Emmett was born April 2016 with – we would later find out – a genetic mutation in his PIGA gene, which is a Congenital Disorder of Glycosylation (CDG). This devastating metabolic disorder has, from birth, impacted his ability to eat (he is g-tube fed), his breathing and all aspects of his physical and mental development. He was also diagnosed with infantile spasms (a symptom of the mutation) when he was five months old.
There is no treatment for this extremely rare disorder, so ever since getting his diagnosis, we have been working to research potential treatments and raise awareness among friends and family. We hope to use this blog to update everyone on his life and to share information and resources that we’ve found. For more information about CDGs, visit http://cdgcare.com/what-is-cdg/.