Beyond the Diagnosis: Meet the Creators Making Their Mark While Living with Organic Acidemias From wellness entrepreneurship to artistic expression and social media storytelling, members of the organic acidemia community are using their creativity to connect with others and make
Finley – Pyridoxine Dependent Epilepsy (PDE) Finley was born via C-section due to a few complications. I was almost 42 weeks pregnant, and my body was not ready to give birth yet. Her heart rate started to drop when we
Jack, Pyridoxine-Dependent Epilepsy Jack was born seemingly healthy but fighting an invisible battle inside his little body. On Jack’s second day home from the hospital and fourth day of life, he started to become agitated in an abnormal and inconsolable
Sannae, Methylmalonic Acidemia, (MMA Mut 0) “I was only just born when my parents started to feel that something wasn’t right with my health,” Sannae says. “I had trouble eating and was weak and lethargic. I also looked very pale.
Every Meal Is a Science Experiment: Raising Zara with Isovaleric Acidemia At the center of every calculation is not a medical condition. It is Zara. Curtis, father to Zara When people first meet our daughter Zara, they do not see
Our Journey with Propionic Acidemia in Ecuador: Eithan’s Story English Spanish English Eithan Arana is a 5-year-old boy from Ecuador, the youngest child in a family of four, with an older brother who is 8 years old. His story reflects
Gabriell, 26 years old, PA Hi all! My name is Gabriell Snyder. I’m 26 years old and was the first case of PA diagnosed through newborn screening in the state of Massachusetts. My first few years on this earth were
Eli, 4.5 years old, GA-1update In the Fall 2024 Newsletter, Mike and Sandra Wagner shared their story about their son, Eli. Diagnosed with GA1 through newborn screening, Eli suffered a metabolic crisis at just 5 months old. By the time
Emerald, GA-1 Update Emerald is a vibrant, determined three-year-old who happens to live with Glutaric acidemia type 1 (GA1), a rare metabolic disorder that requires careful, lifelong management. While her diagnosis shapes the structure of our days, it does not
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