Rare is Rad!

If you don't love someone with a rare disease, you probably have never heard the phrase show your stripes. The idea is that we look for the most common explanation, so we think horses when we hear hooves. The rare explanation of a zebra is also entirely possible.

The journey to Teddy's diagnosis was filled with looking for horses and never finding them. We looked at febrile seizures. But he didn't fit the criteria. We looked at all the common genes for epilepsy. But that didn't give us answers. Every test for 1.5 years was negative or normal, yet the seizures continued and the delays grew more noticeable.

When we got his diagnosis of MCAHSS1, we felt so alone as we were told he was possibly the 15th in the world. Within a month, we were welcomed into a small but incredible community.

Through the years, the name of his disorder has changed to PIGN-CDG, and our community has grown. He's been published in a research paper. We've made friends around the world, most of whom we've never met in person.

A diagnosis didn't change the prognosis or treatment for Teddy, but it helped us find out herd of zebras. And I'm the past year our herd partnered with brilliant scientific minds and expert CDG doctors to work together to find a treatment for CDG-PIGN. If you want to support our fundraising efforts, you can donate here: https://secure.givelively.org/.../finding.../kerry-blondheim

Today is Rare Disease Day. We're not alone in our rare journey. Thanks for being a part of our herd. And thanks to Jillian Halstrom Saddlemire for the

rad

shirts!

Rare is rad! We celebrate Teddy's uniqueness!

In honor of Rare Disease Day, AJ presented to his class about Teddy's disorder. He developed his presentation himself, although he invited me to join him. During the course of 30 minutes, AJ educated his classmates on CDGs, Teddy specifically and our research project. He did a great job and is such a great advocate for Teddy!

AJ is so confident and capable in sharing about Teddy's disorder.

The Best Winter Tradition: Picnic Days

One of our favorite winter traditions is winter picnics with my parents, complete with tubing on the creation my dad made called the Beast. This tubing creation has allowed Teddy to join the tubing fun since he was 1.5 years old, even when he had no body tone. We’ve done this tradition once a winter since 2014, first starting at my parent’s farm and then moving down to our land.

AJ wanted to pull Teddy in the sled. Teddy loved that.

We actually got to enjoy 2 winter picnics this year, one in January and one in February. We were blessed with incredible Wisconsin winter weather both days: sunny, in the 30s, little wind and snow on the ground. You can’t ask for better Wisconsin winter weather, especially since that combination makes snow extra packable, perfect for chucking snowballs while being pulled by the tube.

These days are some of my favorites because they’re long enough to enjoy the tubing, campfire, lunch and walks on our property, yet they’re not so long that we get frustrated with Teddy’s lack of listening skills. It’s a very manageable day, and we all enjoy them.

This is a picture of Teddy. He put Grandpa on the tractor and then ran away up the hill.

Teddy went tubing one day, but his preference is to ride with Grandpa as he crazy drives the Ranger trying to knock us off the Beast. AJ’s job is to pack snowballs for me to chuck, and Grandma hangs on for dear life. Dave enjoys that for a while before sneaking off to the river to fish.

Simple days like these are the best family time. No screens while we’re there (ignore the screens that are on the entire drive to and from) and just good ol’ fashioned fun.

Winter Hikes

The other weekend Teddy and I went for a hike together at a local nature preserve. Teddy was super excited to spend some time outdoors in the woods. He loves running through the woods, and it’s great for him to practice his stability.

Since this preserve was in the path of tornado-like winds the other year, there’s still tons of down trees, paths blocked and even more bramble that seems to be right at eye height. So Teddy got plenty of practice ducking and even had to crawl under some trees. He came away with no scratches and both eyeballs still intact, so that was a success.

We probably spent about an hour walking and covered about a mile, not bad for Teddy and the terrain and all the breaks he took to sit on the ground because he didn’t want to go any further (or he wanted to go the opposite direction). While I’d love to hike longer and further, this hike was so enjoyable because I went into it with no expectations and let Teddy lead our adventure for the most part.

He thought it was hilarious that he was running and sliding down a hill (with a steep cliff dropping to a river on one side), but thankfully he slid right into a tree that was downed across the trail. That stopped him and allowed me to catch up to him, giggling hysterically. (Him, not me, although I did chuckle after telling him he almost died.)

Although Teddy is persistent, he does fall pretty often. He doesn’t mind those falls and will often pick himself up and keep running without pausing. Yet he also took advantage of these breaks to munch on snow. I know many kids like to eat snow, but Teddy takes eating snow to a whole new level. He’ll eat it straight off the ground, scoop it up to eat it or lick it off tree branches. In fact, when he didn’t want to head back to the car, I kept scooping up the cleanest snow I could find to offer him “snow snacks” to keep going.

Teddy munching on his snow stick. Weirdo.

This was a great adventure with Teddy, and I’m grateful for afternoons like this.

Seizures Suck

Life with Teddy is a roller coaster of emotions.

My day started by waking him at 4:45 for a sleep-deprived EEG. This photo was taken while I sprinted after him as he explored the hospital before his EEG, with him collapsing in fits of giggles when I blocked the stairs every time. (There's a reason I wore running shoes.)

Teddy had to say hi to everyone.

The EEG was miserable. We hate seeing him so stressed, the wires fell off even without him pulling them, and it'll be a miracle if his doctor can make heads or tails of it. But he perked up the moment he got to leave and got over the stress much quicker than us.

Now he's tired and craby, understandably. Yet I just signed him up for Miracle Leaugue, which is guaranteed to be a highlight of our summer.

In case you're wondering why the EEG was needed, Teddy had his first seizures that we've observed in 3.5 years last week. The seizures came a week after the hives, yet something was still off with Teddy with him waking up screaming 2 nights in a row before we saw the seizures. It makes us wonder whether he's had other seizures that we missed. 

The good news is the seizures seemed to reset him to where he was back to baseline pretty much the next day. The bad news is that we had to squeeze in labs and this lovely EEG in less than a week before his regularly scheduled neurology appointment tomorrow. 

Morale of the story: seizures suck. Oh, and I apparently don't like roller coasters now that I'm an adult.