Some days I wonder how patient I really am. And I know who those of you are, that are laughing at that statement right now ;-P Some days it feels like these past weeks here in the hospital have flown by. But on a day to day basis, putting up with patience with doctors while they navigate how to best treat Riley, how best to wean down his settings on the ventilator, & having patience while treatment options are decided while we still don’t have an underlying diagnosis, for lack of a better word, sucks. As of today, we have tied his longest stretch in the hospital (Aug-Sept 2014 with his first pneumonia), and will easily pass that number come tomorrow, with many many more days added on after. Wouldn’t be shocked if we doubled that number….
I we finally have a “plan” on weaning him off the ventilator. With having a lot of back and forth on ideas, him having crappy days, we’re going to go slow and adjust one setting at a time, down by 1 step on one, one day, then the other the next. Hopefully he takes to it all well, and extubating goes more successfully this time, compared to last week’s epic fail. If/when we get him extubated successfully, the question will be what kind of extra support he may or may not continue to need while here and at home. The upper respiratory infection is officially gone, but now we have the problem of him just having very weak muscles, and that includes his lungs. And not knowing if his muscle weakness is gonna get better, gonna stay the same, or will be progressively degenerative, it hard. So planning immediate care for the upcoming future, and beyond has suddenly gotten even more difficult with this stay.
Unfortunately, we didn’t learn anything overly new and helpful with our genetics meeting last Monday. Basically went over the clinical results in more detail. The biggest reason that CDGs are highly questionable with his double mutation of the ALG14 gene, is because Chris and I have two totally separate variants of the gene (mutations). And the literature that is out there on ALG14’s connection to CDGs, Riley just doesn’t fit that picture. I spoke with his doc today, and the lab is sending out the raw data this week, so she will be able to start going through it all next week. She is going to try and find any red flags that aren’t of clinical significance (because little to nothing is known about them), and can figure out anything more on a research level. It was a little disappointing to wait a month and a half after getting the results to find out there isn’t anything else useful, especially when we could use some sort of helpful information right now; but we knew that was a very real possibility.
We’ve had his MRI results since it was taken about two weeks ago, but decided to speak with Vlcek about it all prior to releasing more “unknown” information. He came and visited with us last Friday. It’s funny because when Riley was little, we always thought his bedside manner was just kind of weird, but with how much Riley has grown on him and he’s gotten comfortable with us, it’s funny to hear him ask me questions about how I am doing. So of course Riley’s MRI doesn’t tell us that he has this specific disease/disorder. But having it, and being able to compare it to previous MRIs has given us something. It’s blatantly obvious that Riley’s white matter situation has gotten much worse. Clinical reportings:
· Compared to prior study performed on August 27, 2015, progression of T2 hyperintense signal abnormality involving the white matter diffusely, most consistent with leukodystrophic process. No abnormal associated enhancement or restricted diffusion.
· Moderate-severe diffuse cerebral atrophy, stable to slightly progressed since August 27, 2015.
Actually being able to see the pictures of his MRI scans you can really see the changes happening. These are not his scans, but I pulled pictures off the internet of what a normal brain should look like, and one with his level of cerebral atrophy now.
(normal MRI)
(Cerebral atrophy MRIs)
Since Riley isn’t even three years old yet, it’s too hard for Vlcek to be able to say with any certainty if his white matter is progressively getting worse, if it’s just made wrong somehow, etc. It’s for sure that he does have some sort of Leukodystrophy. Problem is, there are many diseases and disorders that falls into this category, and again, as of now, we can’t say “he has this”. So that gives us steps closer to answers, but when it comes to making care decisions right now, not helpful!
(“Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.” -nih.gov)
There are so many roads that we could be facing right now, and not only are some of them terrifying, it’s also terrifying not knowing which one Riley will end up going down, and how to best help him. Chris and I have never felt like we’ve had to have some serious life and death talks about our son, and we certainly hope that to not need to keep continuing, but we both need to figure out how to deal with the “what if’s”. Talking about what to do with our son if he does have a progressive disease that takes his life, sooner or later. Talking about quality of life and things we would or would not put him through. Of course we both would do anything to keep our son alive, but we have to put him first and determine if something drastic happens, what that life looks like. We aren’t near that point right now, but still having him on a ventilator after his RSV and pneumonia has cleared, because his lungs are too weak, is a serious thing. What if we can’t get him off the vent? Do we move forward with a trach and he’s on a vent that way for the rest of his life? What if we do get him off the vent, but he still can’t function his lungs normally on his own and need constant BiPap stuck to his face?
I don’t think the whole “not knowing” aspect of his life has ever been this difficult. I don’t think I’ve ever been more terrified that our son does have a progressive leukodystrophy that will one day make not only his external muscles too weak, but is internal muscles as well. We could already be starting down the rabbit hole of his lungs falling into that category, we just don’t know. What happens when his kidneys join in, or his heart? I can’t fathom a life without this sweet little boy. And I hate that it COULD be a reality. I in no way choose to believe it is, but somehow we need to accept and deal with the fact that it is a POSSIBILTY. Because if we don’t, I don’t know how we’d ever cope.
Things are going pretty well for Riley right now. He’s headed in the right direction, slowly but surely. But we do know quickly things can turn in the wrong direction, so it’s the patience game and taking it one day at a time. We now have a dedicated comprehensive ICU doc that is handling his care and overall picture. He’ll still have a day to day ICU attending and residents scheduled, but she’ll be in more control of everything, which is comforting. No more changing plans every few days. And as we slowly get closer to extubation, we might have a sit-down with docs involved to go over all the “what if’s”, that way we can start to prepare better after seeing how he does weaning down. Taking these small one step a day in his weaning process will put us at, at least sometime into next week at the earliest for talks and possible extubation, and he won’t strong enough to be able to just get up and go home at that point. Which means, minimum of a few more weeks here, fingers crossed it’s no more than that. I have so many people asking “What can we do”, “What do you need”; I never know how to answer those questions. If you have brilliant ideas that you want to do, help, whatever with, by all means go for it. I’m not good at asking for help, but when things are offered, especially now, we will take it. Visitors, good food, some glimpse at normal life! It’s the small things you miss “living in your tiny house” HGTV joke ;-P
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