Unique Screening Detects Rare Disorder In First Utah Baby
TAYLORSVILLE, Utah – History is being made in Utah as the state’s newborn screening lab has identified the very first baby with a disorder called GAMT. As a result, the baby boy can be treated now so he can live a healthy and normal life.
Guanidinoacetate methyltransferase (GAMT) is a deficiency that affects the body’s ability to produce creatine. It can cause severe neurological problems including intellectual disability, limited speech development and seizures.
— Dan Rascon (@TVDanRascon) December 30, 2020
“Lots of gratitude in our hearts,” said Becky Tribe, mother of baby Woodward.
Becky and her husband Stew said it was a miracle that their baby was diagnosed because they just recently moved from Los Angeles.
“Didn’t plan on having Woodward here [in Utah]. The fact that he was born here and that Utah is one of the only states that screens for GAMT, it’s just like the stars aligned perfectly and then they aligned again,” said Stew.
“With treatment, he should be able to live a pretty normal life,” said Becky.
The newborn screening for GAMT in Utah has a lot to do with Heidi Wallis who has fought to have this screening done in all states.
Wallis has two children with the disorder. Her daughter, Sam, 17, was not diagnosed until she was five years old.
She said it’s been a long and difficult road, dealing with a variety of physical limitations and seizures.
“She was a beautiful little baby girl and she seemed typical for me as a first-time mom,” said Wallis. “The longer this is untreated, the more severe it is.”
But her 9-year-old son Louis, who was diagnosed early on, has had a normal and healthy life, by taking creatine four times a day.
The newborn screening lab in Taylorsville tests every baby born in Utah for 42 types of infections.
Dr. Andy Rohrwasser, director of the laboratory, said finding GAMT early on in little Woodward was worth all the work.
“It’s incredibly exciting and rewarding,” said Dr. Rohrwasser. “We made a huge impact on that little boy because that little boy is now treated with the best care and will not suffer these symptoms.”
Utah, New York, and Michigan are the only states that screen for GAMT.
Heidi said she wants to add more.
“The instrument needed for this test and the sample needed for this test is already happening in every state. They use the right equipment,” she said. “They just need to add this one value and look for GAMT.”
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