Glutaric Acidemia 1 with Serena From New Zealand 2nd Anniversary episode

Send us Fan MailIn this special Rare Connection Live episode, host Joannal celebrates 2 years of amplifying rare voices by welcoming Serena, a rare disease advocate and parent from New Zealand.Serena’s daughter lives with GLUT1 Deficiency Syndrome, a rare metabolic disorder that impairs glucose transport to the brain — leading to seizures and neurodevelopmental challenges. One of the most critical treatments? A clinically managed ketogenic diet, tailored specifically for medical use.Together, we discuss: 🧠 What GLUT1 Deficiency is and how it’s diagnosed 🥣 How the medical ketogenic diet supports brain energy metabolism 🌍 Differences in access and support between New Zealand and the U.S. 🏫 Serena’s work supporting new families through Starship Hospital and advocating for rare children in schools 📜 The ongoing fight to pass the Medical Nutrition Equity Act in the U.S.Whether you’re a clinician, parent, caregiver, or advocate — this episode offers critical insights into the lived experience and nutritional treatment of GLUT1 DS.📌 Note: This conversation is for informational purposes only and should not be used as medical advice. Always consult a qualified healthcare provider.🔗 Support the Show: [Insert support link] 📲 Follow Rare Connection on Facebook, X, and LinkedIn 🎧 Subscribe to the podcast and to Joanna’s YouTube channel, Rare Chef, for more rare disease stories 00:00 intro01:52 Glut 1 explained12:13 early signs13:36 care comparison around the world14:46 Health care and education subsidies in New Zealand15:51 Medical Keto diet17:38 Medical foods and  Medical formula20:34 Consequences if an untrained nanny22:02 Diabetes vs Glut 130:49 Challenges and misconceptions34:18 Serena's work with new parents at Starship Hospital46:05 Keto yogurt recipe49:27 Hopes for Education system in New Zealand54:42 Global Disability Summit58:38 Good/ bad days for disabilities01:02:39 self care01:04:13 How Georgia helps01:05:56 Community01:11:36 Food based treatment vs medications01:13:27 Lessons from Georgia01:14:43 Advice for new parents01:15:17 Listener support01:15:55 ConclusionSupport the show