20 (million) Questions

I played a different version of 20 questions this past week, spending 2 hours on the phone with a very nice lady from the National Institutes of Health (NIH) in preparation for Teddy's visit in January. I'm quite glad I filled out all of the details of my pregnancy and much of Teddy's baby book. The conversation itself was pleasant, filled with occasional laughs as I felt the need to explain gaining 45 pounds during my pregnancy with Teddy. (I ate a lot of ice cream.)

But, despite the pleasantness of the person on the other end of the line, the conversation still had those moments. Like when she asked me when Teddy started to run, and I explained that he definitely covers ground quickly but not in the motions of running. She then asked, "Would he describe it as running?"

My honest reply is that he wouldn't describe it as anything because he is non-verbal. Those are the moments that sting, the questions that are answered by what your child cannot do rather than the amazing milestones he's accomplished.

Fortunately, much of our conversation was on milestones and progress, in addition to all the medical history details. All this narrative is combined with Teddy's medical records is designed to prepare the team at NIH for Teddy's participation in their natural histories protocol study.

This study looks at just about any aspect of medical testing you can imagine from MRI to EEG to sleep study to spinal tap (eek!). That last one is the one we're most nervous about, although we're not overly excited at having Teddy sedated twice in a week. (Well, let's be real. Some days we wish we could sedate him. At least at bedtime at my folks' house.) He'll meet with developmental specialists, a gastroenterologist, a neurologist, ophthalmologist, audiologist, geneticist and a few more -ists that I'm missing off the top of my head. It is literally a week of appointments and tests, starting first thing Monday morning and finishing Friday afternoon.

We're hoping to get a better understanding of Teddy and how his body works from his issues sleeping to his incredibly high pain tolerance. There's so little known about his specific diagnosis that this is a unique opportunity to get all these expert opinions to build upon the knowledge of our team here (none of whom have seen any type of CDG most likely).

It also builds the database of knowledge regarding CDG and MCAHSS1 specifically. One other family with Teddy's diagnosis has completed the study and found it to be useful. We view this as an opportunity to help other families with this diagnosis have access to better information in the future.

It's been a long process to scheduled for the study (seriously, 23 months from the time I first inquired to the time we'll actually be there for the study). But, I'm excited that we're scheduled and crossing my fingers that Teddy gets and stays healthy enough to participate in the study (since illnesses tend to cause some issues with either the lodging accommodations and/or tests). If I were to actually think about the ordeal of flying with Teddy, driving through D.C. and all the tests, I'd be full of anxiety. So, instead, I'll continue with my usual technique of blocking all that until right before we leave. That works well for me most of the time.