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The Tale of Two Patients Tackling a Mystery Disease [Video]

Two women share their journey--from desperation to hope--as part of the NIH's undiagnosed diseases program

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One physician after another had failed to diagnose what was wrong with Louise Benge. She had suffered for years from pain and hardening of tissue in her calves that made walking painful. William A. Gahl, head of the National Institute of Health's Undiagnosed Diseases Program, eventually ended up with Benge as a patient, along with her sister, Paula Allen, who also suffers from the condition. Gahl went on to discover a novel genetic cause and a possible treatment. (Read more about Gahl's work in a Q&A "The Medical Sleuth" in November 2011's Scientific American.)

In the following video clips, both Benge (in red) and Allen (in blue) recount the personal saga of coping with a mystery disease.]

 
 
 

 

Videos courtesy of NIH/National Human Genome Research Institute

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