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’ 30th 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 18th, 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.
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.
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