I’ve always struggled to find the right words for what I’m about to describe. Maybe it’s because it feels too vulnerable, or maybe I haven’t fully unpacked the emotions. But as another school year comes to a close, with all the celebration, the final curtain calls, and the proud goals…
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A podcast from the Pacific Northwest Research Institute (PNRI) called PNRI Science: Rare Disease, Real Progress returns for its second season with four episodes that explore how research into rare diseases like aromatic L-amino acid decarboxylase (AADC) deficiency is driving steps forward in healthcare. “Rare disease research is often…
When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I were overwhelmed and unsure where to begin. Initially, our primary concern was survival. After she received gene therapy at 8 months old, we could finally ask the next big question: How…
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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