DURHAM, N.C. (Ivanhoe Newswire) - Nearly every baby born in the U.S. blood collected within a couple days of birth to screen for dozens of genetic disorders, but some disorders have slipped through the cracks and aren't tested for. There is an easily treatable disorder that can mimic cerebral palsy, autism, and seizures-but can lead to irreversible damage if not caught early.
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.
"Watching him develop and grow and do things that at one point I thought he'd never do, was incredible to watch," Melissa 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.
Melissa is thankful John is one of the lucky ones.
Since john's diagnosis, Melissa 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. For more information, log onto www.creatineinfo.org.
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