12/14/2025
Some quick updates on Tillie girl!
We saw Dr.Goldstein at CHOP (virtual) the week of Thanksgiving. We’ve had some episodes of concerning behavior, including the night before, with perseverative, disruptive behaviors, like she can’t regulate and has severe agitation. We discussed the idea that maybe she hasn’t been having seizures but is “storming”. This is a dysregulation issue in mito. We’ve noticed her sparkle has been dulled by seizure meds and neuro meds, and neither seems to be working! So, Dr.G wants us to try a different approach. It’s a “controversial” drug here in the US, especially for kids (at least for those who may not know it’s *intended* use or the mechanism of action), but it’s widely used in Europe for a similar disease and is proving to not only help prevent storming but also SLEs, AND is improving cognitive function in some patients! There is a clinical trial taking place here, however, we are years from pediatric trials, which will be too late for my sweet girl.
As soon as she said “controversial”, I knew the drug AND that I’d say YES. I had already researched the trial taking place and the drug, so I understood. (I’d even had the thought “I wonder if ### would work the same way?”
We decided to schedule an interdisciplinary meeting with CHOP, Neuro, and palliative, hopefully over Christmas break, to discuss a) weaning seizure meds, b) introducing the new drug, and c) weaning the neuro irritability med. Knowing what I know about this “controversial” drug, a medicine Arabella *already* takes, I am so excited at this!
So anywho, both of my daughters will be on Vi**ra together next month 😂
As for everything else, Matilda has been stable. She’s even spontaneously relearned a few words she’d lost long ago! She’s even loved school, books, comfy pjs, and he’d favorite ppl. She’s lost a little weight so we’re working on that, had a few med adjustments, but things have been going pretty well otherwise. We went to Florida for Thanksgiving, and we’re looking forward to Christmas here at home in Va 🎄🎅
