My pregnancy with Ava was uneventful, a pleasant experience that led to her planned cesarean delivery at 37 weeks. Ava entered the world weighing 7 pounds and measuring 20.5 inches, letting out a loud cry as she took her first breath. However, the joy of her arrival quickly turned to concern when, just minutes later, […]

Meet Cleo: Despite a healthy start, Cleo faced feeding challenges, seizures, and open-heart surgery before being diagnosed with PDE. Today, she’s a thriving, social 4.5-year-old, proving her resilience every day. Read her incredible journey of strength and hope.

Meet Ruby: A tough start to life led to intense NICU care and heartache before she was finally diagnosed with PDE. Today, she is unstoppable, hitting milestones, making friends, and proving every day how strong she truly is.

Meet Maverick: Diagnosed with Pyridoxine Dependent Epilepsy as a newborn. Read about his journey from life-threatening seizures to a happy, thriving 7-year-old.

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.