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," said Melissa Klor, John's mom.
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 Dwight D. Koeberl, MD, PhD, 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. For more information, log onto www.creatineinfo.org.
Newborn screening is the practice of testing every newborn for harmful or potentially fatal disorders that are not otherwise apparent at birth. Many of these are metabolic disorders (often called "inborn errors of metabolism") that interfere with the body's use of nutrients to maintain healthy tissues and produce energy. Other disorders that screening can detect include problems with hormones or the blood. Usually, state decisions about what to screen for have been used on weighing the costs against the benefits. In general, metabolic and other inherited disorders can hinder an infant's normal physical and mental development in a variety of ways. And parents can pass along the gene for a certain disorder without even knowing that they're carriers. With a blood test, doctors often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development. (Source: www.seattlechildrens.org)
GAMT DEFICIENCY: Creatine deficiency syndromes are inborn errors of metabolism which interrupt the transportation of creatine. Patients with creatine deficiency syndromes usually have intellectual disabilities that are usually severe. Creatine deficiency syndromes are caused by mutations in three genes: SLC6A8, GATM, and GAMT. GAMT (Guanidinoacetate methyltransferase) deficiency is an inherited disorder that primarily affects the brain and muscles. Almost all patients with GAMT deficiency experience recurrent seizures. Most develop autistic behaviors that affect communication and social interaction. It is a very rare disorder and affects about 80 individuals worldwide. Of these, approximately one third are of Portuguese origin. Researchers at Duke University are working on a way to test newborns for this disease. It is part of the growing movement to add some of the rarest illnesses-Pompe disease, Krabbe disease, bubble-boy disease-to the battery of screenings given to U.S. babies after birth. Since 2004, researchers have urged that every newborn be tested for 29 rare but devastating genetic diseases, using that single heel-prick of blood, to catch the fraction who need fast treatment to avoid retardation, severe illness, even death. States gradually adopted those recommendations, and federal health officials say the testing catches about 5,000 babies a year with disorders. Duke is one of the few labs able to diagnose creatine deficiency syndromes. GAMT deficiency may eventually be a candidate for newborn screening, although it is not yet clear if the substances will show up in blood at birth or if a different test will be required. (Source: http://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency and http://usatoday30.usatoday.com/news/health/2010-01-04-infant-genetic_N.htm)