Dorota Cimięga is based in Polland. Recently, her daughter was diagnosed with a subtype of CDG named PIGN, which is a GPI biogenesis defect.
So far, most CDGs are protein hypoglycosylation disorders, with defects in:
N-glycosylation pathway
O-glycosylation pathway
both the N-and the O-glycosylation pathways
The GPI biogenesis defects involve the intersection of two pathways: lipids and carbohydrates. Due to the rarity of this disorder, Dorota is currently, gathering families affected by PIGN to promote exchange of experiences. She is supporting existing projects amongst our organisation focused on CDG awareness.
