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.
Wednesday, March 10, 2021
Non-Verbal Communication Misinterpreted
Wednesday, January 13, 2021
Winter Adventures
Teddy gets the undivided attention of our sitters this week because AJ is at his grandparents' house for a week of e-learning, Beast rides and card games. Our sitters take advantage of these week to spend a bit more time outdoors because Teddy loves being outside. This week Bri took Teddy to Waukau Nature Preserve, which is where we went for our Christmas Eve stroll.
She realized when she got there, though, that there was no way she could push him on the snow-covered trails in his chair. She realized she had a sled in the vehicle because they had also been looking for sledding hills, so they traipsed into the woods using the sled. Teddy was super chill hanging out on the sled, which is slightly surprising because he often wants to take off exploring. I think perhaps the woods was enough of a distraction itself and there were no docks, open garage doors, etc. to distract him.
I chuckled to see the sledding hill they found because it's a rather steep hill that curves and has plenty of obstacles on the sides. But they managed to safely navigate it several times and had a blast sledding in the woods and exploring there.
I'm not sure I'd have thought to take a sled for that hike, but it's definitely something I think we'll have to try this winter because they had so much fun! We're so grateful for our sitters who not only keep our kiddos safe but also give them such fun experiences.
Tuesday, January 5, 2021
The Return of the Beast
It's winter in Wisconsin, which means the Beast made an appearance (hopefully the first of several for the season). If you've read this blog for a while, you've likely seen posts each winter detailing the fun we have with the Beast. This past weekend, we headed to our land for a day of playing in the snow.
The drive was absolutely beautiful due to the heavy frost from the fog that covered all the trees in a blanket of white. We arrived to discover the deathtrap of a deer stand was blown over from heavy winds (and quite a few shotgun shells), so that pleased Dave. It's on our list to get that down and cleaned up, so that we don't have an additional hazard to tempt Teddy.
We discovered that our hill with the garage is perfect for sledding and tubing. The boys had so much fun playing with Ms. Bri, our nanny who came down to play for the day with us. AJ loved sledding with her while Teddy rode on his beloved Dorris (the tractor) with Grandpa.
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| We raced down the driveway, making the most of the tubes. |
My parents brought the Beast down for the day, so we all got turns riding on the Beast and trying to have snowball fights while driving and riding. It's tough to nail those on the Ranger with snowballs from behind, but we put forth a good effort. It's tough to say whether Teddy likes the Beast or the Ranger better, but I think he likes the option of both.
It wasn't a sunny day, but it was fairly enjoyable in the 20s. We needed all the variety of layers to keep switching Teddy into dry layers ... seriously, changing a diaper through all the winter clothes is a pain in the tush! Next time, we'll make sure we build a fire sooner for s'mores and additional warmth (although Teddy isn't one to stay near a fire to warm up without getting into trouble). We still managed about 5 hours of fun before heading home.
We're already looking forward to our next winter play day at the land. (And Dave is looking forward to his next opportunity to do some early season trout fishing!)
Monday, December 28, 2020
Merry (Belated) Christmas!
I hope you enjoyed a wonderful Christmas, Hanukah or whatever holiday your family celebrates. For us, our Christmas looked a bit different yet still was merry and magical. We missed the large family Christmas party and what a fun time the cousins will have when they all get together again in person! We got to see both sets of grandparents, although nerf gun battles while wearing masks is a bit interesting.
Christmas is full of magic for our boys, from our elf Bernie who visits for the season to the surprises from Santa under the tree. We were even gifted a kit to grow candy canes from seeds this year, which was so special to see. I'll tell you, there's something about a freshly grown candy cane!
Some of the magic is lost on Teddy, although he fully embraces the fun of opening presents. He seems to find that most exciting when they're not his and when he's not supposed to open them. We had to keep our gifts in boxes tucked in the back of the tree or they all would have been opened by Teddy. Yet, on Christmas Eve, he had no desire to unwrap his last present, so it stayed under the tree untouched.
Teddy, however, fully appreciates the time with family at the holidays. He was so excited to visit with both sets of grandparents. He jumped for joy to see them and then promptly dragged them off somewhere to play with him (often the basement). The best was that when Teddy wanted to go outside, he knew exactly who to approach. He got his coat and boots on and then went to grab Grandpa's hand. If anyone was going outside when it was 15 degrees, it was going to be Grandpa. He also learned that if he was dragging Grandpa to the basement to play, he needed to let Grandpa grab his mug of coffee first.
We were blessed to spend a bit of time with my grandpa, who is 98 years old. There's something so special to see him and Teddy interact. Neither of them listen (because one's partially deaf and the other is Teddy). Both think they are right no matter what. Both lack a concept of safety (because one's 98 and the other is Teddy). Yet that doesn't stop Teddy from hopping on Grandpa's lap, even when there's no room, or trying to push him down the stairs on his walker. (We put the kibosh on that one.) Teddy pushed Grandpa into the other room, and the two of them were in there alone arguing with each other over whether Grandpa would get on the floor. (As in, Teddy kept instructing Grandpa to get on the floor, and Grandpa kept refusing because we'd never get him up.) Teddy seems to realize Grandpa is not going to comply with all his wishes and instead climbs on his lap, pushes him around and shares toys with him. I love watching the two of them because they've both come so far from when my grandpa would ask me, "When's he going to talk? When's he going to walk?" Teddy's learned to do so much, and my grandpa has learned to understand Teddy even without a word spoken.
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| These two melt my heart (and crack me up). |
Despite some rather chilly days, we managed walks every day of the long holiday weekend. I absolutely love being outdoors, particularly in the woods, so those were highlights of my days. Teddy also could happily spend most of his time outside and seems to have little regard for how chilly it might be.
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| Everyone complained it was cold, but no one else would carry the portable heater. |
All in all, it was a wonderful Christmas. We're so blessed and grateful for our health, memories made and all the good of the past year.
Wednesday, December 23, 2020
Sitters and Semantics
I struggle to find the right word to define our childcare providers. I tend to lean toward childcare provider to give more credibility and professionalism to what they do, but sitter is a lot shorter. With the amount of time they spend in our home, nanny is also an appropriate word. The reality is they are an extension of our family.
We've been blessed with a number of amazing caregivers for our children in years past (Ms. Jenny, Miss Kaitlyn and Miss Melanie), but our reliance on and appreciation for our current two is at another level. Some of that may be the result of the pandemic and the need for tighter circles, but Miss Sigrid and Miss Bri are both incredible young ladies.
They take our crazy chaos and roll with it. They know that sometimes I'm more excited to see them when they arrive than the boys are because they ease our stress. We know the boys are completely cared for and in good hands, despite that occasional text that Teddy swallowed a nerf gun tip or fell down the stairs. (That happens with us, too!) They have done countless library or school pickups to save us trips and time out of our work days.
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| We joke that Sigrid is our oldest child, so she joined family photos. |
They spend countless hours playing imaginary with AJ and working through his moments of frustration when things don't go as planned. (That boy takes after me in that regard, and unfortunately life doesn't go as planned.) They encourage his creativity, help him with his handwriting and engage him in physical activity while making it fun (Wiii sports or games chasing around the house).
They shuttle Teddy to every appointment and actively work with him through therapy sessions and then report back to us what to work on at home. They even update his "school" list with new things to work on. They are his primary teachers this year, working on all his academic skills at home through the course of their play and some intentional school work time. They give Teddy his medications and both know how to respond should he have a seizure.
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| This was in 2019 when Ms. Bri made a Packers bike ride possible. |
With the weirdness of COVID, they've shared countless meals with our family and spent nights in our spare room to assist the next day (or to avoid their roommates in quarantine). We all enjoy each other's company during the meals, and another set of hands minimizes the risk of Teddy running off with a knife or something else dangerous or messy. They walk the line between playing with the boys and serving as an outlet for adult conversation for us.
The sound of Ms. Bri's laughter always makes me smile because I know how much fun they're having. Ms. Sigrid has hauled Teddy on bike rides throughout the summer, with AJ pedaling along side her. They've done nature walks, hikes and road trips. They've joined us for holidays and family photos.
They have made the pandemic better in so many ways, in all our interactions, their creativity, their safety awareness and their positive attitudes. They have made the pandemic possible by working the hours they do to allow us to continue working.
When we count our blessings, Ms. Bri and Ms. Sigrid are near the top. For Christmas, Ms. Sigrid gifted us with a photo of her and the boys, so we don't forget her while she's gone student teaching ... as if that's possible. These ladies will forever be welcome in our home.
Friday, December 18, 2020
Thanks to Variety!
Yesterday we got a package in the mail from Variety, a Wisconsin-based organization that supports families who have children with disabilities. Variety assists with everything from adaptive bikes to allow children with disabilities to just be kids. Variety also hosts a variety of activities to give these families a chance to enjoy different outings and activities that might not otherwise be available to them. Their goal is simple, according to their Web site: Enriching the lives of children with physical or developmental special needs and their families.
Last year was the first time that we joined any of their events as many are further away from where we live. But they hosted holiday gatherings throughout the state, with one near us, at local movie theaters. Our family was able to go to a movie, visit Santa (and creeper stare at him as Teddy is fascinated by him but not so sure about up close and personal) and got a few treats for the boys. It was a great experience, although predictably Teddy watched very little of the movie. He enjoyed himself exploring the theater, and it wasn't a bit deal that he didn't sit nicely the entire time. It was a welcoming and inclusive environment, which was so appreciated.
This summer they did summer picnic baskets, so we used that as an excuse for an outing to make the drive to pick up the goodies. The boys had so much fun with the treats, and we enjoyed a break from the usual pandemic routine.
The holiday gatherings didn't happen this year, but they offered Christmas goodie bags. We didn't want to commit to making the drive in case the weather was bad, yet they mailed a box of fun and goodies for both our kiddos to our house. We're waiting to dig into it until this weekend but are looking forward to it.
It's little things that make a big difference. Variety is less about the treats or goodies and more about the inclusion and acceptance.




