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
- Learning to swallow pills represents a milestone for my daughter
- What I’d tell my younger self outside my daughter’s operating room
- Why focusing on caregiver self-care is a vital part of the treatment strategy
- AI framework improves rare disease diagnosis support in pediatric cases
- My daughter looks great in her school uniform, but putting it on is a challenge