What is PIGW-CDG?
PIGW-CDG belongs to a class of genetic disorders called Congenital Disorders of Glycosylation. In a nutshell, these disorders affect how sugar chains (glycans) are built, transformed, and ultimately attach proteins and lipids to cells throughout the body.
There are 4 subcategories of CDG, and PIGW sits within one of these subsets known as GPI-anchor disorders. GPI-anchor genes affect how sugar chains are created, attach to a protein and then are ‘anchored’ to a cell. These disorders are devastating for the children diagnosed with them because they affect cells throughout our entire body: everything from our brain to our muscles to our organs. A breakdown in this process puts healthy functioning of literally every system in our body at risk.
PIGW is a gene that controls one of the first steps in the process. Children with PIGW-CDG typically have global developmental delay, seizures, physical and cognitive disabilities and severe hypotonia (muscle weakness or low muscle tone), which can affect everything from ability to eat, to inability to clear infections and frequent pneumonia, head and body control. It is also one of the genes which causes Mabry Syndrome. Life expectancy is unknown since it’s a relatively newly discovered disease, but there aren’t any documented individuals living with the disease beyond early teens, and most known cases are young children.
You can read about Hannes’ story here, but amazingly, he is fighting to achieve milestones that shouldn’t be possible like sitting and crawling. He’s only 1, so if we were to find a treatment, or ultimately a cure, he still has a chance for significant development and a longer life than the current prognosis.