Emily Ventura has never met in-person another person living with progressive familial intrahepatic cholestasis (PFIC), her daughter’s life-threatening ultra-rare genetic disease. That will change on June 21st when Emily and her seven-year-old daughter, Cedar, travel to Cincinnati for the first PFIC Network Family Conference.
Emily is an ICU nurse from Lexington, Kentucky and is also co-leader of PFIC Network, an advocacy organization working to support other families affected by this devastating disease. She regularly counsels and supports parents and patients diagnosed with PFIC and works to connect them with a community of supporters that can give them hope for a better future. She has led the effort to plan for this historic first-time opportunity for families from around the world affected by PFIC to meet and share information and support. The two-day conference will include discussions with families, providers, researchers and advocates.
Children born with PFIC (estimated to be about one in every 50,000-100,000 born children worldwide) have a genetic mutation that makes it difficult for liver cells to transport bile meant to digest dietary fats and carry away waste. This causes an accumulation of bile acid in the liver and increases risk of cirrhosis or liver failure. It also leads to a severe all-over itch known as pruritus that it is the reason for almost a third of PFIC liver transplants. There are no approved therapies for PFIC and most patients resort to surgical interventions, including liver transplant. Many patients will experience end stage liver disease by the age of 10.
More information on progressive familial intrahepatic cholestasis can be found at PFIC.org