According to a story from delmarvanow.com, a nine year old boy named Trey Kearns has progressive familial intrahepatic cholestasis (PFIC) a rare disease that affects the liver. The symptom that plagued Trey more than any other was the constant itching, which couldn’t be relieved by scratching. Since then, the boy has been treated so that the itching has stopped and is now on a wait list for a liver transplant. After seeing and living through the challenges firsthand, Trey’s mom Tara saw that PFIC patients needed support and stepping into leadership at The PFIC Network.
About Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic cholestasis (PFIC) are a group of hereditary diseases in which the flow of bile is affected. There are several different types of PFIC which are linked to different genetic mutations. These mutations generally cause a defect affecting biliary epithelial transporters. The symptoms of these diseases begin to appear in childhood, but some patients are not diagnosed until years later. These symptoms include lack of normal bile flow, cirrhosis, failure to thrive, jaundice, fat malabsorption, and severe itching. PFIC can eventually lead to complications such as osteopenia, a condition of lowered mineral density in bones. Treatment is generally supportive and symptomatic. Medications used to relieve symptoms include ursodeoxycholic acid, naloxone, and rifampin. Other approaches include certain surgical procedures and vitamin supplementation. If liver function begins to decline, a transplant may be necessary. To learn more about PFIC, click here.
A Rare Patient Community
Tara says that goal of The PFIC Network is the development of a community. The organization is committed to improving the lives of patients and their families. The PFIC Network helps people affected by the disease to get connected and share advice. It also provides educational materials and supports research initiatives related to the illness.
Trey’s parents have become PFIC experts, helping him with medication and making sure he gets plenty of rest after playing the sports that he loves. He was first diagnosed when he was just two years old. Tara was motivated to help lead The PFIC Network when she realized how difficult it was to find information about the disease. The diagnosis also felt isolating and it meant a lot to her when she finally got in touch with other families impacted by the illness.