Toddler’s delays reversed by diet

McClatchy Newspapers

DURHAM, N.C. — The last thing Wes and Melissa Klor want to do is rein in their son when he darts around like 18-month-old toddlers are apt to do.

Just six months ago, the couple had no hope their baby would ever walk, much less run.

As an infant, John Klor failed to reach normal physical milestones and was diagnosed with cerebral palsy.

But last summer, John was discovered instead 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 Wes Klor, 28.

Now doctors and scientists at Duke University Medical Center, where John is being treated, are laying the groundwork for a study to determine whether John’s metabolic condition — GAMT deficiency — should be included in the battery of disorders North Carolina screens for in its routine infant blood tests.

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.

Encouraged by John’s transformation — and the suspicion that more children like him might have been misdiagnosed to a life of disability — the Duke team and the Klors said they are compelled to press forward.

John Klor had a rough arrival May 28, 2008. His umbilical cord wrapped around his neck, causing a shortage of oxygen to his brain. He initially didn’t score well on newborn health assessments, but his numbers improved, and after 24 hours on oxygen, he was fine.

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 Greenville. There, John was diagnosed with cerebral palsy, a broad term describing varying levels of impaired movement.

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 Klor said. The neurologist was so sure of the diagnosis that she didn’t insist they get a brain scan for confirmation.

Melissa, 27, said she was prepared to fill her days at their home in the Carteret County coastal community with regimens to help John, and Wes, a former Marine who continues to work on Harriers as a private contractor, re-evaluated the dreams he had for his first-born son.

“We were ready to have to spend a lot of time taking care of him,” Wes Klor said.

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. Karen Harum in Wilmington. Dr. Harum told them John had some classic symptoms of cerebral palsy, including the repetitive hand motions, but she wasn’t convinced. She urged the Klors to get additional blood tests and the brain imaging to rule out other causes.

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 Duke to be read by genetic experts, were unusual.

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.

The Duke team discovered that John’s condition was GAMT deficiency (short for guanidinoacetate methyltransferase deficiency).

About 40 cases have been described in the medical literature worldwide since the deficiency was identified in 1994.

John Klor’s treatment started immediately after the diagnosis in late June. For the rest of his life, he can eat very little protein, and instead must take a supplement that gives his body the amino acids it needs.

He also requires three other supplements of essential nutritional building blocks that his body doesn’t produce.

The Klors said the results were almost overnight.

“Every day we’d wake up, and he was a little bit different,” Wes Klor said. “It was so fast — so fast. It was like flipping a switch, and he’s come out.”