Epiphany moment pays off for Strauss, patients

Many doctors speak of life-shaping moments that make years of hard work worthwhile -- epiphany moments if you will.

For heart specialist, Arnold Strauss, M.D., one of those moments happened eight years ago.

"It was the first baby we saved, based upon our emerging knowledge of fatty acid oxidation disorders (FODs)." said Strauss, James C. Overall Professor and Chair of Pediatrics and medical director of the Monroe Carell Jr. Children's Hospital at Vanderbilt. "The baby (Katie Frakes) was being taken care of in an intensive care unit by a neonatologist who was the wife of a colleague. She had heard us talking about these genetic, metabolic disorders we were studying in our lab, called FODs. She asked if the baby's illness could be related to an FOD disorder because the mother had suffered from acute fatty liver of pregnancy, also a sign of these disorders."

Years before, an adult cardiologist had come to Strauss' lab to study children with cardiomyopathy, or those who had died from heart failure that appeared to be related to the accumulation of certain fatty acids in the body. His lab began to take a close look at a relationship between the heart and certain enzymes in the body that are used to break down fat to create the energy for the heart's pumping action.

"The heart needs incredible amounts of energy and needs a consistent, dependable source," Strauss said. "The heart derives 70 to 80 percent of its fuel from fatty acids, a more efficient and dependable source."

A baby with an FOD is born without one of the special enzymes that generate energy from fats. The heart is left depending on glucose-- a system that can fail. A newborn with an FOD has enzyme deficiencies with names like MCAD, VLCAD and SCHAD. Each can be deadly.

"Stressors, like viral illness, exercise, or an infection can all cause a crisis," Strauss said. "There are different degrees of severity of these disorders, but in the most severe cases, babies don't live to their first birthday."

In 1997, when the neonatologist asked Strauss to test Katie, he took some samples. "Three days later, the baby's mother, Mary Frakes, called from an Emergency Department in a rural town in Missouri in a panic and asked if Strauss could help. "Upon our advice, the E.D. gave the baby a bunch of intravenous glucose and saved her life," Strauss said.

"Katie had been so lethargic that day. We knew we had to take her to the ER," Frakes recalled from her home in Caledonia, Mo. "I just remembered what Dr. Strauss had said about Katie possibly having a disorder, and called him. While I was talking to him, Katie had quit breathing, and it took four hours to resuscitate her. When she was transferred to the children's hospital he was waiting for her."

Katie is now an 8-year-old elementary school student, legally blind, with a bit of a developmental delay; residual effects of the lack of oxygen she suffered as her heart failed that day in the ER. But her heart recovered just fine and she is alive and thriving because of a special diet, and the massive doses of glucose Strauss prescribed to reverse her cardiac crisis.

Five years later, prenatal testing showed Katie's little brother too had a fatty acid oxidation disorder. He got special formula from birth and is now an appropriately developing 3-year-old.

The simple fix of using formulas mixed to reduce the fatty acids the baby can't digest, and packing it with other fatty acids to keep the heart well fed has worked very well, so far. And now newborn testing is designed to detect FODs earlier, making preventive treatments better. And it's working.

Last winter, Joseph Steuwe was born at a Clarksville, Tenn. hospital. A few drops of his blood were sent to the State Department of Health as part of newly expanded public newborn screening. A few days later his parents were called by the Division of Medical Genetics at Vanderbilt Children's and Joseph became the first child in Tennessee discovered to have an FOD called VLCAD -- with no known family history or indications of problems at all.

An epiphany has become life's work for Strauss, who now has $1.6 million in funding from the National Institutes of Health to study mouse models and to follow young patients with FODs. "This is clearly one of the most preventable of all problems that affect the heart," Strauss said. VM
- Carole Bartoo