This is our family's journey with the rare PIGN genetic disorder Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1. When our son was diagnosed in November 2015, we were told he was the 15th documented case in the world. We've discovered more affected individuals since, but it's still an extremely rare and unknown condition since its discovery in 2011. Our hope is to create awareness of the disorder and foster a sense of community among those affected by the disorder.
Sunday, November 23, 2025
Halloween Hijinks
Saturday, November 11, 2023
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:
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| There's already a bite out of it, but he's actually painting. |
But within 2 minutes it evolved into this:
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| No further painting was done. Only eating. |
Monday, October 31, 2022
Halloween Creepy Crawlies
Whelp, the creepy crawly COVID virus found us this Halloween. After 2.5 years avoiding the virus (by taking rather extreme precautions), AJ came down with COVID a month ago. We isolated him to his room, sanitized everything and came away with the rest of us healthy. Fast forward a month, and Teddy came down with COVID.
His case came on suddenly, spiking a fever in the middle of the night. My gut instinct told me to check on him after debating for about 20 minutes. See, the tough thing with Teddy is that when he's awake at 3 a.m. and healthy, if you go in his room, he instantly thinks it's time to be up for the day and will not go back to sleep. But if he's sick, you need to check on him ... so it's like a game of Russian roulette of whether you make the right call. Given that his temp was 101.8, my gut instinct was right.
We went right to work on the medications and trying to sooth him back to sleep, without a thought that it was COVID. When it was more of a morning time, say 5:30 a.m. and he was up and ready to play once the medicine kicked in, Dave COVID tested him. The poor kid came back positive so fast that Dave tested him a second time, thinking he had done something wrong.
Nope, Teddy just had COVID. And by that time, he had already passed it along to Dave, who tested positive 2 days later. As of writing this, I'm still a negative Nancy, although I'm quite certain I'll be testing positive soon given the mild symptoms I have.
Trust me, we did our best to mask around Teddy, sanitize and such once we knew he was positive, but it's next to impossible given his lack of personal space, lack of comprehension, lack of personal skills (as in we get to wipe his nose or he rubs his snot on us as he flops on us - that's a favorite!) and don't forget the sneezes right into your face, even if you're wearing a mask.
The good news is that Teddy is several days in and doing well. We've worried about this for literally 2.5 years, and thankfully it's nowhere near the worst-case scenarios we imagined. (It gets old worrying about every little cough for 2.5 years, it really does.) He's hopefully past the fever stage for good and is not overly sick, although he clearly still doesn't feel well.
So we're getting lots of Teddy time, and it's interesting to see what runs through his little mind. The other day he gave Dave shoes to put on, ran and grabbed his swim bag and went to the vehicle. Dave still isn't quite sure where they were supposed to go swimming ... Today he did the same thing, except he grabbed a football. So they ended up running around with a football at an empty park.
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| He looks like he actually is playing football. |
The worst part - aside from the worry the first day with the fever - was that Teddy missed Halloween this year. It's his favorite holiday. It's not about the candy for him, although he does indeed love candy and wouldn't let go of his bucket last year once he realized it was full of candy. What he loves the most is that he's allowed, in fact encouraged, to run up to strangers' houses. It's the best day ever for him, and we love watching him bask in his glory. So it's tough to sit out this year, but the silver lining is that he doesn't realize what he's missing. And AJ got plenty of candy to share with the entire family (and he should hopefully be safe this time around since he just had COVID).
Tuesday, November 2, 2021
Halloween - the Best Therapy
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| Wendy with her beloved Peter Pan and his Shadow. |
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| This was the few moments Teddy was actually with the kids. I'm not creeping behind him. Oh wait ... |
Friday, October 29, 2021
Thursday, November 1, 2018
Happy Halloween!
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| So eager to keep up with the kids! |
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| So cute and so easy to redirect to the next house! |
Tuesday, October 31, 2017
Treats Instead of Tricks
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| Dorothy and her tornado. |
Teddy and I displayed our costumes at speech therapy, with me accompanying him as Dorothy. He was a tornado since he is a destructive force of nature. His costume held up the entire day without him destroying it, so perhaps I used the right amount of hot glue. His speech therapist loved his costume and completely understands why he was a tornado.
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| If you look closely, you should see a house in the tornado. |
I also had the opportunity to help clean up at AJ's classroom party in the afternoon, which pretty much consisted of opening a few snacks and being in the picture when AJ's teacher took photos of each table of students. He asked, "Can my mom be in the picture?" So as all the other parents intentionally backed out of the way to avoid being in the pictures, I had to jump right in, minion costume and all. (I had switched costumes for the afternoon since Dorothy with no tornado wasn't as cool as being a minion.
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| The tornado is on the move! No stopping him! |
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| LEGO Nexo Knight Clay (AJ) and Teddy the Tornado trick-or-treating. |
It was a fantastic Halloween, with our boys thoroughly spoiled by our neighbors with special bags loaded with treats for them and happy family memories. And trick-or-treating is much more enjoyable when you have full stomachs versus hangry adults. (Lesson learned last year.)
Sunday, October 15, 2017
There's a Storm A'Brewing (aka Halloween Preparations)
He's such a destructive force of nature that it's only fitting. (My other idea I got this year was a pinball in a pinball machine after watching him bounce off the walls, doors and people at AJ's school's pumpkin walk last night.) Since it's so fitting, I remembered my idea this year and put together his costume in less than an hour.
The irony of the fact that he'll likely destroy this costume the first time he wears it is not lost on me ... despite the oodles of hot glue holding it together and cars strategically placed where he wouldn't notice them immediately.
He's a force of nature to be reckoned with ... that's for sure. I'm just hoping this costume holds up through the afternoon at school that he can wear it again trick-or-treating in the evening without needing to do too much repair.
Now, the question is whether I am ambitious enough to go as Dorothy.
Monday, October 31, 2016
Happy Halloween!
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| One of the few pics of us in costume with Teddy's hot air balloon. |
Treats included:
- AJ telling us that they visited some old people, like grandma and grandpa, who gave them extra candy. (This was his version of telling us the sitter took them to the assisted living facility where she works to go trick-or-treating.)
- AJ's one grandma insisting he was referring to the other grandparents. So I asked him, "Old like which grandparents." His reply was "All of them."
- Trick-or-treating with friends who helped carry Teddy's bag to score lots of candy for him, too. Just because he doesn't talk doesn't mean he won't mow through Halloween candy.
- Teddy having a cool costume that got quite a few compliments, didn't require him to walk and get tired or be awkwardly carried and gave him built-in entertainment.
- Two sets of our neighbors having special goodie bags for our boys. As in, bags filled with coloring books, stickers and the like, along with oodles of candy.
- Dave taking pictures of the boys ... only to discover after they went to bed that there was no memory card in the camera.
- Teddy peeing all over while getting his diaper changed before bed.
- AJ's endless tears from over-stimulation ... one of the things I dread about holidays.
- Parents need to eat a good meal before they go out trick-or-treating. It would greatly help them take the tricks in stride better.














