After her five-month-old daughter’s diagnosis with progressive familial intrahepatic cholestasis (PFIC) in 2012, Emily Ventura needed to wait three years to connect with others in the PFIC community. Today, the PFIC Network strives to ensure that no family experiences the disease in isolation.

Written by Geoff Case, RARE Revolution Magazine

In 2012, Emily Ventura was on a family trip to Wisconsin when she noticed finger-like bruising on her five-month-old daughter’s back and swelling in her shoulder. “It was enough that we took Cedar to the emergency room, where she was found to be in full-blown liver failure.”

Fortunately, the medical team in the intensive care unit were able to stabilise her but no diagnosis or even suspected diagnosis could be made at that time. That had to wait for several traumatic weeks—during which Cedar was in and out of hospital—until genetic testing finally brought answers.

On the way to the centre/hospital, Emily felt euphoric, thinking that things would surely get better with a diagnosis. However, at the appointment she was distressed to learn that her daughter had progressive familial intrahepatic cholestasis (PFIC). “I learned very quickly that it was a chronic illness, that it was progressive, that there was not a lot of options, and that there was uncertainty around available treatments.”

Emily’s daughter was treated with a partial external biliary diversion when she was fifteen months old, but unfortunately this did not stop her pruritus (itch). At this and every step, Emily wished that more information was available.

“There wasn’t a lot of education. There were stories on Google about transplants and about people that had passed—it was not a very good picture. So we didn’t really know what to expect.”

What does PFIC stand for?

Progressive: tending to get worse over time

Familial: originally described in families and related to changes in genes

Intrahepatic: involves disease inside the liver

Cholestasis: poor bile flow and build-up of substances in the liver Source: PFIC.org | Learn about PFIC

Finding a small Facebook group for people affected by PFIC was transformative, Emily says. It didn’t her give more answers about PFIC but it did connect her with a group of individuals with the same experiences and the same questions. “That really changed our outlook and our mindset… our whole world changed.”

“Stepping out of that isolation really helped us to live with the disease, rather than be afraid of the disease.”

– Emily

A few years later, when Emily and a few other parents were asked to support the group’s website, Emily’s advocacy journey really took off. “We wanted to make sure that no families experienced this disease in isolation,” she explains.

Since those early days, Emily and her “fabulous team of really talented individuals” at PFIC Network, have done their utmost to keep the PFIC community up to date with trends and advances in this disease area through a range of educational resources. Emphasising the serious and chronic nature of the disease, Emily says that “even if you’re on a treatment or an intervention that is helping you, it’s so important to understand how the disease can affect you and your family.”

Little things can make a big difference, she adds. “Certain things that might seem basic, like taking vitamins or special formulas and listening to your body if it’s tired—those types of things can really have a profound impact on how patients do with the disease.”

A key resource available from the organisation is the award-winning PFIC Network Educational Brochure, which was designed with help from its medical advisory board. The brochure first explains the basics of the disease that are relevant to all people with PFIC, regardless of the disease subtype or the person’s age, before exploring the subtypes in a detailed but accessible way. It is available in several languages.

As well as the leaflet, there are articles and videos on the website, covering everything from the basics of the disease to in-depth explorations of aspects of it. “Meeting the needs of the entire community is really important to us… we try to offer all the different modalities of education,” Emily explains.

PFIC Network’s approach to providing practical support for the community is personalised in a similar way, ensuring that each family who gets in touch can have the tailored emotional support that they need, through group and one-to-one support sessions. It offers separate online support groups for adult patients, caregivers and grandparents.

“We do our best to connect people with a peer who has had a similar experience. Whether it’s adult to adult, or subtype to subtype, or transplant to transplant.”

– Emily

For the times when people within the community need a little “pick-me-up”, the PFIC Network has a wonderful Care Package Program. This enables people to send a care package to a PFIC patient, caregiver or family member to show they are loved, supported and not alone.

Typically, the package will contain a custom PFIC Network “Itching for a Cure” stuffed animal, but for a parent it might be a spa package instead, for example. “Just a little something to say, ‘Hey, there’s somebody—there’s a community—who gets it, that’s thinking of you,” Emily says.

“One of our medical advisory board members in the Netherlands emailed me to say one of his patients had brought a bear into an appointment. He felt joy just by seeing his patient had that connection.”

– Emily

Although it is based in the United States, the organisation helps to drive global advocacy work through the PFIC Network International Alliance. This empowers local advocates with education, tools and resources that will help them to improve the lives of people living with PFIC.

Another important group within the Network is the International PFIC Research and Registry Review Committee (IRRRC), which focuses on research. It participates in reviews of PFIC research and of the patient registry, and it’s involved in reviewing small research grant reviews alongside expert reviewers from the scientific community.

Project IMPACT is an important ongoing project at the PFIC Network that will help prepare the community for patient-centered outcomes research (PCOR) by July 2025. PCOR emphasises questions and outcomes that are significant for patients and their families.

Unlike traditional clinical research, PCOR involves patients and caregivers as equal partners throughout the entire research process. The insights from PCOR can empower patients and their healthcare providers to make more informed decisions about care pathways, aligning these with patients’ preferences and values.

Looking to the future for the PFIC Network, Emily hopes that it will continue its success in forging partnerships with industry, providers, scientists and researchers. “We really rely on partnerships to get the right stakeholders at the table and then bring the patient voice to those conversations,” she says.

She emphasises that policy and advocacy work depend on multi stakeholder engagement. “If you want to be efficient, you’ve got to make sure you bring everybody to the table as best you can, and make sure we’re all talking about the same thing and not duplicating efforts.”

Personally, Emily looks forward to continuing her passionate advocacy for the PFIC community, “bridging the gap” between patient and provider and “making sure each is understanding the other’s language”.

Finally, Emily highlights PFIC Awareness Day, which takes places on 5 October every year and is very much a highlight of the PFIC Network’s calendar. It started with the three co-founders leading a community effort to host lemonade stands, raising an extraordinary $10,000 after the 2019 Family and Scientific Conference (an annual event that brings stakeholders together to discuss community priorities).

“For this year’s Awareness Day, we’re looking to raise $80,000 to make sure that we can sustain our community programming and really invest in community engagement and research,” Emily says.

“We want to continue to keep the patient voice at the centre of research and to continue to provide resources for research and researchers, and to really continue to stimulate the field.”

– Emily

Find out more

Find out more about PFIC Network here: https://www.pfic.org/

✉ Contact PFIC Network by email: info@pfic.org

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PFIC Network and the PFIC Network logo owned by, and a part of the PFIC Advocacy & Resource Network. PFIC Network is a registered 501(c)(3) charity.

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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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Ipsen has provided sponsorship to support the production and distribution of this article. Ipsen had no influence over the choice of speaker and had no editorial input into the content of the article, other than a review for medical accuracy. All opinions are those of the contributors and there was no transfer of value for participation. RARE Revolution Magazine and IPSEN are not responsible for the content of any external sites linked to or referred to within this article. RARE Revolution Magazine retains all copyright.

Date of preparation: August 2024 – BYL-PFIC-ALL-000063

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