Rare liver disease progressive familial intrahepatic cholestasis (PFIC) caused pruritus, or itching, so severe it affected all aspects of this family’s life, including their ability to function at school and work, mental health, and relationships. Mom Claire shares what life was really like with PFIC. Follow Us on Social:
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Eleanor was an infant when she was admitted to the hospital for risk of internal bleeding. An abnormal liver function test suggested acute liver failure, and doctors feared she only had 9 days to live without an organ transplant. After additional testing, liver specialists diagnosed her with the rare and progressive liver disease PFIC, or progressive familial intrahepatic cholestasis.
PFIC is characterized by severe jaundice in babies, pruritus, or severe itching, and scratching. The liver is unable to excrete bile acids due to a genetic defect, so they accumulate to high levels in the liver and bloodstream.
Because PFIC is a rare liver disease, Claire advocated for her daughter’s health by learning all she could about the condition. She also turned to online social media forums and the UK-based Children’s Liver Disease Foundation (CLDF) for support and answers to questions about the disease.
“I looked at my daughter,” Claire says, “and all I could see was liver disease.” Eleanor’s early years were defined by severe itching, or pruritus, that started in the early evening and continued throughout the night. The family was deprived of sleep, which affected their ability to function at school and work, their mental health, and Claire’s relationship with her husband.
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