Tuesday, November 24, 2015


All parents feel guilty at some point, I think. Sometimes, it's probably warranted. And sometimes it's over things that are far beyond our control.

As it became clearer that Teddy wasn't a typical child, the guilt and worry kept creeping into my mind.

Was this because of my Crohns and medications I took during my pregnancy? I had followed my doctor's orders, which were even more conservative than with my first child. (I had even participated in a multi-year study following my first son's birth to check the possible effects of the medication.)

Maybe it was the fact that his umbilical cord was wrapped around his neck when he was born. Maybe we should have been more concerned that he was blue at birth and advocated or did something differently.

Or perhaps it was that moment when he tumbled out of a chair, and I learned he could indeed move his body that way instead of being a motionless baby. Or perhaps the time his big brother "helped" him out of the chair by pulling him down into the over-sized stuff animal that served as a landing pad that was never intended to actually be used.

Was there something we did wrong? Something we could have changed?

After getting a diagnosis, it alleviated pretty much all the guilt associated with how and why Teddy was Teddy. (Don't get me wrong - there's enough guilt for other things because I'm still human.) In many ways, it was freeing to know this was how God made Teddy. It wasn't my fault. I hadn't caused this. It wasn't my Remicaid infusions. It wasn't me failing as a mother by having his cord wrapped around his neck (although I realistically had no control over that). And it wasn't those few times he tumbled.

It was Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1. It was a genetic mutation of the PIGN gene. It was how God made Teddy.

There's been so much that's been difficult to accept (process is the word I use most often), but this relief was almost instantaneous with the diagnosis. For that, I am grateful. I had been making progress on accepting that even if Teddy's symptoms were caused by something in the past, there was nothing that could be changed aside from doing what was best for him in the present. Still, the diagnosis brought full closure for me on that aspect and made it easier to accept the "What's next? What's the best we can do for him now and in the future?"

Friday, November 13, 2015

Diagnosis Day

Teddy was diagnosed with the genetic disorder Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 as a result of exome sequencing. There was a 25% chance of finding the cause of his uniqueness, so we were surprised to get an actual diagnosis.

As far as the diagnosis goes, well, we were astounded to learn this condition was discovered in 2011, and Teddy is the 15th known case in the entire world.

That means when we got married, one of our future children would have a disorder that wouldn't be discovered yet for another 5 years. It's crazy. It's hard to wrap our arms around.

We hadn't really speculated as to what we might learn because we had already eliminated most of Dave's (paranoid) guesses from his research, which didn't include this diagnosis. There's 3 things on Google: two research papers and a NIHS article, all of which we got from our genetics department at Children's Hospital in Milwaukee. In our age of Google, 3 true related hits is insane.

So, the genetics counselor asked if we planned to have more kids. My answer was "Not after today." Dave's thought was "F--- no!" We love Teddy. We love AJ. Way back before Teddy was born with a will stronger than ours, we wanted 3 kiddos (3 healthy boys was my wish). But there's a 25% chance of another Teddy syndrome (and a 50% chance of carrier status). Not a risk we'll take. We had been waiting for these results to see if we would even consider more kids, and this slammed the door shut. That's hard.

Aside from me actually enjoying pregnancy, it ends some dreams. The worst of it is AJ won't have a typical sibling. We feel we're robbing him of that experience. It feels like the best case scenario is he's responsible for taking care of all of us when we get old. And that's so unfair. I know he'll gain immeasurable things like empathy, compassion and acceptance, but it's still not fair to him. This is one of the hardest things to accept.