My wife, Judy, and I have learned that raising our daughter, Rylae-Ann, rarely involves following a straight path. Rylae-Ann was born with aromatic l-amino acid decarboxylase (AADC) deficiency, a rare neurotransmitter disorder that once prevented her from holding up her head, sitting independently, or speaking. After receiving…
Discussion
In November 2019, my wife, Judy, carried our 18-month-old daughter into National Taiwan University Hospital for an experimental gene therapy. Rylae-Ann couldn’t hold up her head, sit independently, speak, or control her movements. She experienced dystonia and oculogyric crises in which her eyes rolled upward and became…
Discussion
Kebilidi (eladocagene exuparvovec-tneq), an approved gene therapy delivered directly to the brain to treat AADC deficiency, led to clinical benefits even when only a small portion of the targeted brain region was reached by the treatment, according to a small study in France. Clinical benefits were…
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.
Get regular updates to your inbox.
