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

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

“I remember thinking, ‘Wow, what a difference one month makes,’ ” Sherman said. The other baby reached out his arms and kicked his legs, while Wendell curled up in a fetal position. “There were moments up there when I was like, well, shouldn’t he be grabbing things? He just didn’t have the strength to hold anything.”

By his six-month checkup, her fears were confirmed. Wendell couldn’t hold his head up when he was pulled to a sitting position. The doctor referred him to a specialist, who referred him to a neurologist. At that point, Sherman said, “I just broke down crying.”

A battery of tests, from MRIs of his brain and spine to a biopsy of his thigh muscle, turned up nothing.

For the family, there were only more questions. Would he grow out of it? Learn to talk? Learn to walk?

“Nobody knew,” his mother said. “You’re in this netherworld of just not knowing how to think.”

That isn’t unusual when it comes to children with developmental delays, said Dr. Peter Karachunski, Wendell’s physician and a pediatric neurologist at the university. “Sometimes it’s easy to answer the question, and sometimes it’s quite difficult.”

Wendell’s case turned out to be particularly challenging, he said. Unlike some conditions that can be traced to a single genetic defect, the little boy’s symptoms could be caused by many. “So we’re kind of stuck right now,” Karachunski said.

That’s why he suggested the gene sequencing test.

Detective work

The test concentrates on about 3 percent of the human genome where “most genetic diseases and most mutations tend to fall,” says Matt Bower, a genetic counselor at the university. That area is known as the exome, he said. “It’s the most likely place to find mutations.”

The test relies on massive computer power to winnow down the suspects, combing through millions of snippets of DNA. “It’s like when you’re looking for a murder suspect,” Bower said, “you’re looking at people with a criminal history vs. just going door to door.”

The whole process takes about 15 weeks and costs about $7,000, said Eng, who oversees Baylor’s medical genetics lab. One reason it takes so long, she said, is that there’s a lot of interpretation. The results are rarely clear-cut — they may turn up genetic variations that have nothing to do with Wendell’s condition. “We have to determine which results are clinically relevant and which ones are not,” she said. “It becomes almost like a puzzle.”

So far, Baylor has run about 1,100 of these tests, with a success rate of 26 percent, she said, meaning only one in four cases comes up with a likely diagnosis.

Even then, the answer only rarely the points the way to a new treatment, she said. More often, it just puts a name to the condition. But that, she said, “is very important to families, and it’s important for physicians, too.” So far, only about a dozen patients at the University of Minnesota have had the test, according to Bower.

Wendell’s parents know there’s a good chance they still won’t have an answer when the test is done. In some ways, Sherman said, “it really doesn’t matter.” Her son is getting therapy to strengthen his muscles and help him communicate, and the family is adapting: they’ve started an online fundraiser, called “Wheels for Wendell,” to buy a handicapped-accessible van.

“In an ideal world, I guess I would love an ultimate prognosis,” Sherman said. “To be honest, I’m not expecting answers,” she added. “Whatever they do find, if they find anything, will be very rare.”

 

Maura Lerner • 612-673-7384

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