Richard Poulin, father of a young girl with aromatic L-amino acid decarboxylase (AADC) deficiency, describes his daughter’s diagnostic journey.
AADC deficiency is a rare genetic disorder that affects the nervous and musculoskeletal systems of young patients. It is caused by a defect in the dopa decarboxylase (DDC) gene, which leads to a reduction in the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin in the brain.
As Mr. Poulin explains, when his daughter, Rylae, was a few months old, she began to exhibit signs that something was wrong. Mr. Poulin and his wife sought out a diagnosis; however, the diagnoses given to them didn’t align with what the symptoms they were seeing in Rylae at home. When Rylae was about 6 months old, Mr. Poulin came across an article about AADC deficiency and reached out to a prominent doctor in the field, Paul Wuh-Liang Hwu, MD, PhD, at the National Taiwan University Hospital. The diagnosis was confirmed with a spinal tap and genetic testing. Rylae was later part of a successful clinical trial involving gene therapy for her ultra-rare condition.
For more information about AADC deficiency, visit checkrare.com/aadc-deficiency/
