Boy's 'cerebral palsy' was misdiagnosed, fixed with diet

This news might end up causing disappointment to families of people with cerebral palsy if it does not apply to their family, but it would be a shame not to get the info to the probable few who can benefit.

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By Sarah Avery | Raleigh News & Observer

DURHAM, N.C. — The last thing Wes and Melissa Klor want to do is rein in their son when he darts around like 18-month-old toddlers are apt to do.

Just six months ago, the couple had no hope their baby would ever walk, much less run.

As an infant, John Klor failed to reach normal physical milestones and was diagnosed with cerebral palsy.

But last summer, John was instead discovered to have a rare metabolic disorder that affected his ability to process protein, creating a toxic assault on muscle and brain function.

A fairly simple dietary change, along with supplements, resulted in a swift turnaround. Within days and weeks, John went from being unable to bear weight to crawling, pulling up and walking.

"It was really unbelievable," said Wes Klor, 28.

Now doctors and scientists at Duke University Medical Center, where John is being treated, are laying the groundwork for a study to determine whether John's metabolic condition - GAMT deficiency - should be included in the battery of disorders the state screens for in its routine infant blood tests.

The state checks all newborns for 30 life-threatening metabolic and genetic disorders in a program that set national standards more than a decade ago. New disorders are periodically added, if the case can be made for the need.

"A lot of research has to be done to prove we could add this," said Dr. Dwight Koeberl, a medical geneticist at Duke and John Klor's doctor. "But it is a good candidate for screening. It causes severe conditions if it's undiagnosed, and we have a treatment."

Encouraged by John's transformation - and the suspicion that more children like him might have been misdiagnosed to a life of disability - the Duke team and the Klors said they are compelled to press forward.

John Klor had a rough arrival on May 28, 2008. His umbilical cord wrapped around his neck, causing a shortage ofoxygen to his brain. He initially didn't score well on newborn health assessments, but his numbers improved and after 24 hours on oxygen, he was fine.

For a few months, he tracked along with his peers, but then he fell behind, and even regressed. He rolled over a few times, but stopped. He laughed and cooed, and then quit. He had increasingly poor control of his head. He constantly swirled his hands in a fluid wave.

At his six-month checkup, his pediatrician confirmed the Klors' fears that John wasn't developing normally and referred them to a neurologist in Greenville. There, John was diagnosed with cerebral palsy, a broad term describing varying levels of impaired movement.

A major factor in the diagnosis was John's delivery, because oxygen deprivation often leads to brain damage.

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