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A success story: Family hopes to raise awareness about creatine deficiency disorders

1.0 from 3 votes
Monday, January 18, 2010

Milestones in John Klor’s life are not going unnoticed by his parents.

“I noticed today that John is able to pull up onto the counter to reach something and lift up onto his tip-toes,” his mother, Melissa Klor, posted to her blog in early December 2009. “I know to some this may seem small and not very significant, but to us it is another great accomplishment for John.”

Melissa and her husband, Wes, a Webb City native, have taken a long journey to be able to see their son, 19 months old, stand on his toes.

The Pine Knoll Shores, N.C., couple, watched as John slipped further behind his peers developmentally and struggled as he was diagnosed with a rare disorder that affects fewer than 40 people worldwide.

But following a treatment plan monitored by doctors and researchers at Duke University Medical Center that has so far been successful for John, the Klors have become dedicated to spreading awareness of their son’s disorder and genetic testing in newborns.

Rare disorders

When John was 6 months old, his parents started to worry that he wasn’t developing as he should have been.

“When he was first born, he was acting like a normal little infant would,” Wes said in a phone interview. “He started doing things with his hands and legs, rolling around, making noises. Then it kind of stopped, and he got kind of wobbly in the head, just kind of wobbling around uncontrollably.”

A neurologist diagnosed his condition as cerebral palsy. Wanting a second opinion, the Klors saw a neurodevelopmental pediatrician, who ordered an MRI and some bloodwork. John underwent those tests when he was about 1 year old.

When the results of the MRI came back, they were inconsistent with characteristics of cerebral palsy. Melissa said that was the worst moment of their ordeal.

“I had already lived with that diagnosis for six months and had come to terms with it,” she said. “(We) went back to square one wondering what John had.”

The Klors were in Joplin visiting Wes’ parents when they got another call from John’s doctors. Based on his bloodwork, John likely had one of three known creatine deficiency disorders — but which one, doctors weren’t immediately sure, Melissa said.

The disorders disrupt the production of creatine, which the body makes from amino acids. Creatine is used by cells to store energy and is important to brain and muscle activity, said Sarah Young, a biochemist geneticist and assistant lab director at Duke University School of Medicine Division of Medical Genetics.

Those affected by the disorders, which are inherited, can have seizures and display a degree of mental retardation or speech delay if untreated, Young said.

Further tests showed that John has a guanidinoacetate methyltransferase (GMAT) deficiency. The disorder causes a lack of creatine in the body and also causes a buildup of guanidinoacetate, which is toxic to the brain, Young said.

Dietary changes

The deficiency is treatable, particularly in young children. Duke University medical staff developed a dietary treatment plan for John, which they are monitoring in their lab, Young said.

John now drinks 20 ounces of a special protein formula per day and takes protein and creatine supplements. Based on his weight, he is allowed 7 grams of protein each day in the form of fruits, vegetables and low-protein pastas, Melissa said.

His meals can include bananas, strawberries and special graham crackers; among his favorite foods are broccoli, cucumbers and corn, Wes said.

“He likes all those things that little kids don’t typically like,” he said.

Once the Klors changed their son’s diet, John himself changed almost immediately.

“It was very, very, very fast,” Wes said, adding that John began progressing within two to three days of starting the new diet. “(His previous behavior) just stopped, it really did. It just stopped.”

The Klors started John’s treatment July 2, 2009, when John was 13 months old. Just one month later, he began crawling, and in October, at 17 months old, he took his first steps.

Spreading awareness

The Klors are now dedicated to spreading awareness of creatine deficiency disorders.

“There are kids out there with undiagnosed disorders,” Wes said. “If they’ve just got one more option (in terms of a diagnosis) to explore, who knows what the possibilities are?”

Melissa said she wants the medical community to learn more about creatine deficiencies. She is also encouraging the addition of such disorders to the list of conditions that states screen newborns for.

Most states, including Missouri, routinely screen newborns through bloodwork for a lengthy list of metabolic and genetic conditions.


Associated Press content © 2009

Author: By Emily Younker
Source: The Joplin Globe
1.0 from 3 votes
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