FCDGC

Andrea Miller, JD, MHA, is the founder and president of CDG CARE (Community Alliance and Resource Exchange), a patient advocacy group that supports individuals and families affected by congenital disorders of glycosylation (CDG). CDG is a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Here, she shares her journey to rare disease advocacy, impactful work by CDG CARE, and collaboration with the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC).

Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Most children who are diagnosed with CDG have neurological issues and symptoms, developmental problems, growth delays, and problems with organs not working like they should. PMM2-congenital disorder of glycosylation (PMM2-CDG) is the most common type of CDG. Here, we speak to two parents of children diagnosed with PMM2-CDG—Heather Franklin (mother of Michaela, age 13, and Nathaniel, age 11) and Bobbie List (mother of Danielle “Dee,” age 21)—about their journey as a caregiver and advocate for children with a rare disease. 

Kent Lai, PhD, is a professor in the Division of Medical Genetics (Pediatrics) at the University of Utah. He is also a member of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). His research focuses on the development of novel therapeutics for both common and rare diseases, including congenital disorders of glycosylation (CDG). Here, he shares his start in rare disease research, exciting discoveries, and future goals. 

A natural history study by the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is uncovering new insights on liver function in patients with congenital disorders of glycosylation (CDG). A paper published recently in the Orphanet Journal of Rare Diseases based on findings from the study recommends that all CDG patients have at least yearly comprehensive screening for liver disease, including physical exam, lab work, and imaging with ultrasound and elastography.