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.