The Return of Training Runs

Well, that caption is a bit misleading. MyTEAM Triumph (MTT) has been doing training runs for quite some time, with only a relatively short hiatus due to COVID. However, we only ventured out this summer for training runs while keeping our distance still. That means rather than sharing pushing duties with other angels, I'm responsible for pushing my lunk of a captain. (OK, he's the lightest captain at the training runs, but still ...)

Although I'm still responsible for pushing Teddy, we both get some socialization. We get to see our MTT friends. Teddy gets to venture into his beloved trailer. Seriously, the first training run we returned to he used a bungee cord to attach himself to the trailer. It's good for both of us. It's also a nice break for AJ and Dave to have some non-Teddy time.

The heat doesn't faze Teddy. It fazes me.

But I swear every Monday is the hottest day of the week. If you look closely, you can see Teddy's holding a squirt gun. We took along two squirt guns for Teddy. He spent much of his time squirting himself and drinking the squirt gun water. He did have fun squirting a few of the other angels and captains. He even managed to squirt me a few times, which was seriously needed. 

I doubt we'll make it back to events yet in 2021, but I'm crossing my fingers that next year we'll be back at events and at training runs every week. Until then, we'll enjoy the camaraderie from a bit of a distance. 

Relaxing Respite

Last week we had the opportunity to spend a few quality days with AJ. Between assistance from grandparents and our "adopted daughter" Sigrid, we were able to arrange coverage for Teddy. We headed north to the upper peninsula of Michigan to one of our favorite places: Pictured Rocks National Lakeshore. 

We've visited Pictured Rocks nearly every year since 2009. We've done the boat cruise to see the beautiful lakeshore from Lake Superior. We've hiked to a frozen waterfall in winter. We've camped in the traditional campgrounds. We've hiked 45 miles from one end of the National Lakeshore to the other end. It's absolutely beautiful and yet unpredictable. The weather can be amazing or it can be brutal. The water is usually freezing, but occasionally it's warm enough to truly enjoy. The stable flies can be merciless. The waves can be non-existent or they can be 10 feet high. 

Despite it's unpredictability, Pictured Rocks has grown increasingly popular in the past 5 to 10 years. We first discovered it when it was relatively peaceful, and now visitation has increased tremendously similar to other national park sites. In our words, it's gotten far more "people-ly," but we're still able to find our peace there.

This was our third year hiking and backcountry camping. That means we take everything we need for a couple days in our backpacks. We have done with when AJ was 6, 7 and now 9. He's quite the trooper for the 3.5-mile hike in to camp, especially with the promise of swimming and playing there. This year was the best yet, likely due to his age.

Still smiling on the hike out, although AJ was a bit weary.

We had perfect weather, water and bugs. We planned to bring in our stand-up paddleboard. All told, that meant an extra 12 miles of hiking (6 of those carrying the paddleboard). Although I can't say we'll do it every time, it was absolutely worth it. We were able to explore further along the coastline safely (given that AJ and I aren't strong enough swimmers otherwise). I am not built for cold water, so the paddleboard allowed her to play in the water with the boys. We were able to see the shipwreck by finding it with paddleboard. 

This was the cave that "burped" and tried to eat them when the waves kicked up.

As AJ collapsed into the water for the first time, he exclaimed, "This is everything I could dream of!" We tend to agree. 

As much as we wish we could bring Teddy to our favorite camping place again, it's just not feasible with his walking ability and the trails. We spent time contemplating how we might be able to get him in for a day trip. Honestly our best bet is to rend a pontoon boat, but then we need someone who's a boater to chauffer us. Any scenario that involves us hiking in is going to result in being exhausted chasing Teddy while there after the way in and way out.

And the reality is that both AJ and us need time away from Teddy. We love Teddy dearly, but it's a lot to be his brother and parents. It's a lot of patience. It's a lot of diligence. It's a lot of refereeing. It's a lot of pushing and shoving. It's a lot of guessing games. There's reasons that AJ likes the move Wonder. It reminds him of our life, probably including the line about life revolving around "the son." 

These few days allow us to enjoy each other. We can all have a bit of space, a bit of personal time and plenty of nature. We had a fantastic time and are already looking forward to next year.

Happy hikers enjoying Grand Portal.

Pure Joy

I've often said that Teddy lives in the moment, and he had some very joyful moments last week Thursday. We spent our first night in a hotel in at least 18 months. 

Some kids love hotels for swimming pools, like AJ. Others love the endless selection of shows on TV, like my enjoyment of the Food Network. (OK, most people now have access to so much media that this isn't exciting, but we have never had cable.) Teddy, well, he simply enjoys being someplace different that's not entirely Teddy-proofed.

From the moment he rode into the hotel on his chariot (the luggage rack), he was grinning ear to ear behind his mask. He couldn't contain his joy when we got into the room and immediately ran around exploring everything. He bounced on the bed. He laid on the bed and did his happy feet. He sat on the couch for a millisecond. He discovered there were holes in the wall and insisted that each of us try out each hole to see what we could see. He discovered the bathroom. He discovered the phone. He found the TV remote. 

Teddy loved the windows in the wall. 

He spent at least an hour bouncing around the room. We attempted to settle him for bed around 9, but he chose instead to perch on the air conditioner like a cat staring out the curtain into the parking lot. (He might have dislodged the cover on the air conditioner. Apparently it's not designed for cats the size of Teddy.) 

Teddy was channeling his inner cat.

He finally settled down to sleep by 10:30 p.m. without tears or screaming from any of us. He simply was too excited to lay still. He also stayed asleep until right around 5:45 a.m. For many people, that's insanely early. For Teddy in a hotel room, that's what we'd call a great night's sleep. 

We were both anxious about a hotel stay for multiple reasons, COVID being one of them. The reality is, though, that our biggest concern in hotels is always how Teddy will sleep. We've spent nights trying to get him to sleep until after midnight. We also have routinely been awake before 5 a.m., often on nights that he didn't fall asleep until extremely late. We also had that one morning when he woke up for the day ... at 2:30 ... in the morning. When you spend all your energy fighting him to sleep only to wake up insanely early, it's grueling. 

So in some ways, this was a test of the Teddy travel system. If we had a horrible night's sleep, we would have spent from now until our next trip dreading it because of the sleep struggles. I know one good night's sleep is not a guarantee of peaceful dreams for every night when traveling, but it gives us hope that with his development and the multiple medications intended to help his body rest at night, that vacations might be slightly less stressful.

And that, my friends, is a reason for sweet dreams. 

Happy 8th Birthday!

It's hard to believe that Teddy turned 8 yesterday. With COVID still a reality for our family, we didn't plan a party. On one hand, Teddy adores people and enjoys the attention, so he'd absolutely love a birthday party with all his favorite people. On the other hand, his birthday is just another day to him without all the anticipation that typically comes for a young child's birthday, so skipping a birthday party isn't emotionally scarring for him.

I probably suffer with more "mom guilt" than any suffering on Ted's behalf. That's partially because we didn't arrive home until 5 p.m. on his birthday because we were on a backcountry camping trip with AJ. Again, Teddy's birthday is just another day to him, so it's not like he was devastated we missed his birthday, and it was truly the only time we could secure the camping reservation. Plus, he probably had way more fun with his 1:1 time with his grandma and then a sleepover with his babysitter. 

Ted spent his birthday visiting the small local zoo, where he was fascinated by the lawn mower and the police handing out books more than the animals. He got Culver's for lunch and pizza for dinner, followed by a birthday cupcake that he had to share with his sitter who went above and beyond to make our camping trip possible. 

Then we spent today, the day after his birthday, together as a family. We visited our other sitter's lake house and spent the entire afternoon swimming, boating and chasing Ted as he attempted to get back on the boat. (He really loves boats!) It was an afternoon filled with food, water, and fun, all things Teddy enjoys. 

Amazingly, no one flipped on the paddleboard.

Next year we'll do a party for all our family, and Teddy will be more excited to see his people than his presents. This year, he'll continue to open the fun cards and gifts that arrive and spread out the fun of turning 8. 

We had fun whipping donuts in the paddle boat.

Mayo Clinic of Genomics

Today was monumental for our family. We visited the Mayo Clinic of Genomics for the first time. We spent 2 hours with a team of 5 people who not only know what Congenital Disorders of Glycosylation (CDG) are but have invested their lives into supporting families and research and development of treatments to improve quality of life.

Two months ago we thought the only CDG clinic in the United States was at Children's Hospital of Philadelphia (CHOP). Given that Teddy is relatively healthy, a consultation and trip there didn't make sense for us. However, at the World CDG Conference, I heard Dr. Eva Morava present and reference Mayo Clinic's work with CDGs. Within a week, we were scheduled for a consultation and asked to join a natural histories research study. (Interestingly enough, last month I learned another PIGN family in Canada is attempting to remotely participate in the same study.)

Mayo Clinic, with a nice mask reflection to remind us that COVID is still a thing.

Although I was excited for today's visit, I was also leery of the first portion because it consisted of an EKG and labs. If you've never had an EKG, it's an entirely painless test that should take literally a minute or two, probably a total of 10 if you count hooking up the wires and the stickers. Let's just say our experience took approximately an hour and required an extra tech because we needed 3 of us restraining Teddy. The removal portion of the wires and stickers was really quick because of all the practice Teddy had ripping them off when we were trying to actually do the test ... by then, he was a pro and ripped off most of them himself (aside from the one sticker that we discovered when we changed him into pajamas tonight).

From there, we headed to labs. They needed probably 10 vials of blood or so, along with a urine sample. For Teddy, that means attaching a plastic bag to catch his urine. That experience wasn't pleasant for Teddy and again required an extra tech because 3 is better than 2 for restraints. My apologies to Teddy because I'm the one who removed his collection bag ... and it was sticky, but oddly he wasn't fazed by that.

Once we got through the torture sessions, we were able to finally eat some breakfast (because they were fasting labs) before we actually saw his team. His team consisted of the nurse, who was only there for vitals, and then the genetic counselor, lead researcher, a resident doing rotations in the clinic, a dietician and a world-renowned CDG expert Dr. Morava. We had to move to a different room to accommodate the entire group because we met with them collectively. That had several advantages in terms of shortening our overall visit time because they collaborated for what they needed and allowed them to multi-task on doing Teddy's evaluation while Dr. Morava talked with us. 

Our visit lasted approximately 2 hours and covered everything from a refresher on Teddy's diagnosis to what's intended with the research study to concrete answers to questions we had, all while examining Teddy. While some people might be overwhelmed by 5 medical professionals in a room, with their genuinely caring personalities (and the fact that they weren't doing any procedures), Teddy instantly became his happy self. He was thoroughly showing off for the team, not necessarily showing tremendous fine and gross motor skills, but did he ever show off his charm! He was giggles, smiles, shenanigans (apparently he wasn't supposed to talk on the phone?), persuasiveness (as he directed exactly what everyone should do and where they should sit) and joy. He was perfectly content with all the attention and particularly enjoyed the fact that none of the team cared when he discovered the sink in the room. I'm not exaggerating when I say he washed his hands for at least 15 minutes straight ... if not longer. And he totally dunked his head under the water, too, so his hair was soaking wet.  

We received a couple educational materials, which is pretty cool to get Caring for Your Child with CDG and A Message for Parents of Children with CDG. Although we haven't had a chance to read them yet, I'm eager to and look forward to the digital versions to share with our other PIGN families. Seriously, to see anything in print on CDG just doesn't happen, so it's a wonderful resource. 

Dr. Morava also walked us through a diagram they're piloting for educational materials. Without her explanations, it's probably Greek to you. With her explanation, it helps us understand better Teddy's specific type of CDG. The more common CDGs like PMM2 affect the sugar blocks at the start of the glycosylation process. GPI-anchor ones like PIGN affect later in the process and prevent the final sugar block from attaching (see the left side of the middle part of the diagram). Since GPI-anchor disorders impact later in the glycosylation process, it is harder and more complicated to develop treatments. 

This is glycosylation. Makes perfect sense, right?

The key things they are working on are a blood test to concretely diagnose GPI-anchor CDGs. Right now, the only way to get the diagnosis is through exome sequencing, which is extremely expensive, time consuming and only provides the "likely pathogenic" mutations. In other words, it's not a confirmed diagnosis with a concrete test. They're working on a simple blood test that would allow correct diagnosis sooner, cheaper and more effectively. Also, that blood test would confirm that the PIGN mutations are pathogenic, that there's a GPI-anchor disorder.

That confirmation will pave the way for gene therapy. Gene therapy treatment is not in the immediate future, although she predicts it will be approved in about 3 years. That approval is not necessarily for CDGs, but once gene therapy starts getting approval, it will be relatively simple (her words, not mine) to transfer that knowledge to other genes. I'm extremely curious on what potential gene therapy might have for older individuals, but I didn't ask the question because the treatment isn't even developed yet.

But the exciting thing about working with this team is that we'll learn all these things. We'll know when there's new developments, what's happening in research and be a part of that. They look to collaborate with parents to make sure the materials make sense and that the work aligns with the needs. In fact, she mentioned the possibility of getting someone to research why CDGs present so differently in different people, the wide range of impact and the differences even among family members. That would be fascinating.

One of the things we asked about was the COVID vaccine because we've heard different things on how COVID and the vaccine may impact people with CDGs. Dr. Morava shared that they have patients with CDG who have been vaccinated and then evaluated for the effectiveness. She said that because of how CDGs impact immune systems that the vaccine is less effective. However, she said that GPI-anchor disorders are less impacted than other CDGs in terms of the immune system, so the vaccine should be more effective for a PIGN person than a PMM2 person. She still recommended the vaccine as it provides some protection but cautioned that it won't provide the same effectiveness level as the general population. This was good for us to hear as it means we'll want to ensure Teddy gets the most effective vaccine available, knowing that he won't get full effectiveness from it. 

I know this is a lot of information, some far more technical than usual, but I want to share it for other CDG families as well as for our own future reference.

The team was absolutely phenomenal. They genuinely were excited to spend time with Teddy and were absolutely fantastic with him. My mind is boggled by the incredible intelligence of Dr. Morava, yet the humility and ability to connect with both us and Teddy. (Teddy generally disregards COVID precautions, so he was hugging her while chewing on his mask.) I'm even more amazed that Dr. Morava is Hungarian, spent time working in the Netherlands and then was recruited by Mayo. How you can pronounce all these technical terms in one language, much less at least 3, is beyond my comprehension. Heck, I was just impressed that I can count to 10 in German after nearly a year of Duolingo ...

Oh, fun fact, the researcher is actually from Germany! I'm pretty sure that of the 5 people on Teddy's team, at least 3 of them were born in other countries. I'm so excited to have such a great team for Teddy to partner with his neurologist. We'll be scheduled to go back in a year for the study and follow up, but we now have a terrific resource where we can reach out should we have any questions or concerns.

Now, I just need to remember to share with ya'll in another post the excitement Teddy had about our hotel stay leading up to his appointments. 

Mutual Time Out

We spent this past weekend at home, which is a bit of a rarity for us in the summer months. Saturday was a perfect morning with the first farmers' market in 2 years, a bike ride and the boys playing independently while Dave worked on his school work. (Yes, school work in summer for my oldest child. Hopefully he has just a couple more months left.) 

Sunday, we attempted something similar to give Dave more time for school work. That didn't work nearly as smoothly. There was no farmers' market or bike ride. I wanted to get some baking projects complete and photograph them with a nice background. Teddy wanted to run around with my background, snatch my stuff and practice his comedy routine. His comedy routine includes scaling the back of the Tahoe, attempting to ride my bike while it's secured to the back of the Tahoe, pushing the riding lawn mower into the garage door (so strong!) and generally doing anything and everything he shouldn't do while giggling hysterically. Needless to say, as his audience, I wasn't impressed. 

I was ready to put Teddy in a time out in his room. I was beyond frustrated, yet I recalled my discussion with AJ the evening prior where I talked about managing our frustrations. After spending 30 minutes coaching him on how to manage minor frustrations that won't matter the next day, I felt like I needed to practice that skill. I was ready for a time out myself.

So, we loaded ourselves into the Tahoe, with a few more comedic antics that still weren't funny. We headed to one of our favorite trails and did an easy 4 miles. Well, that's a lie. It wasn't that easy because it was already warm, and Teddy is still a growing boy even with the ease of his chair. But it was exactly what we both needed: fresh air, time together when we weren't annoying each other, beautiful nature and some endorphins.

I'm so grateful that we have the ability to spend our timeouts running together.

See, running makes us happy!

The Perfect Movie Venue for Teddy

I mentioned in my previous post that we had another memorable experience during our vacation week at the land. We discovered there was a drive-in movie theater about an hour from our land. That became our memorable, in a positive way, experience. I realize in our life that I need to clarify that memorable isn't always a good thing. 

Now we've attempted a family movie once before, when it was sponsored by Variety as a sensory-friendly family show. We knew we wouldn't be judged if we had to walk Teddy in and out of the theater or if he was loud or otherwise disruptive. It was an OK experience, although Dave spent the vast majority of the movie walking through the lobby with Teddy as he had no interest in staying in the theater. That's similar to other movies he's attended for school field trips. We typically see 5-10 minutes total of the movie (broken up into very small segments).

The gates for the drive-in opened at 7, and we arrived at 7:15 or so. There was already a number of vehicles there, so we claimed our parking spot. That's when Dave looked up the theater on Facebook and realized that shows start at dusk, around 9 p.m. Now, that's obvious in hindsight, but it's been a long time since I've been to a drive-in theater (like a couple decades), and Dave has never been. So we had nearly 2 hours of time to entertain Teddy before the movie even started. 

This was how Teddy enjoyed part of the wait ... and the movie.

However, we were able to do that easily between playing in the Tahoe, literally running around the field/parking lot and taking multiple stroller rides to check out everyone else. There were, of course, a few moments I looked like a crazy person when Teddy was pushing his own chair and then abandoned it to sprint in a different direction. But, all in all, the wait was enjoyable.

Mother Nature gave us a beautiful show before Peter Rabbit 2.

We were very fortunate to attend during a community event night where not only was the show free, but we also got a voucher for concessions. So we had a plethora of food, which was also a good form of entertainment.

Teddy watched most of the movie from his chair while munching on popcorn. He even chose to sit on the blanket by me for about 5 minutes before he decided to move to a different spot. He spent part of the movie watching from the Tahoe, sticking his head out the top. And we spent just a bit walking in his chair while listening to Peter Rabbit 2. 

This was the first time our entire family actually watched the majority of a movie together at any sort of theater event. It was the perfect way to watch a movie with Teddy, as we all enjoyed ourselves. Even though the movie ended at nearly 10:30, Teddy spent the first 10 minutes of the drive back to our land giggling and bouncing because he had such a great time. Then he fell asleep without a peep and slept until we got back at 11:30 p.m. Dave carried him inside, we gave him his final medicine and he slept through until 5:48 a.m. So, I mean, he slept in about 5 minutes for staying up so late.

It was such a good experience that Dave has already scoped out drive-in theaters near our house. There's two of them, so we'll likely try another family movie this summer near home. Dave's already joked that we'd ask our adopted daughters to join us. (And Dave's folks for the drive-in that's between our houses. The more the merrier to wrangle Teddy if needed.)