This is brilliant! |
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, April 26, 2024
Intentional Learning
Thursday, April 11, 2024
Final Elementary Concert
- Teddy wasn't included in the school concert his kindergarten year. It was one of those awkward questions of whether we should be coming to the concert as we hadn't heard anything. When we saw his kindergarten graduation and how he loved participating in the 3 songs at the program, we immediately decided there's no reason he couldn't join for every future concert. After conversations with his team, he was included in every single concert since.
- In the early years, Teddy needed someone right by his side for every moment. Each year, it seems like we've celebrated in whispers of, "Oh, look! He stood where he was supposed to by himself for 10 seconds ... 30 seconds ... a minute." That time has increased, and he's gotten much better focus.
- His dance moves now include his para joining in. This year he made her clap, dance and readjusted her because she wasn't standing correctly, according to the world of Ted. And through it all, she was smiling and happy to support him. This was actually the first year he didn't have his main teacher Mr. Skaaland supporting him (that I recall) because he was helping another student.
- He's learned to play the ukelele. Well, that might be a stretch, but he got to play the ukelele this year. He was sooooo darn proud. We've been talking about this for more than a week, and he was so excited about his concert and especially playing the ukelele.
- Everyone knows Teddy and roots for him. He literally got nearly a standing ovation from the 4th graders taught by Sigrid (our childcare provider who also happens to teach at Teddy's school). He had so many people come up to him afterward and tell him what a good job he did. He had friends come up and say hi.
Tuesday, April 2, 2024
House of Cards
That's really high, especially since he had Ibuprofen before bed. |
Monday, March 11, 2024
Monday Musings
Teddy's a fan of parks any time and any where. Dave, not so much. |
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. |
Monday, January 15, 2024
Winter is Here
Friday, January 5, 2024
IEP
It's been more than a month since Teddy's IEP, and I'm finally getting to recap it. His IEP is his individualized education plan, designed to support his needs, which requires meeting with his entire team at least once a year.
This IEP came at a perfect time, as it was shortly after his most recent bite from a fellow classmate, so we focused primarily on his safety at school as well as his integration with his 5th grade peers.
It was a full house for this IEP, with more people than any other time, even though we were a person short because Dave stayed home with a sick Teddy. (In an ideal world, Teddy would be a part of his IEP meetings to have his voice heard, but that's less than conducive. Trust me. I've tried it.) Given the issues we've been having, the principal joined the meeting, along with a student teacher there for the experience. Then it was the usual crew: his intentional teacher, his 5th grade teacher, adapted PE, OT, PT, speech, nurse, assistive technology and the special education team member. Let's just say I asked for introductions to refresh my memory as I only see nursing and assistive technology once a year, and it's a lot to keep track of.
I was pleasantly surprised with how the IEP started, as the team proposed a schedule that goes from about 20-40 minutes a day of inclusion to about 2.5 hours of integration. There was only one other opportunity for integration that I raised (thanks to my conversations with his 4th grade teacher, who happens to know him extremely well, about what might work). Instead of only morning meeting and music class, Teddy's new schedule includes breakfast, morning meeting, snack, social studies/science, lunch, recess, music, art and the occasional gym class.
All smiles for the first lunch in the lunchroom with 5th grade! |
Whew, that's almost exhausting to type, much less to be the paraprofessional supporting Teddy in all this integration. I know it's work to help Teddy integrate, and it won't be perfect. It won't work every day and every situation as planned. But the more time he spends with his 5th grade peers, the more he will model their appropriate social behaviors. He proved this last year by learning to raise his hand at appropriate times because everyone else was. The more time he spends in his intentional classroom with behaviors that aren't appropriate, the more likely he is to mimic those behaviors. Additionally, and most importantly to us, he doesn't get hurt in the 5th grade classroom whereas he's targeted in his classroom. (To be fair, he's targeted because he has no personal space bubble and doesn't feel others do either.)
It's been an adjustment to spend that much time transitioning, but it's been neat to see how excited Teddy was to spend more time in 5th grade. I'm not sure if gym has happened yet, but that was a neat bonus that his adapted PE teacher wanted to try without being aware of the rest of the integration discussion. This is particularly cool because it was initiated because Teddy has made so much progress in his skills (both physical and social) that his teacher feels like he could be successful in certain lessons.
Needless to say, we appreciate all the work his team puts in to make Teddy successful. It takes a village to support Teddy. We showed our appreciation by bringing them lunch for the first day back at school - subs, chips and brownies, homemade, of course. And how many people did we feed? A village of 17.
Plus a brownie his team gave Teddy because he asked so clearly and nicely.