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Pine Brook boy's rare disease ID'd through contest

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Tuesday, November 20, 2012

MONTVILLE — Adam Foye, 11, knows his enemy. Finally.

Muscle weakness has plagued the Pine Brook sixth-grader all his life, keeping him off playgrounds and confined to a motorized scooter at school. Test after test revealed nothing to mystified doctors and his worried parents.

That changed two weeks ago. Researchers revealed a mutation in a protein-producing gene called titin at the end of a Boston Children's Hospital-sponsored contest.

And though it's just a start — doctors still aren't sure of the best way to treat Adam — the news brought some relief to his family.

"Now we have a name for it," his mother, Sarah, said. "It was always sort of this mystery."

The mystery began soon after Adam, a straight-A student and video game fan, was born.

He was slow to achieve motor milestones. Picking up his head. Rolling over. Walking. It all came a little later for Adam, who also suffers from hearing loss due to an unrelated genetic mutation and needs a machine to help him breath at night.

Eventually tests showed Adam had centronuclear myopathy. But what they failed to explain was why. Nobody in his family appears to suffer from muscle weakness, according to a statement from the hospital.

So for years doctors tested to see which of the 13 genetic mutations then associated with the disease Adam had.

"Each time it's like, 'This is going to be it. This is going to be our answer,'" Sarah Foye said.

Adam2.jpg Adam Foye poses with his parents for a family picture. Courtesy of the Foye family

But every test came back negative.

So Dr. Alan Beggs of Boston Children's Hospital in July entered Adam and two other patients into the CLARITY Challenge. (CLARITY is an acronym for Children's Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information.)

The contest pitted about two dozen teams of researchers from across the globe — America, China, Sweden, Germany — against one another for $25,000.

The winners best identified the "best methods and practices for the analysis, interpretation and reporting of individuals' DNA sequence data, to provide the most meaningful results to clinicians, patients and families," according to the hospital.

Research took four months. Three teams ended up splitting the prize. Virtually all of them contributed to helping identify titin, which is essentially producing a bad protein, as the problem's root.

"It really was a new discovery," Foye said. "So the fact is that nobody had identified this mutation as being associated with centronuclear myopathy. It's not like somebody was close or not close. They couldn't have found the answer because it wasn't known."

Beggs, the co-organizer and director of the Manton Center for Orphan Disease Research at the hospital, said even if titin had been suspected as the issue, it would have taken almost a year to individually sequence it in Adam's family due to its huge size.

He also said he plans to head a research project to model the titin defect in zebrafish, which he hopes will lead to large-scale testing of drugs that could correct it.

Beggs called Foye, an occupational therapist, and her husband, a doctor, in mid-October to tell them the good news, which they had to promise to keep a secret until the Nov. 7 unveiling.

"It was hard," said Foye, who flew out to San Francisco with her sister for the announcement.

Aside from looking forward to a cure, Foye said the family would try to connect with other families dealing with Adam's genetic mutation.

"There are a lot of different people affected by this, from severe to mild," she said. "We're always asking ourselves, 'What's going to be the future for Adam."

Right now, Adam's future is that of many kids his age, despite his illness. He loves "Spongebob Squarepants." He plays the video game Minecraft with his friends. He swims. "He feels weightless in the water," Foye said.

The disease doesn't seem to weighing down Adam's spirit much, either, his mother said.

"On some days, he just doesn't feel good or have the strength to go to school all day ... and he says, 'Oh, mom. It's just the titin,'" Foye said.

Source: New Jersey
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