Rare on Air: Recent Episodes
EURORDIS
A EURORDIS-Rare Diseases Europe podcast on the experiences, challenges and successes of people living with rare diseases. Julien Poulain, Communications Manager at EURORDIS, meets with people who share their unique experiences of living with a rare disease, those who advocate for them, and experts on rare disease policy. Email the EURORDIS Rare on Air team at: 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)
European Commission’s Toolbox for Cross-Border Healthcare
Czech Ministry of Health
In this episode of Rare on Air, host Julien Poulain explores the latest findings from EURORDIS Rare Barometer’s extensive survey on the diagnostic journeys of over 10,000 people across Europe, either living with a rare disease or as a close relative of someone who does.
Julien first speaks to Ayça Şahin, a PhD student in neuroscience living in Turkey with Spinal Muscular Atrophy (SMA), who shares her and her brother’s journey to receiving an SMA diagnosis. Ayça highlights the critical importance of early and accurate diagnoses for rare disease patients in Europe.
Reflecting on Ayça's story, EURORDIS Social Research Director Jessie Dubief discusses the survey results, revealing that the average rare disease patient in Europe waits nearly five years for a diagnosis. Jessie also details disparities in diagnostic journeys based on gender, age, and region.
Read our press release on the survey findings: eurordis.org/survey-reveals-lengthy-diagnostic-delays/
You can also read the peer-reviewed paper on the Rare Barometer study in the European Journal of Human Genetics: nature.com/articles/s41431-024-01604-z
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 chats with Nicole Faccio, the recipient of the 2023 EURORDIS Social Media Award.
Known on social media as Facciolita, Nicole has built a significant following, with over 30,000 followers on Instagram and more than 100,000 on TikTok. She discusses with Julien her evolving experiences and perspectives on living with lymphedema, and how she started leveraging social media, and her compression garments, to cast a positive light on managing the rare condition.
Originally from Puerto Rico and now based in London, Nicole's story is one of resilience, fostering a supportive community, and dedication to educating the public, healthcare professionals, and fellow patients about lymphedema.
Tune in to learn more about Nicole’s compelling journey and her ongoing efforts to raise awareness through her innovative and engaging content!
Contact the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.
Also, do not forget to register for our 12th European Conference on Rare Diseases and Orphan Products (ECRD 2024), taking place online on 15-16 May 2024! Get your tickets now at: rare-diseases.eu.
In this episode of Rare on Air, Julien Poulain welcomes Virginie Duigou, President of Neuro IFF France (https://neuroifffrance.my.canva.site/).
Virginie leads a patient association forged only one year ago from the experiences of families and individuals profoundly affected by Fatal Familial Insomnia (FFI), an ultra-rare disease with a global prevalence of less than one in a million.
Throughout the episode, Virginie shares her moving accounts of how FFI (or, in French, insomnie fatale familiale - IFF) has touched her life and those of her family members, offering listeners a glimpse into the emotional toll and challenges posed by living with such a rare condition.
Despite the obstacles in paving the way for medical advancements in FFI, Virginie's narrative is one of undiminished hope, unwavering determination, and relentless perseverance. She delves into the milestones and efforts her organisation has achieved since its inception a year ago, outlining her vision for the FFI community and imparting invaluable advice for anyone striving to make a difference in the realm of ultra-rare diseases.
Contact the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.
Also, do not forget to register for our 12th European Conference on Rare Diseases and Orphan Products (ECRD 2024), taking place online on 15-16 May 2024! Get your tickets now at: https://www.rare-diseases.eu/
In the 4th episode of ERNs on Air, EURORDIS ERN and Healthcare Patient Engagement Manager, Nora Lazaro, talks to Emma Kinloch, ePAG advocate at EURACAN ERN, and Annalisa Trama, epidemiologist and registry coordinator in EURACAN ERN, about how the patient representatives from EURACAN contributed to the set up and develop of a patient registry for adult rare cancers. They discuss what registries are, why we need them and why patient involvement is crucial to their longevity.
Listen to our final episode of Rare On Air Stories this year, featuring Leif and his journey with GNE Myopathy. From seeking answers online to receiving a diagnosis in Switzerland, Leif shares his experiences with resilience and adaptation in navigating life with a rare condition.
In this episode of Rare on Air, we mark Rare Disease Day 2024!Observed globally on 29 February, this day unites people, organisations, and communities worldwide to raise awareness for the 300 million individuals battling rare diseases.Host Julien Poulain leads a conversation with three pivotal figures in rare disease advocacy about how Rare Disease Day is striving to foster global solidarity and achieve equity in social opportunities, diagnostic access, therapies, and healthcare for people living with a rare disease.Simona Bellagambi of UNIAMO, the Italian rare disease alliance, shares the impressive ways in which Italy's rare disease community have been celebrating the campaign over the years.EURORDIS's own Chief Executive Officer, Yann Le Cam, recounts the inaugural journey of Rare Disease Day since 2008, revealing the impact the campaign has had within Europe over the years.Finally, Eda Selebatso, the Founder and Chair of BORDIS, the national rare disease alliance of Botswana, talks about the value of a robust international rare disease community and reaching equitable solutions for those affected, from Botswana to the rest of Africa and the world at large.
Contact the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.
In our 8th episode, we hear about Natalia, from Bulgaria, sharing her 14-year journey with Pulmonary Hypertension. She's faced challenges with grace. From diagnosis to founding the Bulgarian Society of Patients with Pulmonary Hypertension, Natalia's story reflects courage and community.
Episode 7 of Rare on Air Stories is here!
Meet Jay, an individual living with Congenital Central Hypoventilation Syndrome (CCHS), a rare invisible disability diagnosed since birth.
In this episode, Jay pursues his passions despite the challenges posed by CCHS. Hear how he advocates for disability rights, spreads awareness, and embraces life's joys.
Meet Katie in our 6th episode of Rare on Air stories, diagnosed with CMTC at just 5 months old, she gracefully navigates life's challenges, embracing her rarity with pride. From temperature-induced swelling to laser surgeries, Katie shares her journey with courage.
School, sports, and passions—nothing held her back. Now 30, she advocates for herself and others.
oin us on our 5th Rare On Air Stories for an incredible journey with Dan, a US Navy veteran and a 10-year hereditary colon cancer warrior.
Facing a rare gene mutation impacting less than 0.03% of the global population, Dan shares his resilient spirit and positive mindset throughout his battle. From a life-saving total-proctocolectomy surgery to meeting Dr. Henry T. Lynch, the pioneer of hereditary colon cancer research, Dan's story is one of faith, adaptation, and purpose.
In this episode of Rare on Air, host Julien Poulain revisits the crucial subject of mental health and wellbeing in the rare disease community. He engages with the Presidents of two EURORDIS member organisations, who share their hands-on initiatives in providing psychological support.
José Ángel Aibar, President of the Spanish Dravet Foundation (Fundación Síndrome de Dravet), reflects on his family's struggle with Dravet Syndrome, a severe form of epilepsy. He details how this personal experience inspired the Foundation's targeted psychological support for those affected by the condition.
Claas Röhl, President of NF Kinder in Austria, then shares his daughter's journey with Neurofibromatosis Type 1, explaining how it shaped their organisation's psychosocial support programmes.
Despite the distinct challenges faced by families in Spain and Austria, the conversation with José and Claas reveals common mental health struggles in rare disease communities and highlights the vital role these groups play.
The episode also is released ahead of the European Conference on Rare Diseases and Orphan Products (ECRD) 2024, which will feature a session focused on improving mental health in the rare disease community. The conference, held online and in Brussels on 15-16 May 2024, invites registrations at https://www.rare-diseases.eu/.
In our fourth episode we explore Deeann's unique journey, living with Nail Patella Syndrome, Idiopathic Intracranial Hypertension, Nervus Intermedius Neuralgia, Glossopharyngeal Neuralgia, and Trigeminal Neuralgia, alongside other rare conditions. As Deeann approaches the completion of her 5th university degree, she advocates for inclusion and diversity within the disability sector.
🌍 Traveling through 29 countries, facing extended hospital stays, and managing persistent pain, Deeann's story reflects resilience in the context of these rare diseases.
In our third episode, we explore the inspiring journey of Bor, living with chromsome 8p deletion. Affectionately known as Borči, he's the heart of his family, radiating love and joy. We will also delve into his world – from his love for farm visits and cherished moments with his older brother to his passion for cartoons and fairy tales.
In our second episode, we learn about Becky from the UK, a proud parent navigating life with Koolen-de Vries syndrome alongside her two youngest children, Isabella and Joshua. We also share her journey, from receiving a joint diagnosis to embracing authenticity and becoming an advocate.
In our first episode, we read about Amber’s highs of her adventures in Bali, the ways of dealing with stares and comments, and the wisdom she's gained from her unique journey. She'll also give us a glimpse into her daily routine!
In this episode of Rare on Air, host Julien Poulain delves back into the world of gene therapies, chatting with Khadidja Hadri, a French mother whose nine-year-old son grapples with the rare genetic disorder ADA-SCID, and Stefano Benvenuti, Public Affairs Manager at the Fondazione Telethon in Italy.
Khadidja candidly shares how a groundbreaking gene therapy transformed her son’s health, significantly altering the trajectory of their lives.
Stefano provides insights into the workings of gene therapies, detailing the one administered to Khadidja's son, and also discusses his perspectives on proposed EU reforms to boost incentives for rare disease medicine development.
Connect with the podcast at RareOnAir@eurordis.org, and join the dialogue on social media using #EurordisRareOnAir!
Also, don't forget to secure your spot at the 12th edition of the European Conference on Rare Diseases and Orphan Products (ECRD 2024), taking place online and in Brussels on 15-16 May 2024. Register for the event at: https://www.rare-diseases.eu/.
On 15-16 May 2024, EURORDIS-Rare Diseases Europe will be hosting the 12th edition of the European Conference on Rare Diseases and Orphan Products (ECRD), online and in Brussels. As preparations for the largest, patient-led rare disease policy-shaping conference ramp up, host Julien Poulain speaks to three guests about what they are most looking forward to about the event.
Sharon Ashton, Events and Open Academy Director at EURORDIS, explains how ECRD has evolved over the years. Valentina Bottarelli, Public Affairs Director and Head of European Advocacy of EURORDIS, speaks about why ECRD 2024 promises to shape European policymaking on rare diseases, with it taking place just weeks before elections to the European Parliament. Gabriella Almberg, the Global Head of Rare Disease Policy & Public Affairs at UCB, and a representative of industry on the ECRD 2024 Programme Committee, discusses why the conference presents such a valuable opportunity for the developers of rare disease medicines to meet and learn from our community.
Make sure to register for the conference and stay up to date by visiting the ECRD 2024 website: https://www.rare-diseases.eu/
You can also get in touch with the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir!
Hosts Rhiannon Walls and Inés Hernando talk to Simone Louisse (ePAG advocate at ERN GuardHeart) and Barbara Brunmair (Project Manager at PaedCAN ERN) about how patient representatives involved in the European Reference Networks (ERNs) are sharing relevant information and resources generated by their networks with the local communities. They explore best practices for fast-tracking patients to access much needed virtual specialist advice offered by the ERNs and explore how their personal experiences as members of the rare disease community influence their work in the networks.
Given that 72% of rare diseases are genetic in origin, gene therapies, along with their research and development, hold great promise for enhancing the lives of many more people living with a rare condition. These therapies involve altering a person's genes to treat or prevent diseases.
In the latest episode of Rare on Air, host Julien Poulain converses with Radoslav Hajgajda, Chair and co-founder of the Association of Gene Therapy (Asociace Genové Terapie). Based in Prague with his family and his six-year-old son, Oliver, who has Angelman syndrome, Radoslav (also referred to as Rado in this episode) is deeply involved in the cause of gene therapies' development.
Rado’s organisation recently unveiled their Gene Age exhibition, aimed at educating the public about the fundamentals of genetics and DNA, focusing on rare genetic diseases, diagnostics, and potential treatments.
Julien also talks to Radislav Sedláček, a scientist and Director of the Czech Centre for Phenogenomics. Radislav delves into the scientific progress in gene therapies and the work his lab does in examining gene functions through model organisms.
Get in touch with the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.
Host Julien Poulain returns to the topic of newborn screening for rare diseases, upon the completion of a recent EURORDIS Rare Barometer survey on the topic. The survey received more than 6,000 responses (including more than 5,500 responses in Europe) from across the global rare disease community about health systems practice of screening at birth for health conditions.
Before exploring the results of the survey, Julien talks to Iuliana Dumitriu, the mother of Victor, an eight-year-old boy living with Coffin-Lowry Syndrome in Romania. Iuliana, who is also the President of the Coffin-Lowry Syndrome Association shares with Julien the story of her family’s torturous, yet determined, seven-year journey toward receiving a diagnosis for Victor.
Reflecting on Iuliana’s story, Julien also speaks to EURORDIS Social Policy Director, Jessie Dubief, who shares insights into the results of the recent EURORDIS Rare Barometer survey on newborn screening and the views of people living with rare diseases on being screened for conditions at birth.
Contact the podcast by emailing RareOnAir@eurordis.org, and join the conversation on social media using the hashtag #EurordisRareOnAir.
In this episode, Rita Francisco, Survey Junior Manager at EURORDIS, and Mariette Driessens, Policy officer at VSOP -
the Dutch Alliance for Rare disease, are joined by Charlotte van Beuzekom, Endo-ERN Manager, and
by Michelle Battye, ERN eUROGEN Manager as they undertake the challenge of doing a ‘compare and
contrast' exercise, to help us understand how similar, or different, European Reference Networks
(ERNs) can be from one another.
We get personal insight into what being ERN Manager entails, we learn more about current ERN projects and their recent challenges and achievements, and we even take a sneak peek into what Charlotte and Michelle expect
the future will bring! Listen now to discover how and why no two ERNs are alike!
Additional resources:
If you are interested in learning more about the ERNs and VSOP better, visit:
Endo-ERN website: https://endo-ern.eu/
ERN Eurogen website: https://eurogen-ern.eu/
European Advocacy Groups (ePAGs): https://www.eurordis.org/our-priorities/european-reference-
networks/epag/
Testimony from a Dutch national ERN expert; https://zeldzameaandoening.nl/europa/erns/ern-
overzicht
VSOP: https://vsop.nl/english/
Email the podcast at RareOnAir@eurordis.org.
Host Julien Poulain delves into the topic of Health Technology Assessments (HTAs) – the processes through which healthcare systems evaluate the available therapies and technologies for treating a condition. HTAs are central to healthcare systems determination of whether a particular treatment is worth paying for and should be reimbursed when accessed by patients.
Julien is joined by Johan De Graaf, President of the Dutch Pituitary Foundation (Nederlandse Hypofyse Stichting), who shares both his own and his community’s experiences with securing reimbursements for improved treatments. Johan also talks about patient-led efforts to expand access to these treatments.
François Houÿez, Information & Access to Therapies Director at EURORDIS, also joins to talk about the state of HTAs across Europe and why patients’ engagement with them is so important.
Learn more about the work that EURORDIS and partner organisations are undertaking to empower patient involvement in Health Technology Assessments through the European Capacity Building for Patients (EUCAPA) project: https://www.eurordis.org/eurordis-launches-eucapa/.
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 explores the potential of drug repurposing to ensure greater accessibility of medicines for rare disease patients. He is joined by Leonardo Panzeri, President of the Italian Osteogenesis Imperfecta Association (Associazione Italiana Osteogenesi Imperfetta), who highlights the pvalue of identifying new uses for existing medications, including to the community of people living with Osteogenesis Imperfecta. Julien also engages in discussions with EURORDIS colleagues, Claudia Fuchs and Judit Baijet, who shed light on the REMEDi4ALL project. This ambitious EU-funded initiative is aiming to advance the repurposing of approved, discontinued, shelved, or investigational therapeutics. Also, Leonardo, Claudia, and Judit all emphasise the crucial involvement of rare disease advocates in drug repurposing efforts and provide insights on how more advocates can actively participate.
Learn more about the REMEDi4ALL project and why patient involvement in drug repurposing is so crucial: https://www.eurordis.org/what-can-drug-repurposing-mean-to-patients-with-rare-diseases/
Contact the podcast by emailing RareOnAir@eurordis.org.
Rare on Air host Julien Poulain delves into the crucial role of effective health data-sharing systems for patients with rare diseases by talking to Veronica Popa, Chair of the MCT8-AHDS Foundation and EURORDIS’ Digital Patient Engagement Manager. Veronica candidly reveals her experience grappling with extensive paperwork related to her son's ultra-rare medical condition due to insufficient data sharing within Romanian and European health systems. Jelena Malinina, Data Director at EURORDIS, also joins to examine the EU's plans to modernise health data systems through the proposed 'European Health Data Space', and she explores its potential to enhance healthcare for the rare disease community.
Email the podcast at RareOnAir@eurordis.org.
Rare on Air host Julien Poulain talks to Dominique Sturz, patient advocate and leader of the Usher Initiative Austria, and Simone Boselli, Public Affairs Director at EURORDIS, to discuss the difficulties that many currently experience when accessing rare disease medicines, and what the EU is doing to address these difficulties. Dominique shares with us her family’s experiences with a lack of approved medicines for her daughter’s Usher Syndrome, and Simone explains the European Commission’s recent proposals to expand the development of, and access to, rare disease medicines.
Email the podcast at RareOnAir@eurordis.org.
Rare on Air host Julien Poulain talks to Kym Winter, Founder and Chief Executive Officer of Rare Minds, and Matt Bolz-Johnson, Mental Health Lead and Healthcare Advisor at EURORDIS, to explore the often-overlooked topic of the mental wellbeing challenges commonly presented to those living with a rare disease. Kym talks about how her family’s own experiences compelled her to establish the UK’s first specialist rare disease counselling service, and Matt discusses the opportunity that Europe must take to improve mental wellbeing for people living with a rare disease.
Email the podcast at RareOnAir@eurordis.org.
Over the last 5 years, rare disease patient organisations have designated patient representatives who volunteer to work alongside clinicians in the European Reference Networks (ERNs). The role of these ePAG advocates is to represent the needs of their community by collaborating with the clinicians involved in the ERNs and being a bridge between the Networks and their community. Not an easy task!
Inés Hernando, ERN and Healthcare Director at EURORDIS, talks to Maria Barea and Graham Slater, about their personal story as ePAG advocates, how they became involved in the European Reference Networks, how they are contributing to the work of the Networks and their advice for other people who would like to volunteer.
Read more about patient representation and involvement in the European Reference Networks:https://www.eurordis.org/our-priorities/european-reference-networks/epag/epag/
One year on from Russia’s full-scale invasion of Ukraine, Julien Poulain, Communications Manager at EURORDIS, speaks to those who have dedicated themselves and their organisations to supporting those Ukrainians living with a rare disease amid the crisis.
Tetiana Kulesha, Chair of the Board of Orphan Diseases of Ukraine, joins the discussion to speak not only of her efforts to support patients impacted by the invasion, but also her efforts to make sure Ukraine keeps striving towards its pre-war goals in rare disease policy. Adrian Goretzki, and Katarzyna Świeczkowska also share how their organisations in neighbouring Poland have been supporting Ukrainians living with a rare disease and their families – both those who have remained in the country and those who have had to flee. Meanwhile, Anastasiia Saliuk, lead for the EURORDIS response to Ukraine, shares her research and findings on the situation for those with a rare condition affected by the invasion.
Email the podcast at RareOnAir@eurordis.org.
The majority of people living with a rare disease in Europe also live with a disability, and have to deal with unfair daily barriers to living freely and reaching their full potential.
Julien Poulain, Communications Manager at EURORDIS, explores some of the barriers faced by people with a visible or invisible disability, and particularly focuses on those barriers relating to accessible workplaces and the moving across borders to visit, or live in, a different European country.
Rare disease advocates Rebecca Tvedt Skarberg, who lives in Norway with a visible disability, and Adéla Odrihocká, who lives in the Czech Republic with an invisible disability, both share their distinct experiences of facing inequitable disability policies across Europe. Raquel Castro, Social Policy and Initiatives Director at EURORDIS, explains how disability policies can be improved across Europe, and details the further progress that must be made.
Do you want to share your experience of living with a disability? Or do you want to share your views on how European policymakers should better empower people living with a disability? Email us at RareOnAir@eurordis.org.
Many people living with a rare disease and their families experience long, exhausting and disappointing journeys toward receiving a diagnosis on their condition. But what if the journey toward a diagnosis didn’t need to be so long?
Julien Poulain, Communications Manager at EURORDIS, talks to Kirsten Johnson, chair of both the Fragile X Society in the UK and Fragile X International, and Gulcin Gumus, Research and Policy Project Manager at EURORDIS, about the promise of newborn screening programmes across Europe.
Do you want to share your story about struggling to find a medical diagnosis? Or do you want to share your views on the expansion of newborn screening? Email us at RareOnAir@eurordis.org.
Read more:
- EURORDIS’ 11 Key principles for newborn screening: https://www.eurordis.org/publications/key-principles-for-newborn-screening/
In our first episode of Rare on Air, Julien Poulain interviews Yann Le Cam, Chief Executive Officer of EURORDIS-Rare Diseases Europe, as we take a trip down memory lane with the European Reference Networks (ERNs).
Later in the episode, we hear a conversation on how the ERNs began, led by Rita Francisco, EURORDIS' Patient Engagement Junior Manager, and Sarah Weiler from the Luxembourg National Alliance for Rare Diseases.
Finding the right expert to access care for a rare disease remains a challenge for many of the 30 million people living with a rare disease in Europe. To address these challenges, the EU created 24 ERNs in 2017. These ERNs have been striving to bring about a Europe in which clinical expertise can travel across borders, so that patients themselves do not have to.