))
Glutaric Acidemia 1 with Serena From New Zealand 2nd Anniversary episode
Manage episode 489714355 series 3485028
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.
🔗 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
57 episodes
Share
