After the dystonia*-induced sleepfest that was yesterday (we finished up at 7 episodes during the day, along with a couple minor ones overnight), today was much more awake and energetic. He started eating a great meal (some eggs, avocado, blueberries, strawberries, and sauage), had an episode in the middle of it, and soldiered on without crashing out. It took about 75 minutes to eat, but he finished his first dose of medicine and started on a second as we left on the walk to the Amplatz Building. We’re unsure what the issue was (heat, gas, tired, hungry) but Jefe was not happy for a good chunk of the walk despite his stroller being fully decked out.
We arrived at the hospital for our meeting with Drs. Utz and Whitley, basically a catch-up meeting so that they can talk to us in person about Armand’s development or lack-of, see how he is acting in person, and for Dr. Whitley to do a minor checkup (checking for liver enlargement, eyes, reflexes). Also, Armand had his first dystonic* episode in front of a doctor, which Dr. Whitely attempted to video so that it could be shown to the neurologist we will be meeting with later this week.
*They noted that during this episode, Armand seemed to be “somewhere else”, which is generally a sign of a seizure, not dystonia. However, this is also something new, as he normally had been very aware (and very frightened) during his episodes. Dr. Whitley noted that the neurologist would have a better idea of a diagnosis, and that putting him on an anti-seizure medication might let us know. However, upon learning that Armand’s Cincinnati neurologist, Dr. Collins, had already previously started Armand on Keppra to no effect, that the dystonia diagnosis may be correct. We’ll find out more with the MRI and spinal tap, and when we meet with the neurologist here.
Starting next week, we’ll begin minocycline, the fourth drug in Armand’s cocktail.
We took a cab ride back and Armand knocked out a big supper (more avocado, turkey sammich, puffs, strawberries). A third episode did finally knock him out for a short nap, after which we took a walk to a local market to pick up some extra foody supplies. Ari was really giddy and interactive during this time, bouncing in my arms, giving kisses, laughing.
Overall, he had a pretty decent day, especially compared to yesterday. Aside from the walk to the hospital, he was in a good mood; Dr. Whitley noted his smile and how he focused when interacting with Lindy. We still have a big week ahead of us, and hopefully we’ll get some answers as to where Armand stands with his decline and how we can arrest it.
EDIT: Forgot to note that just before our meeting with the doctors, we met with a genetic counselor. She was impressed with our knowledge of how recessive genes work and the rareness of Armand’s condition. For my (and Lindy’s) family members reading this, she noted that it may be important to get tested not only for GM1, but for any other genetic disorder for which we may be carriers, remarking that it is much more common for people to be carriers of Armand’s hearing disorder (possibly 1-in-25). So, to our brothers and sister, it might be a good idea to think about getting a genetic test for yourself and possibly for your kids to make sure that nothing is getting silently passed on to future generations.
For those of you unrelated to us, it still wouldn’t be a bad idea to get yourself and/or your children tested for as many disorders as can be available. Remember, Armand was tested at birth for (if I recall correctly) 16 different metabolic disorders — apparently, Type II Gm1 Gangliosidosis wasn’t one of them.
EDIT #2: See, this is why I need to write as soon as we get back to the hotel and not at midnight. Anyway, discussion was made about putting a feeding tube in Armand to help him get fluids during his spinal tap on Wednesday. Dr. Utz told us that while every parent initially feels somewhat devastated by the idea of needing a feeding tube, most realize very quickly the benefits. Lindy and I have only really had initial discissions in the last day or so, so doing it this Wed (well, tomorrow at this point) seemed moving too quickly for us. It is something we have to look at very shortly in the future, but it’s very hard for us to have that done so immediately. Dr. Whitley did tell us that if we’ve had independent discussions of this idea, then we’re seeing enough at home that it’s probably a very real concern and is something we should think about soon. Lindy and I are both on board for it, just not right now.