Yesterday we went to neurology with the two youngest living kids. Generally, their appointments were normal neurological exams. There was some weakness noted and some question about seizure activity. So we're going to do an EEG on our youngest, and an EMG on our youngest son. We'll also take our youngest son to a special care developmental pediatrician. It is to look at the autistic qualities he displays, but also to look at the feeding issues, lower energy, gross motor skills, etc.
I did ask if we're dealing with a mental illness (one of the findings from the mtDNA test we had noted that it could be related to mental illness) because some of the things we're seeing with our kids really worries us. We were told that some kids with mito do some really strange things, and they didn't feel we needed to be thinking there's a mental illness. It's confusing to me hearing answers like that, because I am not sure if they are saying they believe our kids have mito or if they are saying that if it is mito that the strange behaviors/episodes are connected to that (but then what is going on if it is not mito). Mitochondrial myopathy just kept getting tossed around, though. I think it's just that there isn't anything else really sticking out, and it is something that is a legitimate possibility.
We went to the lab to do the blood draw the pulmonologist wanted. Neurology had no other labs to add. It was just a capillary blood gas, so I thought that was better than going to a vein. But it really upset our little one more, because they have to push and push and push. She cried a lot, and the really sad kind of cry like why am I letting them do this. She had to leave her bandaid on, and wouldn't let us even touch her hand all day.
Next, we stopped in at cardiology. They had the holter monitor ready, and got it put on. She's wearing it now, and we will keep it on until tomorrow to return it. There has been some different discussions about dysautonomia, so hopefully this can tell us if that's a problem. Neurology told us that Vanderbilt is doing a lot of research studies in that area. They told us that if the holter monitor showed dysautonomia, we might consider going somewhere like that where they are able to do the really specific testing. But if the holter monitor is normal it doesn't really give us any more information. So am I supposed to want a normal or abnormal result?
It was interesting at the appointment. I think doctors try, but it's just frustrating not having anything to really pin down and see what is going on. They didn't have an answer for the way our youngest's head is growing. They asked if our genetics doc had any suggestions. That is how it goes. Neurology told us that our biggest concerns about our youngest son need the GI (yeah, doing that) and when we were at GI, he made it seem it was a neurological thing (like autism or sensory) or a behavioral thing. They all just ask what the other docs think, as if it's not their job to think about it.
The whole genetics discussion was interesting, too. Of course, the same thing was said about how the testing is going to be coming out soon, but not really fully available yet. They pointed out how the features of these two are so similar - and there are a lot of similarities (but some distinct differences I think perhaps were overlooked). I asked a little about what it means about the similarities, and the idea is just that they both seem to have the same underlying component from the genetic aspect. If my memory is right, the way we look can be a phenotype, but so far there is no genetic condition that these features have brought to mind yet. A far-stretch that was mentioned was Russell Silver syndrome, but no one really thinks that is what it is.
Well, anyway, I hadn't gotten my hopes up too much. They did explain that though some of the tests from a couple of years ago like the MRI and MRs and EEG had things that were "interesting findings" that in an overall view they were "normal." So the confusion we have with some docs saying they're normal while others say abnormal all have to do with how fussy the doc is about the results, I guess. I don't know how to interpret things myself, so I am just trying to assume no one is overlooking things by not being fussy enough.
Today, we tried to just take things easy. Yesterday was exhausting in so many ways. Going to the hospital where our children died, seeing the docs that were part of the care of those children during the crisis...
Okay, well the happy thing is that we are celebrating a birthday! Today we just tried to enjoy that though we were very uncertain if we'd have the chance to even celebrate one birthday with her, she is still here to celebrate! Honestly, it's not something we take for granted. I am just very grateful, and if I was the one who got to pick her birthday wish today, it would be that she would have decades more full of birthday celebrations.
There is another little girl I wish I could give those decades to as well. But her parents are going to be celebrating her 5th birthday early, because she likely isn't going to live long enough to be here with her family on that special day. You can send a card to her and her family:
Children's Hospital Boston
300 Longwood Ave
Boston, MA 02115