Things aren’t all doom and gloom here, just a very mixed bag. Picked up Armand from Grandpa Babysitter’s house today, and he was in a great mood, did his little bounce that he does when he sees me, wanting to be picked up — he even gave me a kiss which he’s been doing more lately (insert smiley emoticon here). I asked how his day was, and since he couldn’t tell me, my dad answered with a seemingly quivering lip “worst day ever”. He’d had five “episodes”, by far the most he’d had while in my dad’s care, and since Armand is his little buddy (he’s spent by far more time with Armand than any other grandchild, mostly because Lindy and I can’t afford actual daycare), it’s hard for him to see it happening. Well, it’s hard for all of us, but I’m trying to make a point here.
Anyway, the odd part was, despite having such a rough day (he’d actually had a sixth “episode” in the morning while still with Lindy), he was in a great mood. He’s still not letting things get him down. We had a great ride home (I sometimes reach back to the back seat while I drive so he and I can hold hands; he’ll then prop one foot on my arm just kicking back), he had a great dinner, and a fun time bath. And now he’s started doing something really positive — sitting normally. Because of the weakness in his core/trunk/tummy area, he tends to sit in a W to help with added support. However, lately, he’s started getting himself into a more normal position with one or both legs almost straight out. Even in the bathtub, he had his legs out and caught himself as he was starting to fall backwards.
If you’ve read “Notes From A Dragon Mom” (and if you haven’t, please do, I can wait. No really, go ahead I’ll be here. Done? Okay, moving on), the author talks about her son with Tay-Sachs (also called GM2 Gangliosidosis, very close cousin to Armand’s GM1), and how she and her husband parent for today, knowing that it’s all they have — they don’t have the concerns for college or weddings or sports teams. They take the joys they can in day-to-day living, having gained some acceptance of the inevitable. I mention this because the two main things in the previous paragraph (Armand’s disposition despite troubles and his new sitting style) are major deals to me, something that most parents of a 3-year-old would never worry or think about. It shows that he’s fighting, he’s progressing where he can, he’s more or less adapting the best he can.
Now, that said, we are coming to somewhat of a crossroads with a major decision. His episodes are not treatable with the medication he was initially prescribed, Keppra (which is more for seizures), so Dr. Collins, our fantastic neuromuscular doctor at Children’s Cincinnati, wants to put him on Depakote. Lindy and I have some major fears about this drug: it’s one of those classic “the side effects almost seem worse than the condition” moments, including things like liver damage and pancreatic damage, both even to the point of being fatal (and sudden). This is especially in issue for a child who’s disorder already places his liver under attack. Alternative medications generally fall under muscle relaxants, which would cause his hypotonia to get worse, and may affect things like swallowing, breathing while sleeping, physical therapy, and his overall lethargy. The third option is really to do nothing but be more aggressive with his miglustat treatments (he’s at 8mL of solution per dose, three times per day — full dosage is 40 mL of solution three times per day), and hope that the “episodes” go away as treatment progresses and, hopefully, the disease itself regresses. None of these are all that positive, there is no easy choice, but we’ve been presented with worse before. We’re trying to weigh all options with input from all doctors.
So, yeah, in summary, mostly happy child, very proud but very confused parent.