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Boy's ‘cerebral palsy’ fixed with diet By Anya Martin
http://www.JewishWorldReview.com | (MCT)
DURHAM, N.C. — The last thing Just six months ago, the couple had no hope their baby would ever walk, much less run. As an infant, But last summer, John was instead discovered to have a rare metabolic disorder that affected his ability to process protein, creating a toxic assault on muscle and brain function. A fairly simple dietary change, along with supplements, resulted in a swift turnaround. Within days and weeks, John went from being unable to bear weight to crawling, pulling up and walking. "It was really unbelievable," said Now doctors and scientists at The state checks all newborns for 30 life-threatening metabolic and genetic disorders in a program that set national standards more than a decade ago. New disorders are periodically added, if the case can be made for the need. "A lot of research has to be done to prove we could add this," said Dr. Encouraged by John's transformation — and the suspicion that more children like him might have been misdiagnosed to a life of disability — the
For a few months, he tracked along with his peers, but then he fell behind, and even regressed. He rolled over a few times, but stopped. He laughed and cooed, and then quit. He had increasingly poor control of his head. He constantly swirled his hands in a fluid wave. At his six-month checkup, his pediatrician confirmed the Klors' fears that John wasn't developing normally and referred them to a neurologist in A major factor in the diagnosis was John's delivery, because oxygen deprivation often leads to brain damage. The Klors were devastated. "We left that office not knowing what to do," Melissa, 27, said she was prepared to fill her days at their home in the "We were ready to have to spend a lot of time taking care of him," But the Klors wondered about the diagnosis, especially because they hadn't gotten the brain scan, and they decided to seek a second opinion from a neurodevelopmental specialist, Dr. The brain scan, an MRI, showed little of the telltale damage to the parts of the brain that characterizes cerebral palsy. And John's serum tests, which had been sent to A urine sample revealed a surprising result — a condition so rare the genetic group figured the screener had run the test incorrectly. They ran a second test and it came back identical. John had a genetic disorder in which he wasn't processing protein properly. "It was kind of exciting," said But it was unclear which of three protein malfunctions was the culprit: an extremely rare, but treatable form, or two others that were less rare, but had worse prognoses. "I was like, dear God, let it be the rare one," The biochemical genetics lab at The About 40 cases have been described in the medical literature worldwide since the deficiency was identified in 1994. The GAMT gene tells the body how to process protein into energy for muscles and the brain — a complex process involving an exact choreography of merging and diverging components of the essential nutrient. A faulty gene can cause a major disruption in that synthesis. It's as if a dam occurs in the protein stream, so certain nutritional building blocks clog to toxic levels on one side, while other essential components aren't released on the other side. The result is damage to the body and brain that increases over time, including developmental delays, lack of speech, seizures, movement disorder, mental retardation and autism. "We do suspect these disorders are under diagnosed," Goldstein said. Because no one tests for them, they aren't found, so they may actually be less rare than the literature would suggest. And that may mean some children who could be helped are, instead, diagnosed and treated for other profound disabilities — to no avail. The The tests, using five drops of blood collected on every baby born in hospitals, began in the 1960s to catch cases of PKU, a treatable malfunction in the processing of amino acids. "With many of these disorders we screen for, the effects can be mitigated by changing the diet or adding a supplement," said
The Klors said the results were almost overnight. "Every day we'd wake up and he was a little bit different," In late July, when John was 14 months old, he began to crawl. The next month he was pulling up. He took his first steps At It's a miraculous outcome that keeps "I just keep thinking, what if?" she said. "What if the geneticist wasn't in the lab that day? What if we hadn't gone to the (second) neurologist? What if we had just accepted the cerebral palsy diagnosis?" Then John squirmed out of her arms and made a dash toward the exit, not even glancing back.
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