Diagnosis Day

Our lives changed forever 8 years ago. Teddy was diagnosed with PIGN-CDG, though at the appointment the name was Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1). Even though that name was a mouthful, I walked out of there with the name engrained in my brain ... apparently until this moment when I had to refresh my memory.

The diagnosis opened our world to amazing relationships through our PIGN family. We've met families across the country, shared tears and celebrated successes together. We've developed friendships with incredibly caring, accepting people from myTEAM Triumph. Either of these alone is life changing. 

Diagnosis Day 2015: So Little, So Cute

My goodness, he was so little. He was also so darn cute. This is when he thought he was worthy of being the doctor. This was also minutes before our lives changed. 

When we got his diagnosis, we were told he was the 15th in the world. It was overwhelming. That's why we have so much empathy for new families who are diagnosis. It may be 8 years, but we still remember exactly how it felt. 

We left that appointment with more questions than answers. We wouldn't even tell our families the name of the disorder because we didn't want them searching to find the 2 or 3 things that existed on Google. The reason for that is we didn't want them to see the life expectancy of 3 years when our son was already 2.5 years old. 

It took months to come to terms with this diagnosis. Honestly, it's still a journey because life with Teddy is a roller coaster. There's always going to be moments that bring all the feelings, which means we need to come to grips again and again with different aspects of his diagnosis. 

Diagnosis Day 8 Years Later: Not So Little, Still So Cute

But, hey, it's 8 years later. That 3-year-old life expectancy was blown out of the water (by Teddy and so many others with this diagnosis). We're so grateful for that! He's not so little, though I imagine in 8 years I'll look back at the pictures from today and think, "He was so little!" That passage of time is a blessing for which I'm always grateful. 

The photo from today is when Teddy thought he should have a sleepover with his grandparents. And gosh, he's still so cute! 

Life Keeps Us Busy

Life always seems to be busy, which is why there's some time between posts. Let's see what updates I have from the past several weeks ...

Broken Toe/Foot This healed well, thankfully! He got the all clear to spend some time barefoot at his final checkup. We were advised to have him wear his brace and shoe for most of the time to protect it through November to make sure it's fully healed. This was great news, though, because it allowed us to return to our own bed and allow him to sleep by himself for the first time in 2+ months.

School He loves school. He loves his friends, his teachers, gym, music, recess and pretty much everything about school except following directions or doing what he doesn't feel motivated to do. (Not that atypical for a child, now is it?) He got to venture to a wildlife preserve on a field trip the other week, and he was ecstatic to ride the bus!

Shoes Ugh. Buying shoes that fit over his AFOs is the worst. We've used Billy Shoes for several years, and we initially had really good success with them. But the last year, he's destroyed them almost faster than we can buy them ... certainly faster than we care to buy them. In fact, the last pair we got took less than 3 weeks for holes to be worn into them. We spent more than an hour trying on everything we could find (and suggested by the sales staff) but couldn't find anything traditional that fit over his AFO without looking like clown shoes. We finally ordered Friendly Voyage shoes, and we're optimistic. They seem to be good quality (as I'd hope they'd be for the price), and they fit on his feet like a dream. The only problem is we have to rig up something to ensure the zipper stays up because it tends to work its way open with all the movement Teddy makes, and he's stepped out of the shoe once. 

Halloween Teddy had a great Halloween, making up for missing last year due to COVID. He went to a fun Halloween party his friend hosted at a bouncy house and had a great time. We went to a neighborhood party, and he got to do the limbo and had so much fun, once he got over the different costumes. He went trick or treating as Handyman Hal and loved visiting everyone, plus getting candy. It's interesting because he won't let you carry his bag, and he's not the least bit coordinated, so everything spills everywhere. We resorted to frequently emptying his bag (after every house or two). Oh, he does not care for scary costumes at all. One house had someone dressed up as a decoration who then scared kids, and Teddy was done after that with anything that looked remotely scary or suspicious. 

And the final randomness in this post is that Teddy got a paint your own cookie to decorate (since his mom runs a bakery after all). Here's how it started:

There's already a bite out of it, but he's actually painting.

But within 2 minutes it evolved into this:

No further painting was done. Only eating.