{"podcast":{"title":"On Rare","slug":"on-rare-5037493","podcast_index_feed_id":5037493,"rss_url":"https://feed.podbean.com/onrarebridgebio/feed.xml","website_url":"https://onrarebridgebio.podbean.com","image_url":"https://pbcdn1.podbean.com/imglogo/image-logo/13721480/ON_RARE_-_Cover_small_8a6rl.png","author":"BridgeBio Pharma","episode_count":48,"summary":"Join us each month to listen and learn from the experts – people living with rare conditions. We’ll discuss the challenges and triumphs of life with a rare genetic condition and hear from scientists working to develop new medicines. Honest conversations with the rare community, led by the patient advocacy team at BridgeBio. Subscribe below to catch each episode as it goes live.","last_synced_at":"2026-06-04T06:18:31.087005+00:00","page_url":"https://stenobird.com/podcast/on-rare-5037493"},"episode":{"title":"“I’m still very grateful for the life that I’ll have.” Cerys is living with Limb-Girdle Muscular Dystrophy type 2i/R9","slug":"i-m-still-very-grateful-for-the-life-that-i-ll-have-cerys-is-living-with-limb-girdle-muscular-dystrophy-type-2i-r9","published_at":"2025-09-04T14:56:43+00:00","page_url":"https://stenobird.com/podcast/on-rare-5037493/i-m-still-very-grateful-for-the-life-that-i-ll-have-cerys-is-living-with-limb-girdle-muscular-dystrophy-type-2i-r9","show_page_url":"https://stenobird.com/podcast/on-rare-5037493","url":"https://onrarebridgebio.podbean.com/e/i-m-still-very-grateful-for-the-life-that-i-ll-have-cerys-is-living-with-limb-girdle-muscular-dystrophy-type-2ir9/","audio_url":"https://mcdn.podbean.com/mf/web/qve5ameny7rhw3gf/On_Rare_LGMD2i_Cerys_final_edit_026904d.mp3","summary":"Before she turned eight, Cerys had already faced two diagnoses, only one of which she truly understood. While being diagnosed with celiac disease as a child, unusually high CK levels in her blood pointed to a deeper issue: limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9). In this episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Cerys, a 23-year-old living in Wales, about living with LGMD2I/R9. She shares how she’s navigated symptom progression, adapted to using mobility aids, and discovered the power of telling her story through her podcast, Unbalanced. When Cerys was first diagnosed with LGMD2I/R9 at age seven 7 years old, she didn’t fully understand the diagnosis. Her parents carried the emotional weight, trying to protect her from fear of what was ahead. It wasn’t until her muscle weakness became impossible to ignore, at 12 years old, that the condition began to define her daily life. From navigating stairs and driving to embracing a wheelchair, Cerys has had to adapt physically, emotionally, and socially, all while managing her energy levels so that she can continue to do the activities she loves. She finds strength in the LGMD community and hope in research, representation, and connection. In 2023, she launched Unbalanced to amplify stories like hers because growing up, she didn’t see anyone with a disability who looked like her. Now, she’s determined to be that voice for others. Dr. Anna Talaga, Director of Medical Affairs at ML Bio Solutions (a BridgeBio affiliate), provides a medical overview of LGMD. LGMDs are a group of genetic diseases that cause progressive muscle weakness and wasting, particularly in the shoulders, hips, and thighs. In…","meta_description":"Before she turned eight, Cerys had already faced two diagnoses, only one of which she truly understood. While being diagnosed with celiac disease as a chi…","key_points":[],"chapters":[],"topics":[],"duration_seconds":2366,"processing_state":"not_requested","actions":[{"name":"request_transcript","method":"POST","url":"https://stenobird.com/v1/public/podcasts/on-rare-5037493/episodes/i-m-still-very-grateful-for-the-life-that-i-ll-have-cerys-is-living-with-limb-girdle-muscular-dystrophy-type-2i-r9/transcription-requests","description":"Idempotently request low-priority transcript generation for this episode."},{"name":"read_markdown","method":"GET","url":"https://stenobird.com/podcast/on-rare-5037493/i-m-still-very-grateful-for-the-life-that-i-ll-have-cerys-is-living-with-limb-girdle-muscular-dystrophy-type-2i-r9.md","description":"Read the agent-friendly Markdown representation of this episode resource."}]}}