Widening the Ethical Lens in Critical Care Settings

Sophia is a 5-month-old infant who was prenatally diagnosed with asphyxiating thoracic dystrophy, or Jeune syndrome, a rare autosomal recessive genetic disorder affecting bone growth. Those with Jeune syndrome have very small chests that restrict lung growth and respiratory function, “short ribs, shortened bones in the arms and legs, short stature,” and polydactyly.¹  The long-term prognosis varies widely for infants diagnosed with Jeune syndrome; some survive into adolescence or adulthood, but many succumb to pulmonary insufficiency or infections during the first 2 years of life. After infancy, children with Jeune syndrome may develop renal insufficiency. Less common features include heart defects, liver disease, pancreatic cysts, and retinal dystrophy.

Sophia was born via planned caesarian delivery at 38 weeks’ gestation; her mother’s pregnancy had been carefully monitored. At 3 weeks of age, Sophia developed increasing difficulty with breastfeeding, experiencing cyanosis and severe respiratory distress that necessitated critical care hospitalization and...