Mystery disease diagnosed at clinic of last resort from MSNBC

Thanks to the medical detectives at the nation’s first mystery disease clinic, Louise Benge now knows why her legs feel like they’ve turned to stone.

The 57-year-old Kentucky woman finally has an explanation for the strange disorder that began crippling her — and her four siblings — nearly three decades ago, making it hard to walk, first a few blocks, then any distance at all.

“Oh, goodness, it’s very hurtful,” said Benge, a retired food stamp clerk from Brodhead, Ky. “Our calves and legs just get as hard as rocks. Sometimes, I just have to stop, period.”

There’s still no treatment or cure for the problem, which also causes severe pain in her hands, Benge acknowledges. But at least there’s a name for the first completely new ailment discovered through the fledgling Undiagnosed Diseases Program begun in 2008 by the National Institutes of Health.

It’s ACDC, or arterial calcification due to deficiency of the protein CD73. Through extensive testing, scientists discovered a genetic glitch that allows bone-like calcium deposits to build up in the blood vessels of victims’ hands and lower limbs. They published their findings earlier this year in the New England Journal of Medicine.

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