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Isaac L.

Benign Recurrent Intrahepatic Cholestasis (BRIC)


Isaac

Having a child with a rare genetic liver disease can be filled with so much fear, anxiety and uncertainty. Our son Isaac, 17, has genetic mutations on his ABCB11 gene. He was recently diagnosed with Benign Recurrent Intrahepatic Cholestasis (BRIC), which is part of the Progressive Familial Intrahepatic Cholestasis (PFIC) “family.” We had never heard of the disease and information is hard to find on it. There is no cure. However, we are sharing our journey with others to promote awareness.

Our journey began last spring when Isaac, then 16 year old son had unexplained symptoms and slightly elevated liver enzymes. He was so fatigued and losing weight, but no one could figure out why. We wouldn’t receive our answers for 5 more months as we watched our son’s condition deteriorate before our eyes.

Over those 5 months, he became jaundiced, was chronically fatigued, lost 20 pounds, and itched to the point he was scratching skin off of his feet and legs. Doctors tested him for every explainable liver disease, but testing continued to come back normal with the exception of elevated liver enzymes. His specialist suggested having him receive genetic testing to determine the cause of his symptoms, which we agreed to do.

As we waited for those results, it was determined through bloodwork that his blood was not clotting properly. They suspected liver failure. He received several shots of vitamin K and we were sent to a regional children’s hospital for a liver biopsy. The results showed cholestasis, but no liver damage.

We knew something wasn’t right with our teenager. He continued becoming more and more jaundice. Had lost 20 pounds. He itched profusely. He needed sleep, but the itching interfered with his quality of life. Doctors prescribed medication, but nothing seemed to help.

Several weeks later, we finally got the results back from the genetic testing which confirmed he has BRIC.

Since then, his episode has come full circle and he’s currently in remission. BRIC is a disease that comes and goes, lasting several weeks to months, without any known trigger. Clinical trials are happening now with medicine that could help alleviate symptoms for those suffering from PFIC/BRIC. We want to raise awareness about this disease since it’s rare, has no cure, but impacted and changed our family’s life.


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