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.)

It's Been A While

Well, it's been a couple weeks since I last posted. Aside from the chaos that comes with work (and trying to finish a PhD for David), we've been enjoying summer. We're still mostly living in our COVID bubble until the boys can get vaccinated, but we're working our way toward some normalcy.

For example, AJ attended art in the park through the rec department. Although he was one of only 3 students who wore masks because it was outdoors, he had a great time creating some masterpieces. He's looking forward to beginner archery in a few weeks. We recognize that he's been so socially isolated that he needs some interactions to remember how to conduct himself appropriately in public. (Truth be told, don't we all?) He has a play date tomorrow morning with both his best friends, and he's over the moon about that. 

Our boys have managed a visit or two to their sitter's lake house. They're eagerly awaiting later this week when they get to spend the day there, boating on the pontoon, swimming and perhaps even trying the jet ski. Can you picture Teddy on one of those? The best part is that both sitters will actually be there - one on the clock and the other simply because it's her family's lake house - so there's an extra set of hands. (Have we mentioned how lucky we are with our adopted daughters, as we call them? They even signed Dave's Father's Day card.)

We spent the past week at our land. Although it's not our typical vacation of traveling to different national parks, it allows us to safely enjoy nature and still get some rest at night. Let's just say our vacation 3 years ago was the catalyst for us looking for land to enjoy nature in a way that didn't make us all cry. Don't get me wrong ... I cannot wait to try that type of vacation again next year, but our land offers us outdoors, memories and reasonable nights' sleep. 

In addition to many projects while Teddy rode on the Ranger, hung out with Grandma or took tractor rides with Grandpa, we made some family memories as well. One of our family traditions each June is something called a dairy breakfast, where you literally go eat breakfast at a farm and enjoy all things Wisconsin dairy (milk, cheese and ice cream) plus pancakes and sausage. Last year, we missed that opportunity because of COVID, but this year we found a drive-through dairy breakfast that allowed us to safely enjoy our tradition. AJ thought we scored the jackpot because we got 12 ice creams for the 6 people in the vehicle! 

This was at the start of our hike, when he was extremely excited.

We also headed to Effigy Mounds National Monument. We visited there last summer, but the visitor center was closed due to COVID. It's weird how incredibly excited I was to see actual park rangers again and go inside the visitor center. AJ completed the Junior Ranger program to earn his badge, and I assisted Teddy with his. 

We attempted a family hike, where Teddy started out strong. But then he flopped to the ground and was unwilling to move. So we loaded him on my back, where he protested that mode of transportation. Eventually Dave took him back to the parking lot while AJ and I continued on. AJ and I had just finished the loop part of our hike when we discovered Dave pushing Teddy up the 450-foot switchback incline at the start of the trail. So we all got to enjoy the mounds together before tackling the accessible trail. Teddy walked much of the accessible trail, pushing his chair. That's his favorite mode to travel actually as it provides him just a bit of balance and allows him to maintain his sprint speed.  

This is the ideal way for Teddy to hike, as long as the trail has railings to keep him focused.

Hiking with Teddy has definitely become more challenging as he's rather opinionated and not easy to move against his will. We're getting something in the upcoming weeks that should assist for moderately accessible trails. More to come on that in the near future.

All in all, it was a good week at the land with quality family time, plenty of outdoors and a few really memorable experiences. There's one more that I'll share in a future post to spread out the fun and not overwhelm with pictures. 

Sliding Their Way Into Summer

Our boys started their summer this week with so much fun this week. Their one sitter took them to visit their other sitter. They spent the day playing at a lake, splashing and swimming in the water to beat the incredible heat wave and even boating. 

I got texts of videos showing the fun they were having. My reply was, "I'm jealous. That looks way more fun than work, as long as you are in charge of Teddy and I'm just in charge of mojitos."

It's such a blessing to have not one, but two childcare providers who are an extension of our family, who choose to spend some of their downtime hanging out with our family. Extra hands are always helpful with Teddy, particularly around water. He got to hang out on a boat, which he loves, and he got to spend time with two of his favorite people. AJ is ecstatic any time he gets to go to the lake. 

We're blessed. Now I just need to find a day to take off and enjoy mojitos while I watch them wrangle the boys. 

Memories

Today we got a glimpse inside Teddy's mind, into his memories. Or at least, without him being able to vocalize his memories, we have a really good idea even if we can't confirm it.

He was at the park today with his sitter, and he was super excited to see an ambulance there as the paramedics enjoyed their lunch break. His excitement was noticeable enough that they kindly offered to let Teddy take a look inside. I always love when people go out of their way to brighten other peoples' days, doing little things that make all the difference in the moment. 

Teddy was excited about the opportunity to hop inside ... until he looked around and freaked out. He began vocalizing, backed out immediately, hopped into his chair, buckled himself in and scooted away backward. 

Teddy's taken two ambulance rides in his life. He was sedated and intubated for the first in 2017, as it was a transport from Oshkosh to Milwaukee. The second was in 2019 from a Disney resort to downtown Orlando. He became alert during that ride, after his rescue medication kicked in, when he realized he didn't want to be there. Dave was in the back with him, helping restrain him with the paramedics and trying to calm him. Me, I was in the front seat, staring at a lot of traffic in downtown Orlando and listening to the driver agitated with others on the road who wouldn't give us the space we needed. In fact, we missed the hospital exist because some dimwit wouldn't move over for us, so we couldn't get into the lane to exit. 

Needless to say it was traumatic for all of us. I've had moments that dragged me back to the past, like my first time in the ER with Teddy after that trip. But for the most part I'm able to leave the past in the past. Apparently, though, Teddy still has those memories in his little mind. What was supposed to be a fun little adventure to check out an ambulance instead was a trip down memory lane to a time that traumatized him as well. 

It made me want to hug him extra tight and whisk those memories away. However, since Teddy lives only in the moment, he was already well past that. I snuggled him anyways and chalked it up as a little insight into his mystery of a mind.

Crazy in Love

That's either a song title or a movie, isn't it? It's also how I feel about Teddy. Some days he drives me crazy, and other moments I'm crazy in love with him. Just tonight, he was riding with Dave to mow the lawn, and I was push mowing at the same time. He looked at me and grinned with his mega-watt smile, and I couldn't help but smile and appreciate the moment.

Now, I realize he was grinning at the lawn mower, not me. He loves lawn mowers. But I still got to see that gigantic smile and appreciate his joy for life. That boy lives life to the fullest and lives in the moment. The good things are oh so good and rewarded with giggles, laughter and smiles that make you smile. Someone recently commented that his dimples are so big that they're visible even when he's not smiling. If he makes it to old age, he will have the best smile lines because he does that so often.

Of course, when he's upset, you know it. He feels everything in the moment and lives in that moment. There's no reasoning about the fact that supper is almost ready if he's melted onto the floor miserable because he wants to eat now. In that circumstance, the best thing to do is lay right next to him on the floor and snuggle into him. When you make that effort to connect with him, he usually can peel himself off the floor and out of that moment. 

We've often said how much we wish we could know what goes on in his mind at any given moment. Teddy's great at communicating what he wants, but his actual thought processes are entirely a mystery. Just yesterday, I watched him place his notebook and pen high on a shelf that he normally doesn't set stuff on and then run into the other room. I have no idea what prompted those actions and often wonder about the little things like that.

No wondering here. He is mesmerized by the tractor.

This has been quite the rambling post, but it's been a long day and a long week (mostly at work, not so much at home). I'm grateful for the times Teddy takes away the stress of other things by helping me live in the moment. It's only fair that he does that since he so often is the source of stress for us.