Even before our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, began taking meticulous notes. We were not writing a book. We were just trying to understand what was happening to our family. AADC deficiency is an ultra-rare genetic disorder that…
Discussion
Our daughter, Rylae-Ann, was born with aromatic l-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder that affects the brain’s ability to produce dopamine and serotonin. Before receiving gene therapy in Taiwan in 2019, she couldn’t sit independently, crawl, walk, or speak. Today, she runs, attends school, argues with…
Discussion
Before our daughter, Rylae-Ann, received gene therapy when she was just 18 months old, she needed her first haircut to make space for the surgery. Most parents might mark this milestone with a special trip to a children’s salon, a tiny envelope for the first curl, and several dozen photographs.
Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic and neurometabolic disease that affects the nervous system. Learn more about the disease here.
AADC deficiency can affect many aspects of a person’s life, including mobility, breathing, sleeping, and eating. Learn more here about different ways to manage the condition, adapt, and handle everyday tasks.
There is not yet a cure for AADC deficiency, but there are approved treatments that can help manage the condition, as well as experimental treatments in the pipeline. Learn more about treating the disease here.
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