Standing Stronger Together on PFIC Awareness Day
Hugo Gomes da Silva, SVP Global Medical Affairs (Rare Disease) at Ipsen, shares powerful insights into the evolving challenges families face throughout their PFIC journey—and highlights the critical importance of trusted information and community support.
As we mark PFIC Awareness Day on October 5, I reflect on what I have heard from those living with Progressive Familial Intrahepatic Cholestasis (PFIC) and how the disease impacts them not just on one day, but every single day. PFIC is a rare genetic liver disease, often diagnosed in infancy or childhood, that can cause progressive liver damage, severe itching, and has a profound impact on quality of life.
This year’s theme, Stronger Together, speaks to the power of unity, empathy, and shared knowledge within this community. For families, this theme represents not only awareness of the condition itself, but also the reassurance that no one should face PFIC alone.
I have had conversations with those parents who embody this spirit of strength and advocacy. One of them is Emily Ventura, co-founder of the PFIC Network and mother to Cedar, who lives with PFIC. She remembers how difficult it was in the early days of her daughter’s diagnosis: “Learning what PFIC really meant for my daughter was overwhelming. I felt lost and unsure of where to find reliable guidance.”
What helped Emily most was finding a community of families who had walked the same path, transforming her fear into confidence. Inspired by this, she went on to co-found the PFIC Network, which provides both trustworthy information and a safe space for families to connect.
Francesca faced a similar journey when her daughter, Eva Luna, was diagnosed with PFIC as an infant. The first months were filled with uncertainty and fear as they tried to understand what the diagnosis meant. One of the most difficult challenges was managing Eva Luna’s persistent itch, which Francesca described as “like a monster” that disrupted family life. Helping her daughter feel comfortable and live a happy, active childhood became the focus of their journey. Many other families share this challenge of balancing symptom management with daily life and hope for the future.
For Francesca, connecting with other mothers gave her hope and perspective: “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 live a normal life.” This led her to set up PFIC Italia, which not only supports those in Italy, but has international reach.
Emily’s and Francesca’s journeys show us that behind every diagnosis is a family searching for clarity, support, and the reassurance of not being alone. To navigate PFIC, families need both knowledge that empowers them and a community that gives them strength.
At Ipsen, my colleagues and I are committed to listening to families and standing alongside them. PFIC Awareness Day reminds us that advancing science is only part of the solution; solidarity and support are equally vital. By standing stronger together, we can help families feel informed, empowered, and never alone on their journey. The PFIC Network is a trusted source for families, bringing together the full spectrum of information, tips, and real experiences in one place.
To learn more about PFIC, visit the PFIC Network’s website: PFIC.org and the PFIC Italia Network
