An update on my teen

 Last I posted, it was spring time.  We had been noticing some different things going on with Gabe.  I thought it would be good to give an update.  I talk pretty openly and honestly about Gabe for a couple of reasons.  I believe knowledge is power.  I believe people are naturally curious.  I believe Gabe has a lot to teach people.  He says it’s okay if I share about him, so here’s my best recap. 

Gabe was having “stuck” episodes that we noticed last winter.  It was like he couldn’t get moving.  There were also times when he would physically be shaking and scared.  We have also noticed speech fluency decline over the year.  Executive function hadn’t taken over at all.  We felt a little lost.  After talking it out with his physician in the Downy syndrome clinic, we were referred to multiple specialists for a deeper dive.  After lots of blood work, brain MRI, EEG, consultations with neuropsychiatry, neurogenetics, and neuroimmunology, here is what we know.  Gabe has some anxiety.  We saw symptoms way back in 2020, but he wasn’t on the best medication fit for his teenage body.  We adjusted some things, and his anxiety is now under much better control.  No more stuck spells.  No more shaking.  Anxiety is more common, or at least more talked about these days.  It is also more common in Down Syndrome.  The Down syndrome clinic actually sent out the following research update earlier this month.  It describes Gabe pretty spot on: 

Individuals with Down syndrome face challenges with executive functioning and are more likely to experience anxiety. Executive functioning (EF) is a group of mental skills that help us achieve goals and process information. It includes initiation (starting tasks), shifting (switching between tasks), working memory (temporarily remembering and working with information), emotional regulation (managing emotions), and inhibition (controlling impulses). Key Takeaway: If a young person with Down syndrome is having a hard time with EF skills, screening for anxiety may be helpful. Early intervention in both areas is important. Challenges with EF may look like hesitation or avoidance when starting or switching tasks. This challenge may be misinterpreted as a refusal behavior, and interventions won’t target the underlying issue: anxiety. Interventions focused on anxiety can improve academic and social success. In addition, proactive strategies to reduce EF challenges may lessen anxiety. 

So, Gabe does not have DS regression or catatonia.  He does have some DS dysregulation and anxiety.  DS has pieces of neurodivergence mixed in. While Gabe does not have ASD, OCD, or ADHD by diagnoses, the DS reach does include certain components from these buckets –more so the attention piece for Gabe specifically.  As Gabe’s anxiety improves, he wants to be more social.  This has resulted in some silly/class clown/attention seeking teenage behavior we are working through.  He wants to interact but doesn’t always have the communication skills to do so, so being silly and attention seeking is his default.  Yes, that is common for teenagers, but sometimes it disregulates him.  Medication and behavior strategies are helping.  There are amazing days and some hard days.  We are still fine tuning some things and teaching Gabe what social norms are positive and what things get him in trouble as he looks to be more engaged with others and keep his cool. 

Down syndrome is often considered a syndrome of autoimmunity and inflammation.  Kids with DS are at risk for thyroid disease, celiac disease, various skin conditions, Type 1 diabetes, and even leukemia – all conditions where the body turns on itself.  Of these, Gabe has psoriasis and alopecia only.  There are some very early trials with medication, commonly used to treat inflammatory and autoimmune conditions, to help connect neurologic wiring and improve EF.  Science is not there yet.  All this is emerging.  Considering the recent statement about anxiety and EF and current investigations on inflammatory responses and EF, there is a lot of discovery potential.  Through all of this, I have learned the importance of research.  There is so much to still discover about DS.  I would never change Gabe – Down syndrome and all, but man I wish I could make things easier for him, the medical stuff and the brain connection stuff, because it’s all there.  I see pieces of it in him just needing to emerge all together. There are many times when it does, and it’s awesome, and he’s so proud of himself. We’ll continue to take one day at a time, and today was a good day.

 

Anxiety, keep on trying me

 Gabe started stuttering with language in 2019. We took him to a speech therapist who specialized in stuttering and she was able to mimic his stutter even. We worked on some strategies to help him smooth out his language. Then Covid hit and it didn’t really take. The thought was always that Gabe began stuttering because his thoughts got more complex and he almost used it as a tool to motor plan out his words because he wanted to tell us full stories, not just little sentences as he did in the past. It made sense to us. In 2021, he also started showing signs of anxiety. It was a Covid world of NTI on and off learning along with moving houses and school districts. It was a lot. We took him to see a psychologist and we noticed that with just a tiny bit of medication help, he was much calmer.

Fast forward to this year, and Gabe started showing more anxiety signs. This time he would actually hold his stomach and physically shake. There were also odd moments where it seemed like he was frozen and not able to move. It was more than just refusal and a hard “no” that he’s given us in the past around transitions. It was almost like he couldn’t wake up or couldn’t hear us. Once we finally broke through the freeze, he would move along with the transition no problem. It was very odd . We also kept thinking about his speech more and more. We looked back on videos, hearing him talk and it’s a bit devastating. We talked to his doctor at the down syndrome clinic.  She brought up a potential co-diagnosis of apraxia or autism. The tricky part is though, Gabe had all the skills and then regressed. It wasn’t like he just never developed them. She referred us to Neuro psychiatry to investigate a little further. At the neuropsychiatry appointment, they brought up catatonia, or down syndrome regression disorder. I’ve been reading a lot about that over the past month. The word catatonia generally has a stigma that’s a bit frightening, but it’s really a medical umbrella term for frozen movement, or withdrawn. Down syndrome regression is just picking up in awareness and research these days. They actually think it’s much more common than we realize since symptoms are often masked and blamed as delay or speech difficulty. Either way, it was worth delving into. Lab work and EEG all were normal, not showing any signs of seizures, inflammation, hormone, or metabolic issues that could be causing the catatonia or regression. Gabe is currently getting a brain MRI as I type this from the waiting room to make sure everything looks clear. It’s almost a matter of ruling other things out to see what’s left. Not sure if he really has catatonia or regression, but the symptoms warranted a work up.

As we investigate the catatonia further, we definitely acknowledge that there was an anxiety component as well. We’re working with different medication management and Gabe‘s anxiety has definitely improved. No more spells of getting stuck. No more episodes of shaking and holding his stomach. He’s also talking a bit more. For example, I used to say “good morning Gabe” in the morning and he would say “hey”. Now he says “good morning mom”. It’s not perfect, but definitely more language. He’s also following steps a bit better. He’s getting ready more independently at night. All things in the right direction and kind of back to the baseline. Maybe all of this really is just significant anxiety. Also, Gabe‘s been through some trauma in his life with all his medical needs. He’s experienced some heavy things that most kids don’t. Maybe some of that triggered it as well. Who knows, but it’s comforting to know that we’re tapped into the right specialist and experts to figure him out. There’s moments where he’s so clear and things are so thoughtful with him. You just want him to emerge so everyone sees it.

Special thanks to all his teachers, respite workers, and friends. Especially friends who stay patient with him and see his potential and thoughtfulness whether he’s speaking or not. 

We’ll figure it out. The brain, and that extra 21st chromosome are truly fascinating. Never give up on Gabe. 

Ps:  his spine and ankles are looking great and he’s getting stronger with exercises every day.