Clinical Genomics

Genomics is a fun word, isn't it? Like economics, but with genes. Sheesh, it's been a long week at work, which is why I'm starting out with a ramble. I swear there is a point to this post, though. 

At the World CDG Conference, I discovered that Mayo Clinic has a Department of Clinical Genomics. Mayo Clinic is approximately 4 hours from our home and about 2 hours from our land. This was news to me as I had thought the only CDG-specific clinic in the United States was at CHOP in Philadelphia. Philadelphia was simply too far to travel for a consult when Teddy is stable and doing well.

But to have experts that close to home? It's absolutely worth working with them to coordinate Teddy's care. Teddy has a good pediatrician, a phenomenal neurologist, a wonderful physiatrist and a great team of therapists. But there's no one on his team with expertise with CDG, so they each treat his symptoms within their specialty. It truly does meet his day-to-day needs.

However, it leaves the burden of learning about CDGs, potential studies and new developments to us as parents. We had hoped to have our genetics team provide the latest in research and get Teddy into research himself. We realized pretty quickly that since Teddy's puzzle was solved, genetics had no interest in looking at the same puzzle again and moved onto other new puzzles and diagnoses. I know that team was incredibly busy and backlogged, but it was still a disappointment. 

So we've managed, largely by sharing information among our PIGN Facebook group about medications, primarily for seizures, and research opportunities. It's hard to describe how excited I am to have Teddy seen and followed by an expert in CDG.

Seriously, his doctor's bio is beyond impressive. Not only has she heard of CDG, she's been instrumental in the discovery of several. Not only is she aware of research opportunities, she's leading one of the current studies. (We already got the consent and completed it, so Teddy will join that study with his upcoming visit.) I know this won't likely drastically change anything for Teddy, but I'm excited about the doors it may open and the additional knowledge we'll have.

His appointment is July 16, so I'm sure I'll provide an update after that. I don't think they've seen another PIGN kiddo there, so Teddy may be a novelty to them. But they know the overall diagnosis, and that's incredible. The only other time we had that was at the NIH when we went there for the week-long study. An added bonus: this study is mostly paperwork, with optional urine, blood and stool samples. That's far more doable than another week filled with every medical test known to human kind. 

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.