U Of U Scientists Search DNA To Save A ‘One In A Million’ Boy

Apr 8, 2019, 7:00 PM

SALT LAKE CITY, Utah — About 350 million people in the world are living with a rare, non-diagnosed disease.

University of Utah scientists had a slim chance of diagnosing a Utah boy who was running out of time. They searched his DNA for clues.

A mother’s love defies physical limitations.

“He is my everything,” said August Teuscher, Tyler’s mom.

Though Tyler Teuscher is deaf and legally blind, the bond between mother and son is clear.

“He is like the glue that holds our whole family together,” Teuscher said.

Tyler was a normal, healthy child until he was 6.

“Within that year, he started falling down a lot and his balance was really off,” she said.

Doctors couldn’t solve the mystery.

“Nobody had any idea what was going on.”

All his scans came back normal. But his body was slowly shutting down.

“It was devastating,” Teuscher said. “All I did was cry.”

That’s when they turned to a unique organization at U of U Health. It’s called the Penelope Program.

It’s a meeting of the minds of doctors and scientists from all different disciplines.

They sit around a large table in a conference room and problem-solve. That’s how they were able to help Tyler.

“He was getting worse,” said Dr. Lorenzo Botto, University of Utah Health.

They had to act fast.

“He stopped walking, stopped talking. He couldn’t see,” Botto said.

Tyler’s journey is the subject of a documentary film that premiered at Sundance.  Teuscher said in the documentary, “I was watching a part of him die every day.”

Botto knew the odds were bad.

He and his team did tests that are like, “Google for the human genome,” he said.

They were searching his DNA for 1 random mutation of a gene.

“Like looking for one misspelled word in the entire Library of Congress,” Botto told producers of the documentary. “One child in a million is an important child, who deserves the best of care.”

They believed Tyler had a rare form of a genetic neuro-muscular disease, and that a supplement called SAM-e, found in health food stores, might help him. Tyler took it twice a day.

“Just after a couple of weeks, mom called us and said, ‘I think it’s working,’” Botto said.

Teuscher said, “Within two weeks, his endurance improved like 100 percent. He was going outside. He crawls, and he was just crawling so fast down the halls that he would just take out anybody.”

Tyler is learning to walk again through physical therapy, and getting a little better every day.

Joyful news for Tyler and his family. But breakthroughs like these can also lead to discoveries that treat more common conditions.

Botto said, “This has the potential of changing medicine for all of us.”

For one mother and her son, “That sadness is gone. It’s over, and just having an answer is what did that,” Teuscher said.

A team of scientists and a bond that defies the senses, help a one-in a million boy, heal.

Though Tyler’s case is uncharted territory, doctors are hopeful he’ll continue improving.

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U Of U Scientists Search DNA To Save A ‘One In A Million’ Boy