Mystery Disease Clinic – A Kentucky woman’s mystery disease has finally been diagnosed at a special clinic. Thanks to medical detectives, Louise Benge now knows why her legs feel like they’ve turned to stone. The 57-year-old woman has suffered a 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 it is no longer a mystery, 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.
The condition is one of two previously unknown conditions 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 conditions detected in 28 patients and nine common disorders.
By early this year, the medical detectives had fielded 4,700 inquiries, reviewed 1,700 medical records, rejected 100 cases and accepted 400, with the rest under review, according to a summary by Dr. William A. Gahl, who heads the program, based in Bethesda, Md.
The program also dramatically expanded knowledge and descriptions of several other disorders in patients who came to what’s now regarded as the clinic of last resort.
Figuring out answers for patients desperate for diagnoses is the goal of the clinic that started with a budget of $280,000 in 2008 and grew to $3.5 million for 2010 to 2012.