Access to care for people with rare diseases in the U.S. still varies significantly by state, with ongoing gaps in medical nutrition and insurance coverage that can directly affect whether patients receive timely and affordable treatment, according to the latest State Report Card from the National Organization for…
Discussion
There are certain sounds that instantly wake a parent from the deepest sleep, especially for parents of children with aromatic l-amino acid decarboxylase (AADC) deficiency. A cough. A thud. Silence even feels suspicious to a parent of a child with a rare disease. Then there is the…
The Digital Health Measurement Collaborative Community (DATAcc) has launched a core set of digital clinical measures designed to help support the development of new therapies for pediatric rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency. DATAcc is part of the Digital Medicine Society (DiMe), a collaborative group…
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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