Rare is Rad!

If you don't love someone with a rare disease, you probably have never heard the phrase show your stripes. The idea is that we look for the most common explanation, so we think horses when we hear hooves. The rare explanation of a zebra is also entirely possible.

The journey to Teddy's diagnosis was filled with looking for horses and never finding them. We looked at febrile seizures. But he didn't fit the criteria. We looked at all the common genes for epilepsy. But that didn't give us answers. Every test for 1.5 years was negative or normal, yet the seizures continued and the delays grew more noticeable.

When we got his diagnosis of MCAHSS1, we felt so alone as we were told he was possibly the 15th in the world. Within a month, we were welcomed into a small but incredible community.

Through the years, the name of his disorder has changed to PIGN-CDG, and our community has grown. He's been published in a research paper. We've made friends around the world, most of whom we've never met in person.

A diagnosis didn't change the prognosis or treatment for Teddy, but it helped us find out herd of zebras. And I'm the past year our herd partnered with brilliant scientific minds and expert CDG doctors to work together to find a treatment for CDG-PIGN. If you want to support our fundraising efforts, you can donate here: https://secure.givelively.org/.../finding.../kerry-blondheim

Today is Rare Disease Day. We're not alone in our rare journey. Thanks for being a part of our herd. And thanks to Jillian Halstrom Saddlemire for the

rad

shirts!

Rare is rad! We celebrate Teddy's uniqueness!

In honor of Rare Disease Day, AJ presented to his class about Teddy's disorder. He developed his presentation himself, although he invited me to join him. During the course of 30 minutes, AJ educated his classmates on CDGs, Teddy specifically and our research project. He did a great job and is such a great advocate for Teddy!

AJ is so confident and capable in sharing about Teddy's disorder.

The Best Winter Tradition: Picnic Days

One of our favorite winter traditions is winter picnics with my parents, complete with tubing on the creation my dad made called the Beast. This tubing creation has allowed Teddy to join the tubing fun since he was 1.5 years old, even when he had no body tone. We’ve done this tradition once a winter since 2014, first starting at my parent’s farm and then moving down to our land.

AJ wanted to pull Teddy in the sled. Teddy loved that.

We actually got to enjoy 2 winter picnics this year, one in January and one in February. We were blessed with incredible Wisconsin winter weather both days: sunny, in the 30s, little wind and snow on the ground. You can’t ask for better Wisconsin winter weather, especially since that combination makes snow extra packable, perfect for chucking snowballs while being pulled by the tube.

These days are some of my favorites because they’re long enough to enjoy the tubing, campfire, lunch and walks on our property, yet they’re not so long that we get frustrated with Teddy’s lack of listening skills. It’s a very manageable day, and we all enjoy them.

This is a picture of Teddy. He put Grandpa on the tractor and then ran away up the hill.

Teddy went tubing one day, but his preference is to ride with Grandpa as he crazy drives the Ranger trying to knock us off the Beast. AJ’s job is to pack snowballs for me to chuck, and Grandma hangs on for dear life. Dave enjoys that for a while before sneaking off to the river to fish.

Simple days like these are the best family time. No screens while we’re there (ignore the screens that are on the entire drive to and from) and just good ol’ fashioned fun.

Winter Hikes

The other weekend Teddy and I went for a hike together at a local nature preserve. Teddy was super excited to spend some time outdoors in the woods. He loves running through the woods, and it’s great for him to practice his stability.

Since this preserve was in the path of tornado-like winds the other year, there’s still tons of down trees, paths blocked and even more bramble that seems to be right at eye height. So Teddy got plenty of practice ducking and even had to crawl under some trees. He came away with no scratches and both eyeballs still intact, so that was a success.

We probably spent about an hour walking and covered about a mile, not bad for Teddy and the terrain and all the breaks he took to sit on the ground because he didn’t want to go any further (or he wanted to go the opposite direction). While I’d love to hike longer and further, this hike was so enjoyable because I went into it with no expectations and let Teddy lead our adventure for the most part.

He thought it was hilarious that he was running and sliding down a hill (with a steep cliff dropping to a river on one side), but thankfully he slid right into a tree that was downed across the trail. That stopped him and allowed me to catch up to him, giggling hysterically. (Him, not me, although I did chuckle after telling him he almost died.)

Although Teddy is persistent, he does fall pretty often. He doesn’t mind those falls and will often pick himself up and keep running without pausing. Yet he also took advantage of these breaks to munch on snow. I know many kids like to eat snow, but Teddy takes eating snow to a whole new level. He’ll eat it straight off the ground, scoop it up to eat it or lick it off tree branches. In fact, when he didn’t want to head back to the car, I kept scooping up the cleanest snow I could find to offer him “snow snacks” to keep going.

Teddy munching on his snow stick. Weirdo.

This was a great adventure with Teddy, and I’m grateful for afternoons like this.

Seizures Suck

Life with Teddy is a roller coaster of emotions.

My day started by waking him at 4:45 for a sleep-deprived EEG. This photo was taken while I sprinted after him as he explored the hospital before his EEG, with him collapsing in fits of giggles when I blocked the stairs every time. (There's a reason I wore running shoes.)

Teddy had to say hi to everyone.

The EEG was miserable. We hate seeing him so stressed, the wires fell off even without him pulling them, and it'll be a miracle if his doctor can make heads or tails of it. But he perked up the moment he got to leave and got over the stress much quicker than us.

Now he's tired and craby, understandably. Yet I just signed him up for Miracle Leaugue, which is guaranteed to be a highlight of our summer.

In case you're wondering why the EEG was needed, Teddy had his first seizures that we've observed in 3.5 years last week. The seizures came a week after the hives, yet something was still off with Teddy with him waking up screaming 2 nights in a row before we saw the seizures. It makes us wonder whether he's had other seizures that we missed. 

The good news is the seizures seemed to reset him to where he was back to baseline pretty much the next day. The bad news is that we had to squeeze in labs and this lovely EEG in less than a week before his regularly scheduled neurology appointment tomorrow. 

Morale of the story: seizures suck. Oh, and I apparently don't like roller coasters now that I'm an adult.

Hives and Being Heard

When Teddy had his skin biopsy done earlier this week, we noticed he was a bit off earlier in the day. As Teddy is non-verbal and has a high pain tolerance, it's tough to know exactly what is going on and whether little things like being more mopey in the morning are a sign of something wrong or just a poor night of sleep. We took his temperature, which was normal, and continued on with our day. He seemed to be acting fairly normal throughout the morning, and then we had his skin biopsy.

As I mentioned, he fought less than I expected. Normally he hates anything medical. He did resist laying down and had to be held (by 3 of us), but he almost immediately stopped fighting. That might be typical for most kids once the numbing injection sets in, but Teddy hates being held in place. It was really odd that he didn't resist the entire time, but I was grateful for how well it went.

But as soon as we got home, his behavior continued to be off. He came up to me multiple times to snuggle or to hug me and be held. Now, Teddy likes close contact and physically touching people, but that's more to direct us where to be not to get snuggles and loving. 

Then I had to hop on a meeting for work, and Teddy left me alone the entire time. That's when I decided we needed to visit the walk-in clinic to get him checked out. Primary symptoms: extra snuggles, not resisting a skin biopsy as much as expected and not getting into everything ... really great to explain to a doctor, right?

But while I was in my meeting, he started breaking out in hives. So we headed right to the walk-in clinic. I walked through everything with the front desk and the nurse. As I explained things to the doctor, he said that it's really hard to determine the cause of hives. He was focused on the skin biopsy and a possible reaction to the numbing medication, and he seemed more ready to just treat the hives than look for any underlying cause we could find. He did check Teddy's lungs (as Teddy always sounds wheezy.) When I asked him to look him over and check his ears for example, his response was that he didn't know what he'd see in the ears that would cause hives, but he did check anyways. 

This was early on, and it still looked wicked.

It's honestly the first time in a long time that I haven't felt heard when I brought Teddy in for concerns. He didn't even check his throat, mouth or nose for any signs of illness. While I realize hives are nearly impossible to diagnose the root cause of without allergy testing (and that's still not a certainty), it's also impossible to know if Teddy had a fever that was masked by the medication following his biopsy ... or a sore throat ... or a headache.

So we got sent home with steroids, and Teddy continued to worsen. The hives spread over his entire body until he no longer had splotches and dots but instead his entire body was red and hot to the touch. He rolled around trying to find relief from the itching or pain. He scratched himself. He was miserable. 

We got a second dose of steroids in him, and he finally settled onto Dave and fell asleep in misery for a nap. Then he woke up from that and promptly puked all over Dave. 

Let's just say it was a really long afternoon and evening. Thankfully he was feeling a bit better in the morning and was no longer a giant hive although he was still itchy. Our best guess is it was some virus that caused viral hives, which he's had once before.

I certainly hope he doesn't have these again anytime soon.

PIGN Research Project Update

I wanted to share an exciting update regarding the PIGN drug repurposing project. I shared about the project previously on the blog here. For those unfamiliar, the quick explanation is that our PIGN community is fundraising to do the scientific work to determine if any existing drugs can be used to treat those with PIGN-CDG. It's a long, expensive process, but this scientific method has been successful with other illnesses or disorders, including very promising results with another type of CDG. Essentially, it's the best hope we have for any type of true treatment for PIGN in the foreseeable future.

To do this research, 10 genetic variants were selected to build yeast avatars to test against existing medications. These variants represented a wide range of the known PIGN defects and were selected to represent a wide range of defects and because they were easily modeled in yeast cells. We knew Teddy's variant wouldn't be selected because it's not easily replicated due to part of his variant being a splice site, meaning his gene split apart and reattached in the wrong place. (Whoops, he inherited that from me.)

Additional variants were selected to be part of a second phase of research. That group of variants will be used to test the drugs selected against human cells, as opposed to yeast avatars. Teddy was selected to be a part of this research group, as it's simply growing cultures of his cells to test the different medications.

This meant Teddy needed a skin biopsy done. He's had this procedure done several years ago, as part of his NIH natural histories study, but he was sedated because other tests were done at that time. This time required several weeks of coordination with Mayo Clinic and local providers leading up to the actual appointment.

He had his biopsy done Monday, and it went remarkably well all things considered. (All things include the fact that it required 3 of us to restrain him while the puncture was done, and there's a whole separate saga about hives, urgent care visits and the like that occurred later in the day.) 

Teddy had a lot of opinions on where I should sit throughout his appointment.

So his sample is being sent to Mayo Clinic for storage. His cells will be replicated in laboratories to test against different medications. The goal is to see if a medication that works well in multiple yeast avatars works well in the human cells, along with testing a wider range of mutations. (Unfortunately unlike something like Down's syndrome where the mutation is universal, CDG-PIGN encompasses a wide range of mutations, many similar but relatively few completely identical.)

While it was tough to have Teddy endure a skin biopsy that's technically not needed for diagnosis or treatment at this time, we recognize this act can benefit not only potentially Teddy but hundreds of other families with this disorder down the road. It's a small sacrifice to benefit the greater good. (And as we already lost another one of our PIGN kiddos this year ... it's January 18 ... it's the least we can do.)

We'll be continuing to fundraise as science isn't cheap, and this is very much a grassroots campaign done by the families affected. We're small, but mighty when combined with caring friends, family and those who support our journeys. 

If you want to make a donation, you can do so here: https://teddystriumphs.blogspot.com/2022/06/pign-cdg-research-were-fundraising.html 

Inclusion - It's the Little Things

Teddy spends part of his time in an intentional classroom where he focuses on educational goals in his Individualized Education Plan (IEP) because he's nowhere near his typical peers in terms of typical classroom comprehension and skills. He spends a portion of his time, though, with his typical peers in 4th grade. We're beyond blessed that his 4th grade classroom teacher happens to be someone we've unofficially adopted into our family who knows him extremely well, cares deeply about him and understands how to help him be as successful as he can be in the classroom along with his typical and atypical peers. 

I got a message from his teacher today sharing that Teddy had a turn reading poetry today in her classroom. She indicated that another classmate called on Teddy to take a turn, and he was very excited to head to the front of the class, sit in the teacher stool and have his paraprofessional assist in reading poetry.

He may have been so excited by the experience that after he returned to his seat, he felt like he should have another turn sitting in that cool seat as the center of attention. 

Still, I love that he got this opportunity. My favorite part is that a 4th grader in his class simply called on Teddy, a non-verbal child, to take a turn reading poetry simply because he raised his hand to volunteer. (He's figured out that when other kids raise their hands for turns, he should raise his hand, too.) This, to me, is proof of the power of inclusion in the ordinary, everyday moments. 

A completely unrelated photo that illustrates that interactions with Teddy may look a little different.

I've seen adults with limited experience with people with disabilities unsure of how to interact, uncertain what to say or do. Teddy's classmates interact daily with 3 peers who are very different than them in their educational skills, how they communicate and how they interact. Yet they have learned to simply treat their peers as peers, to include them and to lend a helping hand where needed. They know it takes a bit more patience sometimes and that things might not go quite as expected, but that's true of this journey called life.