Lisa Crompton, 44, learned that her 17-year-old daughter Cadence had progressive familial intrahepatic cholestasis (PFIC) in 2011, when Cadence was 2.
“When Cadence was diagnosed, her doctor told me that he didn’t know how long she would live,” Crompton, who lives in St. Catherines, Ontario, recalls. “It was such a rare disease, her physician didn’t have any other families to connect us to for support. I felt so alone.”
It can be tough to find support if you have a child diagnosed with PFIC. The disease only affects 1 in every 50,000 to 100,000 births. One online community, PFIC.org, was created in 2002 by a woman whose daughter had the condition. But the group didn’t really take off until about 2018, when it became a nonprofit called PFIC Network Inc.
“When I emailed them initially, I didn’t even get a response,” says Crompton. “That’s one of the reasons I joined its board, to expand its reach and advocacy.” Today, the group provides support to over 100 North American families and has raised hundreds of thousands of dollars to fund PFIC research.
It’s important to find that support if you have PFIC, stresses Crompton. “You don’t want to go through this alone,” she says. “It really helps to talk to other parents whose kids have PFIC. It provides emotional support as well as insights into various treatments. If I had connected with other folks sooner, it might have helped me find the right therapies for Cadence.”
How to Find Support for PFIC
The best place to start is the PFIC Network. “It’s the first place I send the parents of my newly diagnosed patients,” says William Balistreri, MD, director emeritus of the Pediatric Liver Care Center at Cincinnati Children’s Hospital in Cincinnati, Ohio.
Once you reach out to the organization, they will connect you to other families of kids with PFIC, says Crompton. They also recommend that you join some or all of the below Facebook groups:
- BRIC, PFIC and Other Rare Liver Diseases
- Teens & Young Adults Living with PFIC, BRIC or Other Rare Diseases
- PFIC, BRIC Australia and New Zealand
- Liver Families
The American Liver Foundation also provides resources for caregivers. They offer a monthly virtual support group meeting as well as online liver disease and support group forums.
How to Meet Other PFIC Parents
Judit Sibilia, 33, speaks every day to another mom, Jen. They live in different states about 100 miles from each other, and they’ve only met a handful of times. But they both are parenting 2-year-old toddler girls who have PFIC.
“It’s just nice to connect with someone else who ‘gets’ it,” says Sibilia, who lives in Wallkill, New York. “When I take my daughter Elliana to a group playdate, and she starts to scratch, the other moms tell me I need to put more moisturizer on her. They mean well, but they just don’t get it. Jen, on the other hand, is in the trenches with me. We both live with endless itching and sleepless nights, and we give each other support and swap tips.”
The two families met up earlier this year to participate in the American Liver Foundation’s Liver Life Walk in New Jersey. “Jen and I were both worried because it was a warm day, which can cause itching,” recalls Sibilia. “But the girls were great. They loved the fact that Elsa from Frozen was there, and they were obsessed with someone dressed up as a liver. But it was also nice for both of them to find a playmate who also experiences the same intense itching.”
One good way to meet other parents is through social media. Sibilia met Jen and a few other moms after she started an Instagram page devoted to her daughter called “ellie_vs_pfic1.” She takes pride in the fact that she’s been able to provide advice and be a source of comfort for new parents.
“I speak frequently to a woman in Nashville who has an infant who has struggled with jaundice and has trouble with feeding,” says Sibilia. “I try to reassure her as much as possible that it will get easier as her baby ages.”
If your child receives care at a larger pediatric liver center, their hepatologist, or liver specialist, may be able to connect you to other parents and kids, too. “Ironically, Jen and I go to the same center and have the same medical team,” says Sibilia. “Our doctors were going to introduce us, but Jen found me through social media first.”
Teens with PFIC may also find they connect with other teens on social media, too. Crompton’s daughter Cadence has started her own TikTok account, “chronicallycade,” where she documents what it’s like to be a kid with PFIC. “She’s made some friends from it that she talks to regularly,” says Crompton. “It’s been a great way for her to meet others and to do her own advocacy.”
How to Talk About PFIC to Others
If your child has PFIC, you may struggle with how to explain the condition to others. You may get questions as to why your child always scratches themselves, or why they have to wear an ostomy bag. “We’ve always been very open about Elliana’s condition,” says Sibilia. “We want Elliana to feel confident and in control of her PFIC as much as possible.”
Elliana recently had a surgery known as an external biliary diversion, where a piece of her small bowel was used to create an external opening to drain bile from her gallbladder. An ostomy bag was then attached to her belly to collect the bile so that it’s not recirculated into her liver. “We tell her that the ostomy bag gets rid of her itchies,” says Sibilia. “We even made up a ‘bye bye itchies’ song to sing whenever we empty it. We want her to feel as positive about her ostomy bag as possible.”
When other kids ask about Elliana’s ostomy bag, Sibilia doesn’t hide it. “We explain that Elliana gets very itchy, and the bag helps to take her itchies away,” she says. “Hopefully, as Elliana gets older she will feel comfortable explaining her PFIC, and her ostomy bag, to everyone around her. We don’t want her to feel like she needs to ‘hide’ anything.”
You’ll also want to talk to your child’s school. Some kids with PFIC may find it hard to focus at school, either due to lack of sleep or distraction from itching. You can request the school provide a 504 education plan, which allows your child to receive medical accommodations.
Other Support Resources
Parents of kids with PFIC may struggle financially. It can be challenging to work, for example, because of your child’s many medical appointments.
There are resources to help safeguard your job if you frequently have to miss work. The Family Medical Leave Act (FMLA) provides 12 work weeks of leave over a 12 month period for certain reasons, including taking care of a child with a serious medical condition.
You can also apply for a grant through the PFIC Financial Assistance Program. It helps to offset costs that may occur, like medical expenses not covered through insurance or health care premiums or copays.
Other resources include:
- The Patient Advocate Foundation, to help you apply for insurance and government aid programs, as well as discounts and setting up payment plans
- Angel Flight NE and SkyHope, both of which provide free air transportation to medical appointments
- NORD Caregiver Respite Program, which provides grants to cover the cost of short-term child care or skilled nursing care for kids with rare diseases like PFIC
- United Healthcare Children’s Foundation Grants, to cover out-of-pocket medical costs for U.S. citizens under age 16
The bottom line: it’s crucial to reach out to other patients and their loved ones after a PFIC diagnosis.
“I struggled alone for about four years,” says Crompton. “It wasn’t until I met other families that I learned that there are many kids, teens, and even adults who live full lives with this condition. Every time I speak to a new parent, I stress two things: Cadence hasn’t yet needed a transplant, and she’s thriving. A PFIC diagnosis isn’t a death sentence, especially with newer treatments available.”
Show Sources
Photo Credit: E+/Getty Images
SOURCES:
Lisa Crompton, parent, St. Catherines, Ontario.
Judit Sibilia, parent, Wallkill, New York.
William Balistreri, MD, director emeritus, Pediatric Liver Care Center, Cincinnati Children’s Hospital, Cincinnati, Ohio.
National Library of Medicine: “Progressive Familial Intrahepatic Cholestasis.”
Mayo Clinic Press: “Progressive familial intrahepatic cholestasis(PFIC): Treatments that can help.”
PFIC Network: “PFIC Network Mission,” “PFIC Network: Our Impact,” “Resources FOR Families, BY Families.”
US Department of Labor: “Family and Medical Leave Act.”
