Building awareness and communities to support and find treatments for Rare Diseases and Genetic Conditions
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing a child with CDG and pinpointing the exact sugar gene that’s [...]
My eldest, a girl aged eight, is very prim and proper. She likes getting 10 out of 10 in her spelling tests, finishing all her homework and getting certificates. She would be mortified to arrive late for school, and she refuses to break any rules ever. If [...]
Summertime brings warmer weather, longer days, and perhaps some time for vacation or travel. For many rare disease organizations summer is a common time to gather families, medical and scientific experts together for a conference. This summer, I have the great pleasure to attend several [...]
