As we recognize Rare Disease Month this February and Rare Disease Day on February 28, I’m reminded that in pediatric hepatology, rare diseases are not the exception, they’re often the rule.
Caring for children with complex and rare liver conditions is a profound privilege. It’s work that humbles me every day and continually renews my sense of purpose. And children, families, and patients around the globe are counting on us to keep pushing the field forward.
Across hepatology, patients are living with rare diagnoses that remain unfamiliar to many: biliary atresia, metabolic liver disorders, genetic cholestatic diseases, primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), Wilson disease, and other rare liver conditions. In practice, “rare” too often translates to delayed diagnosis, limited treatment options, fragmented care, and profound uncertainty for patients and families. Continued progress depends on our collective commitment to liver disease advocacy, funding, research, and raising awareness.
During this time of rare disease awareness, we have an opportunity to elevate the voices of liver disease patients, to reaffirm our commitment to discovery, effective therapeutics, and to ensure that rare liver diseases remain a priority in research and policy conversations. It’s also a reminder that the hepatology community plays a vital role in advancing scientific innovation, sharing expertise, and mentoring the next generation of investigators dedicated to these complex conditions.
At AASLD, we are committed to advancing education, research, and advocacy that support individuals living with rare liver diseases. I encourage each of you to engage in AASLD resources, collaborate across disciplines, and lend your voice to efforts that strengthen access, care, and outcomes.
Progress is personal for every patient living with a rare liver disease. When we elevate these conditions within our community, we make meaningful progress real. What was once unknown and unaddressed can be overcome through research, education, and collaborative connections with industry. I confirm my own, and the entire AASLD membership’s, commitment to the rare liver disease community.
Saul J. Karpen, MD, PhD, FAASLD
AASLD President