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.