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Mystery illness leads boy’s family on lengthy quest for genetic answers that ends ‘after a lucky accident’

| | October 24, 2019

When Alex Yiu was born 14 years ago, he seemed like a typical healthy kid. But when he turned 2, his mother, Caroline Cheung-Yiu, started noticing things that were amiss — first little problems, then much bigger ones.

As Alex’s health slowly deteriorated, Caroline and her husband, Bandy Yiu, set off on what has become known among families like theirs as a “diagnostic odyssey.” This ended up being a 12-year quest that ended after a lucky accident.

Indeed, last year when [scientist Keri] Ramsey by happenstance ran [Alex’s DNA] analysis again, one of Alex’s DNA variants (called IRF2BPL) matched up with disease in the database.

“I looked over at the disorder that was associated with this gene and it fit Alex’s set of symptoms,” Ramsey says.

Related article:  The high-risk world of rare genetic diseases

It turns out that a freshly published research paper had been cataloged in the genetics database and had drawn a link between Alex’s symptoms and a particular mutation that he carried.

The news got back quickly to Caroline Cheung-Yiu and her husband.

“We got a call from our neurologist and they said, ‘We found it,’ ” she says. And suddenly — unexpectedly — their diagnostic odyssey had come to an end.

Read full, original post: A Boy’s Mysterious Illness Leads His Family On A Diagnostic Odyssey

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