Wrong Diagnosis Prompts Doctors To Question If Genetic Disorder Is Widespread

John Klor was diagnosed with cerebral palsy after losing oxygen at birth and experiencing developmental delays. But a second opinion found that Klor had a unique genetic disorder instead and a simple diet change brought the toddler to full function.

Now scientists are researching whether Klor’s experience is widespread enough to merit inclusion in a battery of routine blood screenings in infants. Doctors working with Klor’s family suspect there could be many people across the country inaccurately diagnosed to a life of severe limitation simply because this rare genetic disorder has not be identified.

As a baby, Klor developed normally, but soon began missing milestones for physical development. A doctor diagnosed the boy with cerebral palsy and his parents began to accept that their son would never walk.

But Klor’s brain scans didn’t jive with those of a baby with cerebral palsy and the boy’s parents sought a second opinion. Soon enough, a urine sample came back showing a genetic disorder so rare scientists re-ran the test thinking it was flawed.

Turns out, Klor’s difficulties were the result of a metabolic condition called GAMT deficiency, which prevents the body from appropriately processing protein. Over time, that can lead to developmental delays, speech difficulty, seizures, movement problems, intellectual disability and autism.

Once treated, however, with a diet change and supplements, Klor’s parents saw improvement within days. Now at just 18-months-old, the boy is running around like any other toddler and is expected to continue developing normally, reports the Raleigh News and Observer. To read more click here.