UPDATE: August 2018 - Since receiving Jackson's diagnosis we have worked with a genetics doctor at Primary Children's Hospital and they can't find the genes associated with Congenital Disorder of Glycosylation. In order to have CDG, you have to have two mutated genes. They can only find one in Jackson and one in me. They can't find the other copy in Jackson or in Dad. Therefore, along with his symptoms, they think it showed up in his blood work because he is a carrier of a CDG gene but they don't think this is the reason for Jackson's symptoms.
Congenital Disorder of Glycosylation or CDG for short, is a very rare genetic disorder, so I know you've never heard of it. I worked with people with disabilities for 7 years and I never heard about it. Unlike autism, diabetes, and down syndrome... everyone's heard of those. They all have one thing in common and they're all disabilities -- a physical or mental condition that limits a person's movements, senses, or activities.
But there's a person behind that diagnosis that is sweet, loving, kind, stubborn, caring, funny and SO much more... they'll teach you a lot, if you let them.
People with disabilities are people first! When I learned about this I became super passionate about it. I think it's so important to treat everyone with respect. People may not even realizing what they're doing when they say, that girl with down's, that autistic boy...
But they are not their disability!
Always say, she HAS down syndrome, he HAS autism, they are NOT their diagnosis.
She is not down syndrome, he is not autism. That is a part of who they are, but it is NOT who they are.
About 1,000 people worldwide have been reported to have a CDG diagnosis. Type 2, that Jackson has, is even more rare, like 30 people.
I knew this boy was special, I just didn't know he was this special and rare... I feel blessed to be his Momma. And just look at him... I don't think I'll ever get over him.
I adore this boy!
So what is CDG? What does that mean for Jackson? GOOD QUESTION!
We're wondering the same thing!
CDGcare.com is a great website that explains more about this condition and what it means. A lot of it talks about CDG Type 1, so it's hard to know what the future looks like for Jackson, having Type 2. It says...
"Congenital Disorders of Glycosylation (CDG) are a group of rare inherited metabolic disorders that affect a complex enzymatic process called glycosylation. The process of glycosylation is critical to normal organ development throughout the body. It seems especially critical for the development and maturation of the nervous system."
This video helps explain exactly what Congenital Disorder of Glycosylation means and what it does to the body...
Jackson's is a bit different because he has Type 2 which is a different gene that is affected.
Thanks for reading!