1 - Genetic Confusion

Summary

The patient was a tiny baby, just 2 days old, breathing abnormally fast. Eventually things settled down and the baby was sent home. But in the months that followed, her parents kept bringing her back to A&E with severe breathing difficulties and blood that was abnormally acidic. Each time, a tiny sample of blood was taken for tests. What might be going on?

The year was 1984 and this was the National Unit of Human Genetics at the American University Hospital in Beirut, Lebanon. I had gone there a few years earlier to set up a new laboratory of biochemical genetics as part of the Unit.