Teddy's a fan of parks any time and any where. Dave, not so much. |
Teddy's Triumphs and Trials
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.
Monday, March 11, 2024
Monday Musings
Saturday, March 9, 2024
Springing Into Spring
It's been an unseasonably warm winter in Wisconsin, and that trend continues with an unseasonably warm and early spring. We all think Mother Nature is going to wreck havoc on our hopes (and unfortunately every living plant that has already started growing, not to mention all the critters out and about) with some wicked cold and snow yet.
But for now we've been taking advantage of the warmer weather. That meant last weekend we spent the day at our land with light jackets (or no jackets when hiking) enjoying the sunshine and fresh air. It was a perfect day for tractor rides for Teddy, an outdoor picnic, ranger rides, fishing for Dave and some small but fun hikes. In other words, it was simply a perfect day.
Teddy found the swings and invited me to join the fun. |
Aside from weekend fun, it's been busy here. We're on multiple wait lists for ABA services for Teddy, and that has come with a couple assessments. Most recently this week we had an assessment to start parent training, which is something one provider could offer as soon as next month until we can start services. (Wait lists for services range from summer to next January for the ones we're on, with plenty longer than that.) We're still praying and exploring and honestly waiting as we determine what therapy routes are best for Teddy.
We also did an assessment for speech therapy and are going to attempt outpatient speech therapy again, at least to finish out the school year. That assessment was really tricky, though, because Teddy freaked out at that part of the clinic, and I literally had to carry him into the room. I'm not sure what triggered him, but I'm nervous it's going to continue as we attempt therapy. If that's the case, we won't make any headway with therapy because he'll never settle and be comfortable. So we'll see what happens.
He's also in a program called Advanced Development Motor Program, a program that partners UW-Oshkosh physical education students as part of their curriculum with kids with disabilities to provide a fun program for them. It's essentially 1.5 hours of gym, so Teddy loves it! In the past he's had a consistent "teacher," but so far this year he's trained 3 different "teachers." It's really a neat program that we're lucky to be able to access.
Aside from that, our next big challenge is finding childcare for summer. I know I've talked often about our amazing childcare providers. Unfortunately, neither of them are available for the hours we need this summer, so we're back to the drawing board. I like to think of this as a chance for us to "adopt" another person into our family. Ha, we probably won't be that lucky, but please do wish us luck as finding childcare for Teddy is always a challenge.
Thursday, February 29, 2024
Rare Disease Day: 2024
Rare Disease Day is always celebrated the last day in February, and it feels extra special when it falls on February 29 because that's extra rare. It's a day to focus on rare diseases and raise awareness of them.
One of the common sayings you'll hear is Show Your Stripes. The reason is that often the medical community thinks of the most common diagnosis just as people most often think of a horse when they hear hoofbeats, for example. The challenge is to consider rare explanations as well, such as a zebra (or in Teddy's case PIGN-CDG). This year, I was on top of my game and created these little key chain cards to share with Teddy's team and classmates at school to raise awareness.
Another PIGN mom gave me the idea for these key chains. |
I time traveled this week, reading this blog post from 8 years ago in 2016: Teddy's Triumphs and Trials: Rare Disease Day (teddystriumphs.blogspot.com) This was 3 months after we first learned Teddy's diagnosis. In the past 8 years, so much has changed. To name a few of the most significant:
- Teddy's diagnosis is now PIGN-CDG, a more encompassing and accurate description than his original diagnosis of Multiple Congenital Anomalies-Hypotonia Seizure Syndrome 1 (MCAHSS1 for short because that's still not a mouthful.)
- Instead of knowing less than 5 families with this diagnosis and being the supposed 15th in the world, our .community has grown to closer to 100 with the diagnosis and their families.
- Teddy is now 10 and capable of doing so much more than we could have imagined 8 years ago. Not to mention, he's thriving and has made an outright mockery of the life expectancy (3 years) given in the first medical research papers.
- An Internet search of PIGN-CDG now yields 6,360 results instead of 3 for MCAHSS1 in 2016. Seriously, that blew my mind that Google didn't have results for our son's diagnosis.
Saturday, February 24, 2024
Daisy: The World's Latest Love Story
Daisy with her caregiver and friend. |
Sunday, February 18, 2024
For the Love of Sleep
Can you see his excitement? |
Groundhog's Day repeated. Still all smiles. |
Now if you're wondering if he napped at all either of those days ... nope. Not at all. He was definitely tired but powered through the whole day.
Sunday, February 11, 2024
Diagnosis Day 2.0
This behavior, laying on the ground after school, is one of those behaviors that challenge us. |
Tuesday, January 23, 2024
Shoe Sponsorship
Aside from the zipper, note the wear on the shoe. |