It's a really big mouthful of words that include Congenital Disorders of Glycosylation affecting the PIGN gene. It groups together at least two more specific diagnoses and includes variations of different genetic mutations all on the PIGN gene. Essentially, at least from what I understand, is that each child with CDG-PIGN has a different abnormality within their PIGN gene, which means the disorder presents in different ways and levels of severity.
It's known as a GPI-anchoring disorder, if that means anything to you. It doesn't really to me, but I know that it impacts how things work on the most basic level within a body processing sugars. Not sugars as in all the candy and ice cream a person might consume, but the sugar molecules within our bodies. Basically, things don't attach where or how they are supposed to, which affects essentially the entire body.
I know it sounds confusing, which is why the Portuguese Association for CDG and other Rare Metabolic Diseases put together an infographic explaining CDG-PIGN. It still uses a lot of big words and might require some Google searches of unfamiliar terms, but it's the easiest to read explanation I've seen.
One of the other moms in our CDG-PIGN group connected me with the Portuguese Association, and I was able to provide them with information from our group about skills, therapies, prognoses and number of diagnosed cases that aren't included in research papers, along with a bit of native English-speaker proofreading. They were so awesome to use a picture of Teddy as the inspiration for their graphic designer for the cute kiddo on the poster.
Check out this link for the infographic in a size and format that you can actually read. But here's a picture of the cuteness to go along with the information. As AJ said, it doesn't look exactly like Teddy, but we can see the resemblance in the spiky hair, dimples and smile.
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| This is a great resource for families newly diagnosed with the disorder. |
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