Meet Finley: Born via C-section and diagnosed with Pyridoxine Dependent Epilepsy after a series of life-threatening seizures. Read about her journey from those terrifying early days to a thriving, seizure-free life.

Meet Jack: After months of misdiagnoses and intractable seizures, Jack was finally diagnosed with Pyridoxine Dependent Epilepsy. Read about his challenging early journey and how he’s overcoming the odds every day.

Understanding Pyridoxine-Dependent Epilepsy and Dietary Management: A Guide for Families.

Great news for those affected by rare metabolic disorders! Moderna’s new investigational treatment for methylmalonic acidemia (MMA), and work with Propionic Acidemia. This initiative aims to accelerate the development of promising therapies for rare diseases.

Dr. Houten’s work on substrate reduction therapy for GA1 and its implications for related pathways such as PDE offers a glimpse into the future of treatment for rare genetic disorders.

We are thrilled to announce two upcoming webinars for the Pyridoxine-Dependent Epilepsy (PDE) community.

Register for our 2024 Webinars for the PDE Community. After registering, you will receive a confirmation email containing information about joining the meeting.

Big news, everyone! We’re putting together the very first face-to-face meet-up for the PDE community.

Following the webinar, we identified several critical action items to better support families affected by PDE and advance our collective understanding and management of this condition.