Clinic for Special Children DDX3X Family Day

Dr. Kevin Strauss, medical director for the Clinic for Special Children, talks about the complexity of the hippocampus at the clinic's Family Day for families of children with the DDX3X genetic mutation.

A Lancaster County doctor's account of how genetic medicine helped an Amish family has caught the attention of the national scientific community.

Dr. Kevin A. Strauss, medical director of the Strasburg-based Clinic for Special Children, used pseudonyms to tell Scientific American the story of Esther, who was born with Omenn syndrome, a rare and lethal condition.

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Fourteen years earlier, Strauss wrote, Esther's sister Mary "lived out a short life of misery," dying of pneumonia before a specific diagnosis could be confirmed and leaving "a shattered family with more than $400,000 of hospital bills."

But, Strauss wrote, for Esther the story was different. Staff at the clinic were able to quickly diagnose her condition, determine it matched Mary's and identify another sister who provided bone marrow for a lifesaving transplant. 

"Esther is now eight years old and healthy. In May 2013 her baby sister Annie arrived. Using blood from the umbilical cord, we diagnosed Annie with Omenn syndrome at four hours of age for a cost of less than $50," he wrote. "Annie was successfully transplanted in the first month of life and has thrived ever since."

"These three Amish sisters give us a peek into the future of genomics, which has the power to make the healing arts preemptive rather than reactive," Strauss concluded. "For this family, help did not come in the form of new knowledge but from choices made about how to use what we know."

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