DURHAM, N.C. - 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, John's mom, Melissa, said he wasn't even close to sitting up or meeting any of his milestones.
"It was a hard reality," Klor said.
A developmental pediatrician diagnosed John with cerebral palsy.
"It kind of took our world and flipped it upside down," Klor 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," said Dr. Dwight D. Koeberl, associate professor, department of pediatrics, division of medical genetics, Duke University Medical Center.
John's body wasn't making any. Within a few months of his diet and adding supplements, John began to walk and talk.
"Watching him develop and grow and do things that, at one point, I thought he'd never do, was incredible to watch," Klor said.
Now, researchers are pushing for newborn screening that would use the same blood test that screens for 29 recommended disorders. Without early intervention, brain damage can be permanent.
Klor is thankful John is one of the lucky ones.
Since John's diagnosis, Klor started a website to raise awareness of creatine deficiencies and help parents going through the same thing. While the disorders are rare, researchers believe they are underdiagnosed.
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