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

Rare Connection

Formerly Nutrition Equity, rare connection is an extension of the podcast to include all 10,000 rare conditions and not just those covered by the Medical Nutrition Equity Act. Some of the conditions may be the same, but I am trying to turn this into a learning experience for those in the medical feild, policy leaders, and those who are just interested in hearing about rare conditions and patient stories. Rare conditions are called zebras hence the zebra striped ribbon. More common conditions are called horses. Doctors tend to learn a lot about the common conditions, but rare conditions are a paragraph in a text book at best because the medical field isn't looking at the whole picture. Rare conditions when combined are actually bigger than cancer and strokes combined and if you have a rare condition you most likely have more than one or will develop another within your lifetime. As someone with a rare condition myself (Homocystinuria or HCU), know that having a rare condition can be very lonely. Thereis normally a phsycological aspect to any rare condition, and because of lack of understanding they often go undiagnosed or misdiagnosed which can cause serious health consequences or even death. If you are interested in talking and feel comfortable on camera please contact me at joanna.ball41@gmail.com. I have a visual version of this podcast on YouTube also under my cooking channel Rare Chef.

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Rare Connection

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

June 18, 2025 • Season 5 • Episode 3

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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

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