Utah Families Grapple With Rare Disease, Hope for Progress

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Monday, July 22, 2013

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.

“Unfortunately, there’s still many children in this country who are not making it because of the lack of knowledge about GSD,” Weinstein said.

Cruz said she encourages parents to trust their instincts and pay attention to the symptoms — delayed growth, enlarged bellies, and restless sleep — to prevent a late diagnosis.

“As mothers, we know,” she said “Fight for your child, and don’t always just take the first answer you get.”

Help in Utah

Previously, parents would have to travel all the way to the University of Florida to find proper GSD care from Weinstein. However, now that Weinstein has been working with Dr. Ashley Warnock from the Primary Children’s Medical Center’s Division of Genetics, medical care for children suffering from GSD in Utah has improved.

“We’ve made a lot of progress with the Primary Children’s team,” Weinstein said. “I would like to see Primary Children’s become one of the centers of excellence for GSD, and we’re on our way.”

Weinstein said he sees more cases from Utah than any other state in the U.S. He said the occurrence might be because Utah families tend to stay in the same area for long periods of time and have many children, creating more possibilities for genetic disease to surface.

“In some of the more rural areas in the valley, you have families that have been there for 100 years that haven’t moved very far, and you have a lot of big families, so the gene spreads very quickly as a result,” he said.

To inform parents of Primary Children’s Medical Center’s ability to provide proper GSD medical care, Weinstein and Warnock are scheduled to speak at a conference in Salt Lake City Friday and Saturday. Families with children suffering from GSD from all across the Western states will gather to share stories and learn more about GSD.

“We want to help make people aware that we have a clinic here and that we’re capable of providing good care for their children, so they can come here if it’s closer for them than going to Florida,” Warnock said.

The families will already know each other to an extent, since they all participate in a worldwide, online community called GSD Life, which was created by a family in Utah with five children diagnosed with GSD.

Weinstein said GSD Life has been the most important advancement in terms of education about the disease, as families turn to each other on the site for emotional and medical support. They share recipes, treatment tips and more, information many people across the world wouldn’t have access to from doctors that do not have sufficient knowledge about the rare disease, he said.

“There’s a lot of families who have to deal with these really rare disorders and it’s difficult for them, so any community support that is provided really makes a difference,” Warnock said.

Cruz, community director of the GSD Life Board, volunteered to host and organize the conference in Salt Lake City.

“My hope is that we’ll get as many people as we can from the Western United States to be able to come together,” Cruz said. “The support we get from each other is amazing, and so is being to have time with the doctors and getting some awareness out so people can understand us.”

Public awareness needed

Weinstein said more public awareness of GSD would help progress his and other’s research for GSD medical care. Multiple charities have been set in place to ensure the progression toward a cure, and progress is uphill, he said.

For example, Weinstein’s research recently lead to a cure of GSD in dogs, which have been found to naturally have GSD just like humans, he said.

“We have been able to perform gene therapy in the dogs and not only get the dogs to survive, but we’ve also been able to get them off treatment,” he said. “And so that offers hope that we will one day be able to bring that treatment using gene therapy to people to help the children be medically stable and get them off their treatment.”

Weinstein was recently awarded the international humanitarian award, the Order of the Smile, for his research and his efforts to help children with GSD. The award is the same once given to Mother Theresa and Nelsen Mandela.

“When I decided to persue this I was told by everybody at Harvard that I was crazy,” he said. “Why dedicate my career to a disease that affects so few people?...But this disease is important to the families who have children (who suffer from it). A child should not suffer just because their condition is rare, so to see that it’s made a difference and to receive that recognition really means a lot to me.”

Cruz said while dealing with her son’s illness remains challenging, she said she feels fortunate he was brought into the world during a time when treatment was possible and advancements are in sight.

“I really feel like he’s been given a chance to have a normal life,” she said. “I don’t fear the future. It can only get better.”

Contact
Katie McKellar
Email: kmckellar@deseretnews.com

Source: The Deseret News

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