He followed this with a fellowship at Johns Hopkins Medical Center and stayed on eventually becoming a Professor of Pediatrics. Dr. Batshaw continued his father’s example in utilizing both his intuition and his empirical observations in a case that would revolutionize the treatment of a rare genetic disease.

When Dr. Batshaw was a clinical fellow in developmental pediatrics at Johns Hopkins in the early 1970’s he admitted a 12 year old girl who had a history of recurrent episodes of coma and progressive cognitive impairment. She was thought to have a stroke-like disease. Batshaw, however, in taking a history, noted that these episodes occurred after she ate meals having a high protein content. He thought she might be having difficulties metabolizing (breaking down) the protein and was, as a result, accumulating a toxin. Through persistent medical investigation he discovered that she, in fact, had a rare genetic disorder that had only been described for the first time the decade before. She was deficient in a urea cycle enzyme that normally converts toxic ammonia, a product of protein breakdown, to non-toxic urea. The result of this enzyme deficiency was an accumulation of ammonia and resultant brain injury. The only known treatment for this disorder at the time was severe protein restriction which led to malnutrition and early death.  

In attending a lecture a few months later, Batshaw learned of a new compound, keto-acids, which were being used to treat chronic kidney failure which is also associated with protein intolerance but not with elevated ammonia levels. He arranged to use these compounds to substitute for protein in his patient. The keto-acids resulted in a lowering in ammonia levels by binding to it and an improvement in nutrition by converting the keto-acids to amino acids, the building blocks of nutritional protein. 

Barely 30 years old, his report of this innovative therapy was a lead article in the prestigious medical journal the New England Journal of Medicine. Over the next decade, he and his colleague invented a series of incrementally more effective treatments for urea cycle disorders that transformed these devastating diseases from uniformly fatal to treatable. It also created the new concept of alternate pathway therapy, or using a detour around an enzyme block, that is now a staple in treating other metabolic disorders. Now, at age 70, my father, Dr. Mark Batshaw continues to be an active researcher as well as Physician-in-Chief and Chief Academic Officer at Children’s National Medical Center, in Washington, DC and is a Professor and Associate Dean for Academic Affairs at the George Washington University School of Medicine and Health Sciences.

Throughout the course of my life, my father reinforced upon me the lessons he learned from his father and added the incredibly important concepts of hypothesis, observation and experimentation, methods I use in my work today. Perhaps even more importantly, he passed on two important philosophies to me, “Always look outside the box!” and “Do everything in life with passion!”