John's Miracle: Treatable Disorder Mimics Cerebral Palsy and Autism

FRESNO, Calif. (KFSN) --

Like most kids his age, John Klor loves to play, climb, and conquer.

It is a special feat, considering where his story began. At six-months-old his mom Melissa says he wasn't even close to sitting up or meeting any of his milestones.

"It was a hard reality," Melissa Klor, John's mom, told Ivanhoe.

A developmental pediatrician diagnosed John with cerebral palsy.

"It kind of took our world and flipped it upside down," Melissa said.

Then at 13-months a second opinion changed everything. A team at Duke University Medical Center diagnosed him with a creatine deficiency, known as GAMT deficiency.

"Creatine is essential to the body storing and retrieving energy for normal function of muscle and brain," Dwight D. Koeberl, MD, PhD, Associate Professor Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, told Ivanhoe.

John's body wasn't making any. Within a few months of his diet and adding supplements, John began to walk and talk.Submit

"Watching him develop and grow and do things that at one point I thought he'd never do, was incredible to watch," Melissa said.

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John's Miracle: Treatable Disorder Mimics Cerebral Palsy and Autism