The last couple of days have been all about Prader-Willi around here and I’m glad to say that they are over. Last night we had our very first Prader-Willi Symposium, organized by our local support group. The pediatric geneticist that follows Hope, an expert in PWS, was on hand to provide the lecture on all things Prader-Willi. Two hours of Prader-Willi information, even if you’ve heard it before, is exhausting. But even we learned a few things about central hypotonia and some other topics. Of course in a forum like last night you have to focus on the challenges because that is what people expect and need to learn about, but there were a few bright spots as the doctor talked about the promise of new fields of research. No cures unfortunately, but hope.
Then today we had our periodic check-up with the same specialist. We were pleasantly surprised to learn that Hope, although she is still low (only 3rd percentile) for her height/weight, she did manage to gain within the normal range since her last visit a couple of months ago. For her age/weight she is expected to gain 3-9 grams per day, she gained 6. I was shocked, relieved, but shocked. I guess we can breathe a little easier knowing that we are somehow managing to get enough calories into her, but we have permission to try to get more in there. Oh, the irony. The dietician is recommending we add chocolate milk to Hope’s butter-based diet. That’s my kind of dietician.
Hope is getting more proficient with self-feeding, as I type she is working on scrambled eggs — she’s been at it about 30 minutes, and there’s still more I’d like her to eat but I’m probably going to have to feed it to her myself….sigh. Of course the main thing holding us back right now is the sucking, but there is even a little, tiny bit of progress on that end as well. Today our OT showed us a trick, using sour candy straws of all things. When you put a sour candy straw in your mouth, what do you do? Pucker, right? What do you do when you suck? Same thing. So we put a sour candy straw in Hope’s mouth to wake her mouth up and get her puckering, then we switch to a regular straw and she sucks…magic! Back and forth between sour candy straw and chocolate milk. Again, the irony. There are also some tricks and tools the OT is going to start using with Hope and us to help her develop her oral muscles — even her tongue is floppy. I guess even with a hypotonic baby you still take for granted that even the seemingly simplest muscles will work, but they don’t work any better than anything else. Last night’s lecture explaining the central hypotonia helped us to understand why that is, the hypotonia isn’t a flaw in the muscle, it’s a breakdown in the communication between the brain and the muscle — it’s the brain that isn’t working the way it should, automatically and without effort. Sigh….
But anyways, both of our Prader-Willi events went better than we expected and I’m relieved. I’m also nursing some sort of stomach bug thanks to my two little germ monkeys, but thankfully it waited until today to hit. I’m ok, just tired and a little queasy. I hope it’s not the Hamthrax.