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| That's me and 6 ducks in a row! |
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.
Tuesday, September 30, 2025
Ducks
Monday, August 19, 2024
A Hiking We Will Go!
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| A beautiful scenic overlook (up the side of a Wisconsin mountain). |
Wednesday, April 27, 2022
Hiking is My Happy Place
Thankfully Teddy enjoys hiking as well, whether he's rambling on his own or riding in his chair. He's usually fairly content in his chair, as long as we're moving and he's not in a mood. The other weekend AJ, Teddy and I went exploring a local state park.
His chair can cover a variety of terrain, including even the sandy incline that was a pain to push through and up, but we made it. Unfortunately we may have been on a horse trail, which was fine until we got to the water crossing. It was narrow enough that AJ could jump it safely, as could I. But Teddy couldn't jump it without one or both of us going in the water. And I couldn't get his chair across the water without one or both of us getting soaked. And given that it was about 30 degrees (like every other "spring" day this month), water crossings where we got soaked weren't a good idea.
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| Two smiling faces and a dorky face for this photo. |
So we backtracked while AJ waited for us, which wasn't super long because it was less than a half mile (and down the sandy slope instead of uphill).
Nature is good for the soul, even with misadventures.
Thursday, April 7, 2022
Hiking with Teddy
- He doesn't have the stamina to walk long distances.
- His balance is still wonky, so he stumbles and falls frequently. This doesn't phase him, but sometimes he does get bumps and bruises from these falls.
- He's a strong-willed boy who doesn't listen well. Often he wants to go the opposite direction, or off trail completely, and just takes off running. This isn't safe, nor does it help us reach the destination.
- When Teddy doesn't want to walk, he will simply collapse and melt to become one with the ground. He's 70+ pounds of dead weight. Unlike AJ, who could be motivated to continue hiking bribing him with M & Ms, we haven't found anything that can consistently convince Teddy to resume.
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| He still loves going up. Honestly, so do I. |

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