Halloween Hijinks

OK, it's almost a month after Halloween, so I'm playing catch up. But Teddy had 2 monumental things happen for Halloween that I want to share. 

I'll preface this with Halloween is a favorite for Teddy because he loves visiting all the people. In the past, he's viewed this as an acceptable form of breaking and entering, an invitation to explore every open garage door and a chance to go to everyone's house. A few years ago he realized he was holding a bucket of candy, and he loved it even more!

Through the years, there have been a few costumes that have freaked him out, especially AJ's ninja/shadow suit. But in the last 3 years, that handful of costumes has increased, in addition to some decorations freaking him out. It seems like costumes wig him out (no pun intended) because his brain can't reconcile who he knows with what he sees. It's fine if a costume is very similar to regular clothing, but any wigs or blow-up costumes instantly put him on edge. 

This costume challenge was apparent at our neighborhood Halloween party, when Teddy was so freaked out he could barely make it inside the garage and couldn't wait to leave. So Dave hung out with him at home because he couldn't handle it (Teddy, not Dave). That made me a bit nervous for the big plans Teddy had for Halloween, but he did really well with both.

The first was the school Halloween dance. There are several school dances each year, and AJ has attended all of them to work at them for student council. Teddy had attended none, even though he loves people, music, dancing and food ... all the thing the dance includes. So we had asked what it would take for Teddy to participate in the dance this year, as he'd need support and supervision. His team worked it out, so he was able to attend the dance and did great! He only needed a short sensory break to reset, and he was back in the chaos and loving it! We're excited for other dances, especially as they should be easier without any costumes involved.

Trick-or-treating with his bestie! 

The other was Teddy went trick-or-treating with his best friend. While he's been trick-or-treating with AJ's friend group, who certainly included him, and with our family friends, this was his first time with a friend of his own. The two of them had a great time, despite Teddy being freaked out a bit by his friend's costume. His friend was great about encouraging Teddy and asking for candy for him at the few houses that were way too scary for Ted to venture to the door. It was really a neat experience, and it continues my love of Halloween for Teddy!

Terrific Tooth Visit

Aka trip to the dentist. 

The dentist is one of Teddy's fears. There's a handful of things that absolutely terrify Teddy, most of which defy any logical explanation to our minds (arcades, high lifts, and electric wheelchairs to name a few). Then there's a few things that make absolute sense (the ER and dentist's office). 

I stopped taking Teddy to the dentist when he grew so large  that I could no longer physically restrain him and body hug him with my arms and legs to hold him in place for the quick exams. Any x-rays or dental work has to be under sedation, as we learned when he chipped his 2 front teeth the other year. Not the easy in office sedation because he simply rips off that laughing gas before it even starts. The full in-the-hospital, give him a shot of ketamine to even get him back to the room to get general anesthesia kind of sedation.

So, needless to say, trips to the dentist are a bit stressful. We switched to an office that specializes in kids with sensory issues and other challenges a couple years ago when we needed the sedation dentistry, and he's been making progress slowly but surely. 

His last dental visit was his best yet! He actually sat in the chair on his own (rather than being lifted into the chair), stayed in the room the entire time and did phenomenal for him. While Dave could tell he was agitated the entire time, this was such tremendous progress for him. 

Apparently it's a big problem if any more teeth fall out now.

It was also really neat for me to hear the report from Dave on the dentist visit. While you might not think of a good dentist visit as a point of pride, the excitement and pride in Dave's voice was palpable. It's pretty darn heartwarming to see that form of love for a child.

Next up - trying to make some progress with the eye doctor. While the examination chair itself looks intimidating with all the equipment, that's never once been used on Teddy. Nor has he had any of the puffs of air, dilation or anything that touches his eye. So I'd classify this as one of those inexplicable fears. But our eye doctor's office is great with Teddy, especially his actual doctor. 

So when I called to ask to move AJ's contact lens appointment to allow Teddy's therapist to accompany us and video him to create his own social story to practice, they were super understanding. We're all set to see how it goes with his therapist along, which will give her the opportunity to witness it in action. They're also going to set him up with a mini appointment with a technician to allow us to video him going back into the room and go through those initial steps for the social story. I'm super impressed with them, though not surprised based on our past experiences there (and the fact they've watched me physically restrain Teddy to keep him from running out of the building because he couldn't handle it anymore). 

Diagnosis Day

It's hard to believe it's been 10 years since diagnosis day for Teddy. 

He thought he was the doctor. That hasn't changed.

That's the day our lives changed forever in an instant, yet nothing changed in that moment. A diagnosis answered some questions yet opened Pandora's Box because only 3 research papers existed in 2015 on Multiple Congenital Anomalies Hypotonia Seizures Syndrome 1, as it was called back then. Literally, Google returned less than 10 hits. How can that happen?!?!

Those 3 research papers painted a bleak picture, with a life expectancy of 3 years written in black and white. That's the reason we kept the name to ourselves, aside from sharing it with my aunt who was entertaining AJ in the waiting room for the entire 3-hour appointment, for several weeks. We didn't want our parents to search it and find that devastating news until we could confirm with our genetics team that there was no reason to believe our little boy would die in the next 6 months (as he was 2.5 at the time of his diagnosis. 

We were told Teddy was believed to be the 15th person ... in the entire world of 7, 470,491,872 or so people. Mind-blowing to say the least, especially since there was only a 25 percent chance of us getting a diagnosis with the exome sequencing test. We had low expectations since every other test came back normal or negative, nothing explaining why Teddy was lagging further and further behind in milestones, lacked muscle tone and control and put a nasty spin on the phrase, "shake, rattle and roll" with his seizures.

That day cemented us as a family of 4 with no further children added to the mix. I distinctly recall them asking if we planned to have more children, and my honest answer of, "Not after today." 

That day, and the following month, were so hard with so many questions and so many unknowns. The first glimmer of hope came in connecting with another mom, even though she had already lost a child to this disorder and had another daughter affected. It was such a relief to have another human, another family who was walking a similar path. It truly was the best Christmas gift we could have received that year.

From there, we found a tiny Facebook group with a family from Australia, a family from Poland and two other families from the United States. We had so much in common, despite the cultural differences and the wide variation of how the disorder impacted our children.

Now, 10 years later our tiny Facebook group feels so much larger, with more than 100 known cases of what is now called PIGN-CDG (Congenital Disorders of Glycosylation). We families have banded together to try to find treatments to benefit not only our children but those to come. (You can learn more and donate here: https://secure.givelively.org/donate/cdg-care/finding-a-treatment-for-pign-cdg/kerry-blondheim). We've met several families in person, connected via technology and have developed incredible friendships. We mourn the loss of each beautiful soul to this disorder, celebrate every milestone and achievement and support each other through it all. 

While this isn't the path we'd have chosen for our family, we're so incredibly blessed with both our children and grateful for the support along this journey. After 10 years, it's so much easier to see all the connections and the incredible things that have come from this diagnosis and shaping our family into who we are. We're forever changed by being a part of this community and hope we can ease this diagnosis for those following behind us.