Anna’s Story with PFIC 2
Anna’s Story with PFIC 2
Three weeks after Anna was born her skin became yellow. Our pediatrician sent her blood for analysis. Her results were not normal, so he told us to consult Prof. Richard Thompson at Kings College Hospital in London. At King’s she had a liver biopsy and genetic test done. After 2 months we got the diagnosis – it was PFIC type 2.
She started taking medicines: Ursofalk, vitamins A, D, E, K. Her blood test results improved, but still were not normal. Her jaundice disappeared, slowly. The symptoms worsened after she turned one. In the beginning she suffered from itching every few days. Rifampin helps the itching temporarily. Then she scratched herself more and more. Nights were worse than days, she woke up every night screaming and it was impossible to calm her down. The hardest thing was not being able to help her. When she was one and half years old we managed to get her into EAP Albireo.
She responded well to that medicine but she still suffers from itching a bit. We really hope at the medicine that she’s taking will allow her to live a normal, happy life. We believe that someday new genetic therapy will be developed and PFIC will be completely curable.