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.
