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| Not-so-little drummer boy. |
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, January 1, 2026
Naughty Versus Nice
Friday, March 24, 2023
Joy and Love
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| He buckled himself into the first one. |
Wednesday, December 28, 2022
Merry Christmas ... Better Late Than Never
Christmas has come and gone, and it's been weeks since I last posted here. We managed to have Influenza A run through our house, taking out Teddy, followed by Dave, then AJ with me on the tail end. Add in the business of bakery in the height of the holiday, plus our own holiday gatherings, and it was quite the December.
We wrapped up our illnesses and bakery baking the week prior to Christmas. We enjoyed a few holiday traditions: checking out Christmas light displays, decorating cookies, making our family favorites, spending time with Christmas and hanging out with Santa at every opportunity.
One of the joys of Christmas is Teddy's joy in Santa. He loves Santa. He gets so excited every time he sees Santa and loves to visit with him. Before COVID, he was just starting to come into his own with Santa, loving him from a distance but still wanting to keep his distance. He was fascinated by him, but he wasn't comfortable being close for any amount of time.
Now he'd spend all the time with Santa that he could. He asks to visit Santa again, even after his time/turn is done. He lucked out this season with 3 different Santas to visit.
We stumbled upon Santa at Cabelas and were able to sneak in for a visit, even though we didn't have a reservation. The picture turned out great, even though our boys clearly weren't dressed for a Santa visit. After our turn, Teddy asked to go back to see Santa, but he didn't get that second visit and settled for watching Santa instead.
He also got to see Santa at a Sibshop event. That's where he did get to visit Santa twice. He got his turn with Santa and freaked out with happiness. At the end of the event, when they were leaving, he saw Santa again and freaked out all over again. So he got a second turn to sit on Santa's lap, and he loved the second visit as much as the first.
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| More often than not, Teddy is looking and smiling at Santa. This is a great picture! |
He got to see Santa at the farmer's market two different times. Last but not least he got to see Santa at his last adapted gym class. Oddly enough, that Santa knew his name and that he's sometimes naughty at school ... perhaps because that Santa is married to his paraprofessional. He loves to visit Santa in every form and fashion, and we love seeing his joy in Santa.
What's interesting is that Teddy loves Santa because he loves Santa. He doesn't associate Santa with presents as best as we can tell. He just finds joy in Santa, and we find joy in that.
I hope you had a wonderful holiday season, filled with family and the joy of the season.
Tuesday, November 15, 2022
This is Joy
If you ever need to describe what joy, feel free to use this video as an example.
Friday, May 6, 2022
So Much Joy
We often hear how beneficial it is to live in the present, to enjoy the moments as we live them. It's not easy for many of us as the worries of tomorrow, the endless to-do lists and busy calendars keep us living in the present while always thinking about the future.
One of the blessings of Teddy's diagnosis is that he lives in the present. (It's only a curse when the present is absolutely horrible for him, as then he feels big feelings and is inconsolable and nothing distracts him, not even the promise of favorite things in the future.) He finds joy in such simple things that we often overlook. Whether it's the deliciousness of ice cream or the excitement of going someplace "new" like the doctor's office, he is simply happy to be alive.
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| The source of this joy and mess? Chocolate ice cream! |
When I can experience the world through Teddy's eyes, I can find more joy than with my own eyes. His joy eyesight is better than mine. And one of my favorite things is that he wants others to experience the things that bring him joy. If he's doing an activity or playing with a toy that he thinks is fun, he'll ask others to do it and then grin and giggle because he's sharing his joy.
Life isn't all sunshine with CDG, but Teddy's smiles light up a room even on the dreary days.



