The Commonwealth Beat with Laura LeBeau - Episode 92 - 09/14/2025

     It was in 2021 that a 17-year old Amish girl came to the Children's Hospital of Philadelphia, suffering from fatigue, a severe headache and weakness on one side of her body.  Shortly after her arrival, she also developed brain inflammation that became so severe, physicians had to remove part of her skull to relieve the pressure.  Her team of doctors tried everything to treat her, including high doses of steroids to alleviate the brain swelling, but nothing was helping.   That's when Dr. Whitney Reid of CHOP's Department of Allergy and Immunology requested that her DNA be sequenced.  
          And that was the key that unlocked the mystery of her illness:  she had Complement Factor I Deficiency, something so rare, it affects fewer than one in a million people worldwide.  But the physicians made a second remarkable finding.  They discovered that the ultra-rare genetic disorder was affecting the Amish 4500 times more than non-Amish people.  
          We take a look at this rare disease, and a few others that affect the Amish community with Dr. Whitney Reid, because of something called the "Founder's Effect."