A day with a cystic fibrosis patient
In my first quarter of medical school, I learned about prenatal screening for cystic fibrosis (CF), a progressive multisystem disease caused by an autosomal recessive mutation in the CF transmembrane regulator gene. We also learned about bronchiectasis, a common pathology of CF that consists of the irreversible enlargement of airways, promoting continuous low-grade bacterial infection and causing deadly respiratory failure.
But despite my hours of studying and memorization, these clinical facts …