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Bluffdale family helps develop test for rare, inherited disorder

By Heather Simonsen | Posted - Dec. 5, 2016 at 7:04 p.m.


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BLUFFDALE — Four-year-old Louis Wallis loves superheroes and all they can do. By taking his medicine, Louis can do all he wants to do, too.

He has GAMT deficiency, a rare, inherited disorder. His body can't make creatine: a compound in the blood necessary for brain and muscle development. His 13-year-old sister, Sam, has it too.

Sam is developmentally delayed. Doctors didn't diagnose her until she was 5 years old. She spends most of her day in a special education classroom. At Louis's age, she struggled.

"Sam was nonverbal," said Heidi Wallis of Bluffdale, Sam and Louis' mom. "She was just starting potty training right before she turned 5 and just unable to communicate her needs or feelings."

The difference? Doctors caught Louis' disorder at birth. So Heidi Wallis is on a mission: have all newborns in the U.S. screened for GAMT to save other kids from Sam's fate.

"She was behind in every way, and he is none of those," Wallis said. "He's been potty trained for years, and he talks a mile a minute. The difference is undeniable."

Utah is the only state that screens babies for GAMT using a test developed at ARUP Laboratories using Louis' newborn blood sample.

"He helped develop the test, which is really cool," she said.

Doctors Marzia Pascuali and Nicola Longo developed the test, which is cheap and easy to do. It's just a simple heel prick. They recently made their case to a national committee that advises the U.S. Department of Health and Human Services on which disorders to screen newborns. It was denied.

"It's not expensive, it's not complicated," said Pascuali, of ARUP Laboratories. "It's a no-brainer, yeah."

For these doctors, who are married, the fight has become personal.

"As a parent, it would be a tragedy for me to have a child who had something that could have been preventable and nothing could be done to prevent it from happening," said Longo, of University Healthcare.

Sam takes creatine daily, along with Louis, and it's helping. But with 5 1/2 years lost, she's never caught up. Louis has no abnormalities.

"It saved his life, literally," Wallis said. "I mean, he has a life. He has a future. He can live independently. His future is open-ended. He can go to college, he can get married. He can have children. He can drive a car. He can do all the things you want your children to do."

She wishes they could do more for Sam, but hopes to be a superhero for other families.

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Heather Simonsen

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