By JoNel Aleccia
updated 11/17/2011 8:23:39 AM ET
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.
The condition is one of two previously unknown diseases identified through the UDP effort in its first two years. During that time, UPD sleuths also reached diagnoses on at least 39 other patients whose conditions had previously baffled doctors, according to a pilot project review published this fall. That included rare or ultra-rare diseases detected in 28 patients and nine common disorders.
There’s certainly no shortage of people with diseases that elude diagnosis, Gahl said. In June, the program temporarily stopped accepting applications to allow him and his swamped colleagues to catch their breath.
“We’ve seen so many incredible cases that we really don’t have time to follow up on all of our clues for them,” he said.
Still, starting Dec. 1, Gahl plans to open the floodgates again, mostly because he knows that so many patients like Louise Benge are anxious for answers.