Merry Christmas ... Better Late Than Never

Christmas has come and gone, and it's been weeks since I last posted here. We managed to have Influenza A run through our house, taking out Teddy, followed by Dave, then AJ with me on the tail end. Add in the business of bakery in the height of the holiday, plus our own holiday gatherings, and it was quite the December.

We wrapped up our illnesses and bakery baking the week prior to Christmas. We enjoyed a few holiday traditions: checking out Christmas light displays, decorating cookies, making our family favorites, spending time with Christmas and hanging out with Santa at every opportunity.

One of the joys of Christmas is Teddy's joy in Santa. He loves Santa. He gets so excited every time he sees Santa and loves to visit with him. Before COVID, he was just starting to come into his own with Santa, loving him from a distance but still wanting to keep his distance. He was fascinated by him, but he wasn't comfortable being close for any amount of time. 

Now he'd spend all the time with Santa that he could. He asks to visit Santa again, even after his time/turn is done. He lucked out this season with 3 different Santas to visit.

We stumbled upon Santa at Cabelas and were able to sneak in for a visit, even though we didn't have a reservation. The picture turned out great, even though our boys clearly weren't dressed for a Santa visit. After our turn, Teddy asked to go back to see Santa, but he didn't get that second visit and settled for watching Santa instead.

He also got to see Santa at a Sibshop event. That's where he did get to visit Santa twice. He got his turn with Santa and freaked out with happiness. At the end of the event, when they were leaving, he saw Santa again and freaked out all over again. So he got a second turn to sit on Santa's lap, and he loved the second visit as much as the first.

More often than not, Teddy is looking and smiling at Santa. This is a great picture!

He  got to see Santa at the farmer's market two different times. Last but not least he got to see Santa at his last adapted gym class. Oddly enough, that Santa knew his name and that he's sometimes naughty at school ... perhaps because that Santa is married to his paraprofessional. He loves to visit Santa in every form and fashion, and we love seeing his joy in Santa.

What's interesting is that Teddy loves Santa because he loves Santa. He doesn't associate Santa with presents as best as we can tell. He just finds joy in Santa, and we find joy in that.

I hope you had a wonderful holiday season, filled with family and the joy of the season.

 

Well, that was a Fluke ...

Nope, it was just the flu. And by just, I mean, influenza A kicked Teddy's butt. And then Dave's butt. And then AJ's butt. 

Gosh, this feels a lot like my post about COVID last month where I said that I was hoping I wouldn't catch it but felt the impending doom.

It's always tough to know what's wrong with Teddy, whether he's hungry, crabby or not feeling well. I got home late from work last week Wednesday, and he switched from happy to mopey instantly. Neither Bri or I could figure out what was up, and he even went upstairs to his bedroom alone while we ate a treat, which is unheard of. When I went upstairs to give him a bath and actually put him to bed, he snuggled into me and then promptly covered me in vomit. *Ugh*

The poor kid vomited a total of 4 times before morning, developed a fever and started coughing overnight. My gut told me it was the flu (since he just had COVID), and my gut was right. 

He requested a bath this weekend and made all the bubbles!

Given that Dave spent the night with him (and every night since then), it's not surprising that he went down over the weekend. And AJ and Teddy have no personal space boundaries, so both Dave and AJ tested positive Sunday morning. 

Thankfully Teddy was well enough to return to school today, and he was very excited for that! I'm also very grateful that Sigrid was willing to mask up and watch the boys a few hours Saturday afternoon while Dave and I took in Aladdin in masks since we had tickets (and I'm so glad we made it because it was a fabulous show!). 

One would think that between COVID last month and the flu this month, one would think we might get to stay healthy through the holidays. But I won't curse us, and I'll just keep washing my hands and waiting until well past everyone is contagious in my house before I come within 6 feet of them without a mask. ;-)

Tis the Season

It's beginning to look a lot like Christmas!

One of Teddy's favorite things about the holiday season is that we bring ladders into the house to decorate. And he loves ladders! He's gotten much better about safely coming down ladders versus simply letting us catch him. He's also gotten much better about taking turns, letting us actually do our work and then taking his own turn simply to play.

Teddy is part mountain goat!

More Christmas and holiday adventures to come!

So Much to Be Grateful For

Last week we celebrated Thanksgiving with Dave's family up north. We are abundantly blessed and it was (mostly) wonderful to have the cousins together. 

Teddy was a bit excited to be up north with his cousins. 

It's not easy taking Teddy places, even within our families where they know, understand and love Teddy. Most places, aside from our home, are not Teddy proof. There's breakable things, doors don't have all the locks and there's things simply not appropriate for Teddy. 

So visits other places require extra supervision, hovering like helicopter parents more often than not. Additionally, Teddy is, quite simply, a lot. He's a lot for us to manage and support, and he's a lot for his cousins because they're not used to Teddy barging into their space, perhaps stealing their food and playing in his way which sometimes means destroying their creations. 

The cousins spent quite a bit of time playing together wonderfully, and there were periods where minimal supervision was needed. There were also the stressful moments, the tears and the short tempers (me included as an adult). 

But Teddy had a blast. And AJ had a wonderful Thanksgiving. and absolutely loved spending a few extra days with his grandparents and hanging out with his cousins.  And we got to spend time with family and even enjoy a walk in the woods without chasing Teddy. Again, so much to be thankful for. 

Well-Deserved Recognition

We have spectacular childcare providers, and we've shared that throughout the years. We've unofficially adopted both Bri and Sigrid during the last couple years. Both boys adore these ladies, and Dave and I can't imagine life without them. 

So when AJ saw an opportunity through WisconSibs to nominate a caregiver, he nominated both Bri and Sigrid for the Sibling's Choice Award. He was ecstatic when both ladies were selected for awards!

A week before Thanksgiving we journeyed to Appleton to accept their awards, thinking it was a very information drop-in gathering. Well, it was a bit more structured and fancier than we expected with an official award presentation. We only had Bri with us as Sigrid was avoiding the last of COVID that we had running through the house (hence our masks). 

Most of our motley crew mostly smiling.

AJ and Bri both went to the stage with the leaders of WisconSibs for the awards. AJ even got asked a question and spoke to the entire audience to tell them a bit about his brother. He got a chuckle from everyone when he shared that Teddy has a kind heart and is a great brother, although he can be a pain at times. (Meanwhile I was chasing Teddy around the back of the room as he ran from place to place.)

It was really special to have both ladies recognized with plaques and to be honored for the amazing gift they are to our family. AJ was really proud, rightfully so, of them winning the awards based on his nominations, and he was excited to get a little gift of Christmas cookies to boot for nominating them!

This is Joy

 If you ever need to describe what joy, feel free to use this video as an example.

Diagnosis Day - 7 Years Later

 It's been 7 years (and 2 days) since we got the diagnosis that would change our lives: Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (which has since been refined to PIGN-CDG). Gosh, Teddy was little!

Diagnosis Day 2015

That diagnosis came after nearly 2 years of searching for answers. Every test came back normal or negative, yet the seizures continued and the developmental milestones went by the wayside.

That diagnosis changed nothing in terms of treatment for Teddy because there was no treatment (beyond standard therapies like OT, PT and speech and medications to control the seizures). Seven years later, there is still no treatment for Teddy's disorder.

What changed with diagnosis day, though, was that we slowly but surely found our small community of other PIGN-CDG families throughout the world. We celebrate the successes (however small to the outside world) of our children, and we mourn with each other every time we lose one of our children to the disorder. I've shed so many tears through the past 7 years for children I've never met in person, yet they hold a piece of my heart because they are like Teddy in so many ways.

And so, as we head into the giving season with Giving Tuesday 2 weeks away, please consider donating to the incredible research opportunity we have to hopefully find a treatment for PIGN-CDG: https://secure.givelively.org//donate/cdg-care/finding-a-treatment-for-pign-cdg/kerry-blondheim While there's no guarantee the science will work in our favor, this is the first time in 7 years that we've had any glimmer of hope for treatment.

And a huge thanks to all who've donated. If you're not in a spot to donate, please consider sharing this post with others who might.

Long Walks in the Woods

Well, we survived COVID with Teddy taking out Dave and me, in addition to himself. Thankfully Teddy weathered the virus with no complications and no seizures. Dave and I both had mild versions, especially me. And the weather was absolutely gorgeous, so we were able to take advantage of that for bike rides and walks on different trails. 

In fact, Teddy and I got in 3-5 miles walking several days in a row. We both enjoy the sunshine and warm weather, and we love to be outdoors. He seems to enjoy the trails with the woods and fields much more than some of our loops in town. 

All in all, we're very grateful things went as easily as they did. We all recovered well, and we didn't spread the nastiness to others. Thanks to all who checked in on us and offered assistance.

Halloween Creepy Crawlies

Whelp, the creepy crawly COVID virus found us this Halloween. After 2.5 years avoiding the virus (by taking rather extreme precautions), AJ came down with COVID a month ago. We isolated him to his room, sanitized everything and came away with the rest of us healthy. Fast forward a month, and Teddy came down with COVID. 

His case came on suddenly, spiking a fever in the middle of the night. My gut instinct told me to check on him after debating for about 20 minutes. See, the tough thing with Teddy is that when he's awake at 3 a.m. and healthy, if you go in his room, he instantly thinks it's time to be up for the day and will not go back to sleep. But if he's sick, you need to check on him ... so it's like a game of Russian roulette of whether you make the right call. Given that his temp was 101.8, my gut instinct was right. 

We went right to work on the medications and trying to sooth him back to sleep, without a thought that it was COVID. When it was more of a morning time, say 5:30 a.m. and he was up and ready to play once the medicine kicked in, Dave COVID tested him. The poor kid came back positive so fast that Dave tested him a second time, thinking he had done something wrong. 

Nope, Teddy just had COVID. And by that time, he had already passed it along to Dave, who tested positive 2 days later. As of writing this, I'm still a negative Nancy, although I'm quite certain I'll be testing positive soon given the mild symptoms I have.

Trust me, we did our best to mask around Teddy, sanitize and such once we knew he was positive, but it's next to impossible given his lack of personal space, lack of comprehension, lack of personal skills (as in we get to wipe his nose or he rubs his snot on us as he flops on us - that's a favorite!) and don't forget the sneezes right into your face, even if you're wearing a mask.

The good news is that Teddy is several days in and doing well. We've worried about this for literally 2.5 years, and thankfully it's nowhere near the worst-case scenarios we imagined. (It gets old worrying about every little cough for 2.5 years, it really does.) He's hopefully past the fever stage for good and is not overly sick, although he clearly still doesn't feel well.

So we're getting lots of Teddy time, and it's interesting to see what runs through his little mind. The other day he gave Dave shoes to put on, ran and grabbed his swim bag and went to the vehicle. Dave still isn't quite sure where they were supposed to go swimming ... Today he did the same thing, except he grabbed a football. So they ended up running around with a football at an empty park.

He looks like he actually is playing football.

The worst part - aside from the worry the first day with the fever - was that Teddy missed Halloween this year. It's his favorite holiday. It's not about the candy for him, although he does indeed love candy and wouldn't let go of his bucket last year once he realized it was full of candy. What he loves the most is that he's allowed, in fact encouraged, to run up to strangers' houses. It's the best day ever for him, and we love watching him bask in his glory. So it's tough to sit out this year, but the silver lining is that he doesn't realize what he's missing. And AJ got plenty of candy to share with the entire family (and he should hopefully be safe this time around since he just had COVID). 

School Blessings

We are so fortunate to have Teddy’s 4^th grade teacher be Ms. Ellingson. You see, Ms. Ellingson is our beloved childcare provider, otherwise known as Siggy.

She was Teddy’s paraprofessional in the 2019-2020 school year while she was in college. Her college scheduled didn’t align with the paraprofessional schedule, so she switched to subbing only that spring semester. At that time, she asked if we could use childcare occasionally, and I immediately jumped at that offer before she even finished her sentence.

And then COVID happened, and she became our saving grace to get us through the rest of that virtual school year. She became truly part of the family when we saw her and not our own families. She celebrated that first COVID Thanksgiving with us, has lived with us in between her apartments and is very much family now.

Although Teddy struggles with boundaries with her at school, realistically he struggles with boundaries with everyone at school. It’s worth it, though, to get the extra insight into his school days. His regular teacher does an incredible job communicating and sending notes daily, but there’s only so much you can share in a quick note for every child. Siggy can share with us what happens in Ms. Ellingson’s class, the ways Teddy interacts with his peers, how they accept him and interact with him and his successes (and struggles).

Evidence of boundary issues at home with Siggy.

For example, we know that when Teddy is in his 4^th grade classroom for science lessons, he may start at his desk with his paraprofessional. But when he gets squirrely, he walks around the classroom with Ms. Ellingson checking out the other students’ projects with her. I think that he gets so many more opportunities to interact with the support of his paras and the tolerance of Ms. Ellingson who knows what to expect from him and his peers when they join her classroom.

We’re dang lucky. Actually, we’re blessed beyond measure in this regard.

A Pleasant Surprise

Several weeks ago, we received a denial from our health insurance company for Teddy’s adapted stroller. We started this process back in March and had to jump through multiple hurdles to even submit the request to both our insurance company and Medicaid, as Teddy is covered by both.

Back then, we were told it would be unlikely to get approval from Medicaid because they are very reluctant to approve strollers because they are more expensive than traditional wheelchairs. Generally speaking, Medicaid is the harder one to get approvals. My least favorite thing about dual coverage is that for all therapies both insurance companies must approve the services … and we get the lesser amount of visits that is approved.

Anyways, I was quite surprised last week to get a voicemail that Teddy’s stroller was approved. I was certain that when United Healthcare denied the stroller that we were out of luck. When I spoke to the lady, she indicated that Medicaid had approved it. I commented that I was expecting it to be denied by Medicaid, so I was surprised. She said, “Well, thank goodness for Medicaid.” I responded that I bet she didn’t often get to say that. She laughed and said that it felt weird to even say that.

So, we’re tentatively set with a delivery date of January 6—so we are celebrating the Epiphany with a much-needed chair next year!

Shared Sorrow

A week ago, we lost one of the children in our PIGN group. It's odd, in ways, to have such a visceral reaction to the death of someone you've never met. Yet I know the other PIGN families feel the same way. We love and care for each of the children in our community because we have a connection that spans language differences, countries and cultural differences. There are literally families around the world grieving and praying for this family.

Her death hit me especially hard because this little girl is right around Teddy's age. They had the same wonderful smile when we first met this family virtually. Yet she was far more severely affected, and the seizures caused such regression for her. Her family loved her fiercely, prayed for wisdom to make the best decisions for her and did all they could to ensure she had the best quality of life possible.

What amazed me, time and again, was this family chose to embrace this diagnosis. They adopted their sweet daughter, not knowing her diagnosis but knowing full well that her life would be like a rose ... beautiful yet painful. As much as I love Teddy, and I do, I can't imagine choosing the challenges that come with the blessings. And, yes, there's so much joy, connection and grace that we'd miss, so I'm glad God knew best when he blessed us with Teddy.

Teddy is currently quite healthy, yet there's never any guarantee with these children with PIGN. Although he could have a medical emergency, and we fear seizures the most, the reality is that his greatest threat is his lack of safety awareness and love of all things dangerous. It's no secret his guardian angels get quite the workout. (Yes, I said angels. There's no way that child doesn't have multiple angels keeping him as safe as he is.)

There's really no point to this, other than sharing our grief. We all know the saying that no parent should bury their child. The unfortunate reality is that a disproportionate number of parents do bury their PIGN children. There is no cure, and there's no treatment. 

So, we shall continue to support one another. And we will continue to fundraise for exploratory treatment in hopes that we, collectively, can give exactly that to one another ... hope that we will stop burying our children. If you want to make a donation, you can do so here: CDG CARE (givelively.org)

A Joy Beyond Words

 

Happy Birthday AJ!

When Teddy was born and AJ first met him, AJ's first comment was, "Uh-oh!" He couldn't have been more right in his prediction about Teddy, but Teddy couldn't have been blessed with a better big brother than AJ.

AJ has always been a helper, even when he was 2 years old and Teddy was a newborn. I'll be honest, his helping skills have greatly improved through the years from the time he "helped" by pulling Teddy off the chair onto the floor because Teddy woke up from his nap ... at 4 months old. Well, that explained the thud I heard.

Now AJ helps by taking Teddy for ranger rides at the land, watching him for short periods while I'm otherwise busy in the house and playing with him as brothers do. He continues to talk about how he'll take Teddy on ice cream runs when he gets his driver license.

AJ is a super big brother!

This kid endures (yes, that's the right word) more than most do. Although most siblings bicker and fight, Teddy constantly gets into AJ's business, occasionally breaks his things and physically pushes, shoves and sits on AJ when he gets in his moods. Yet that doesn't change AJ's love of his brother - or his desire to raise awareness of PIGN-CDG - or his desire to fundraise to explore treatment options. 

AJ's a super special kid with a huge heart. Happy birthday dude!

Happy birthday dude!

Respite - For Fun and Necessity

Respite. According to Oxford Languages, respite is, "a short period of rest or relief from something difficult or unpleasant." I guess parenting Teddy counts as something difficult, at least a portion of most days, so we do have respite built into our care plan for Teddy.

Respite is intended to give us a break from being the primary caregivers for Teddy. In an ideal world, we'd use our respite time to do amazing things together as a couple or with AJ to give him some dedicated attention. (So ideally we'd use respite to go to Pictured Rocks ... that's an ideal use.)

The reality of life is messy, though, which means respite isn't always used because we simply can't coordinate or juggle the hours with a provider. Or in the first years of COVID, we went nowhere and did nothing, so there was no place to go. 

Although I'd love to use respite for date nights and fun adventures with AJ, sometimes it simply allows us to do the things that other families can do. The other weekend we used a bit of time while Sigrid occupied Teddy, so that I could catch up with an old friend from Spain while Dave fished. Simple things that wouldn't require respite for most families, but it's impossible to have an in-depth conversation while supervising Teddy. 

This past weekend, we used a couple hours of respite to go to church (and not even our own church, although I've thought about that and probably should do that). Our goddaughter was being baptized. My friend assured me Teddy was welcome, yet I knew we'd spend the entire time literally wrestling him and make quite the spectacle of ourselves. When I saw the giant cattle watering tub for the baptisms, I was convinced we made the right call. I can guarantee you Teddy would have baptized himself several times over before the service was over (or possibly even started).

So while it's not the most glamourous use of respite time, it allowed us to be present in those moments. That makes it worthwhile. And, yes, church with Teddy is both difficult and unpleasant, so it does fit the definition of respite. 

A Boy and His Bus

It's no secret that Teddy loves buses. I've written multiple times about his bus ride adventures, from city buses to big, yellow buses for field trips. But he also had an incredibly special bus encounter that I want to share.

Teddy's former bus driver has made it into blog posts multiple times, including the aptly named Best Bus Driver Ever post. Through the 2.5 years she drove Teddy, we developed a friendship. She fell in love with Teddy's giggles and infectious smile, and we so appreciated her care and love for Teddy. We never worried when Teddy was with Ms. Lori. We loved the updates she sent us and always tried to make sure she knew how special she was to our family (and not just because she took Teddy away from the house for several hours each day). 

When COVID struck, Ms. Lori got her CDL to drive big buses (as she always transported Teddy in a mini-van) with us rooting for her. She transferred to a different city's routes, which wasn't too traumatic for us because Teddy wasn't being bussed due to COVID and our weird hybrid schooling situation. (Trust me, it made this school year harder when he went back to school finally.)

We stayed in touch, though, meeting for walks, masked visits in the early days and plenty of treats door dropped to brighten each other's days. I have often told her that Teddy's dream would simply be to have a bus of his own.

And this summer, she made that dream come true for an afternoon. 

Ms. Lori worked her magic to borrow a bus and showed up in our driveway this summer. Teddy was bouncing up and down and couldn't even stop to say hi as he bounced onto the bus. He spent the next hour living his dream, making all of us (AJ, Sigrid our sitter, Ms. Lori and I sit where he wanted us on his bus, buckle in and take turns driving. 

Teddy ran a tight ship, though, and made us follow his rules. His rules included the door could not remain open, even though it was almost 90 degrees. Every time anyone opened the door, he had to scoot to the front to shut it. Thankfully he at least let us open all the windows. 

These two adore each other. :-)

It was such a simple thing, although it required some effort on Ms. Lori's part to make it happen. Her gift of time and effort was the highlight of Teddy's week and was a special day that we all will remember for years to come.

Can't you just feel his joy!?!?

These gifts, ones of time, energy and presence, are the ones that truly make all the difference in the world.

Thank you again Ms. Lori!

Back to School: Post-COVID (Even Though It's Still a Thing) Integration

We’re officially into the second week of school. This is the sweet spot, past the anxiety and work that goes into preparing for a school year, where I can actually enjoy the peacefulness that happens at 7 a.m. when both kids are on the bus.

Every parent knows that back to school involves shopping for new clothes, school supplies and perhaps emptying out last year’s backpack that you reminded your child to empty 3 times back in June. Wait, is that just me?

But as Teddy’s mom, there’s some extra work that goes into preparing for school. Off the top of my head, these are some of the things that I had to cross off to make it to this point:

1. Call the special education office back in June to make bussing arrangements. This was above and beyond the simple form for bussing that’s required for all students because apparently they can’t ask all the right questions to eliminate the need for extra work.
2. Complete a seizure plan. It’s the same plan as every year, but I need to write out the instructions every year.
3. Review the associated paperwork for the seizure plan.
4. Complete 3 separate medication forms that must then be signed off by his doctor’s office.
5. Make sure all those medications are properly packaged and not expired. (Whoops, I sent an expired bottle of Ibuprofen and had to redo that step.)
6. Resign the medication form that went missing between the doctor’s office and the school nurse’s office.
7. Call the bus office at least twice to confirm that his pickup time is accurate, he has the right supports on the bus and verify the supposedly 1.5-hour bus ride home.
8. Call the special education office after the e-mail that special education students need to work through that office for any bussing question. Still learn nothing beyond what is in the system.
9. Write a letter to his bus driver to help them understand Teddy since they know nothing about him yet are responsible for him almost 2 hours a day.
10. Coordinate with his teacher to get his therapy services resumed. This means we need an IEP meeting.
11. Facilitate communication between outpatient therapy and school therapists to update them on progress and potential goals.
12. Meet with the new speech therapist to give her an overview of Teddy, so she can assess him and develop IEP goals.
13. Pack traditional school supplies like notebooks, markers and headphones, along with a supply of diapers, wipes and extra clothes. (I’m just now worrying and wondering if I actually packed the extra clothes …)
14. Do Get to Know You Conferences with not 1, but 2 teachers to make sure we’re on the same page. Emphasize multiple times the safety plan for him that will keep him from eloping … again.
15. Worry. Pray. Worry some more. Hope for the best.

And the transition this year was actually remarkably easy in many ways because his primary teacher has been the same since 1^st grade and his classroom teacher is none other than our beloved babysitter. (Thank you so much, Sigrid, for advocating to have Teddy in your classroom! This makes the transition so much easier because we’re not educating someone new all about Teddy in 15 minutes.) The bussing was the only real unknown component, and that came with the excitement of riding a real bus for the first time since kindergarten. Let’s just say that he’s so excited to get on the bus each day that it involves jumping for joy and then literally running onto the bus.

One of Teddy's real-life angels. She checked on him and sent me photo evidence.

Now that he’s at school, we get to hear the progress and the positives. All that’s left for me to do is continue to worry and pray because we’ve avoided COVID for 2.5 years. Now we have two kids unmasked in school all day … so every cough will make me cringe and anxious. 

Simple Joys: Bus Rides

 One of Teddy’s favorite things in the whole wide world is busses. (Other favorite things include tractors and water slides.) Earlier this year he won a free bus ride pass, which might seem like an odd prize for a 9-year-old like Teddy, but it was a great opportunity for a fun adventure this summer. His sitter took him to the bus station, and they simply picked a bus to ride for the entire route. He was so excited to actually get to ride the bus. I say that because he’s excited to simply see a bus and watch them at the bus station.

Teddy invited (directed) Sigrid where to sit.

They rode the entire route, and then they switched buses for another loop. Although Teddy is usually a constant bundle of energy and motion, he was content to stay in his seat the entire ride. He did check out other seats when the bus stopped, but he always went back to “his” seat for the ride.

They both had a great time exploring together!

It was such a simple, fun adventure that he got a bus pass for his birthday. His grandma has already taken him on several rides, and he is just as excited each time. He doesn’t need a destination, just to ride a bus.

Teddy was in his happy place. 

Teddy's Favorite Bedtime Buddy

Teddy has a penchant for driving his parents crazy. (Don't all children, though?) Behind that silly smile and goofy antics is a little boy who tests every possible limit, doesn't listen and wears on our patience at some point in every day. It's just life with Teddy where you love him dearly but still ...

But at bedtime, he becomes this sweet snuggler. Dave has often said it's his favorite time to spend with Teddy because he's so snuggly and sweet and not trying to dictate your every move. (I prefer early mornings when he's full of giggles, smiles and ready to rock the day.) At home, we try to have him fall asleep on his own after stories and snuggles, but at the land one of us needs to stay by him as the bunkroom isn't Teddy proofed. Evenings are the best time for fishing, so I will attempt to put Teddy to bed. However, it's very clear who he'd prefer to snuggle with to sleep. 

The other month, I tried to get Teddy to sleep, but he was absolutely hysterical. Although that's his norm for hotel rooms and new places, he generally settles down pretty easily at the land. When I finally got him to stop screaming long enough for him to actually hear me, I asked if he wanted Papa to sleep with him. He immediately signed yes. So I told him we needed to go get on the Ranger to get Papa from fishing, and he giggled and followed the directions perfectly.

All smiles because he has Papa for bedtime.

So tonight I asked if he wanted to sleep with me, and he smiled and signed yes. When I asked if he really wanted to sleep with Papa, he got very excited and signed yes even more. It's funny to watch him when we get Dave back from fishing because he immediately climbs into bed and points to where Dave should lay next to him. If I try to lay by him, he pushes me away and requests Dave to lay by him. Apparently I'm good enough to push him on walks, pull him on bike rides and do everything else, but Dave is clearly the favorite bedtime buddy.

The Wheelchair Saga: Part One

I labeled this part one since we're only 4 months into the process ... and still pending insurance approval. *Sigh*

Earlier this spring, we realized that Teddy's Kimba Kruze was well past it's useful existence for him. He's still within the weight range, but he's so lanky that he drags his feet on the ground. The seatbelt also no longer stays snug. The wheels stick a bit, even when well lubricated. We've used it a tremendous amount over the past 7 years, and it served us well. But it was time for a new one.

Because we won the Kruze, this was our first time requesting a chair for Teddy. Naively, I imagined it would be as simple as asking his caseworker because she's been able to assist with every other request we have, even if the ordering process took a bit. However, the response was that we needed to work through our insurance first. If our insurance didn't cover it, then we could explore whether the county could assist us.

So we reached out to Teddy's doctor to ask for whatever was needed to go through insurance. We were informed that Teddy hadn't been seen in more than 6 months, so they needed to physically see him. So we set up his physical, and then just a couple days before the physical we were told his appointment was being cancelled because his physical was scheduled for exactly one year from his last physical. The doctor's office wasn't sure whether insurance would cover it ... so a couple phone calls later to our insurance company and the doctor's office, and we were set to keep his appointment.

That appointment started the referral process formally in April. But, the paperwork to NuMotion, the company that would order the chair, got lost. Without knowing how long the process would take, I waited nearly a month to follow up with the doctor's office, who said everything was sent to NuMotion. I called NuMotion, and that's when I learned that the paperwork was lost. A couple phone calls later, and the paperwork was tracked down. 

That phone call is also where I learned the process entailed:

1. The initial referral from the PCP.
2. An evaluation by NuMotion's staff in conjunction with a PT or OT.
3. Review of the evaluation by the PCP.
4. Submission to both insurance companies, both of whom would need to approve it.

Let's just say that by the time all the paperwork was tracked down to actually set up the evaluation, we were already in June (and guess what, I made several more phone calls to check in and track down missing paperwork). Then it took another couple weeks to get the evaluation scheduled (which was never actually confirmed, so I just crossed my fingers and hoped for the person to show up). Then it took another couple weeks for NuMotion to get all the paperwork they needed (which required more phone calls and e-mails to follow up on paperwork that was submitted but was missing from the file).

And then, I got to make more phone calls to track down more paperwork from the PCP because that got misplaced or lost in transit (again). Finally in the first week of August everything was submitted to insurance. 

So now we wait anywhere from one to three weeks to hear if insurance approved, denied or needs more information. (Spoiler alert, we're already more than a week into that wait.) 

The best part of this whole saga is the fact that we've been told by multiple people at NuMotion that Medicaid is extremely tough to get approval for pediatric strollers, which is what the Kruze was. In fact, during phase 2, we were asked if we had alternate funding sources since it was that likely to be denied.

Oh wait, the other really stellar thing I learned during that assessment was that they had to size up the chair to last Teddy 5 years. That's right. If insurance approves a chair for Teddy, which is apparently a really big if, the same chair must fit him well and meet his needs when he is 8 as when he is 13. Well, at this point, I guess it must fit him the same when he was measured when he was 8, but he'll be 9 or 10 before they every approve it, build it and get it to us ... because kids never grow or have their needs change.

The silver lining in this horrid process is that we were able to pick up a chair in Chicago at the end of July from another PIGN-CDG family as their daughter had outgrown it. So we cleaned it up and pieced together something to work for the meantime for a lap belt. Ted is rocking the purple chair in the stylish way that only Ted can, and we're very grateful for a chair that fits him much better, doesn't allow him to constantly drag his feet and works so much better than the old one we wore to the ground.

He still looks huge in this chair, but it's mostly the angle.

Respite Camp for AJ

Last month AJ had an incredible opportunity to attend camp through WisconSibs, which is a great organization that provides resources, events and connecting activities for people who have siblings with disabilities. This group has offerings for kids age 6 and up, including for adult siblings whether things like seminars on guardianship or other topics that often are relevant for siblings. AJ has done a handful of things through the group, mostly participating in their Sibs are my Peeps contest each spring and a couple hour SibShop at the NEW Zoo this spring.

AJ in front of his yurt. So cool!

This camp was an extremely cool summer camp full of typical camp activities, plus some extra fun and just a bit of discussion about their siblings. We dropped him off Thursday and picked him up Sunday. In between, he got to be a regular kid and get a break from Teddy. Although he loves Teddy dearly, sometimes Teddy is a lot to handle. (As I type this, Teddy has been “talking” in loud screeches for the past 2 hours in the car.)

AJ got to hang out with other kids from around the state, sleeping in yurts after enjoying bonfires and s’mores every night. They did both zip lining and high ropes courses. They did a nature walk through mosquito-infested wetlands to create ecosystem jars. They got to go swimming in Lake Michigan.

AJ had such a great time and can’t wait to do camp again next year! It was such a great experience, and we’re grateful he had the chance to go!

Teddy Takes on Waterskiing

Last month Teddy had an incredible opportunity to go waterskiing. Yes, you read that correctly. There's an organization called Graceful Wakes that coordinates skiing clinics for people with disabilities. I first learned of the group in June when someone shared their clinic information, so I reached out and was told the clinic was already full (nearly a month in advance). I said we'd try again next year and don't even remember asking to be put on a wait list ... yet the week of the clinic I got an e-mail that they had a cancellation and would love to have Teddy join them.

Since Dave was off that day already, he took both boys down to Janesville, about 2 hours away, for a day of fun on the water. I heard after the first run that Teddy seemed to have fun but was a bit unsure of it, so Dave wasn't sure if he'd do a second run. Well, he did and absolutely loved it once he knew what to expect (as it was a completely new and different experience)!

Teddy was loving his ride!

They had plenty of talented volunteers assisting with every aspect, including two volunteers on skis who literally held the waterskiing chair while skiing. Ummm, I'm pretty sure I couldn't hold my own waterskiing, much less hold onto a chair while waterskiing. They made it possible for a wide range of folks to try waterskiing, with Teddy getting two turns to go.

Thanks to Graceful Wakes and all the volunteers for making this magic happen!

As much as he loved skiing, as soon as his second turn ended, he started swimming away from the chair toward a pontoon boat he spotted. Now, mind you, Teddy's ability to swim is very much a work in progress, but he definitely was moving away from the skiers toward his target. That prompted several additional volunteers to enter the water to "rescue" or perhaps "redirect" Teddy. 

Look at that joy!

AJ captured some good photographs, but the ones I'm sharing in this post are from the photographers who were in the boats to capture the smiles. And there were smiles! AJ and Teddy also got to go tubing together as well, and it was a great family fun day. 

This definitely made an impression on our family (and I'm bummed I was working and missed it). We're so looking forward to this event next year and hope to make it a family fun day!

Baseball was a Hit

Teddy finished his first season with Miracle League, and we're already looking forward to next season. I'm so glad we discovered this program and decided to give it a try, even though games are 30 minutes away. This is such a fantastic program that truly makes baseball accessible to kids with all different abilities and disabilities through a team of creative and caring volunteers. The amount of volunteers needed to support 16 teams of kids, each with a 1:1 buddy, not to mention coaches, photographers, umpires and more is a significant number, yet there always seemed to be plenty of helpers with smiles on their faces who love making baseball possible. 

Teddy's buddy Carlie was amazing with him. She quickly learned how to communicate with him and anticipate his moves. She definitely could keep up with him and was part of the reason he had a great season! He also had great coaches, who quickly knew him by name, cheered him on and supported him.

Teddy with one of his biggest fans and his amazing buddy!

This video captures baseball pretty accurately for Teddy. I thought he was coming to say hi to me, but he was more concerned about everyone else in the stands (none of whom he knows).

Happy 9th Birthday!

One of my favorite aspects of Facebook is the Memories feature, reminding me of what was shared in past years. I chuckled today when I was reminded of AJ's first impression when he met his baby brother Teddy, "Uh oh." I think AJ accurately predicted life with Teddy before any of us knew any different. 

AJ predicted the future with Teddy.

It's been a wild ride with Teddy, living with the unpredictability and never-ending fear of terrifying seizures, a whole team of specialists including therapists who've worked with him now for 8 of his 9 years, more doctor's visits than I can count, 3 surgeries including one that lasted 7 hours and involved a neurosurgeon, 2 ambulance rides, one ICU stay and God only knows how many concussions. (Seriously, he's never been diagnosed with any, but I'm sure God knows how many he's had because I'm certain he's been concussed.)

Teddy's always up for adventure.

Life with Teddy is not what we imagined, yet we're blessed beyond measure. He lives life in the moment, wants to share the things that bring him happiness and radiates joy. He's changed so many lives, including ours, for the better. He's opened the doors to a world we never knew with other PIGN-CDG families, myTEAM Triumph, I Run 4, SibShop and Miracle League to name a few. There's a whole community that makes his life, and ours, better and more enriching. And he makes our community better by being himself, breaking barriers and preconceived notions about people with disabilities as he makes friends throughout his adventures. He's brought incredible childcare providers into our lives, who've truly become like family to us.

Just another ordinary moment for this extraordinary boy.

Life with Teddy isn't simple, but he gives us the opportunity to embrace the simple things, to be present and just be happy with him. What a gift!

Let's see how many more years this can happen. ;-)

Happy birthday to one of the weirdest, bravest, most determined and joyful people in the world! I'm so lucky you're mine (and that we have a good support system because I'd fail miserably on my own with you. You're definitely one who exemplifies the saying, "It takes a village.")

The Science Behind PIGN-CDG

Teddy visited Dr. Morava at Mayo Clinic today for his first annual follow up. She is following him through her natural histories study, and we're so grateful for the opportunity to see and consult with her. She is a world-renowned expert in CDG, and she's absolutely brilliant. She's also phenomenal with Teddy and takes the time to explain things to us in a way that makes sense ... as much as this highly scientific stuff can.

So I'm going to use this blog post to summarize what we discussed, both for the benefit of other PIGN-CDG families and our family but also to help cement the information in my brain. My warning is that this is my understanding and recollection, so anything inaccurate is clearly my error. 

Dr. Morava provided us a chart similar to what she used last time and covered again the basics of GPI-anchoring disorders. Each cell uses sugar chains to build antennas that have protein on top. That is how cells communicate and function together at the most basic level. PIGN-CDG right now is the at the 7th step in the process of building of the sugar chain, with I believe 18 GPI-anchoring CDGs known. So, essentially Teddy's cells start building the sugar chain but stop before the chain is complete. That is why Teddy is globally affected because his brain's cells can't communicate and execute as intended without the proper antenna structure. 

As she explained before, it's a tough diagnosis to develop treatment for because the sugar-chain building occurs deep inside the cellular level, and it's a very specific need. You can't simply provide more of the sugar molecules needed because that's like trying to shovel more snow with a broken shovel ... more does you no good. 

She's aware of the drug-repurposing research we are pursuing with other PIGN-CDG families. She thinks that is a very good thing, not only for PIGN but also for potentially other PIG CDGs and GPI-anchoring CDGs. The goal with the GPI anchor disorders will be to target drugs that can cross the blood/brain barrier, as that is where they will need to do their work. 

Dr. Morava is extremely familiar with drug repurposing, as she is involved with drug repurposing for the most common CDG, PMM2. They started approximately 4 years ago and are just now approved for clinical trials. Believe it or not, that's extremely fast for the use of a drug. They actually got rare direction from the FDA to skip phase 2, which is an extended study of the safety of the drug in patients, and move right to phase 3, which is a controlled test with both drug and placebo. Dr. Morava explained there's both pros and cons to that situation, and it's not the normal process but happened due to the known safety of the drug as it's been in use for 40 plus years. In the PMM2 study, they saw improvement in the earlier testing in about 80% of the cases. They started with yeast cells, just as we intend to, and then moved on to worms and then skin biopsies. 

Dr. Morava said that with drug repurposing they can test 200 known drugs at a time to work their way through the 2,000 FDA-approved drugs. There is a difference between what is approved in the US and what is approved in other countries. So clinical trials may not cross country lines perhaps, but they can do work in parallel with other countries. For example, there are some studies where they hand off the different stages. This can be helpful as there are limited CDG experts. In the US, there are 4 (Dr. Edmundson in Philadelphia, Dr. Lam in Seattle and Dr. Scaglia in Baylor whose plate is full, in addition to Dr. Morava). 

Dr. Morava said one of the challenges with drug repurposing is identifying the biomarker to test. One possibility may be the truncated GPI anchor, but they need to identify something they can clearly measure in each of the tests to see if there's improvement with each drug. 

Another type of potential treatment aside from drug repurposing that does get a lot of attention is gene therapy. There's excitement over that possibility for PIGA as that type of gene therapy already exists in animal models for that gene. If you've heard of CRISPR, that's gene therapy. Essentially gene therapy changes your genetic makeup forever, which is great in the sense of correcting a damaging mutation. However, the long-term impacts aren't known yet because it's such a new therapy. There is the possibility that the genetic rewrite to fix one gene may create other issues, so Dr. Morava cautioned that while it may make sense for diagnoses with no hope, she doesn't view it as the best option for PIGN, particularly individuals like Teddy who are doing well.

The last type of potential treatment we discussed is the idea of using MRNA, which would essentially be temporary genetic therapy. You've all heard of MRNA, as that's how the COVID vaccines were developed. The idea with MNRA is that you inject the correct version of the gene to build the sugar chain and protein correctly. The advantage of this type of therapy is that it should work on all PIGN individuals, regardless of the specific and different mutations. (That's one of the weird things about PIGN is that most of our children have different mutations ... they're all messed up but in a lot of different ways.) The reason is you're simply overwriting whatever the error in the code is with the correct code. The disadvantage of MRNA is that it's temporary. It only lasts about 2 weeks, so it would be a continual process. However, that's also an advantage in the sense that if detrimental side effects are noticed, the process can be stopped and things go back to baseline. (Although Dave and I talked about how incredibly hard it would be to see progress and then regression.) 

The MRNA is being tested in terms of proof of concept with a glycogen storage disease. It's not a type of CDG, but it is another glycosylation disorder. It will be interesting to see and learn what happens.

Of course, all these treatments are literally years down the road. But it's exciting that science is happening, and that people are interested in GPI anchor disorders and these types of CDGs. That's the biggest challenge is finding the right people to be interested and champion for our children by doing the work. 

The main focus Dr. Morava has currently in her research is biomarkers to diagnose CDGs with a biochemical diagnosis rather than a genetic array that results in likely pathogenic results. Right now we have a likely pathogenic result for Teddy from his genetic testing that indicates that his PIGN mutations are likely the cause of his symptoms and disorder. Her focus, with a study of 200 patients, is to develop a blood test that will provide a functional diagnosis for CDGs. This would also, at least in my mind, provide biomarkers that can be used in further research, drug testing and treatment development.

Whew, that is my entire page of notes around the very complex chart she provided, in addition to the much simpler GPI anchor chart she gave us. I haven't touched the 20-page booklet of GPI Anchor Disorders: A Subtype of Congenital Disorders of Glycosylation, but I will. Also, as soon as I get a digital version of that, I'm happy to share it with you if you're interested in learning more (and will share it on our PIGN page.)

Teddy loves to visit Dr. Morava ... and he "locked" the dietician in the corner. 

My view, Fidgets, and Skiing

Hello everybody, This is AJ. I am Teddy's Brother and I wanted to share three cool things with you. I hope you enjoy what I've got to share.

I love being Teddy's big brother. Teddy is great at smiling and cheering you up. I've got to do many amazing things with Teddy like watching him waterskiing, going tubing with him, going to the movies, going to the zoo, and so much more. With Teddy Life is an endless adventure. He is the best brother that I could have wished for.

On Friday Teddy had the amazing chance to go waterskiing with Graceful Wakes and volunteers from Rock Aqua Jays. I was able to photograph Teddy waterskiing here are some of my photographs. It was amazing and I am very grateful for the opportunity to do it.

Also in the last post my mom said how I was selling fidgets as she said I am selling fidgets to fundraise money for a possible treatment to help with seizures. They are $10 a piece and I have the colors Gold, Glow in the Dark, Copper, Silver, Red, White, Black, Green, and Rainbow Glow in the Dark. If you want to  order fidgets go to https://forms to order.

Here are my photos!

YAY That was fun!

Where almost done.

Comin in HOT!!!

Where off!

See ya later.

Fidgets and Fundraising

Teddy's older brother AJ has a huge heart and wants to help fundraiser for the PIGN-CDG treatment research project. He brainstormed a list of fundraising ideas and started with selling 3-D printed fidgets. 

You can watch his fundraising appeal here: https://m.facebook.com/story.php?story_fbid=pfbid046jFT47ZmxpXzrFugmc8ZJHAgDL7Zfte4aKvjULMuxsErjUhjHRKykQnn9Kiu28tl&id=507467621&sfnsn=mo

He's offering fidgets in a variety of colors for $10 reach with local pickup/delivery in Oshkosh. I'm also in Green Bay weekly and can coordinate pickup/delivery there. Otherwise, we're happy to mail fidgets for the actual mailing costs. He's using his own supplies, so each $10 fidget price goes entirely to the research project. You can order here: Fidget Order Form

If you prefer to share directly to the fundraiser to get your tax-deductible receipt, you can do so here: https://secure.givelively.org/donate/cdg-care/finding-a-treatment-for-pign-cdg/kerry-blondheim

AJ is an awesome brother.

PIGN-CDG Research - We're Fundraising!

When we got Teddy's diagnosis back in 2015, it was an extremely bleak prognosis with no treatment plan because none existed. Seriously, we were referred for a handful of tests to make sure he didn't have issues with his heart or his kidneys because the research papers indicated those systems could be affected. But that was the extent of what we gained from his diagnosis from a medical standpoint. 

More than a decade after PIGN-CDG was first diagnosed, no treatment exists. The reality is that so few people are diagnosed with PIGN-CDG (less than 100 known cases) that there's minimal interest in researching PIGN-CDG, much less researching and developing treatments. However, we have a unique opportunity to have a team research treatments for the disorder.

We first connected with Ethan Perlstein of Perlara through the World CDG Conference. Another PIGN family spoke to him, gauged his interest and availability to work with our disorder and coordinated a call for other PIGN families. Perlara has worked with other families and organizations to development treatment models, probably with the most well-known and promising one that I'm aware of being Maggie's Pearl for a different type of CDG. 

In essence, there's not a single genetic mutation that results in PIGN-CDG. A handful of known affected individuals share the same mutation, but even within the same family the mutations can manifest differently. In Teddy's case, part of his gene from Dave was missing a piece whereas part of his gene from me had broken apart and reattached in the wrong location (a splice site). 

Scientifically speaking, the PIGN gene is a common gene that is found in many other organisms, including yeast cells. This allows scientists to replication the mutations in yeast cells and then perform testing on the yeast cells. They can test existing drugs on yeast cells to see if they find promising results and can repurpose an existing medication to actually treat PIGN-CDG rather than just treating the symptoms that result from the disorder. (Tmost common and significant treatment is often for seizures, although many have a multitude of medications to manage a variety of symptoms). 

This research is truly about doing the science and seeing where it takes us. There is no cure for CDG and likely will never be. There is not even a guarantee at finding a treatment. However, this is the single best hope we've seen in the decade since PIGN-CDG was discovered to find a treatment. 

We don't know if this will result in a treatment that benefits Teddy. There's a possibility, although the skeptical side of me acknowledges it's more likely that a treatment will help other PIGN individuals more than Teddy who are more severely affected. Yet, it's an opportunity to help others, to give hope and to perhaps make this road easier for others in the future ... and best case scenario easier for Teddy. 

So we're going to be diving into fundraising efforts in the next couple months. The researchers at Perlara have limited capacity for projects, and we just squeaked in with the PIGN project. The trick now is to raise the funds necessary to do the first two phases (develop the yeast cells and begin drug repurposing testing) in short order. We do need to act quickly, so that we don't lose essentially our place in line.

I'll share more in the upcoming weeks on fundraising opportunities, but I'm starting with simply sharing our fundraising page: CDG CARE (givelively.org) Your donation is tax deductible. Please consider a donation or share this post with others to raise awareness.

If fundraising is your jam and you're interested in helping in this adventure, please let me know. I'd be happy to chat with you, even if it's to learn from you. 

Perhaps we should do accordion concerts for donations. If you don't pay to join the concert, I'm sure you'd donate to end the concert!