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Searching for a diagnosis: a network of doctors tries to solve medical mysteries

AndyPR

Senior Member
Messages
2,516
Location
Guiding the lifeboats to safer waters.
Thought this was an interesting read. As far as I can see though, ME would not qualify - https://undiagnosed.hms.harvard.edu/

WHITTIER, Calif. — Lynn Whittaker stood in the hallway of her home looking at the framed photos on the wall. In one, her son Andrew is playing high school water polo. In another, he’s holding a trombone.

The images show no hint of his life today: the seizures that leave him temporarily paralyzed, the weakness that makes him fall over, his labored speech, his scrambled thoughts. Andrew, 28, can no longer feed himself or walk on his own. The past nine years have been a blur of doctor appointments, hospital visits, and medical tests that have failed to produce answers.

“You name it, he doesn’t have it,” his mother said.

Andrew has never had a clear diagnosis. He and his family are in a torturous state of suspense, hanging their hopes on every new exam and evaluation.

Recently, they have sought help from the Undiagnosed Diseases Network, a federally funded coalition of universities, clinicians, hospitals, and researchers dedicated to solving the nation’s toughest medical mysteries. The doctors and scientists in the network harness advances in genetic science to identify rare, sometimes unknown, illnesses.
https://www.statnews.com/2017/04/20/rare-diseases-doctors/
 

Murph

:)
Messages
1,799
Sounds like how ME/CFS patients would've felt 20 years ago. While we don't have much knowledge at least we have a label for what ails us and a website or two we can visit to learn about it. Having a disease nobobdy else has your chance of getting research funding is presumably even worse.

"Even with the best technology and the finest brains at work, progress is slow. Since its launch, the network has received nearly 1,400 applications on behalf of patients. It has accepted 545 for review so far. Just 74 of the cases have been diagnosed, including 11 at UCLA. Andrew Whittaker’s case is among many in progress.

It’s like battling “an unknown enemy,” said Dr. Euan Ashley, one of the principal investigators of the network’s Stanford University site. “That is a particular form of torment that other patients don’t have.”