Child diagnosed with Cerebral Palsy had creatine deficiency
(05/16/14) - Nearly every baby born in the U.S. is screened for dozens of genetic disorders, but some disorders have slipped through the cracks.
Like most kids his age, John Klor loves to play, climb and conquer.
It's a special feat, considering where his story began.
At 6-months-old, his mom Melissa says he wasn't even close to sitting up or meeting any of his milestones.
"'Is he doing this?' I was like, 'No.' 'Is he doing this?' 'No'. And so that was kind of a hard reality," she said.
A developmental pediatrician diagnosed john with Cerebral Palsy, 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. Kohn's body wasn't making any. Within a few months of his diet and adding supplements, Hohn 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.