Phenylketonuria (“PKU”) is a treatable condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. This causes levels of the amino acid to build up in the body, which is harmful to the central nervous system and cause brain damage.
Because it’s treatable if detected early, doctors routinely screen newborn babies for PKU. The usually screening test is known as a “Guthrie” test. It is important to the baby’s health that this test be performed early and that the results are appropriately followed up on.
A recent case shows the tragic consequences which can occur when a doctor performs the testing negligently.
The newborn baby at the center of the case had an initial Guthrie test at two days of age. The lab reported the results as elevated levels of phenylalanine. A second test at seven days of age also showed elevated levels. Under established guidelines, the results were positive for PKU.
The lab results were made known to the baby’s family doctor. Rather than starting treatment, the doctor chose to wait until the baby was one month old, at which point he sent him for a third round of testing. This time the lab reported results of “not elevated”. The baby’s doctor chose to do no further testing.
Three years later, over concerns about his mental development, the infant was assessed by developmental paediatrician for further investigation. The investigation revealed that the infant had classical PKU, the most severe form of the disorder. Unfortunately, because of the long delay in diagnosing the condition, treatment was too late. The family sought compensation for the negligence of the baby’s family doctor, who had failed to follow up on the early elevated findings.
After a trial, the judge found that the doctor’s treatment had fallen below the standard of care. The judge stated that the first two elevated test results “should have raised a level of suspicion that [the baby] had PKU”. The doctor should have done diagnostic testing, instead of ordering a third Guthrie test. The judge found that it was negligent for the doctor to have discharged the baby from further follow-up without a diagnostic test.
The doctor appealed the finding of negligence. He advanced what is known as the “respectable minority principle”. This principle holds that where the practice followed by a doctor is adhered to by at least a respectable minority of competent medical practitioners in the same field; it is not for the court to prefer the practice of the majority over that of the respectable minority. The doctor argued that his treatment fell within the “respectable minority”. The Court of Appeal rejected this argument.
In a recently released decision, the Court of Appeal also found in favour of the injured child. It did not accept the “respectable minority” argument, stating that the principle”does not absolve a doctor from liability in negligence whenever there is a conflict in the expert evidence led at trial concerning the reasonableness of a doctor’s conduct”. Instead the Court agreed with the conclusion that that the expert evidence did not establish that the doctor’s decision to order a third Guthrie test in the face of two successive borderline elevated phe levels, instead of ordering a diagnostic test, accorded with a practice adopted by a respectable minority of the medical profession. It found no error in the finding that the doctor’s actions fell below the standard of care and that, accordingly, he was negligent and liable for his patient’s injuries.
This case represents an important ruling for medical patients in Nova Scotia, New Brunswick and P.E.I. who are injured as a result of the negligence of a doctor.