CDG Awareness Day

CDG Awareness Day is upon us. Our family is busy preparing awareness day t-shirts, gathering up our green shoes, and posting reminders on social media.

For us, CDG Awareness Day is an important day of the year. Our 7 year old, Christopher, has one of the many different subtypes of congenital disorder of glycosylation. He has PMM2, one of the most common subtypes of the disorder. And although it’s the most common, the symptoms that affect each individual can vary greatly. From head to toe, he’s affected. He has cerebellar atrophy, hearing loss, severe retinitis pigmentosa, an oral aversion, seizures, liver disease, fed with a GJ tube, osteopenia, hypotonia, developmental delay...the list goes on. But even with all of that, he wakes every single morning with a giggle and a smile. As I lift his 40 pound body and carry him downstairs, I know that there’s no place he’d rather be.

The other day I was preparing a sign for CDG Awareness Day, and our oldest son looked at me and said “we’re so lucky to be part of CDG.” Lucky. Not exactly a word I would have uttered when we first received our son’s diagnosis. My heart was broken. I was beyond worried and fearful for the future. No, I definitely wouldn’t have said we were lucky that day sitting in the specialists office downtown. But when our oldest said it, I smiled and told him that “yes, we are pretty lucky.”

The CDG community is like no other.

The CDG community is made up of fierce advocates, loving families, and amazingly strong friendships that blossom no matter how many miles are in between. Our son was recently intubated and in the intensive care unit after going into status epilepticus, and there was zero doubt in my mind that my friends from afar would have hopped on a plane just to sit with me and hold my hand. Because my son is theirs, and their children are mine. We are in this unique world together. There isn’t anything we wouldn’t do for each other. And I guess, that is pretty lucky.

May 16 will be here soon! Please help us spread awareness for children like Christopher, CDG angels, and all families affected by congenital disorder of glycosylation. More awareness means more funding, which could lead to treatments and possibly a cure. More awareness could help a family receive a diagnosis they are longing to find. More awareness leads to more research, resources, and improvement in the quality of lives for the individuals and families affected by CDG.

*Head over to ​CDG Care​ to see more ways you can get involved. Also, if inclined, please sign this ​petition​ for the World Health Organization to recognize May 16 as CDG Awareness Day.