CDG World Conference: CDG Basics

This year the World CDG (Congenital Disorders of Glycosylation) Conference was hosted entirely virtually, which enabled me to attend and even participate as a panelist for a session. This event typically rotates between San Diego and somewhere in Europe, every other year. That travel component and cost has been the primary reason I haven't attend in prior years. After my experience this year, I might need to invest in plane tickets in the future. 

The conference was 4 days, which is mighty long for a virtual conference with back-to-back 6- to 8-hour zoom meetings. However, it was well worth the screen time. There were a variety of sessions, some more valuable to me than others.

One of the most useful to me was essentially CDGs 101, an introduction and overview to the variety of CDGs. Here's a few of the most interesting things I learned or relearned:

1. The first CDG was discovered in 1980 by Professor Jaak Jaeken. In fact, World CDG Day is celebrated on May 16 in honor of Professor Jaeken's birthday. Although he turned 80 this year, he is still one of the most active and prominent advocates for CDGs. 
2. The first CDG discovered was PMM2, which is also the most common CDG, not surprisingly. In 2009, there were approximately 40 known types of CDG. Now in 2021, there are 161 known types with more added each year. Teddy's PIGN-CDG was first discovered and documented in research in 2011.
3. All CDGs are metabolic disorders that affect how glycans (sugar-building blocks) attach within the cellular level. There are different pathways that are affected by different CDGs. The conference shared that currently there are known to be 3 types that are lipid linked, 27 GPI-anchor, 34 that are N linked, 46 that O-linked and 56 that are multiple pathways. I wish I could you specifically which type PIGN-CDG is with certainty, but honestly I'm not certain. I am confident it's GPI-anchor, but it may actually be multi-system with one of those being GPI. If you figure this out, let me know.
4. CDG affecting the same gene can result in multiple diseases or presentations of disease. To some extend, that's why we see such dramatic differences in the functioning level of our PIGN children.

I will work to share additional thoughts on the conference in the future, but I don't care to bore you with all the fascinating things all at once. 

Professor Jaeken still advocates for the CDG community at the spry age of 80.

Thinking and Tinkering

We spent about an hour playing in the garage earlier this week, with Teddy showing off all his skills riding different toys for his grandparents and bossing them around by making the take turns sitting on the lawn mower. It was fun to slow down and watch not only his physical skills as he rode a tricycle, a scooter and a ziggle but also his fine motor and motor planning skills.

For example, he zoomed around on the bike, backing up to avoid hitting the garage door, steering around obstacles and handling it like a pro. He has learned to actually scooter on the 3-wheeled scooter that provides a bit more balance. (He also believes he can do the 2-wheeled scooter just fine for the record. That is terrifying to watch.) When we encouraged him to show off the ziggle, he went across the garage first to get a helmet, stuck it on his head and proceeded to chew on the strap and then hopped on the ziggle. Part of the helmet was loose and in his face, so he attempted several times to adjust it because he recognized it wasn't right. I'm not quite sure why the ziggle requires a helmet, but I was glad to see at least something triggered the need to wear a helmet.

Then Teddy decided that he needed to do repairs on the various bikes. He got the socket wrench we use to put the bike carrier on the Tahoe, took it to his trike and began manipulating it around the wheel. Then he moved on the the ziggle, flipped it over and started "working" on it.

This type of physical play, fine motor coordination and pretend play is all fantastic to see. It was a nice opportunity to relax and enjoy the progress that Teddy has made.

"Comparison is the Thief of Joy"

Note: This is adapted from an extremely lengthy Facebook post I shared earlier this year, and I received much love and encouragement in response. This really wasn't meant to be a complaint but really to focus on the quotation from the man who inspired Teddy's name.

Earlier this month we received Teddy's neurodevelopmental report from NIH. There's a lot of insightful suggestions in there as well as recommendations that will hopefully help him receive additional supports in the school system to best meet his needs.

Yet, part of that report includes different methods for scoring him for developmental age. Talk about a kick right in the stomach (or other more painful places). His highest score was in the low 2-year-old range, and that's only because he's fascinated with dragging around brooms, vacuums, snowblowers and lawn mowers. Seriously, his highest score was in something like domestic skills. Then there's things like his expressive language, which scored at a whopping 4 months.

Now, if I compare Teddy to others his age, I feel overwhelming sadness of what he cannot do that babies can do. I know, without a doubt, that my friend's 6-week-old newborn will pass Teddy within a year for language skills (and apparently quite a few other things). 

But this serves as a reminder not to compare. There is great joy in watching Teddy point to something he wants, in seeing him work his way into snowpants, watching as he presses the buttons to make his toys sing and observing him scale a ladder to the highest point and then wait with his big smile to see if we'll tell him to come down. No developmental screening can take that away ... but at least it might get him the additional supports that enable him to really thrive at school.