World CDG Day 2023

World CDG (Congenital Disorders of Glycosylation) Day is May 16 every year. Since CDGs are rare diseases, raising awareness is important because it furthers research, development, and potential treatment options. Awareness is also key in connecting families who may feel lost with an overwhelming diagnosis to others who are already on a similar journey.

We celebrate World CDG day by wearing green!

Teddy's official diagnosis is PIGN-CDG. There are more than 100 different types of CDGs, all genetic metabolic disorders, yet each one manifests differently. Even among the approximate 75 to 100 individuals known to have PIGN-CDG, the disorder manifests differently in types and severity of seizures, motor skills, cognitive capabilities and more. 

Teddy was diagnosed in November 2015, when he was 2.5 years old, after nearly 2 years of search for answers for seizures and developmental delays. It took us another month before we connected with another family with this diagnosis, and our world changed for the better with that sense of community. It's been remarkable to have people from around the world join the PIGN family as they're diagnosed. Some waited decades for a diagnosis, while others had a name for their child's disorder within weeks. While each of our children are unique, there are things we share:

1. Our children are rare. They're more than 1 in a million. 
2. Our children changed the course of our lives as their parents, extended family, siblings and more. 
3. Our children will never accomplish so much of what we as parents hope and dream for our kids.
4. Our children will, however, open doors we never knew existed and show us the beauty of things we'd otherwise miss.
5. Our children will bring out the best in people, though not necessarily my best parenting skills.
6. Our children will miss out on opportunities because of their disabilities and how our world interacts with those who are different.
7. Our children will, however, experience incredible things designed to make our world accessible for them.
8. Our children are fighters. They work harder than most to master things we take for granted. (Teddy also fights with his brother, but that's not where I was going with this.)
9. Our children make us fighters. I've battled with insurance companies, advocated at doctor's appointments, requested things from strangers, worked for inclusion and more.
10. Our children are a gift. While the challenges are real, the blessings and the beauty are undeniable. 

I've shared multiple times that there's no cure or even treatment for PIGN-CDG. While that is true, our small, mighty group of PIGN families is working to change that by fundraising for research into treatment options through drug repurposing therapy. You can see our warriors in the video below, with a dove representing those we've lost. A huge thank you to my friend Ashleigh who compiles this video each year and shares it with all of us.

If you'd like to donate, any contribution makes a difference: https://teddystriumphs.blogspot.com/2022/06/pign-cdg-research-were-fundraising.html