When Missing a 'Zebra' Can Land You in Court

Mark Crane


February 20, 2018

In This Article

What to Do When You Don't Know What's Wrong

Charles P. Hehmeyer is a plaintiff's attorney in Philadelphia who specializes in inborn errors of metabolism, rare genetic disorders in which the body cannot turn food into energy.

He's represented clients when a heel stick test for newborns was done to test for genetic diseases such as phenylketonuria (PKU). Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. The blood test is generally performed when the baby is 24-48 hours old.

"Every baby is screened, and most findings are treatable if caught early. You withhold or reduce the substance they can't metabolize," he said. "Negligence can occur in several ways. Labs may design a screening process that's flawed and leads to false negatives. The phlebotomist who collects the sample may do it at the wrong time, such as 8 hours after birth, when the child will more likely test negative."

"Some hospitals, especially smaller ones, will batch the samples, waiting until they have 20 or so before sending them to the lab. By that time, days have gone by, and the lab may not report the result in a timely fashion. By then, the child is seriously ill. After 72 hours of feeding, a child thought to be wellborn may become lethargic, vomits, has acidosis, and ketones in the urine. The doctors tend to think sepsis rather than a metabolic problem. They assume the lab will tell them if it's metabolic. Some kids get sick very quickly before the results are available, and by that time the child is dead or brain damaged. There's a need to refer to a pediatric intensivist much sooner."

"I have a case involving a baby who had a nasolacrimal duct obstruction. It's common to see blockages in part of the tear ducts. Rarely, the duct is plugged at the top and the bottom. There's a severe danger of infection. The pediatrician conceded that he'd never seen a case like this before. But he did nothing. He told the mother to come back in 2 weeks if there's no improvement. By that time the child suffered septic shock and brain damage," said Hehmeyer.

"The child's mother is a pediatrician herself. She knows how incredibly rare the condition is and didn't fault the doctor for not knowing how to treat it. If he had said honestly, 'I don’t know what this is,' she would have called a pediatric ophthalmologist. But the doctor said, 'No big deal, we'll check it in 2 weeks.' That's negligence not to find out more."


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