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, February 9, 2022
He's Got a Knife!
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 ... |
Tuesday, March 23, 2021
Pants are Pointless
Weeks like this make me appreciate our childcare providers more than ever. I always appreciate them and try to tell them how much we love them and couldn't manage without them. But weeks that we're juggling childcare and work drive home that point. This is one of those weeks.
For example, I went downstairs to grab lunch today. In the living room, along with a wide selection of toys, I also saw a broom, a dustpan and an oven mitt. I found my husband in the garage, trying to free Teddy from his entanglement in his running chair with his leg trapped. I assisted with that and commented to Dave that he looked like he was facing a firing squad. His reply was that at least a firing squad would put him out of his misery.
I can relate. Yesterday afternoon I spent the better part of my afternoon trying to get Teddy to wear pants. Teddy can independently put on his pants, but he has to be motivated. Otherwise, we assist him in dressing. It's not a big deal, except when he's actively resisting. Then, the child remains unclothed. I didn't fight him for the first hour, simply ignored him as he sat pantless on top of the dining room table while AJ worked on his school work. I joked to AJ that in traditional school, at least he doesn't have pantless classmates sitting on top of tables.
However, when Teddy was miserable in the house, wanting to apparently do nothing except cause trouble or whine, I tried to get him ready to go outside. I'm pretty relaxed in my parenting style (as is evidenced by the pantless kid on the table referenced above), but pants are required for going outside.
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| Look at those angry eyebrows. |
I asked Teddy to put on his pants. I tried to assist him, to no avail. I used his talker to model how to use it to say, "You need pants." That didn't entice him to come by me, which normally he's so excited to use it that he cooperates until he gets his hands on the device. He chewed on his pants. He whimpered. He moaned. He cried. But eventually he put on pants.
Have I mentioned how much I appreciate our sitters?


