October 5 is PFIC Awareness Day. Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition caused by a mutation in a gene affecting the liver’s ability to drain bile. Today, to recognize and support the PFIC community, Lisa is sharing her daughter Cadence’s story. This story is told from Lisa’s point of view and reflects her family’s personal and unique experience.
My daughter Cadence is 13 years old with PFIC type 2. Her journey started when she was five months old and we discovered a hand-sized bruise on her back. Her pediatrician sent us for blood work to determine the mysterious bruising. Her doctor called me at 10pm that night and asked me to bring Cadence in first thing in the morning. It turned out the bruise was due to her blood not clotting and we were sent to our local children’s hospital that involved a four-night stay. The doctors figured out that she was extremely low in vitamin K.
After being released is when all the testing began. The doctors were stumped! First, they gave a diagnosis of Cystic Fibrosis (even though the test was negative), and eventually we were referred to a Gastroenterologist, approximately two years later, as Cadence developed uncontrollable itching. This led to her bloodwork being sent to Cincinnati and the test came back positive for PFIC type 2.
Having a diagnosis provided some relief. It was devastating because it was so rare – Cadence was the first PFIC patient at our hospital. The biggest problem was that itch, my poor kid could not sleep through the night! She would wake up two to three times a night, we both had bags under our eyes. Cadence was always the smallest kid in the class; she was the same size in clothes for 3 years! I want to say that we tried six medications to help with the itch, none helped, not even a little bit. I would come home from work, and she would rip her socks off and just itch until she bled, I had even caught her with her feet in her mouth using her teeth! We couldn’t take it any longer, something had to be done – this was no way for her to liver.
Then when she was five, we brought up the conversation of liver transplant with her doctor. Her quality of life was so bad – she didn’t want to play with her friends, and she would just sit, itch, and cry. We were then sent for a transplant assessment, and four days tests concluded that her little liver was basically healthy. I just thought to myself, how can we transplant a perfectly healthy liver because of an itch? The surgeon gave us another option, a diversion that would divert the bile out through the colon. So, after a five-hour surgery and a six-week recovery, she was finally itch free! Her growth was still behind a bit, but she was finally sleeping!
Cadence’s severe itching stayed away until about five years ago, when she developed the severe itch all over again, every day and night. PFIC is an ongoing diagnosis that Cadence is faced with. The journey has been expensive and uncertain – today, we consider the option of transplantation (not knowing if Cadence will need a second transplant at some point), and wait for more drug coverage, more treatment options, and more answers.
A note from Liver Canada
A diagnosis of a rare liver disease like PFIC can change the path of your life, but you are not alone. By raising awareness and supporting lifesaving research, we can make life brighter for children like Cadence and so many others living with rare liver diseases. At Liver Canada, we’re shining a light on these stories to bring people together, support patients, and advocate for better liver health across the country.
