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AJ didn't "throw away his shot!" |
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.
Friday, November 19, 2021
One Small Step Toward Protection
Sunday, November 7, 2021
Peter Pan Tried Flying
Ugh, this kid will be the death of me. Or the death of himself.
Apparently after being Peter Pan for Halloween, Teddy thought he should try flying in real life. He fell over the railing from the second floor or possibly the top of the stairs. He landed with a thud (that's obvious, right?), stunned for about 30 seconds and then started crying without moving. Talk about heart-stopping moments.
Yet within 5 minutes, he was done crying and moving apparently normally. That didn't change the fact that we determined it was best to take him in to get evaluated given his incredibly high pain tolerance and lack of communication. He was excited to go for a car ride with both mom and his babysitter in the middle of the day. He was still excited when we went into the hospital.
I'll be honest I felt a bit ridiculous telling the receptionist that he fell over the railing for two reasons: the fact that he fell over a railing itself and the fact that he was giggling and appeared perfectly fine.
(Sidenote: the ER won't tell you whether you should go to urgent care or be seen at the ER. However, urgent care will always take you down the secret passages to the ER when they determine you really needed ER services. When in doubt and not clearly a life-threatening situation, we should always try urgent care first. Of course, this was my third trip down that secret passage ...)
As soon as we went back into the ER, though, Teddy's demeanor changed. And the moment I tried to push his chair into the ER treatment room, he instantly began crying and actively resisting going into the room. We were quite the spectacle with a whole ER team ready to evaluate and treat Teddy, asking me what they can do to help. My response? "The only way he's going in that room is if we force him."
You see, that was the same room where he was intubated. Even though we thought he was out of it, he clearly has traumatic memories. I did manage to get his chair into the room and honestly don't remember whether I had to pull him from him chair or managed to get his chair into the room. (Let's just say we both have some traumatic memories from there.)
They quickly permitted me to have another caregiver present, so we got an extra set of helping hands. And we needed them and then some. I tell you, it was much easier to wrangle Teddy when he was smaller. I'm still larger than him, but he's on path to outgrow me much quicker than I can handle. I'm less concerned about him growing up than I am about not being able to restrain him for medical procedures and wrangle him as needed to get through days like this.
They decided on a chest x-ray but needed no further tests thankfully. It was challenging enough to get that one done even though it takes about a minute and is completely painless. From the moment Teddy went into the treatment room, he was crying non-stop. At one point, I was concerned he was going to throw up because he was crying to hard ... which would have then indicated a possible concussion when in reality he just hated being there.
Our nurse was able to get us to a private waiting room with a couple couches, chairs and kid table and chairs. It still took about 15 minutes, but he finally settled down and stopped crying. We rearranged all the furniture repeatedly, sat in everything, ate a snack and enjoyed apple juice. We waited there until they cleared Teddy to be released.
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We took off his mask when he was alone in the room and crying ... poor kid. |
Although Teddy was unfazed once we left, I know how challenging those visits are physically and emotionally on all of us. I wish that our childcare provider didn't have to endure the hour of crying and the feeling of helplessness when nothing calms Teddy. But I absolutely appreciated her help and calm demeanor as she bear hugged Teddy to get him out of his chair into my lap for the chest x-ray and helped redress him after he had an accident (while I was holding him, of course) and kept Dave updated.
And in related news, we have renewed our efforts to safety plan the railing. Teddy clearly didn't learn any lessons as he was trying to climb the outside of the stairs the next day ...
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 ... |
Friday, October 29, 2021
Tuesday, October 19, 2021
Inclusion by Invitation
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 ...
Friday, October 1, 2021
A Snapshot Series of a Weekend With Teddy
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Teddy is running away from me with a fly swatter. |
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Teddy is running to put wood on the fire, wearing my gloves. |
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Teddy wanted in on the cornstalk sword fighting that was happening. |
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This is the moon. This is how early Teddy wakes up. |
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At least the sunrises are pretty when they happen an hour later. |
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This is how I feel about the early wake up calls. |
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But he's so cute, and we still love him. |