Kealey-Shay Spolijarevic has progressive familial intrahepatic cholestasis (PFIC), a rare hereditary disease in which an individual is unable to properly remove bile acids from their liver. She describes an overall of her diagnostic journey.
PFIC, according to the NIH, is estimated to affect between one in every 50,000 to 100,000 children born worldwide and causes progressive, life-threatening liver disease.
The most prominent and problematic ongoing manifestation of PFIC is pruritus, which often results in a severely diminished quality of life. In many cases, PFIC leads to cirrhosis and liver failure within the first 10 years of life, and nearly all individuals with PFIC will require treatment before age 30. Three alternative gene defects have been identified that correlate to three separate PFIC subtypes known as PFIC1, PFIC2, and PFIC3.
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