhiannon Walls reads the story of Jessa, an 18-year-old living with multiple rare conditions, including Ehlers-Danlos Syndrome, Mixed Connective Tissue Disease, and juvenile arthritis.

Jessa shares what it has meant to grow up with symptoms that were often dismissed, the long path to getting the right diagnoses, and the realities of managing complex conditions that overlap and collide. Despite the challenges, she has pushed forward — finishing high school early, beginning university studies, and shaping her future with determination and clarity.

Her story offers a thoughtful look at navigating adolescence, identity, and ambition while living with chronic illness, and the importance of speaking up so others know they’re not alone.

In this episode of Rare on Air, Julien Poulain reads the story of Ken, whose life has been deeply shaped by Huntington’s disease, as a full-time carer for his mother with the condition and as someone living with a 50% genetic risk himself.

Ken reflects on the demands of caregiving, the emotional toll of watching a parent lose their abilities, and the uncertainty that comes with inheriting risk. He shares how he learned to navigate fear, find support, and rebuild hope during moments when it felt out of reach.

His story offers a clear, grounded look at family, responsibility, and the resilience that grows quietly over years of caregiving, inviting listeners to understand what it means to live alongside a rare, progressive condition.

In this episode of Rare on Air, host Julien Poulain speaks with Małgorzata 'Gosia' Kosla, a rare disease advocate and mother of twins, Lena and Zuzia. Gosia’s journey into advocacy began in February 2022, when Lena was diagnosed with an ultra-rare neurodevelopmental condition caused by a mutation in the PACS2 gene.

Gosia reflects on the initial shock of diagnosis, the sudden onset of seizures, and her family's realisation at the time that almost no research or structured support existed for families impacted by PACS2. Drawing on her and her husband Piotr’s professional backgrounds, she explains how they decided to found the PACS2 Research Foundation just months later, determined to drive research forward themselves.

Over the past three years, Gosia and her family have helped build a global, patient-led research effort spanning drug screening, RNA-based approaches, and preparations for an international natural-history study, working with research teams in Europe and the United States. She shares the personal sacrifices behind the foundation, the role of the #misjaLEK fundraising campaign, and what gives her hope as new therapeutic approaches begin to emerge.

Gosia also offers a candid perspective on patient-led research in Europe, reflecting on barriers to funding, the value of initiatives such as the EURORDIS Open Academy, and why stronger cooperation across countries and institutions is essential for families living with ultra-rare diseases.

Join the conversation using #EurordisRareOnAir or contact the podcast at [email protected].

In this episode of Rare on Air, Rhiannon Walls reads the story of Christine, who lives with Granulomatosis with polyangiitis (GPA), a rare and serious autoimmune condition.

Diagnosed at just 24 after a sudden and life-threatening health crisis, Christine reflects on the fourteen years that followed, years marked by recovery, resilience, and a growing commitment to advocacy. She speaks openly about navigating an unpredictable disease, rebuilding her life day by day, and finding strength in community, even when that community is small.

Christine’s story is one of honesty, determination, and quiet hope. It reminds us that even when the path is difficult, each day can offer something meaningful and that living with a rare disease is still living.

In this episode of Rare on Air, Rhiannon Walls reads the story of Annarita, from Italy, who lives with Charcot-Marie-Tooth disease type 2Z. Diagnosed in her late teens after years of uncertainty, she reflects on the shift from fear and resignation toward acceptance and the unexpected route that brought her back to the thing she loves most: dance.

Through perseverance and adaptive movement, Annarita found new ways to build strength, regain confidence, and reconnect with a passion she once thought she had lost. Her story offers a thoughtful look at adaptation, determination, and the small steps that shape a return to joy.