It’s been over a year since I started writing this column about my family’s experience with progressive familial intrahepatic cholestasis (PFIC), and it’s been…
Itching and Scratching — Sophie Bourton
Sophie Bourton was born in Manchester, England, and now lives in rural Herefordshire with her young family. Sophie is a symptomatic carrier for progressive familial intrahepatic cholestasis and her daughter, Eva, has the disease. Sophie has worked for over 10 years advocating and fundraising for British wildlife before her daughter’s diagnosis and since then has been increasingly focusing on advocacy for rare liver disease. She is passionate about the benefits of the outdoors for mental and physical well-being, and in her spare time she’ll be found up to her knees in mud at her children’s forest school.
The ripples of progressive familial intrahepatic cholestasis (PFIC) continue to spread throughout our family, as branches of the family tree are tested to see if they are carriers of the disease. PFIC is an autosomal recessive condition, so carriers with type 3 won’t suffer from the disease unless…
