Health Watch: Disease Detectives

STANFORD, Calif. -- There are some patients with medical symptoms so rare that doctors are left baffled. Misdiagnosis with no real options for help often follow. But now, the National Institute of Health has formed an elite team of geneticists and specialists to solve these medical mysteries. So far, thirty-one new syndromes have been identified by the undiagnosed diseases network.

Brothers Carson and Chase cannot speak or walk on their own. But that doesn't stop their bright minds from exploring the world.

"Carson and Chase have an ultra-rare mitochondrial condition called Mepan Syndrome. And, there's only thirteen patients in the world that are known to have this condition right now," said Danny Miller, Carson and Chase's father.

For parents, Danny and Nicki Miller, getting that diagnosis was half the battle. The boys, born two years apart, were each identified as having cerebral palsy.

"It's almost impossible for two brothers to come down with cerebral palsy," continued Danny.

Danny then discovered The Undiagnosed Diseases Network. It's a nationwide team of specialists that utilized both medical and detective know-how to crack rare health conditions. So far, one hundred thirty cases have been solved.

Jon Bernstein, MD, Stanford Center for Undiagnosed Diseases, said, "They don't really know what it is that they're fighting or what they're up against. It's like the unknown enemy so to speak."

Carson and Chase went to Stanford for help where one of the network's twelves clinics are located. To solve the case, the boys needed ...

..."whole genome sequencing which is, you know, a complete analysis of the person's entire genome," explained Danny.

"Ultimately our genomes are the blueprint for our body and they do explain a lot about our health," shared Dr. Bernstein.

While the Millers are just at the beginning of their journey, receiving a diagnosis is a huge victory.

"The Undiagnosed Diseases Program is a critical component for finding answers. So at some point we can find treatments and therapies that can actually improve their condition," said Danny.

Dr. Bernstein said, "It is really a special effort."

The Undiagnosed Diseases Network's other clinic locations include Duke, Vanderbilt, and Harvard. This is a federally funded program, so all care received by patients is completely free of charge.