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.
A new genetic cause of Congenital Disorders of Glycosylation (CDG) has been identified, according to a recent study in The American Journal of Human Genetics. This means a blood sample can now confirm diagnosis of this form of CDG, notes Andrew C. Edmondson, MD, PhD, an attending physician in Human Genetics and Metabolism at Children’s Hospital of Philadelphia and co-author on the study. Edmondson is one of the founding members of Frontiers in Congenital Disorders of Glycosylation (FCDGC).
