Utah Families Grapple with Glycogen Storage Disease

TOOELE — If 3-year-old Evan skips his routine dose of cornstarch every fourth hour, the cost could be his life. He has to consume.

But too much sugar is also a risk.

So Evan does not eat any fruit or dairy. When his four sisters get to eat ice cream, he gets sugar-free whipped cream. When they go trick-or-treating, Evan’s bag stays empty, except for when a kind neighbor remembers his condition and gives him crayons and coloring books instead.

Evan laughs, plays and runs around like any other child, and there is little to make others aware of the seriousness of his illness.

“You wouldn’t know that his life hangs in the balance every four hours,” Bethany Cruz, Evan’s mother, said.

Evan is afflicted with glycogen storage disease, a rare, life-threatening illness that is more common in Utah than any other state. When Evan was 10 months old, his parents, Bethany and Darin Cruz joined a community of roughly 20 Utah families that care for children diagnosed with the disease, learning of its prevalence in Utah.

According to Dr. David Weinstein, a pediatric endocrinologist at the University of Florida who has devoted his career to GSD research, only about 1 in 200,000 is diagnosed with GSD.

Evan suffers from Type 1A , the most common and severe. Weinstein said children diagnosed with with this type constantly struggle with maintaining safe blood sugar levels. Their livers will store sugar, but not release it.

“If these children stop eating, their blood sugar will rapidly fall, and that puts them at risk for seizures or brain damage, and unfortunately kids even die from low sugars,” he said.

Additionally, when the children consume sugar, its continual storage will cause the liver to enlarge dangerously. If the issue is not addressed, the children’s livers fail. The disease also inhibits the children’s growth, Weinstein said.