"No hay cura": el diagnóstico que destrozó a esta madre

A powerful and deeply human conversation about what it means to live with a rare disease. Rosa tells us about 12 years without a diagnosis, Nicolás's seizures, the emotional impact of discovering there is no cure, the constant struggle of families, and how patient associations become a second family. We discuss: The delay in diagnosing rare diseases The psychological impact on families The importance of research and clinical trials Special education and inclusion The economic and emotional realities of therapies The importance of patient associations How to find happiness even in very difficult situations A story of struggle, acceptance, and humanity that everyone should hear. Follow the Spanish Association for Creatine Deficiency: AEDC Website - https://asociaciondeficitcreatina.es/ AEDC Instagram -   / deficiencia_de_creatina   00:00 - “There is no treatment and no cure” 01:15 - How it all started with Nicolás 02:46 - The first seizure that changed everything 03:19 - 12 years without a diagnosis 05:10 - Hypotheses and medical errors for years 06:22 - The genetic analysis that changed everything 08:08 - “It was devastating” 09:30 - What disease does Nicolás have? 11:27 - How the disease affects the brain and body 14:05 - “In Spain, we didn't know anyone” 15:13 - Finding other families and creating the association 16:30 - The importance of associations and social media 19:19 - What disease associations actually do Rare 9:16 PM - The transition from mainstream school to special education 12:15 AM - "I just want my child to be happy" 12:41 AM - Does the Spanish system really help? 30:19 - Research, clinical trials, and hope 35:57 - Why this disease isn't being researched in Spain 38:00 - Current clinical trials in France 42:40 - “Time passes and works against you” 43:25 - The problem of researching rare diseases 44:31 - The importance of early diagnosis 49:35 - The emotional and economic cost of therapies 51:16 - What daily life is like with Nicolás today 52:20 - “You focus on being a mother” 53:00 - Learning to accept and enjoy the present 54:02 - “If Nicolás had been neurotypical…” 55:41 - The fear of the future and letting him fly 57:14 - The advice I would give to other families 59:23 - Final reflection on happiness and struggle Subscribe for more conversations with people who have truly accomplished great things. Organizers: ◼️Join the BioLynx community - https://www.biolynx.es/comunidad-biol... ◼️Learn about FarmaSkills training programs - https://farmaskills.com/ ◼️Konexio Biotech – for a limited time: konexiobiotech.com/ Sponsors: Estrella Galicia - https://estrellagalicia.es/ Auara - https://auara.org/ #RareDiseases #Health #Medicine #Research #Biotechnology #Podcast #Disability #Families #Science