By the time my daughter, Cedar, was five years old, her liver was severely damaged, and she desperately needed a transplant.
Cedar has progressive familial intrahepatic cholestasis (PFIC), a rare genetic disease that can lead to liver failure in early childhood. Even after a surgical procedure called partial external biliary diversion, intended to subdue the intense itching brought on by PFIC, her liver disease progressed, and she was down to her last treatment option — liver transplant. Cedar’s transplant was successful, but it is not without risk. She will be on immunosuppressive medications for the rest of her life.
Attending a Family Conference
Cedar and I attended the PFIC Family Conference that was held in partnership with another rare disease advocacy group called Alagille Syndrome Alliance earlier this year. This family conference was the first time Cedar met a group of children in person who could understand her experience, including frequent hospital stays, debilitating itch, and lots and lots of medications. When she shared with the group how much she hated taking liquid medicines, the other kids immediately understood: “Hey, I hate taking liquid medicine, too!”
Here were children who looked like her former self: a girl with a feeding tube, another child with an ostomy bag. They took medicine breaks along with bathroom breaks and covered their wounds with bandages. Instead of being different from their friends due to PFIC, they were all the same because of PFIC. But most importantly, the children were excited to just play together in a supportive environment.
For me, the PFIC family conference was a historic event. Not long ago, I was the mom of a sick kid who didn’t know where to turn for information. Through the support and mentorship of Alagille Syndrome Alliance, we saw a successful model of how community can make a difference. It was life-altering to make connections with people who have been, or are going through, that exact narrative. Most people with “normal” kids have the best of intentions and express empathy when they hear Cedar’s story. But being in a room with 20 other families who “get it,” and can share medical information or ways they soothe their child’s itching was invaluable. And it was incredibly empowering to be able to help guide newly diagnosed families to resources that could help.
I am fortunate to be one of the leaders of the PFIC Advocacy and Resource Network. Our mission is to improve the lives of patients and families worldwide affected by PFIC. We support research programs, provide educational materials and peer support, and participate in advocacy. Our immediate families, extended families and communities live PFIC every day because someone we love is affected, and we understand the needs of the disease and all that it entails.
There are many unknowns when it comes to rare diseases like PFIC. To successfully study potential new treatments, it is helpful to have patient registries, or even a foundation of previous research on which to build. It’s also helpful to have access to a group of diagnosed patients and to understand how a condition may progress in the long term. The PFIC community is rare, so these things are all still being created. But once scientists, physicians, regulators, and others connect with the PFIC community, they realize the desperate need for more medical options. Patient-led advocacy groups can give their community a voice and help connect researchers and patients. We believe our work is essential and pushes our cause forward, so future patients may have more options.