Tuesday, May 16, 2017

World CDG Awareness Day

May 16 is World CDG Awareness Day.

So you ask, what in the world is CDG? CDG is the abbreviation for Congenital Disorders of Glycosylation. See why it's referred to as CDG? The oversimplified explanation is that this is a group of disorders that people are born with that affects how cells function on a biological level. This group of rare disorders includes Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1), which is Teddy's diagnosis.

Given the rarity of CDG, including Teddy's diagnosis, we want to do what we can to raise awareness. Awareness is important to us on a personal level because we want other families with this same or similar diagnosis to know they are not alone, that the prognosis may not be as bleak as portrayed in the limited medical research and share the amazing support group of families with the diagnosis.

Also, awareness is the first step in generating interest. Interest is the first step to inspire someone to want to do research. Research is critical when you have a diagnosis like MCAHSS1 with less than 50 known cases in the entire world. There's not much there to research and not many reasons to invest money into that research.

But I have one really cute and important one:

So, we'll be wearing green today for World CDG Awareness Day. And maybe, just maybe, next year I'll be on the ball enough to get shirts made for our family.

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