In 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.
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🎧 Subscribe to the podcast and to Joanna’s YouTube channel, Rare Chef, for more rare disease stories
00:00 intro
01:52 Glut 1 explained
12:13 early signs
13:36 care comparison around the world
14:46 Health care and education subsidies in New Zealand
15:51 Medical Keto diet
17:38 Medical foods and Medical formula
20:34 Consequences if an untrained nanny
22:02 Diabetes vs Glut 1
30:49 Challenges and misconceptions
34:18 Serena's work with new parents at Starship Hospital
46:05 Keto yogurt recipe
49:27 Hopes for Education system in New Zealand
54:42 Global Disability Summit
58:38 Good/ bad days for disabilities
01:02:39 self care
01:04:13 How Georgia helps
01:05:56 Community
01:11:36 Food based treatment vs medications
01:13:27 Lessons from Georgia
01:14:43 Advice for new parents
01:15:17 Listener support
01:15:55 Conclusion
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