In this special episode of PYRB for the Podcastathon charity event, we share the story of Frances, the daughter of Portugal. The Man’s John Gourley and Zoe Manville, who is living with an ultra-rare and recently discovered genetic disease called DHDDS. The condition causes serious neurological symptoms and there’s currently no approved treatment.I’m joined by Mel – a PTM fan, rare disease advocate, and science communicator – who breaks down the science behind DHDDS, explains potential treatments, and shares insights into Frances’s journey and what lies ahead.Frances is one of only six known individuals in the world with her specific DHDDS variant. Her story is not only one of challenge, but of resilience, innovation, and the power of community-driven science.We explore why awareness, advocacy, and family-led foundations are essential in the rare disease world – and how you can help support Frances and others like her.Every listen, share, and donation helps bring visibility, hope, and meaningful action to the rare disease community. GoFundMe: Support Frances’s journey and the fundraising efforts for her personalized treatment:https://www.gofundme.com/f/help-frances-get-the-treatment-she-needs Frances Changed My Life FoundationSupport Frances’s journey and the fundraising efforts for her personalized treatment:https://www.franceschangedmylife.com/ Zoe’s Global Genes TalkFrances’s mom, Zoe Manville, shares her family’s story and how advocacy is fueling research:https://globalgenes.org/blog/rare-advocacy-exchange-2025-session-1-kick-off-with-zoe-manville/Cure DHDDSGlobal nonprofit connecting families, funding research, and advancing therapies for DHDDS and related disorders:https://www.curedhdds.org/n-Lorem FoundationCreating free, lifelong ASO therapies for patients with nano-rare mutations like Frances:https://www.nlorem.org/Mels Youtube Link: https://www.youtube.com/melgemini Mels Discord: melzzsk (Melz#2725)Mels Reddit: funducklove Artwork Creator Links: https://www.instagram.com/br_zzyy/ My Twitter (X) & Discord: @PortugalTheMarkFollow the band: https://www.portugaltheman.com/ https://twitter.com/portugaltheman https://www.instagram.com/portugaltheman/ https://discord.com/invite/portugalthemanMusic used: https://transistor.fm/free-podcast-intro-music/ Southside