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.