What are the chances that a girl from Taiwan would marry a man from the U.S., whom she happened to meet in Thailand, and unbeknownst to them, they were both autosomal recessive carriers of an ultrarare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency? Even though…
Rare Disease Day 2022
Recent Posts
- Gene therapy helps children with AADC deficiency gain movement skills
- Sleep was one of the biggest battles for our child with AADC deficiency
- Gene therapy Kebilidi helps boy with severe AADC walk, run: Case report
- The lessons from the first 7 years that helped us stop chasing a timeline
- Genetic testing may help tailor medications for rare disease patients