In this episode of Rare on Air, host Julien Poulain speaks with Nick Sireau, CEO of the AKU Society and father to two sons living with alkaptonuria. Nick shares how his son’s unexpected diagnosis led him to become a leading advocate for rare diseases and a pioneer in drug repurposing.
Nick recounts how a molecule once destined to be a weedkiller became a treatment for AKU, and reflects on the broader promise and challenges of repurposing approved therapies for different rare conditions.
Join the conversation using #EurordisRareOnAir or contact the podcast at RareOnAir@eurordis.org.
In this Rare on Air Stories bonus episode marking Rare Disease Day, we share Noah’s journey from the United States.
Diagnosed with Meesmann Corneal Dystrophy, a rare genetic eye condition, Noah endures chronic pain and vision challenges. Misdiagnosed and misunderstood for years, he faced immense physical pain and emotional battles, struggling to find medical professionals who understood his condition.
Noah’s determination led him to an accurate diagnosis of Ocular Neuropathic Pain Syndrome. Now, he is an advocate for better awareness of invisible disabilities, and he hopes to bring about positive change for those with chronic eye pain.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
In this Rare on Air Stories bonus episode marking Rare Disease Day, we share the story of Eden from the UK.
Diagnosed as a baby with CMTC (Cutis Marmorata Telangiectatica Congenita), Eden faced challenges with social stigma and self-acceptance due to her marbled skin markings. With her parents’ support and a shift in perspective, she embraced her uniqueness and found strength beyond her appearance. Today, she channels her creativity into filmmaking, using storytelling to inspire others and raise awareness for rare diseases. Eden’s journey is a testament to self-worth, resilience, and the power of embracing what makes us unique.
Visit rarediseaseday.org to share your story or get involved with the campaign. Rare Disease Day is on 28 February 2025.
In this episode of our Rare on Air Stories bonus series marking Rare Disease Day, we meet Do Phuoc Huy from Vietnam, who has lived with an undiagnosed rare condition for 17 years. Initially misdiagnosed and misunderstood, his condition causes sudden collapses and long recoveries, creating immense physical and emotional challenges.
Despite his condition, Huy’s determination led him to become a medical doctor and found theVietnamese Organisation for Rare Diseases. With the unwavering support of his mother and wife, he turned personal struggles into advocacy, offering hope and support to others living with rare diseases.
Visitrarediseaseday.org to share your story or get involved with the campaign. Rare Disease Day is on 28 February 2025.
In this episode of our Rare on Air Stories bonus series marking Rare Disease Day, we share Sushmita’s powerful journey with Amelogenesis Imperfecta (AI), a rare genetic condition affecting the development of tooth enamel. Growing up, Sushmita faced social stigma, judgment, and painful dental treatments, but her father’s encouraging words helped her turn adversity into purpose.
Today, Sushmita is an advocate for AI awareness, sharing her story through blogs and presentations at medical seminars. Her journey reminds us that kindness and understanding can make a lasting impact on the lives of those with rare conditions.
Visitrarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
In this Rare on Air Stories bonus episode marking Rare Disease Day, we share the story of Sophia, who lives with a rare RARB gene mutation. Due to the unavailability of genetic testing, her diagnosis was delayed until age seven, following years of uncertainty about her cerebral palsy and vision impairments.
With the support of specialists, her family identified treatments that have helped improve her cognition and speech. Now in high school, Sophia’s journey has inspired A Cure for Sophia and Friends, a family-led initiative connecting others with RARB mutations and supporting research into this ultra-rare condition.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
In this episode of our bonus series marking Rare Disease Day, we share the inspiring story of Khim Bahadur. When Khim's son, Animesh, was diagnosed with Osteogenesis Imperfecta (OI), he encountered a daunting lack of resources and awareness in Nepal. Undeterred, Khim sought global support, securing life-changing treatment abroad for Animesh and becoming a trailblazer for OI advocacy in Nepal. Through education, media campaigns, and community building, Khim continues to drive rare disease awareness and inspire others across the nation.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
In this episode of our bonus series marking Rare Disease Day, we share Fatimah’s story, a journey marked by misdiagnosis, various treatments, and the mystery of Muscular Dystrophy.
Despite her daily challenges, Fatimah remains positive and deeply grateful for her support system. Her strength shines through as she hopes for a brighter future for everyone living with Muscular Dystrophy.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
In this episode of Rare on Air, host Julien Poulain speaks with Julián Isla, a rare disease advocate, artificial intelligence expert, and father to a son with Dravet syndrome.
Julián shares his journey from navigating the challenges of his son Sergio’s diagnosis to co-founding Foundation 29 - a non-profit harnessing the power of artificial intelligence to revolutionise rare disease care.
He explains how AI tools like Foundation 29’s DxGPT are transforming diagnostics by delivering faster and more accurate results, offering a lifeline to clinicians and patients alike. Drawing on real-world examples, Julián reflects on some of the cultural resistance and regulatory challenges facing AI adoption, while presenting a compelling vision of a future where machine learning plays an ever greater and pivotal role in healthcare.
This thought-provoking episode explores the intersection of advocacy, innovation, and technology, highlighting how advancements in AI are reshaping the rare disease landscape and providing renewed hope to families impacted by rare conditions worldwide.
Join the conversation using #EurordisRareOnAir or contact the podcast at RareOnAir@eurordis.org.
Rare diseases don’t just impact individuals; they also shape the lives of families and loved ones. In this episode of our bonus podcast series marking Rare Disease Day, we share Emma’s story about raising Nellie, her daughter who remains undiagnosed. From emotional challenges to everyday realities, it’s a moving story of resilience, love, and acceptance.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
This episode of our bonus podcast series marking Rare Disease Day features the story of David, who is living with Stiff Person Syndrome. It explores David’s experience of having no definitive diagnosis – the feelings of uncertainty, frustration and depression this comes with as well as the physical effects of a rare disease.
However, David’s story inspires a message of perseverance and hope that he likens to climbing a mountain. Listen in to hear about how this disability changed David’s life and attitude.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
In the final ERNs on Air episode of 2024, Ines Hernando (ERN and Healthcare Director) is joined by Dorica Dan (President of the Romanian Rare Disease National Alliance and patient lead in ERN ITHACA) and Cesar Hernandez Garcia (Director General at the Spanish Ministry of Health) to discuss the JARDIN project, which aims to integrate European Reference Networks (ERNs) into national healthcare systems across Europe. Listen now for an exploration of the value of ERNs in enhancing national-level care, as well as the challenges and opportunities of this Joint Action.
To mark the start of November's 100-day countdown to Rare Disease Day 2025, the global awareness day taking place on 28 February 2025, host Julien Poulain ventures beyond Europe to speak with Kelly du Plessis, Chief Executive Officer and Founder of Rare Diseases South Africa, and mother to a teenage son living with Pompe disease.
Kelly shares with Julien her extraordinary journey, from her son’s diagnosis at just 11 months old to securing a life-saving treatment only 10 days later. She reflects on the formidable barriers she faced in accessing this treatment, the relentless determination required to overcome them, and how these challenges inspired her to establish Rare Diseases South Africa over a decade ago.
Kelly then delves into the unique challenges of advancing rare disease care in South Africa, including systemic inequities and the uncertainties surrounding the country's new national health insurance system. She also highlights opportunities for progress, such as tackling cultural stigmas, fostering stronger community connections, and improving health literacy.
Ultimately, Kelly offers advice and inspiration to parents and advocates starting their own rare disease journeys, underscoring the importance of resilience, action, and hope.
Contact the podcast by emailing RareOnAir@eurordis.org and join the conversation on social media using the hashtag #EurordisRareOnAir.
This episode of our bonus series marking Rare Disease Day features Dani who lives with progressive fibrodysplasia ossificans (PFO). You will hear about her journey from the moment she was born to when she was 16 years old and found a lump on her back. Dani explores the problem of misdiagnosis and her journey with FOP.
Join Dani as she tells a story of frustration, overwhelming change and finally acceptance. Her story is a symbol of resilience as she shows that no obstacle is impossible to overcome with support and love from each other.
Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.
In this episode of EURORDIS Rare on Air, host Julien Poulain speaks with Dr. Miriam Wilms, a visceral surgeon, proctologist, and mother whose son was born with a rare anorectal malformation. Miriam shares the early challenges her family faced within Germany’s decentralised healthcare system, from securing specialised surgeries for her son to coordinating his long-term care needs.
As an advocate with SoMA, a German organisation supporting families impacted by anorectal malformations, Hirschsprung's disease, and cloacal exstrophy, Miriam discusses how her dual roles as a parent and medical professional have uniquely shaped her perspective on rare disease care. She explains why centralising highly specialised treatments is important for improving patient outcomes and reducing healthcare costs and outlines her vision for the systemic changes needed to support rare disease families across Europe.
Join the conversation using #EurordisRareOnAir or reach out via RareOnAir@eurordis.org.
In this episode of EURORDIS Rare on Air, host Julien Poulain speaks with Zainab Alani, a medical student at the University of Glasgow and an advocate for rare disease patients. Zainab shares her personal journey with myasthenia gravis, a rare autoimmune disorder that began affecting her at the age of 15. Despite her mother, a general practitioner, recognising the early signs, Zainab faced scepticism from healthcare professionals, leading to a delayed diagnosis.
For three years, Zainab chose to keep her diagnosis private, revealing it only to her immediate family. She shares the reasons that had underpinned this decision.
The episode highlights the cultural and educational gaps in rare disease healthcare, the emotional impact of how a diagnosis is delivered, and the critical role of family support. Zainab also discusses her advocacy work, including her Instagram @themyasthenicmedic, where she raises awareness of invisible disabilities and calls for improved rare disease education in medical schools.
Join the conversation using #EurordisRareOnAir or contact the podcast via RareOnAir@eurordis.org.
In this episode of our quarterly bonus series, Host Julien Poulain hands over to his colleague Nora Lazaro (EURORDIS ERN and Healthcare Patient Engagement Manager) for a discussion with Lori Renna Linton (Patient Representative in ERN RND ePAG) and Sophie Ripp (Project manager in ERN RND) on the value of patient journeys. Patient journeys are healthcare service improvement tools that capture the usual course of development of a condition, and the needs of patients living with that condition, through their day-to-day experiences. The ERN RND representatives share their experiences in creating patient journeys, disseminating them in new and innovative ways, and give practical advice on how to build resources that have the largest possible impact!
Resources mentioned:
EURORDIS Guide to developing a Patient Journey: https://www.eurordis.org/publications/guide-to-developing-patient-journey/
How the Patient Journey can improve care pathways? https://www.eurordis.org/care-pathways/
ERN RND patient journeys: https://www.ern-rnd.eu/disease-knowledge-hub/ern-rnd-patient-journeys/
ERN RND Scientific Theatre Dystonia: https://www.ern-rnd.eu/disease-knowledge-hub/dystonia/
In this episode of Rare on Air, host Julien Poulain speaks with Jane Velkovski, a passionate young advocate for people with spinal muscular atrophy (SMA) and other disabilities.
Jane shares his journey from a young child facing accessibility challenges to becoming a powerful voice for change on an international stage. He discusses his early memories, the role of football in his life, and his vision for a more inclusive society.
Jane also highlights the importance of newborn screening for rare diseases like SMA, and shares personal stories of advocacy successes, emphasising the need for acceptance and equality.
Contact the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.
In this episode of Rare on Air, host Julien Poulain interviews Marina Zapparoli-Manzoni, President of Euro-HSP and Treasurer of AIVI.PS, organisations dedicated to supporting those affected by Hereditary Spastic Paraplegia (HSP).
Marina shares her family's journey with HSP, discussing the emotional challenges they faced in securing a diagnosis for her son, Edoardo. She highlights the importance of forming a supportive community for individuals undergoing similar struggles. Marina also delves into her advocacy work, the evolution of HSP research, and the potential for drug repurposing.
Inspired by her participation at the EURORDIS Open Academy in Barcelona earlier this month, Marina emphasises the critical role of patient advocacy in advancing treatments for rare diseases. She expresses her hopes for guiding and informing HSP research to ensure that scientific efforts are truly aimed at enhancing the quality of life for HSP patients.
Contact the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.
In this quarterly bonus episode of Rare on Air, Julien Poulain hands over to Ines Hernando, EURORDIS ERN and Healthcare Director. Ines speaks with Anna Arellanesová (Chair of Rare Diseases Czech Republic) and Ladislav Švec (Director of the Czech National Contact Point for Cross-Border Healthcare).
Together, they discuss the intricacies of cross-border healthcare in the EU, focusing on simplifying access for patients with rare diseases. They also share their own professional insights and practical advice on navigating this complex healthcare landscape and the potential of ERNs to ease the process for patients and their families.
Further information, as mentioned in the episode:
Information for patients with rare diseases traveling abroad for medical care (in Czech only)
