For Kids With Sugar Disorder, Ladles Of Gravy Like Spoonfuls Of Medicine

January 09, 1995|By Trisha Gura, Tribune Staff Writer.

Since Joseph Ruggerio was 8 months old, his doctors have had him eating foods they normally would try to keep their patients away from, like juicy marbled roasts loaded with gravy and served with side dishes drenched in butter.

On the other hand, his mother must diligently keep Joseph, now 6 years old, away from even a single cookie, candy bar or soda.

Without his high-fat, low-sugar daily fare, Joseph would develop seizures, have an abnormally small brain and be plagued by neuromuscular problems.

Joseph, who lives in Mt. Kisco, N.Y., near Westchester, cannot process sugar normally.

So with the diet, physicians are working a kind of biochemical trickery on Joseph's metabolism. His blood has just half the normal levels of sugar in it, so, just like someone exercising hard, his body switches to fat as a secondary fuel source.

Joseph was the first of only 13 youngsters worldwide, including one in Chicago, to be diagnosed with a rare genetic disorder called glucose transporter protein deficiency syndrome. The cause, deciphered only three years ago-in part with deductions from biblical tales-had stumped neurologists worldwide.

Because so little information is available about the syndrome, a meeting was held recently in Chicago in the Drake Hotel to address it.

Sponsored by the Will Foundation-named after Lake Forest resident Will McKenna, 10, who was diagnosed with the disorder in December 1991-the workshop brought together patients' parents, researchers and clinicians to discuss the biochemistry, treatment and incidence of the syndrome.

"The brain does not get enough glucose," explained Dr. Darryl De Vivo, director of pediatric neurology at Columbia University in New York City, who discovered the fundamental reason for the disorder: a malformed brain molecule called glucose transporter-1.

"When lacking sugar (glucose), the brain cannot fuel its own metabolism," De Vivo said. "Disturbances in neurological function result."

That was what happened to Joseph, who was born before researchers had discovered the cause of the strange symptoms.

"I knew something was not right," said his mother, Angela Ruggerio, who had stood by helplessly as the infant experienced his first seizure two and a half months after birth.

"He was jittery, trembling and making sudden, jerky movements," she recalled.

Seeking to stop the seizures, the boy's local doctors prescribed the anti-convulsant sedative phenobarbital. The drug made Joseph-then a mere 10 weeks old-lethargic, but it kept him seizure-free for about a month, according to his mother.

"Joseph was still acting strangely, even after the medications," Mrs. Ruggerio remembered. "He became a quiet, drugged-out child."

When Joseph reached 8 months, local neurologists threw up their hands and sent the Ruggerio family to De Vivo, who specializes in treating epileptics and children with other neurological disorders.

De Vivo turned to the unlikely combination of Scripture and modern-day research to solve Joseph's problem.

"In the Bible, epileptics were told to go off to the woods and fast to cure their seizures," the pediatric neurologist noted. "Later, physicians at the Mayo Clinic were able to simulate the anti-convulsant properties of fasting with a high-fat diet."

De Vivo explained that the curative powers of fasting and eating fat stem from the ability of both to generate breakdown products called "ketone bodies." In diabetics, who have an excess of sugar in their blood, these waste products are poisonous.

But in children like Joseph, whose brains are starved of sugar, the ketone bodies serve as an alternative fuel source.

After his first visit to De Vivo, Joseph began drinking a fat-loaded formula and his symptoms disappeared in four days.

"It was amazing," said Mrs. Ruggerio. "We weaned him off the medications and he emerged as an active, playful little boy."

Meanwhile, De Vivo discovered yet another patient like Joseph and set about trying to pinpoint the reason that patients' brains were starved of sugar.

In 1991, he found an important clue when he began to study a molecule that functions like a delivery truck to shuttle sugar from the blood to the brain across a dense cell layer.

Sugar could not cross the blood-brain barrier in those afflicted with the genetic mutation, De Vivo found. He suspects the problem may be more common than documented so far.

Bill McKenna, who with his wife, Molly, founded the Chicago-based Will Foundation, agreed.

"There are many children who are experiencing undiagnosed seizure disorders," Mr. McKenna said. "Many such may be related to deficient glucose transporters."

McKenna said the foundation's purpose is to help identify and remediate the disorder.

If the illness is left unchecked, an infant will lose nerve cells and thus experience developmental delays. Even with treatment, the balance is delicate.

Mrs. Ruggerio will never forget when Joseph went into convulsions when he accidentally drank regular soda instead of the diet version.