Why We Worry

Life with Teddy is a roller coaster, filled with incredibly joyful moments and moments that my brain blocks out to prevent me from the trauma. (I wish I was kidding, but I'm not really.) We've spent the past 2 years living cautiously because of COVID. The reality is that any illness can trigger seizures for Teddy, and seizures terrify us. 

I realize both Dave and I have anxiety regarding Teddy's health, largely due to the fact that we've seen Teddy experience terrible seizures, intubation, hospital rides and ICU stays. We've seen how worried the medical professionals were ... and realized that worst-case scenarios could exist. Dave and I had a conversation the other month discussing that illnesses could lead to seizures and hospital stays, and then Dave tossed in "death." It was somewhat of a lightbulb moment because I never realized that Dave goes to the ultimate worst-case scenario every time Teddy gets ill. 

To paint a picture of what illnesses look like for us, Teddy spiked a fever 2 nights ago in the middle of the night. He was restless for a couple hours and woke up at 3 a.m. absolutely miserable. That ended our sleep for the night, as we were getting him medicine, snuggling him and worrying, especially because we were 3 hours from home. Teddy fell back asleep for a bit until 5 a.m. when he woke up still miserable. By 6 a.m. Dave and Teddy were on the road home, and by noon he was diagnosed with double ear infections. 

He's so miserable and pathetic.

It may seem like overkill to take Teddy in to the doctor for essentially a fever and a few occasional coughs on the same day he started with symptoms. Yet, he's non-verbal, so he can't tell us what he's feeling. We never know the full picture of what's going on, so at least a doctor visit can rule out some things or give us answers. 

This time we got lucky in the sense that we got answers: double ear infections. We were able to get antibiotics into him the first day. We rotated Ibuprofin and Tylenol every 3 hours, except when he was sleeping.

Dave slept in Teddy's room to keep an eye on him, and Teddy started getting restless again in the middle of the night. By 3 a.m. he was up with both of us in his room, snuggling him, laying on either side with him in the middle just moaning and whimpering with us worrying and waiting for him to feel better with the medicine. And that was the end of restful sleep for any of us.

That's just a snapshot - a cold isn't just a cold. It's a ball of nerves and worry until Teddy's on the mend. An ear infection is sleepless nights and worry. Fortunately things are looking up this time, as Teddy finally perked up near the end of today asking to go outside and actually smiling and laughing. 

This smile gives us hope and a bit of peace.

CDG World Awareness Day 2022- AJ's Version

Hello to all reading this letter. This is AJ.

Happy CDG World Awareness Day!!  I'm Teddy's big brother, and I was thinking "What would my life had been if Teddy was normal?" Well, Teddy comes with pros and cons. 

Pros: 

• Amazing brother
• Always has a smile
• Never would have met so many cool families with CDG-PIGN (Congenital Disorder of Glycosylation-PIGN variant)
• We would have never gotten amazing babysitters (Bri and Sigrid)
• And so many other things Teddy has given us

Cons: 

• Would never have to deal with research studies and tests 
• Life-threatening seizures
• Teddy harassing me
• And him causing trouble

Teddy is a one-of-a-kind gift given to our family. " So, what would my life be?" you ask. Well, it would be totally different. So, Teddy's proof that anyone can be amazing and make a difference no matter what religion, skin tone, disability, problem, or differences they have. Teddy is a gift in his own way, and nothing will change that. Because of Teddy's disability, my mom's been able to help so many other families with CDG-PIGN. 

Sincerely,

AJ Blondheim

CDG World Awareness Day 5/16/2022

CDG World Awareness Day 5/16/2022

PS. The cookies were made by mom. If you want some of these or other delicious things, you should email to get in contact with Kerry at nonesuchbakeryllc@gmail.com

PSS. All the pictures were taken by me (AJ).

World CDG Awareness Day - 2022 Version

It’s World CDG Awareness Day! Each year May 16 is the day that worldwide we show our love for all those with CDG and spread as much awareness as we can. The reason why awareness is so crucial is that, like most of you, we had never heard of CDG (Congenital Disorders of Glycosylation) before Teddy’s diagnosis in November 2015. We were informed his initial diagnosis of Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1) was a type of CDG. CDGs are classified as rare diseases as a whole, and there’s more than 100 different types of CDGs known, with more discovered as science continues to evolve.

I think we need a new picture. This one's a few years old. 

CDGs are the result of genetic mutations that impact how the body processes sugars on a cellular level. (Think back to high school biology.) Since it’s on the cellular level, there’s no dietary changes to make. Unfortunately, there’s also no treatment, let alone cure. Instead, we treat the symptoms that present with CDG, which means for Teddy we treat for seizures, low carnitine levels and assist his body with getting much needed rest. (Yes, some of the medications we use help Teddy sleep because he struggles with sleep, which makes him cantankerous and more prone to seizures. As an added bonus, these medications also have seizure-reducing properties.)

Teddy’s diagnosis was updated to CDG-PIGN after the medical community changed the naming system to reflect the name of the gene that is impacted. When Teddy was diagnosed, we were told he was likely the 15^th person in world with this diagnosis. Our kid wasn’t one in a million … he was more like one in a billion.

In the past 7 years, more have been diagnosed with CDG-PIGN, primarily children, although the oldest in our group are in their early 30s. That doesn’t mean the life expectancy is 3 years, like the first medical research papers we received, although the reality is that this diagnosis impacts people in a way that can dramatically shorten their lifespan. This diagnosis also didn’t exist until 2011 and requires expensive testing to lead to a probable diagnosis (as there’s no blood test to confirm yet). I’m certain there’s older individuals … and far more than we know of … who never got a proper diagnosis.

As it stands, our group of known cases has grown to almost 100. One of the amazing PIGN moms, Ashleigh, invited all who wanted to join in a video compilation. She kindly gave me permission to share her video. CDG-PIGN impacts each person differently, even siblings, yet our children have amazing spirits and smiles, resilience and determination and manage to change the world with their existence. I’ve shared past posts introducing a number of our PIGN families in past years here and here and here. Our group continues to grow, and our hearts ache for our community when we lose one of our children. Unfortunately, that happens every year, and it hits home each time. The names with the doves by them are no longer on this earth.

As you can see, there’s a wide range of how the disorder affects our children. Generally speaking, the primary challenges are verbal communication, developmental delays and seizures. The severity of the disorder varies greatly as we have some individuals who’ve had only a handful of seizures and others who seize more than 100 times a day. There’s children who can run and walk, like Teddy, and others whose challenge is head control who require total assistance. Some of our children are incredibly medically complex and receive hospice support, and others thankfully are thriving without frequent doctor visits.

Like I said earlier, there’s no cure or treatment currently. However, there is a glimmer of hope for treatment through genetic treatments like CRISPR or, more likely, drug repurposing therapies. We recently had a meeting with a handful of other families to discuss the possibility of starting the science for a potential treatment for our PIGN children. (I’ll share more on that in a future blog post.) And that’s why today is important to families like ours.

Without awareness, the only ones interested in treatment are the families impacted. Since we have less than 100 families in our group, that’s a really small group interested in treatment. The more awareness we raise, the better the chance of finding others with a similar purpose, getting doctors and scientists interested in CDGs (including PIGN) and potentially raising funds because science is expensive.

So, feel free to share this post with others to introduce them to CDG-PIGN. Awareness starts with sharing our story.

#WorldCDGDay

Birthday Bash

Teddy has been invited to one or two birthday parties for friends in the past, but it hasn't worked out for him to attend them. He was invited to a birthday party this week at Monkey Joe's, which is a bouncy house indoor activity place. Teddy's been there a couple times and had a blast, and it's such a great physical therapy workout for him! (It's also where AJ attended his first friend's birthday party ... and got stuck inside one of the bouncy obstacles for 10 minutes sobbing hysterically.)

Our wonderful nanny Bri agreed to take Teddy because it was right after his therapy appointment. At first Teddy was perplexed why he was there and uncertain whether he could actually play. But once he realized he could jump, bounce, climb and slide to his heart's content with his friends from school, he was ecstatic. He couldn't even be bothered to eat the pizza, although he did manage to stop long enough to eat a cupcake. 

No mask can hide his excitement!

I'm so glad Teddy had this opportunity!

Escape Artist

Earlier this week, Teddy was having a rough morning. He was in a sassy mood, trying to climb over the stair railing and was sad because we kept redirecting him. So he went into his room, vocalizing his displeasure. I had 5 minutes until my timer went off for the granola in the oven, so I figured I'd join him in his room to see if I could improve his mood. I laid down next to him, and he covered me with a blanket, left the room and shut the door. It's not uncommon for him to do this and then continue to open and shut the door, but I decided to beat him to the punch by opening the door ...

... except the knob wouldn't turn. I didn't panic completely because sometimes the door handles stick with the safety locks on them, so I pried off the safety lock. Yet the door knob still wouldn't turn. I was locked in Teddy's room. He was locked outside his room. We were alone in the house. I had no phone. Yikes.

His OT should be impressed. I am, but I'm not.

Fortunately, we keep a screwdriver in his room in case this happens, so I went to grab the screwdriver. But I couldn't find it. Now I was panicking, praying and sobbing while pulling things down off the shelf to look for the screwdriver. I still couldn't find it. 

Now, I'm short, and the shelves in Teddy's room are tall, so he can't pull things off them. That means I can't see on top of the shelves without standing on the bed (or bouncing to see further back). So I was jumping on his bed trying to find it, flinging things off his taller shelf. There is nothing to climb in his room (to keep him safe), so I didn't have many options to look and feel in the far reaches of the shelf. 

After I ripped down most things from the shelves, I didn't think I had any other option to make sure Teddy was safe for the hour until our sitter arrived. So I removed his window screen, asked him one more time if he'd open the door and used the fire safety escape ladder to get down to our deck one story below. Then I ran around the house, unlocked the door and the safety lock from the garage and walked inside to find Teddy staring out the window down the street. 

It's a lovely view, minus the rather unsteady ladder.

That's when I grabbed my phone to photograph the adventure of the morning and the step stool to put his room back together. Of course, when I wasn't freaking out, I was able to locate the screwdriver. I knew I was panicking because I know the trouble Teddy can get into in an instant (as is evidenced by him locking me in the room). I had tried to calm myself and slow down, yet I knew time was of the essence.

Fortunately, we were both completely safe. As we put his room back together, I discovered all sorts of fun books that had been shoved out of sight on his bookshelf. And I got some valuable fire safety practice skills, along with the opportunity to have AJ practice that evening (since the ladder is intended for single use, so we just did it right out on ground level to practice the motions). 

And, I also realized that it will be nearly impossible without strapping Teddy to me physically to get him down the fire safety ladder. I honestly thing the best bed would be to lay his pile of pillows on his sheet, lay him on top, and scoop up the bedding and lower it as low as I can before I drop him onto the deck, which would be not horribly far. I mean, he fell further without cushioning when he scaled the railing from the second floor. Are parents supposed to contemplate these things? 

Sigh. This child will be the death of me. 

Doctors Visits with Teddy

Teddy enjoys going different places and being around people, whether familiar faces or new friends. The only exception was that after his week-long testing study at NIH, he was terrified of the doctor and got extremely anxious regardless of the reason for the doctor visit. Thankfully, enough time has passed since then, and we've had enough "easy" doctor visits, that is no longer the case. The ER is still an instant trigger for tears and freaking out, but I feel the same way on the inside, so I understand that.

Throwback picture to the first time he wore a mask for a doctor's visit!

We took him to the doctor last week for what could be dandruff, cradle cap or ringworm. The good news is that if it's ringworm, we caught it really early. For now, we treat the other two and monitor since ringworm treatment is a 6-week process that isn't something we want to do if it's not needed. Anyways, the point is the visit wasn't anything painful and was rather routine. 

Right away, he pointed to the light that is used to check ears, noses and throats. And then he pointed to his nose, wanting his nose checked. We told him that wasn't why we were there, but he asked a few more times. Then when he hopped up on the exam table, he instantly pulled up his pant leg and pointed to his leg. He wanted the doctor to check his reflexes. This cracks me up since that is done at most once a year at his annual physical. 

At one point, he hopped off the table and beelined for his doctor. He immediately tried to sit on his lap, and our doctor helped him up without breaking his explanation to us. Teddy was grinning from ear to ear under his mask, so happy to be there.

He's such a goofball, and it's great to have an easy doctor's appointment. He often struggles with the wait and things like blood pressures, but each good experience helps build muscle memory that these things aren't so bad after all.

And I love that our doctor understands Teddy and embraces him, quite literally sometimes. 

So Much Joy

We often hear how beneficial it is to live in the present, to enjoy the moments as we live them. It's not easy for many of us as the worries of tomorrow, the endless to-do lists and busy calendars keep us living in the present while always thinking about the future.

One of the blessings of Teddy's diagnosis is that he lives in the present. (It's only a curse when the present is absolutely horrible for him, as then he feels big feelings and is inconsolable and nothing distracts him, not even the promise of favorite things in the future.)  He finds joy in such simple things that we often overlook. Whether it's the deliciousness of ice cream or the excitement of going someplace "new" like the doctor's office, he is simply happy to be alive. 

The source of this joy and mess? Chocolate ice cream!

When I can experience the world through Teddy's eyes, I can find more joy than with my own eyes. His joy eyesight is better than mine. And one of my favorite things is that he wants others to experience the things that bring him joy. If he's doing an activity or playing with a toy that he thinks is fun, he'll ask others to do it and then grin and giggle because he's sharing his joy. 

Life isn't all sunshine with CDG, but Teddy's smiles light up a room even on the dreary days.