MuskogeePhoenix.com, Muskogee, OK

Local News

October 21, 2013

Child, family cope with rare disorder

Run to raise awareness of Glut1 deficiency

Abby York can kick a soccer ball, jump on a trampoline and play with the best of them.

Abby, 6, wasn’t always able to be so active. When Abby was only 2 1/2 years old, she had her first seizure, and things quickly spiraled out of control for her family.

April York, Abby’s mother, said Abby was having approximately 30 small seizures per day.

“She was taking five medications, and it wasn’t helping,” April York said. “They were small seizures, but they were constant. We were referred to a neurologist, then had to get another second opinion. They ruled out some bad things using genetic testing, and then referred us to another neurologist.”

In July of 2012, the Yorks finally got an answer — Abby has Glut1 Deficiency Syndrome, or Glut1 for short.

Glut1 is a genetic disorder that impairs brain metabolism, according to the Glut1 Deficiency Foundation. Glut1 (a protein) is responsible for transporting glucose across the blood-brain tissue barrier. The Glut1 protein is made by the SLC2A1 gene, located on chromosome 1. If this gene is damaged by a mutation, the protein is not made, and glucose can’t be transported into the brain cells.

After confirming Abby had the syndrome, April York said the family made a lot of changes, particularly to Abby’s diet.

“We started her on the ketogenic diet,” April York said. “At that point she was on three seizure medications, now she’s down to one, and we hope to phase that one out soon. We have to weigh everything she eats, and she is on a 2-to-1 fat to protein/carbohydrates ratio. She eats pure butter with almost every meal. Every meal has to be planned out with exact measurements. Carbs are minute. It gets tough around Halloween time with all the candy.”

Allen York, Abby’s father, said once they started her on the diet, it made a world of difference in her activity level.

“She was taking gymnastics, and it was a night-and-day difference,” Allen York said. “We had a doctor tell us to video the before and after, and it changed dramatically. She even started soccer last year.”

Glut1 is extremely rare, and York said approximately 600 people have been diagnosed with it worldwide. He said a big problem is diagnosis.

The York family has planned a 5K and Fun Run at 9 a.m. Nov. 16 at the Love-Hatbox Sports Complex Trail to increase awareness of the syndrome.

“We’re really trying to get information out locally,” Allen York said. “We want to raise awareness and raise sponsors for research. There is research in the works now that could pan out to her advantage, and we’d like to keep that going.”

Even Abby’s older sister, Ashton, 11, has gotten in on the action, designing a shirt for the family and for the run. Ashton has also tried to be supportive of her sister by trying some of the same dietary restrictions.

“I’m OK with it as long as she’s doing better,” Ashton said. “But I definitely don’t want to steal any of her meals.”

Reach Travis Sloat at (918) 684-2908 or tsloat@muskogeephoenix.com.

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