Utah families grapple with rare disease, hope for progress

By Katie McKellar

For the Deseret News

Published: Sunday, July 21 2013 2:00 p.m. MDT

Evan Cruz, who has glycogen storage disease type 1a, plays with his mother, Bethany Cruz, at their home in Tooele, Monday, July 15, 2013.

Ravell Call, Deseret News

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.

Just 35 years ago, children were universally dying from GSD, Weinstein said. But now, many children are living well into adulthood. Uniquely, since cornstarch breaks down at an ideal rate to maintain stable blood sugar levels, treating the children with simple, specifically timed doses grants them not only survival, but also grants them a relatively normal lifestyle.

"Live by the clock'

One of the troubling aspects of the disease is the constant worry the parents of child sufferers must cope with day and night, Cruz said. She said she and her husband “live by the clock."

“There’s nothing worse than that fear when you jolt out of bed and you realize you’ve slept through the alarm,” she said. “There are so many times when I don’t even want to go into the bedroom because I’m scared of what I’m going to see. Is he going to be seizing? Is he going to be breathing?

“And then there’s that guilt because his life is in my hands. If something happens, it’s my fault, and how do I live with that?” she said.

When Evan was diagnosed, his liver was three times its regular size and he was very sick and weak, Cruz said. Because the disease is so rare, it took months to finally identify the problem, she said.

“The doctors did every test they could think of to find nothing, and they said: ‘I don’t know. Sometimes baby boys just don’t like to live. They have to struggle a little harder,’” Cruz said “And that was it. They sent me home.”

If children are diagnosed before 8 to 10 months of age, serious health complications like seizures and brain damage can be avoided.

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