Shannon Palmatier has two sons with progressive familial intrahepatic cholestasis (PFIC), a rare hereditary disease in which children are unable to properly remove bile acids from their liver.
The disease is a genetic disorder that follows an autosomal recessive hereditary pattern and is linked to mutations from several genes, including ATP8B1, ABCB11 and ABCB4.
Disease symptoms and severity can vary greatly among this population making it difficult to diagnose quickly. Common early symptoms may include severe itching, jaundice, and not meeting growth milestones. As Palmatier explains in this video, excessive itching and an extended abdomen was observed in her first son and after extensive doctor appointments, a diagnosis was finally obtained.
To learn more about this and other inherited disorders, click here.