Diet alters course of rare metabolic disorder

Search for answers brings parents to Miami Children's Hospital

Published On: Aug 09 2013 11:00:00 PM EDT   Updated On: Aug 10 2013 05:39:30 PM EDT
image metabolic disorder
CORAL GABLES, Fla. -

Nine-year-old Caroline Melendez loves to cook with her mom and dance with her older brother, but for years spent much of her time confined to a wheelchair and bound by a walker.

"It was a miracle when she was born and then six weeks after, almost everything was gone," said her mother Marjorie Caro.

A few weeks after birth, Caroline had a seizure and started turned blue.

"I put her on the floor and started giving her CPR and I just remember those moments just praying she would come out," said her father Manuel Melendez.

Caroline was initially diagnosed with cerebral palsy, but her parents said that didn't make any sense.

"We're both physicians and we knew that was a long term condition but she was getting worse and worse," said Caro. "She was not getting better and that is not what cerebral palsy does. You're supposed to be stable."

Over the next several years, Caroline went through tests at some of the top hospitals in the country.

"Every visit to the doctor was a nightmare with a new question," said Caro.

Their questions were finally answered when they came to Miami Children's Hospital where a team of specialists diagnosed her with a rare metabolic disorder called Glucose Transport Defect, or Glut 1 Deficiency.

"People used to think, 'Oh, genetic disorders, they're not treatable,' but now we have so many metabolic disorders, so many genetic conditions where there's a wide variety of treatment," said Dr. Prasanna Jayakar.

The core of the treatment for Glut 1 Deficiency is something called the Ketogenic diet.

The diet is high in fat to help nourish the brain in the absence of glucose, and can help mitigate many of the symptoms.

"Certainly her seizures have gotten better, her walking has gotten better, her speaking has gotten better so she's more aware and clinically in society. She's doing very well," said Jayakar.

"Now she's become more spontaneous, she can say what she wants and we could never imagine that before because she only repeated what you said," Melendez said.

Doctors cannot say how far Caroline will go in her development, but every small step forward is music to her parent's ears.