World CDG Awareness Day

 Happy World CDG Awareness Day! May 16 is the day that highlights Congenital Disorders of Glycosylation or CDGs. At the most basic cellular level, the sugar-building blocks, called glycans, do not develop normally. This impacts every aspect of development, with varying effects in differentc children. The reason this day is even on our radar is that Teddy's diagnosis fits into the category of a CDG. Teddy has CDG-PIGN.

CDG-PIGN (also diagnosed as Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1)) is one of 161 known types of CDGs. As a whole, research for CDGs is limited due to the complexity of each CDG, the biodiversity of CDGs and the low prevalence of CDGs in the general population. All CDGs are rare, and each subset is even rarer. To our knowledge, based on research papers and our connections throughout the world, there's perhaps 150 people in the world diagnosed with CDG-PIGN. That's a generous estimate.

Of course, that doesn't mean there aren't more people in the world who have CDG-PIGN. The diagnosis for this disorder comes from whole exome sequencing, which is an expensive and frankly bureaucratic test to obtain as it's not widely covered by insurance. That's why it took us 2 years to get Teddy's diagnosis from the first noticeable symptom (seizures). 

When we got Teddy's diagnosis in November 2015, our genetics team told us they wanted to write a paper on Teddy since his diagnosis is so rare, and he presented differently from the other limited research papers in existence. We were told they were very busy and backlogged, so it would likely be at least a year. Guess what? It's been nearly 6 years. I've given up hope that our original genetics team will ever write that paper. We had someone else who was presenting a paper with Teddy included last year, but COVID derailed that.

Aside from the difficulty in getting a diagnosis and the lack of current research, there's also the reality that Teddy's diagnosis didn't drastically change his medical treatment. He was already in various therapies to work on building his fine motor, gross motor and speech skills. He had a few other tests completed, as precautions, but those yielded no abnormal results. He already had a neurologist to manage his seizures. He would have qualified for specialized services at school, as he was in the early intervention program for his delays.

That's the reason I've said his diagnosis changed nothing, but I've also said it's changed everything. What changed for us is that we have a place where we fit, with a small group of other families who share this diagnosis. There's an instant connection with these families, and they're a terrific resource in finding answers to questions that we can't get answered elsewhere. That has been the most beneficial and life-changing impact of receiving a diagnosis.

In past years, I've shared a glimpse of other children with CDG-PIGN. I'd invite you to get to know other children who share with Teddy not only genetic abnormalities but strength, preservice and joy. This is the most encompassing post, although our group has grown in the past 2 years: https://teddystriumphs.blogspot.com/search?q=smiling+faces+of+pign

And if you're wondering what you can do, share this post. Tell a few other people that you know or learned about this rare disease. The more we raise awareness, the better the odds of research gaining traction.