Reminiscences

I was called by a pediatrician about a baby girl in the newborn nursery.   The delivery had been at term without complication.  The newborn, however, had become progressively lethargic and was feeding poorly.  The pediatrician had obtained an ammonia of, let's say, 400.  His words to me when we talked by phone were, "I was going to check it again in the morning."   My words to him were, "Draw another one right now.  I'll be there soon."   The next ammonia was yet higher.  As fast as could be done, the baby was transferred to the University of Minnesota and peritoneal dialysis initiated.  Initial labs had shown ketones in the urine. The diagnosis was propionic acidemia. 

I saw another boy infant for whom the same pediatrician was the primary physician.  By history and examination something bad was happening;  the infant had lost skills and his tone had increased.  When the pediatrician saw the child for an exam before a sedated MRI, he told the mother, "I don't really see anything wrong."  This child had Krabbe's disease.  He had one sibling, a brother a year or so older.  Testing of the brother, who was asymptomatic, showed that he, too, had Krabbe's disease.  Two weeks after giving the parents the devastating news regarding the infant, I sat down with the parents once again about their only other child (see Whole exome sequencing revisited, July 7, 2015).  At the time, there was nothing to be done for the infant, since no one was then considering bone marrow transplantation on a symptomatic infant, and, in short order, he died.  The brother, who is now a college student, was the first recipient of an unrelated cord blood transplant at the University of Minnesota.  Another sibling was born to the family, with chorionic villus sampling done to establish that this sibling was unaffected.