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.
Thursday, November 10, 2022
Long Walks in the Woods
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).
Thursday, March 31, 2022
Our Vacation In Pictures
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| That scrunchy nose gets me every time. |
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| Teddy loved the game room at our rental place. We all did. |
We spent the majority of our time at New River Gorge National Park, as we hadn't explored it yet. It was a great place to spend time outdoors exploring, and the weather was beautifully cooperative for this part of the trip. The river is the center of the park, and this was the day we were checking out the falls and rapids on the river.
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| Aren't we all so cute? |
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| Notice the semi-matching cameras for Dave and AJ. |
We gave AJ our old digital SLR camera on this vacation. We had talked about selling it because we don't use it, and instead we decided it would be a great opportunity for AJ. He absolutely loved it and commented that now he really was like Ansel Adams, his namesake. It also motivated him while hiking and exploring. Teddy, meanwhile, was motivated by adventure. The rougher the trail, the more fun.
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| I'm sure his chair was meant for this terrain ... |
I mentioned a few adaptations. The single best thing we did on this vacation was bring along reinforcements! Our wonderful childcare provider loves to travel and explore, and she was willing to tag along with us. She gets along fantastically with all of us and fits right into the family. I think she might need to join us for every vacation, especially considering she got Teddy asleep both nights in hotel rooms. Magic, I tell you, pure magic.
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| AJ loved being able to go off exploring with Bri. |
On our first day of driving, I mentioned that it was both a good and bad thing that I packed the backpack carrier for Teddy. I said it's a bad thing because I might use it, but it's a good thing because we have it if we need it. Well, we did need it. Teddy can hike remarkably well when he wants to, but he didn't want to finish a particular hike. In fact, all he wanted to do was run in the opposite direction, when there was a really tall cliff about 20 feet away. I carried him for less than a half mile, but it made the hike so much more enjoyable rather than trying to convince a child laying on the ground to move in the right direction.
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| One day he will be big enough to carry me. Hopefully he listens by then. |
We were fortunate enough to have hot tubs at our rentals. The boys did an afternoon dip, so that Teddy got to enjoy the experience. Otherwise, we usually hot tubbed while Teddy was going down for the night.
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| Teddy was excited to enjoy the hot tub. |
All of our kids, including our childcare provider, did the Junior Ranger program to earn their badges. Well, we did Teddy's booklets at most parks. AJ was really happy to add 6 badges to his collection, including 5 brand new locations.
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| This was the most official swearing in ceremony in front of the backdrop. |
After a few days of nice weather, we transitioned to much cooler and rainier weather. It felt appropriate for Fort Necessity, where they were in rain-filled trenches fighting all day. It also felt appropriate for the somber tone of remembrance at Flight 93 Memorial.
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| This is my favorite picture of Teddy from the trip. |
One of the most amazing parts of our trip was being able to connect with not one, but two, other families with CDG-PIGN. We had previously met one of the children 3 years ago when Teddy did his week-long study at National Institutes of Health in Maryland. It's amazing how much both of them have progressed in just 3 years! And then the next day we got to meet a nearly 2-year-old sweetheart, who took us down memory lane to when Teddy was that little.
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| Teddy spent Gettysburg pushing Alexa around, when we didn't put him in his own chair. |
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| This is Teddy giving his version of a hug to sweet Hayden. |
I felt better sneaking away for a couple runs because Dave had an extra set of hands to help. It's a good thing because the chairs we brought for Teddy weren't always meant for all the terrain, so Bri carried Teddy's chair up and down the stone steps on this path, but they got to explore a cool trail while I ran through Cuyahoga Valley National Park.
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| Everyone is happy, even me as I was dying running hilly trails. |
Friday, October 15, 2021
Not Normal Works for Us
For the past 2.5 months, we've had one of our childcare providers living with us. Her lease ended before she landed her teaching job, and she's been on a wait list for an apartment. Since school started, our other childcare provider has been living with us as well during the week. (She has an hour commute, so she stays through the week rather than driving each day.)
Honestly, it is so much easier to have extra hands around the house. Although they don't spend every waking moment with us (and those waking moments probably happen earlier than they'd like living in the basement with Teddy thumping around upstairs), it's so nice to have an extra set of hands to redirect Teddy at mealtime or to keep him from snatching fresh pain au chocolats when I pull them out of the oven. AJ loves having another person to play games with in the evening, and they both spent virtual time entertaining AJ when he was quarantining while his test results were pending last week.
Also, given that our social circle is so small with COVID, it's nice to have another person to go for a walk or run or bike ride. Or, since I'll never have daughters, I can even talk them into going to craft stores with me sometimes.
I know it's a unique living arrangement. It's a little odd that our one "daughter" is a teacher at Teddy's school, and the entire staff knows she's living with Teddy's family. But honestly, it works for us, and it works for them.
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| This kept Teddy out of the pain au chocolat while they cooled. |
I think we're all going to have a bit of withdrawal when our beloved houseguests move out. We've talked about gradually weaning ourselves, still with some family dinners or treats dropped at school. As much as they might miss the meals and tasty treats (perk of living in a cottage kitchen bakery), we're all going to miss each other's company. We'll start the adjustment period this weekend when one moves out to her new temporary place ...
Tuesday, September 28, 2021
Biking with my Boys
We absolutely love the chairs used by myTEAM Triumph that are made by Adaptive Star. We've used them with the group since Teddy was 2. (He turned 3 by race day, but he had a few practice runs as a 2-year old.) The chairs push wonderfully for running and are so adaptable. It's easier to push Teddy because he's relatively small, but it's feasible to push adults with relative ease.
Last year we were fortunate to work with Teddy's case worker to get our very own chair that we could use any time for running and biking. That was such a Godsend as it arrived right at the start of the pandemic. Teddy and I ran most weeks last summer, with AJ often tagging along on his bike. We went for family bike rides, and it was safe and enjoyable for everyone.
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| Teddy's chair will grow with him for years to come! |
The only downside of the chair is that it is so large that it's tough to take it to our land for a weekend with all the rest of the stuff we need. So at the land we haven't had anything beyond his Kimba Kruze, which has served us well. However, he's so tall that he can drag his feet and scoot himself all over the place (or just try to snap his ankles, I swear!). That chair also isn't quite designed for all the adventures we've used it for through the years, so it's a little tough on the trails and rougher terrain at the land.
So Dave ordered a custom-designed chair specifically for the land using our HSA (as it's a medical device for Teddy). This beauty of a chair has bigger tires for easier pushing over rough terrain, an extended carriage underneath to catch all the things Teddy drops (accidently and on purpose) and a higher clearance for going over bumps and hills.
Let's just say the first weekend we had it at the land we had extreme flooding. So we gave it a thorough test by wandering through the flooded fields that still had standing water, mud and the likes. And it pushed through without getting stuck, so we all got to enjoy the mud while checking out the flooding.
We've also been able to go for several bike rides, both around our land as well as at a really cool trail that's within an hour of our land. We've been to the Elroy-Sparta bike trail twice, as the boys really love the biking and the old train tunnels.
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| Teddy loves the dark, rainy tunnels with all the water dripping. |
We need to work with Adaptive Star to adjust it a bit as the wheels rub on the side of the frame, but we're so looking forward to the adventures this chair will allow our family to enjoy!

















