Yolanda’s Story with BRIC

Yolanda’s Story with BRIC

My beautiful little girl Yolanda has a very rare liver condition called Benign Recurrent Intrahepatic Cholestasis (BRIC) which is a version of condition called Progressive Familial Intrahepatic Cholestasis (PFIC). The difference between BRIC and PFIC is that BRIC comes and goes and PFIC often progresses quickly with time.

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Yolanda has now been mostly symptom free for three years. However from birth until around 7 months old, life was very difficult for her. She was constantly itchy and very unsettled. The itch got worse to the point that it was unbearable. She could not sleep, could barely eat and was in constant pain. It was awful to see our baby in such extreme discomfort. At first we thought it may be an allergy but once that was ruled out, at five months old, liver function tests were done. All came back clear! However, one blood test for ‘Bile Salts’ took a few extra days to come back and the news was not good. Yolanda’s bile salts were more than 200 times the normal level!! This was a clear marker of liver disease, most likely PFIC. Yolanda was admitted to The Children’s Hospital at Westmead Sydney for more tests including a liver biopsy. All tests were inconclusive for a diagnosis but by this time her bile salts were 500 times the normal level and she was in extreme pain from the horrendous itch.

Being so rare, there was very little information available about PFIC, resources were limited and it was a confusing time. While it looked to be PFIC, we had to wait months for genetic testing – which finally confirmed she has PFIC 2. ( with a presentation of BRIC 2). Three years ago there were no drugs that treat PFIC/BRIC. However there were a few drugs that can sometimes help stop the itch. She was put on Urso for a few weeks with no luck, however, an alternative- Rifampicin was tried and the itch decreased to a point where Yolanda could function without pain. After some months we stopped the medication and she remained itch free. While Rifampcin can help PFIC it is not an ideal drug as it it processed though the liver. We are still unsure if the medication stopped the attack or it was an episode of BRIC that ended on its own The itch still comes and goes but it’s nothing like those awful, horrible months where she was unbearable itchy.

yolanda's story

The symptoms could come back at any time. This keeps me focused on researching treatments and raising awareness of PFIC. In last three years I have advocated passionately for two trial drugs that can directly help our PFIC children and even stop the need for surgery and transplant in some cases. Seeing my little baby is so much pain and knowing it could come back at any time has kept me driven to find safe and effective treatment for PFIC. Our Children deserve freedom form these awful symptoms.