Looking after a loved one with Progressive Familial Intrahepatic Cholestasis: Francesca’s Story

A few months after Eva Luna was born, her mother Francesca realised something wasn’t quite right. Within the span of a few days, their world was turned upside down when her daughter was diagnosed with a rare liver disease, known as Progressive Familial Intrahepatic Cholestasis (PFIC). Yet despite this, Francesca describes her daughter as her “miracle”, with Eva Luna, now five, thriving, dancing, and recently starting school.

In the first weeks after Eva Luna was born, everything was fine. “And then when she turned two and half months old, something changed in the color of her eyes and her skin, and she had a lot of diarrhoea.” This prompted a trip to the Emergency Department, where within two days the doctors spoke the words that would change Eva Luna’s life forever; “I think it’s Progressive Familial Intrahepatic Cholestasis.”

Francesca describes that after the initial shock of her daughter’s diagnosis, she fell into a period of depression, and she couldn’t take care of Eva Luna for the first few months following the diagnosis. During this time, her husband Simone kept their family going and kept Eva Luna smiling.

PFIC is a rare liver disease that can pose significant challenges, particularly in young children. This spectrum of genetic disorders causes a build-up of bile in the liver. If left untreated, PFIC can lead to end-stage liver failure and necessitate a liver transplant.

Pruritus (intolerable itching) is the most burdensome symptom of PFIC and, in some cases, can be so severe that it leads to skin mutilation, loss of sleep, irritability, poor attention, and impaired school performance. This was the case for Eva Luna, with Francesca stating that the itching is “the most important and difficult symptom”. She also added that “when she [Eva Luna] was growing, her itch was growing. Her itch was eating away at our life, like a monster.”

Following a successful surgery, known as an internal biliary diversion, Eva Luna’s itch became more manageable, and this was life changing. “She now has the chance to go to school, to dance, and do everything.”

Eva Luna’s diagnosis and treatment had a life-changing impact on the whole family, and due to this Francesca highlights, that “it was very important to me to be in touch with the other mothers around the world. It gave me a lot of hope, because I saw their children grow, go to school and even have a normal life.” The association PFIC Italia Network was created for this reason, to ensure that families experiencing rare liver disease do not feel alone.

“I promised to myself that since something like that has happened to us, I have to use all my energy to help other mothers not feel so alone.” This message is more important than ever as we mark PIFC Awareness Day on October 5th, led by the PFIC Network, and continue raising awareness beyond. To learn more about PFIC, visit the PFIC Network’s website here: https://www.pfic.org and here: https://pficitalia.org/