Saturday, December 19, 2015

Family Christmas Pary

Dave comes from a large family since his mom is one of 13 children. Every year, all the aunts and uncles, cousins and kiddos all get together for a huge Christmas gathering. I remember when we first were dating trying desperately to figure out everyone's names. Now we all just struggle to remember all the little ones who we only see a handful of times throughout the year.

We put Teddy in his gait trainer right away, so he could check things out on his own. He owned that place! He was everywhere, going across the fake grass, onto the mats and all around the gym where the party is held. He probably spent 30 minutes in his gait trainer when we first arrived, which is a really long time for him to stay content, motivated and active in it. It was adorable when one of the kindergarten-aged cousins was helping to steer him from behind, and he kept looking over his shoulder giggling and smiling at her.

Teddy made it into his gait trainer for a bit more while at the party and thoroughly enjoyed himself. AJ enjoyed himself until his knees became obnoxiously swollen and painful. He had a rash for the past 24 hours, but no joint swelling until partially through the party. He had been complaining his knees hurt, but I knew we were headed for an ER visit when I saw how swollen they were.

We left the ER with a referral to a rheumatologist for AJ but no diagnosis or treatment. (The swelling was gone by the next day, and the rash disappeared a few days later. His follow up with the rheumatologist was uneventful as well, considering all tests and labs were negative or normal. Just a fluke, unless it happens again.)

Despite the fun of spending a few hours in the ER, I ended the day fairly content. More often than not, when we see children Teddy's age or younger able to do so much more than him with so little effort, it eats away at us. Partially, we hate to see him work so hard to do everything. Partially, we hate the reminders of what he can't do because we don't have that side-by-side comparison. (We're not naive. We know Teddy is delayed. But when we see him day in and day out, we see Teddy and what's normal for him. Seeing others his age or younger is a stark reminder that what's normal for Teddy is not typical.)

But this Christmas party was different for me. It was the first time that instead of the sadness and comparison (like I had felt the previous year's Christmas party and so many other times) that I was so proud of him and excited for what he could do. I know that's how I should be all the time, but it's so much easier said than done particularly since it's more of a sub-conscious thing. I hadn't even realized it until after we left the party.

I know I won't always have the mindset that allows me to focus on what he can do, but it's certainly more uplifting than the alternative.

It's not getting any easier to get a good picture of both boys at the same time!

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.