Mpls. couple hopes new genetic test can help find what's wrong with their son

  • Article by: MAURA LERNER , Star Tribune
  • Updated: June 24, 2013 - 5:47 AM

Minneapolis couple hopes whole exome sequencing can find a clue that might help explain their 2-year-old son’s medical mystery.

 

At age 2, Wendell Sherman-Strand still can’t sit up, walk or talk. The curly-haired Minneapolis boy doesn’t have the muscle control to grab a rattle or stand on his own.

And nobody knows exactly why.

So far, every test his doctors have run to find a diagnosis has come up empty. Now, his specialists at the University of Minnesota want to comb through his DNA for an answer.

They’re sending a teaspoon of his blood to a lab in Texas to sequence his genetic makeup.

Wendell is one of the first patients at the university to undergo the newest generation of genetic testing, known as “whole exome sequencing.”

In effect, it allows scientists to go on a fishing expedition through the human genome in search of troublesome mutations.

“Instead of testing one gene at a time, we’re testing really all known genes simultaneously,” said Dr. Christine Eng, senior director of the Medical Genetics lab at Baylor College of Medicine in Houston, where the test is being conducted.

The test is still a rarity — it’s only been widely available for about 18 months. And the state of the art is still so primitive, relatively speaking, that there’s no guarantee it will find a definitive answer.

But for Wendell’s parents, Katie Sherman and John Strand, it’s a chance to solve a medical mystery that has baffled the experts from the start.

A medical netherworld

Wendell’s face lights up with a megawatt smile as he arrives for physical therapy at the university’s Amplatz Children’s Hospital. His bright blue eyes wander randomly — an effect of his nameless condition — but he understands more than he can express, his mother says.

He squeals with glee as Katie Larson, his therapist, balances him on a giant therapy ball. “Come on up,” she says, coaxing him to lift his head. “Go go, fight fight, go go go. You did it! Good job.”

Then she props him up while his mother reads him a book, and he visibly struggles to lift his hand to turn the page. “Another book?” Larson asks. Wendell clasps his fingers to signal the word “more.”

“He does make progress,” his mother says. “It’s just at a really glacial pace.”

Sherman said she’d always assumed that doctors “had a label for everything.” But that was before Wendell, her second son, was born in April 2011.

At first, Sherman and her husband, a high school teacher in Minneapolis, saw no reason to worry. Wendell was a hefty newborn, weighing in at more than 10 pounds.

The couple had no hesitation taking him and his older brother, Bjorn, for summer break to a one-room cabin with no running water near Silver Bay. “We were kind of removed from everything,” she said.

Then, at a family reunion when Wendell was 2 months old, they saw a baby boy who was just a month older.

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  • Photo gallery: Wendell's diagnosis leads to genome sequencing

    Sunday June 23, 2013

    At age 2, Wendell Strand can’t hold up his head or walk or talk -- and his doctors don’t...

  • Two-year-old Wendell Sherman-Strand worked on playing pat-a-cake with his mother, Katie Sherman-Strand, during physical therapy with pediatric therapist Katie Larson at University of Minnesota Medical Center.

  • Wendell at home during a session with a personal care assistant. “To be honest, I’m not expecting answers,” his mother says of the testing.

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