Printable Link to article “Treatment Offers Hope for One Regional Family That has Suffered from a Rare Genetic Disease for Generations” published March 29, 2020.
Thomas Deater went off to fight the Civil War with ulcers on his feet. Over the next seven generations, a few dozen family members would go on to develop similar symptoms, including limb ulcers, numbness, tingling, nerve pain, muscle weakness, bone infections. Today, a map of the family — from the Stull area in Noxen Twp. — suggests that this clan has a rare genetic mutation that causes hereditary sensory and autonomic neuropathy type 1.
Scientists at Massachusetts General Hospital began showing up at the Deater family’s legendary Pennsylvania reunions in 1986. By then, Larry Deater, who had spent about a dozen years with severe neuropathy, limb weakness and severe skin ulcerations that would lead to amputation of many digits on his hands and feet, had befriended Mass General neurologist Dr. Robert Brown.
Brown and his colleagues set up shop in a camper at the reunion, held in a wooded area next to a creek in the Back Mountain area, and began drawing blood.
The collection paid off. They identified the genetic culprit