Rare Disease Day 2021

Note: I originally published this post in 2018. Rather than reinvent the wheel, I decided to simply update my 2018 post because it shares some great information about CDG.

The epiphany I had as I attended a Rare Disease Day conference for Wisconsin is there's different levels of rare. There's rare that's 1:40,000 odds like Pompe Disease that stands to benefit from early detection and treatment. Then there's CDG-PIGN, with less than 100 known individuals in the 7.6 billion world population. Early detection provides some answers for families but no clear treatment. That's why something like Rare Disease Day, to encourage all of us to learn about different disorders help. There's so little known about Teddy's diagnosis and so little interest in research because it affects so few people. Thanks for taking a few minutes to learn more about what rare means to us. 

In honor of today being Rare Disease Day, I'm giving you the rare opportunity to take a rare child off my hands for a few hours ... or days ... or weeks? I'm kidding, of course. Mostly. At least about the weeks part.

It's just been one of those tough weeks, but that happens sometimes in our world. Let's be real. Rare is tough. Rare is hard. Rare is full of unknowns. Rare is full of worries and fears. Rare is living through some of those worries and fears.

Wait, though. There's more.

Rare opens doors to worlds we didn't know existed. Even though I worked in Human Resources for a company that supports people with disabilities, I never completely understood it until it became my life. It's almost as if there's secret worlds that aren't secret at all ... we often can't see these other worlds because we're so blinded by our lives and priorities.

Rare is appreciation for the little things because they're not little things. Teddy traced a triangle last week. That's not little. That's monumental. 

Rare is knowing and experiencing the incredible support from family and friends. I'm certain that many of us have people in our lives who would drop everything or come to our aid if we needed it. We've been blessed to experience that support. Granted, I wouldn't wish the circumstances where that support was needed upon others, but it is a true blessing to experience that unfailing love and support. 

Rare is finding those incredible doctors, therapists and teachers who dedicate a portion of their lives to your child's success and well being. Talking to doctors at the National Institutes of Health who knew about CDGs was rare.

Rare is understanding you're not alone. The group of parents whose children share CDG-PIGN get it. They can provide advice, support, a listening ear or a story of something much worse that happened to them to provide perspective. This group gives me more sanity than they might realize.

Rare is understanding that a smile is universal. And the realization that a smile is what so many people need in our busy, stressful lives. And the gratitude that one of Teddy's gifts to the world is his smile ... even when he smiles with a mischievous twinkle because he's about to push your buttons.

Rare is our life because Teddy has CDG-PIGN. And since that's a confusing acronym, here's a short video that explains the CDG portion, even though it's a different variation of CDG:

Tracing Triangles

When I daydreamed about having children before we were blessed with our boys, I never could have fathomed what our reality would be. It's messy. It's chaotic. It's stressful. It's fun. It's unexpected. It's incredibly blessed. 

I never imagined Teddy and all that he brings to our lives. (It's pretty tough to picture something you never knew existed, at least when you're a concrete thinker like me.) Last week I was working on some school activities with Teddy, writing with dry erase markers on tracing patterns. I did hand-over-hand, guiding his hand along the lines and making fun sounds to keep him engaged. Then I asked him to trace the triangle on his own. I pointed to a corner and said, "Start here." I then pointed to the next corner and said, "Draw to here." We repeated that for the three sides and ended up with this.

The triangle was traced in purple, amid all the pink scribbles that are the norm.

Now, that might not look like anything remarkable to you. In fact, you might struggle to consider that a legitimate tracing of a triangle. In my eyes, though, that was an incredible accomplishment. It was the best tracing I've seen Teddy do with only verbal cues. He focused on the entire task and made something recognizable to me as a triangle. 

As I praised him, I cleaned the sheet to try again. The next time he did even better.

Look at that pretty pink triangle!

I could not believe his triangle. Teddy got hugs and high fives for a fantastic tracing job. I quickly snapped a picture before it was scribbled over or erased. First I text it to Dave. Then I shared it on Facebook. Then I e-mailed his OT and his teacher. Do you get the picture of how proud of him I was? 

The love and support for Teddy came through on Facebook and in replies from the messages I sent. We're so blessed to have so many in our lives rooting for Teddy and celebrating his accomplishments when they occur, regardless of when others achieve those same milestones. I know that tracing a triangle, when you're 7 years old, is not typically worth a second thought. But life without Teddy isn't typical. It's unexpected. It's a journey to discover what he knows, what he can do and, sometimes this is the kicker, what he's willing to do. That little boy can do so much more than we give him credit for because more often than not we can't coax it out of him. 

It's oh so frustrating to be Teddy's mom at times (and that's a feeling I get most days, at least for a few moments). But there's unlimited joy inside him, and that radiates out to others. There's also moments like this that we can see for the gifts they are: a reminder of how far we've come, an accomplishment to celebrate in the moment and hope for what will come. 

Snowy Giggles

Last night Teddy asked to go outside to play, so we headed out with a beautiful snow falling. My intention was to get the driveway cleared, so that it would be easier to finish in the morning. Teddy loves dragging shovels around, so I was optimistic I'd be able to get the driveway shoveled. None of the neighbors were out, and all their garage doors are shut, which was good because those are instant magnets that lure Teddy to them.

This was earlier in the day, before the snowfall. It was dark by the time we had snow.

Well, after about 5 minutes, Teddy thought it would be funny if he made his way to the neighbor's driveway. It took him several minutes because he was dragging a giant shovel and trudging through a couple feet of snow because he walked through the lawn. He was laughing the whole time, knowing he was being mischievous. I waited until he was close to heading up their walkway to go retrieve him and bring him back to our driveway. No sooner did I start shoveling again did he take off for another neighbor's driveway, laughing the entire way, with his shovel in tow. Once again, I kept shoveling until he got nearly to their door and then ran over to retrieve him. 

Fortunately, each time he willingly walked back to our house, instead of flopping to the ground like a 70-pound sack of flour. We headed back and resumed shoveling our driveway. He made a couple passes before he took off for a third neighbor's driveway. When I went to retrieve him that time, he was literally collapsed in the snow in a fit of giggles because he thought he was absolutely hilarious. Each time he'd fall, he'd eat the snow off his mittens or the ground, which is pretty standard for Wisconsin children during fresh snowfall.

He made it to a fourth neighbor's house before I tried to encourage him to bring out our garbage bin because it needed to go out for the morning anyways. He interpreted that as go to the neighbor's bin and attempt to drag it to our yard. That let me finish the shoveling, as much as I could, before I retrieved him one more time. That time the garbage can flipped and dumped a pile of snow in his face. I just chuckled and told him he deserved it. 

I had thought it was odd when we went out to shovel that there were footprints leading to our door, until I saw that someone's dog had traipsed through our driveway and around our house. I can only imagine what our neighbors thought with random shovel passes, lots of little and big footprints and flop marks. 

What I Miss ..

I miss driving the 45 minutes to my in-laws just to visit for a couple hours. I miss leaving the boys with them, so we can run a few errands without them in tow. I miss sitting on the couch drinking a mug of tea while the grandparents wrestle the boys. I miss the respite that comes from visiting them, no doubt.

But more than that, I miss watching the boys interact with their grandparents. I don't like hearing, "You've grown a foot!" I miss hearing what's going on and visiting with them. I miss watching them completely love our boys. It makes me sad that our normal family interactions haven't been able to happen for nearly a year. 

Yet, at the same time, I realize we can do better. Teddy is not perfect with mask wearing, but he is much better. That means we can do masked visits. That wasn't feasible in the first few months of COVID, and it's really only been the last couple months that Teddy's been able to get to that point. (Now, I know his masks aren't fully effective because he chews on them, they fall down, and they're covered in drool, but I'm pretty sure my in-laws don't do the same ...)

So, rather than be sad that it hasn't happened, we'll make it happen more often. Is it exactly the same with masks? Of course not, but it's better than not at all. We don't have that luxury with the cousins yet since they live further away (and are all in-person at school), but we'll get there. 

And, COVID can go suck it. 

Sensory Squish

Teddy needs a lot of sensory input, which is common for kids with PIGN. Whether it's their lower tone, their need for proprioception or something else in their wiring, these kids need to feel things in big ways. Think weighted blankets, big hugs, tight squeezes, as well as laying on the floor with feet up, rolling up in a yoga mat or other ways to ground the body. 

We learned about grounding techniques through music therapy and have put them into practice. When Teddy is particularly aggressive, sitting on AJ or pushing him, we try to redirect to these techniques to get him to settle down. We've seen some success with it, but we're in a rough stretch lately where Teddy just wants to boss AJ around, sit right on AJ, and be generally a little jerk to him. AJ ends up storming off in tears, and Teddy doesn't quite get why AJ doesn't want to "play" with him. I think honestly the two of them have had too much time together since they spend so much more time together without the normal structure of school or after-school care due to COVID. 

We also incorporate sensory into Teddy's other therapies, primarily as a reward. For example, at PT all he wanted to do with the mats was crawl underneath them, so now he has to "earn" squishes by doing sit ups. His PT will have him do a set of sit ups, and then we'll squish him a few times in between the mats. Then we repeat until he moves onto the next thing that catches his attention.

Knowing his love of all things sensory and squishing, we purchased a sensory body sock for him for Christmas. I actually had it before his birthday last year but figured it would be way too warm and didn't want him to cram me into it in July. Well, I was smart enough to wait until Christmas to give it to him, but I wasn't smart enough to buy a big enough sock to fit in there comfortably with him ...

See, we clearly both fit. It's not so bad ...

It took him a few weeks to warm up to it, but now he will routinely climb into his body sock. Or he'll make you climb into it. (So far, he's gotten his grandma, brother, both babysitters and mom in the sock ... not all at once.) And then he'll climb in, too. Let's just say I should have gotten a larger size. Both he and AJ fit in there with my mom, although I'm not sure how. My favorite was when I was in the body sock with him, and then he looked out at Dave and pointed to exactly where he wanted Dave to be inside the sock with his vocal demand, "Eh!" Dave politely declined, for some odd reason.

If you ever happen to visit and are socked by Teddy, the best advice I can give you is willingly climb inside first. Stay standing, and then help him climb in. That allows him to drop to the bottom by your feet, so the rest of your body isn't pummeled by his gracefulness quite as much. 

I suppose the best advice I could give you is to run away if you see Teddy coming toward you with something blue in his hand ...

... or is it? Definitely should have bought a bigger size.

Birthday & See Ya Later Celebration

This week we celebrated Ms. Sigrid's birthday, about a week or so early. She's been helping us out after school while she's teaching, but our new sitter started yesterday. Since we're not desperate for help, we are swapping risk by adding our new sitter to our circle and (temporarily) removing Ms. Sigrid. So, we wanted to celebrate her birthday and have an excuse to make a delicious dinner for her before she left.

We made green bean casserole, steak (because that's a treat particularly when you're in college), French fries and French onion soup stuffed shells. She bought into my idea for a cookie dough birthday cake to expand upon her request for chocolate cake. 

It's not a birthday without cake and singing!

We managed to celebrate with both of our sitters that evening because Ms. Sigrid picked a night that Ms. Bri is at our house because they enjoy sharing "war stories" of our children. I don't blame them. Teddy gets so excited when both of them are here together that he often can't figure out who to boss around. 

We enjoyed delicious food, if I say so myself, showed her the picture preview of her present that is still coming in the mail, gave her homemade cards, and Teddy even showed her a perfectly executed ballerina move. She's been working hard to teach him a new dance move that involves putting his hands on his head and spinning in a circle, but she's yet to see him fully execute it without her physically assisting him. He was being a ballerina during the halftime show, so she finally got to witness him complete the move with only verbal encouragement. 

Notice how she's carrying Teddy on her back. 

I love that we have such amazing people who are truly an extension of our family. Dave's birthday is next week, and I already told him the bar is much lower for his celebration. We'll miss Ms. Sigrid the next couple months, but we're already excited to see her again this summer when she comes back after student teaching!

Freundschaft

This month has been trying. Well, last month, since it's February already. Dave and I both have had work weeks from hell, we're juggling childcare and Teddy's been aggressive and mean toward AJ (more on that in another post). However, there have definitely been bright spots. One of those was my conversation this weekend with my friend from Germany, Marianne.

Marianne reached out to me via e-mail in 2019 after finding this blog when her daughter was diagnosed with CDG-PIGN. We instantly connected, sending e-mails across the ocean, learning about each other's lives and sharing our struggles and triumphs. Last year, we had planned to meet when my mom and I went to Germany and Spain. Unfortunately, that trip was cancelled as it was planned the week the United States went into lockdown.

The one positive that came out of those plans, though, was that Marianne introduced me to an app called WhatsApp that allowed us to text one another. We had planned to use it to connect when we arrived in Germany, but instead we've used it the past year to text one another, send pictures and whatnot. After two international zoom meetings in January, Marianne and I decided to schedule a "date" to video call one another through WhatsApp.

So this weekend, we spent more than an hour chatting with her excellent English (and my non-existent German despite 125 days of Duolingo practice). AJ got to give her a tour of the LEGO room, and Teddy stole my phone multiple times to smash his face to the screen and hold the phone up to his ear. It was so wonderful to actually connect that way and was the first of hopefully many actual conversations.

As a child, I always dreamed of international pen pals (back when you wrote actual letters). Now, thanks to my rare son, I have friends around the world. Those connections make our world smaller and make our days brighter. They share our burdens and our joys.