Championing hope: Francesca’s fight for PFIC awareness
Francesca’s world was turned upside down when her daughter, Eva Luna, was diagnosed with a genetic liver disease months after birth. Without liver transplant only around 50% of children with PFIC survive to the age of 10.1 Francesca feared the worst for her daughter’s future, and the toll this would take on her son, Ernesto. Now five, Eva Luna is thriving and loving life, and Francesca is the driving force behind a flourishing patient support group that is a lifeline for families around the globe.
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Shortly after Eva Luna was born, Francesca realised something wasn’t quite right. “I noticed her stools didn’t have the normal colour you would expect. She would cry a lot in the evenings and try to scratch her eyes. Then one day Eva Luna’s eyes turned yellow,” she says.
But the fear of her child being sick led her to delay taking her to the hospital for almost two weeks.
Within two days the doctors had identified that Eva Luna had a type of progressive familial intrahepatic cholestasis (PFIC) but didn’t openly discuss it with Francesca at the time. PFIC is a group of genetic disorders that cause a build-up of bile, a digestive fluid, in the liver and can be particularly aggressive in babies and infants.2,3 This bile build-up typically causes progressive liver damage with the eventual need for liver transplantation.
The diagnosis needed to be confirmed with genetic testing, and Francesca had to endure almost a month of not knowing what the future of her daughter would be while awaiting the results. Anxious to find out what this meant for Eva Luna, Francesca Googled the disease she had never heard of. When the doctors finally confirmed that Eva Luna had PFIC type 1, Francesca broke down. “I had read online about this specific type of PFIC. It was very bleak. I thought she would need to have a liver transplant straight away,” she remembers.
“I wanted to understand more about my daughter’s diagnosis but as I was visibly distressed and emotional at the time, the doctors decided not to give me any more information.”
– Francesca
For the next six months, Francesca fell into a deep depression. “I was trying to get my head around her diagnosis. I felt guilty and I was concerned about the toll this would take on my older son Ernesto and incredibly worried about Eva Luna’s future.”
It was only when she connected with the families of other children with PFIC through Facebook that Francesca could see a future. “Some of the mothers I was talking to online shared photos of their beautiful children thriving with PFIC. It helped me to believe that it was possible to give Eva Luna a good life despite her disease.”
This hope and support ignited a resolve in Francesca to find out as much as she possibly could about the disease and their options. She made the decision to delay transplantation for as long as possible to give Eva Luna the best chance of a normal life. But this has meant having to live with one of the most distressing symptoms of PFIC—a relentless, severe itch.
“We want to delay liver transplantation as much as possible. But while we are waiting Eva Luna is living with a constant itch.”
– Francesca
“The itch keeps her up at night. Sometimes she can’t even sleep for more than two hours a day. Her brother has been suffering too. He used to fall asleep during class because Eva Luna’s crying would keep him up during the night,” Francesca says. They eventually had to move house so that the children’s rooms were further apart, and Ernesto could sleep better.
Francesca has come up with many tricks to keep Eva Luna from itching, like sewing her socks onto her trousers so she can’t lift the trousers and scratch herself. They also sleep in a very cold room, which helps relieve her constant itching.
Eva Luna’s disease also meant Francesca had to re-evaluate her career as a director working in a centre for refugees. “We had a lot of hospital appointments to go to and I had to manage Eva Luna’s itch day and night,” Francesca says. “I had to be constantly in hospital until Eva Luna was two and a half years old. So, I didn’t have the time for a senior position any more,” she adds. Not all regions in Italy have specialist centres for PFIC, so some families have to travel a long distance to get treatment, which may cause them financial difficulties.
Despite all the ongoing challenges, Francesca and her family try to provide as “normal” a life as possible for Eva Luna. “Of course, PFIC still dictates the day, but we try to include Eva Luna in as many activities as possible.”
With the help of an alternative procedure to liver transplantation, called internal biliary diversion, which has reduced her number of appointments, and with the right daily medication and adjustments to ease her itching, Eva Luna has grown up to be a happy child full of life her mother says. “She loves dancing and spending time with her friends,” she adds. “I admire how independent she is for her age. I prepare her medications, but she knows how to take them by herself. She is very aware about her condition and she’s happy to talk about it and educate others about how she feels.”
“I often talk to Eva Luna about the possibility of her having a liver transplant down the line. I want to be honest with her and prepare her, but I hope that this will happen at a time when she will be able to clearly communicate what she wants and understand better what is best for her,” says Francesca.
Francesca feels she owes everything to the families who gave her hope and support in her darkest hours. Alongside caring for her two children and working full-time in the refugee centre, she dedicates her time to the PFIC Italia Network, which she set up in collaboration with the US-based PFIC Network in 2020. She is on a mission to educate, enlighten and support other families.
“Through our testimonies we are able to show that living with PFIC is hard, but it is possible. That’s one of the first things a parent wants to know—that there is a future for their child after getting a PFIC diagnosis.”
– Francesca
Knowledge is extremely important, she says. “We encourage parents to ask lots of questions and be informed. Our questions should be respected, and we should be given time to understand everything.”
Beyond raising awareness and educating on PFIC, PFIC Italia, as part of the PFIC Network International Alliance, provides vital psychological, financial and legal support to patients and caregivers around the world.
“In the past four years our association has grown a lot. We started off with five families and now more than forty families have joined our network,” Francesca explains. “I hope that through our work future parents will be aware of PFIC and will not delay going to the doctor and asking for help if they spot similar symptoms,” she concludes.
References
1. Pawlikowska L, Strautnieks S, Jankowska I, et al. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. Journal of Hepatology. 2010;53(1):170-178.
2. Baker A, et al. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019. 43:20-36.
3. Mighiu C, et al. Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study. Orphanet J. Rare Dis. 2022. 17:1-9.
Disclaimer: Any medical information included in this article is not intended to form medical advice. It must not be used as a tool to help understand or assess potential options around diagnosis and treatment. Patients must consult a doctor to receive medical advice, diagnosis and treatment that is appropriate to their specific and unique circumstances.
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Date of preparation: August 2024 – BYL-PFIC-ALL-000063
