SCH PICU day #25

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  

(Poster I made for his door)

 

 

 

SCH PICU day #12

I’m happy to announce that Riley is turning a corner here. It’s certainly a huge relief but at times I still hold my breath and cross my fingers that we stay on this course, especially when I see random desats in his oxygen numbers. It will be a slow road to recovery, and I’m sure we won’t be able to take him home anytime soon. I’ll be surprised if we make it home by NEXT weekend. I can only hope, especially since his Nana, Papa and Uncle Brad are coming up then to visit and I’m sure Riley would love to be home with them!

Riley’s tummy isn’t as distended as it was (still very big compared to his normal skinny waist though), so he’s been able to tolerate his normal feeds through his g-tube again. He spent about 5 days on the TPN version of his keto diet (IV form), and that was probably maxed out anyway as those fats going directly into his veins started to have an effect on his pancreas, which isn’t good. So that’s done and gone and his pancreas is recouping nicely from what I understand. He’s getting the minimal amount of fluids as possible (but with max amount of his feed), since he’s still very puffy. Thankfully he’s started peeing well on his own, the catheter came out a few days ago, which I’m sure he appreciates! He’s kidneys have recouped enough that we have been able to give him a few doses of LASIK (med to help you pee out fluids) a day, and that has started working well. I think the biggest thing that will help him start moving all that fluid around will be when I can get him out of bed! Needs to come off the ventilator first though, but the day it does, he will be in my lap all day and I won’t be giving him up! This is the longest I’ve gone without holding him, and still have at least several days, if not another week, to go.

Respiratory wise he’s slowly starting to improve, but like I said, long road ahead. Just like the rest of his body being weak muscle wise, so are his lungs, which means they’re gonna take a while to get back to normal. We are slowly making changes in turning down some pressure support on the ventilator. Maybe in a few days he will be strong enough to try dropping it back down to the CPAP mode. They’re actually going to turn one of them back up a little bit today to give his lungs a little bit of a rest, as they’ve been doing more on their own the past day or two. Biggest reason for this is, that he gets to go on a little field trip today.

Neurologically he’s been very slow to come around after going off of his sedative medications that he had been on when we first got here. He’s been off of them about a week now, and he’s just barely starting to open his eyes a little bit more and react to things. For being this sick, I’m not overly surprised, but agree with the docs that since Riley is such a little wild card, that we want to make sure all basis are covered. So even though he’s had at CT scan (portable to his room) that doesn’t look much different than his previous MRIs, and a seizure free 24-hour EEG, he will be rolling out here in about a half hour (by the time I finish this!) to get an updated MRI. His last one was in August, so I know Vlcek was going to be wanting a more current one soon anyway. So I made sure the PICU team coordinated with him to have all ducks in a row, and just get the one done now.

Think that’s about it for now. Continue to attempt to relax and recoup. It will definitely be a process, but at least we seem to be going in the right direction. Was pretty nice to have his EEG hat, catheter and ART line taken out/off all at once the other day. Let’s keep that trend so I can get him out of bed! His PICC line will probably be coming out sometime early next week once IV meds settle down some (just leave the one IV), and hopefully the ventilator will soon follow. He’s gonna get a new bed when he goes for his MRI since the scale stopped working on his current one, curious to see how much bigger he is compared to when we came in, and compared to his highest point with all his extra fluids! Good thing I’ve held off on some summer clothes shopping….

Finding balance in hard times

The past few months haven’t been easy for me, which is why I haven’t blogged. I’ve been working on myself, dealing with things, and learning to accept and live with others. And just as I started to get a handle on things, shit has hit the fan, once again. You’d think I’d be use to waiting by now, grown more patient. And with many things I have, these last few years has taught me so many things, including that. 

But for me, waiting for his genetic results has not been easy. I think I was so swamped with things in December, with the holidays, planning Chris’ 30^th birthday, etc. it kept me very distracted from the fact that cloud was just looming not knowing what was going to come of it. After the new year and things settled a little, I accepted the fact that I needed a little help, learn to ask for help when needed (which I’m still not good at), and put a little more focus in to self-care. I restarted my antidepressant, and that has helped take a little bit of the weight off my shoulders. I’ve been working on asking and accepting help when I can, and take that time to try and find myself again. I love my son with all my heart, but in dealing with all his medical issues and question-marks, I do feel like I’ve lost a little bit of myself. So I’m working on the little things that make me feel more like myself. Like doing my makeup and hair more, not living in gym clothes all the time (even though they’re so comfy), organizing and decorating things around the house, playing with Sadie more, etc. It’s a work in progress but I feel like I’m headed in the right direction. 

While I deal with myself, I still have to find ways of dealing with current issues. Which include the genetic results that we have gotten that have of course raised more questions, and Riley’s current hospital trip that we’re battling. Of course I checked in with our genetic counselor right before our vacation at the beginning of March, to see if we had any updates. Completely was not expecting a call from her that Monday morning while we were in Walla Walla. Chris was out golfing, I had just gotten out of the shower, and Riley was napping on the bed in the hotel room. A call I will never forget. Genetics had an “answer”, and she was giving it to me right over the phone. Typically, we would have had to wait for our follow up appointment to get that information but there was a next step in testing that we wanted to jump on and not wait a month and a half to do. Chris and I did our best to try and enjoy our vacation. We kept the information to ourselves while we were in Walla Walla for a few days, to let everything sink in…and we might have drunk and purchased a lot of wine while there! After that we filled our families in on the news and decided since it raised so many questions that we couldn’t answer, that we’d keep the information among immediate family until we had a little something more.

On the edge of your seats yet waiting for me to spill the beans? Well I’ll spill them if you promise me to not ask too many questions, because we still don’t have a lot of answers. I’ll do my best in explaining things, but we still don’t have our follow up appointment until the 18^th, which I have to figure out what exactly we can do about that because I’m confident he’ll still be in the PICU, at least he’s at Children’s! Riley still does not have a specific diagnosis, but his whole exome testing did show a specific mutation of a gene. Actually, a double mutation, ('variants of uncertain clinical significance') in the ALG14 gene.  One mutation came from me, and the other from Chris. This is an autosomal recessive condition, meaning children have two mutations when affected; however, we are currently unsure if these gene changes are pathogenic and disease-causing for Riley.  Mutations in the ALG14 gene are associated with Congenital Disorders of Glycosylation or CDG's. Affected individuals can have intellectual disability, delayed development, hypotonia, seizures, and ataxia.  If you look up and read about CDG’s, which there are many, the overall symptoms fit Riley to a “T”, especially if you find information on the ALG14 gene, unfortunately it’s a newly discovered gene so literature is sparse, and appears to be quite rare.

“Congenital disorders of glycosylation (CDG) is an umbrella term for an expanding group of rare metabolic disorders that share similar but not identical genetic changes (mutations) and biochemical activity. These disorders involve a normal, but complex, chemical process known as glycosylation. Glycosylation is the process by which sugar chains (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have varied important functions within the body and are essential for the normal growth and function of numerous tissues and organs. Glycosylation involves many different genes, which encode many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems. CDG can affect virtually any part of the body, although most cases usually have an important neurological component. CDG can be associated with a broad variety of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases. CDG are usually apparent in infancy.” (WebMD)

To help determine if the two mutations are causing the ALG14 gene to be non-functional, we did the next round of testing, transferrin isoform analysis by transferrin isoelectric focusing, simple blood test, sounds way more complicated right?  This test helps determine if the protein produced from the gene is functioning in serum transferrin.  So if this test comes back abnormal, then the likelihood that this double mutation of ALG14 is disease causing in CDG’s would be pretty likely. Guess what the results where. NORMAL. So more questions as answers. Riley’s symptoms just make so much sense, we thought we were getting our answer, even though these are super rare and range in severity. Now from what I understand, transferrin glycosylation patterns may normalize so repeat testing is warranted in patients with significant clinical suspicion (and I would think Riley would fall in that category). His doctor does agree that Riley has significant clinical suspicion and isn’t opposed to repeating the test, but I guess his normal results aren’t suspicious of CDG’s. So that’s more that we’ll discuss in our follow up appointment soon. 

So that’s where we stand with genetics. We have all this information, but for the time being it doesn’t really mean to much. Nothing is every quick or straight forward with this kid, why should this be any different? It is hard though having this information but not really knowing much regarding it for it to be able to possibly help in current time. Having him in the hospital and having all these things being treated, at the moment this information is mute, because it’s such a big question mark and not enough is known to be able to help his treatment. We might as well not have the information for present time. But we still have to work forward with it somehow, in hopes that it will help with future treatments, and plans of care.

 

As I write this, my almost three-year-old little boy lies next to me in a bed with more tubes and wires than I can count. I’ve never seen so many things hooked up to him. I’ve never lost track of everything he’s getting or has going on, because it’s just been so much to remember. I’ve never gone this long (a week now) without holding him. I would climb into bed with him if I could fit or if someone wouldn’t yell at me for doing so! You all know that he’s definitely had his fair share of hospital trips, planned and unplanned. We are veterans at this, and have a habit of saying “I’m coming home” when we’re talking about the hospital. Don’t like that one. But this is by far the sickest he has ever been. By far going to be the longest trip to date. I looked back and his longest trip was his first unplanned trip into Swedish right after he came of ACTH and was super chunky and had a virus and pneumonia. That level of pneumonia does not even compare to this one. He was there a total of 25 days. We are currently on day 8, and haven’t even turned a corner yet. 

I hate to say that I’m used to seeing and dealing with is seizures. They still scare me every time, but between his meds and diet, there’s only so much control you have over his brain with that. Somehow I feel like there is a bit more control over his lungs in comparison. So when things feel out of control like this, it’s too close to my worst fear. Obviously losing a child is any mother’s worst fear. I in no way believe that I’m going to, but with his medical conditions I do have that reality & is another thing that I’m trying to learn to live with. It is a reality, especially not having the answer to his underlying condition, that we could lose him sooner than we should. For all I know he’ll grow up just healthy and give me grandkids one day; that is certainly my hope and what I’m choosing to believe will happen. But for him, it’s entirely possible that his life may only last through early adulthood, or teenage years, or only a few more years. Of course this could be with any child, but I’m trying to deal with his reality, and his is still just so unknown for a handful of reasons. 

My nightmare is that something will happen to his lungs, he’ll need to be on a ventilator, and then we will never be able to get him off. So with him in the hospital in his current most worse off condition, you can try and imagine how well I’m handling it. I’m terrified. I try to be positive, and like I said I do believe he will end up healthy and give me grandkids one day. But in current reality being anywhere near my nightmare, terrifies me. 

He’s in the hospital with RSV (upper respiratory virus) and a very bad pneumonia (doctors are actually impressed by how bad). His upper right lung is collapsed, and has been on a ventilator for a week now. We have not been successful in lowering his settings, so he’s basically been sitting “stable” in that aspect. His x-rays look worse and worse each day. They’ve done an ultrasound of his chest to check the amount of fluid on the outside of his lungs, which isn’t enough right now to require a chest tube thank god, but something they’re watching of course depending on each day’s x-ray. His fever has been ranging 100-103 most of the week, but has dropped and is staying in the 99’s the past few days, if not normal at times. Due to all the fluids he has needed, he’s gotten super puffy and has been retaining it places, a lot in his belly. So he’s been getting meds to help him pee everything out, but you can’t stay on that forever because it starts to affect kidney function. Yesterday and today levels on his kidneys are way too high, so now his kidneys are under destress. It’s not bad at the moment, but the LASIK (med to make him pee out extra fluid retention) has to be stopped, and the second antibiotic they started has stopped because his kidneys didn’t like it. Sine his stomach was so bloated from fluids, his stomach stopped tolerating his feeds a few days ago, they’d just start pushing up on his lungs and not go anywhere. So we had to stop those. Problem is, since he’s on the ketogenic diet, we need that to help curve his seizure activity. They were able to start him on an IV version of the diet, but it can only be done for a few days before it starts affecting your pancreas. Watching levels on that, and they’re starting to increase so he won’t be able to have the IV version much longer. They did a CT scan to make sure there wasn’t a brain bleed or anything they were missing since he’s still very out of it and hasn’t had any sedation meds in two days. CT doesn’t look any different than his MRIs, so there is nothing new there to worry about thankfully. He’s starting to come around a bit with some leg kicks, hand squeezes, facial movements when he doesn’t like something. Still no open eyes or fully awake though. His blood pressure bottomed out earlier this week when they needed to put in his picc line, so he’s been on and off blood pressure meds. Holding stable now with a low dose, so far without it, he’s just a touch too low. He’ll be getting an arterial line here shortly because of how many meds he’s getting, and how many labs they need to keep track of now so often. Basically similar to a normal IV, but it has to be placed in one of his arteries, probably in his inner wrist. I feel like I’m missing so many things, but like I said…it’s the worst trip and it’s becoming easy to forget a lot of what’s going on. At least I can remember the big things! 

So for now we’re back to living in the hospital basically with a night or two at our own bed at home to recharge. We don’t anticipate being able to go home as a family any time soon. Riley dictates everything, which we’re completely use to. Only time is going to help heal him at the moment (on top of all the actual medical stuff he’s getting), and I can only hope and pray we keep moving farther and farther away from my nightmare. I’m still trying to focus a little on self-care while we are here. I’m doing my makeup and hair more, even though we’re in the hospital. I’m trying to not think of how crappy he feels when I go to the gym. I’m trying to get some real sleep on nights I go home, even though I know both Riley and Chris probably are not sleeping as well. I’m focusing on still living our lives as best I know how right now, fighting the urge to crawl into bed with him, or just sit by his side 24/7 and hold his hand…because I would certainly rather be doing that.