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.

Learning to deal

Note: This is probably the most raw and emotional blog I have ever written. I fully admit I've been REALLY putting this off because it's extremely hard to swallow and talk about. Still no specific diagnosis, but things have come up recently that have skyrocketed both of our stress levels. It has taken awhile to get to the point of feeling even OK to talk about. I ask you to not comment things like "it's all going to be ok", "he's going to be fine", etc. Yes comforting words are nice and appreciated. However, having something like this be a possibility and not knowing what it could do to our family is very real, and I need for that to not be sugar-coated.

 

As always, it takes me a bit of ramble writing to figure out how to start my train of thought with these entries. The past two months have had its good moments, and it’s bad. Our lives are so much of learning how to juggle and deal with that. Riley’s smiles make it all worthwhile though, we will go through anything, for him (and each other). 

I sit here at the kitchen counter while he has his third meal of the day pumped into his stomach via his g-tube, half paying attention to what I’m writing, and half tickling his feet, listening to him growl (as he just woke from a nap), and making sure he’s “swallowing” ok, not having a seizure, breathing alright, and the list goes on. This is what I do basically all day long. If my full attention is not on him doing PT related things, playing, getting him to take his nap, etc; the corner of my eyes are constantly on him with a faster heart rate and higher blood pressure, scared something is going to happen that he isn’t going to be able to handle, let alone me handle. I’m sure I’m not the only mother that has feelings of worrisome for their children, but when your two year old has multiple medical issues (especially with no diagnosis and the uncertainty of new medical issues popping up at any moment), those feelings are so much more intense. And I’ve been feeling a lot of that lately, as I know Chris has too.

I’m the kind of person that isn’t good at talking about things, feelings especially, and sometimes all I want to do is talk about Riley and what he is (and us) going through, to make people understand and try and see our world from my eyes (or behind my glasses at the moment; that’s how serious I am about getting this written). Other times, it is the absolute last thing I want to talk about because a) I either need an adult/mommy/caregiver escape from reality for at least 5 minutes b) I’m terrified of having a panic attack and breaking down trying to talk about him, because with that comes all my fears in the “still unknown”, and regular daily unknowns; or c) I could spend hours on end talking and explaining things, and have no idea how to give a quick condense version of an update. That’s where his blog steps in sometimes, to act as my personal therapy (and to give you those updates!).

Riley has made some significant developmental progress, just in the past month or two; things that it’s even easy for me to notice, and I have the hardest time doing so being with him 24/7! He’s suddenly much more aware, bright eyed (of course time of day/meds are always a factor with this), reacting to noises & things going on around him, starting to communicate the want for a toy with his eyes, etc. He’s reached about an hour per day in his stander (sometimes he could probably do a little more, and some days he needs to come out a little early), and his leg muscles are becoming much more noticeably strong(er). When having him sit up in your lap, he really just needs about 25% help in holding his head, and he does all the rest! For a short period of time anyway. He’s head is still very heavy and he hasn’t gained much more in neck muscles, but he’s been working well from the tummy up. He can keep his back nice and straight, stay stable without slumping over, etc. Just has to do it his own way, a little backwards, but it’s very good progress, and much quicker lately.

(Just holding the back of his head here, he's doing the rest; last Sunday night)

We’ve also hit many speed bumps over that period of time too. After an attempt at lowering one of his seizure medications, Riley had his first big apneic seizure since starting the ketogenic diet in March. Had a clear EEG afterwards, and came home and had another seizure. So that med is back up at its original dose. He went another few weeks, and then had another random one. Went a few more weeks, and then started having a handful a day, for several days. We ended up having to raise a different med up a dose to help get them to stop, and it became obvious after we got them under control that he just was feeling like CRAP. Well, now we know where that cluster came from. But still seeing, and dealing, with your child randomly stop breathing, not knowing how long it’s going to last, if he is going to come out of it on his own, how much you need to intervene, it NEVER gets easier. I swear I have a heart attack every single time. Then it takes multiple weeks of him proving he is doing well before you even begin to relax a little. 

He’s been seizure free for 16 days now, and I’m finally letting out a breath, as I hope they’re gone (for now) as he seems to be feeling much better. But we are also gearing up for surgery on Friday, and with that brings back the fear of him having some. He’s scheduled for an 8:05amsurgery at Children’s, a tonsillectomy (removal of both tonsils and adenoids) & plastic surgery to remove the two cysts on his face. With his airway being messed with, the probability of needing a breathing tube for awhile, isn’t off the table; in addition to a difficult recovery attempting to manage (and hopefully swallow) his secretions. Then with having to fast his diet before, have anesthesia, and him probably feeling like crap after surgery, brings up that fear of seizure activity. Please many prayers, fingers & toes crossed. We’re expecting and planning for a longer than anticipated stay, mainly so we’re not disappointed!

Now for some news. Most saw (via FB) that insurance AMAZINGLY overturned their denial and have now approved for Riley to have his whole exome sequencing (genetic testing) done. Even the nurse that called to tell us was so happy, as she doesn’t get to say that very often. Needless to say on our end, the shock still hasn’t quite worn off. We go in mid-November to sign all the paperwork w/genetic counseling and having mine and Chris’ blood taken (they already have Riley’s banked), and off it goes. I’m told that results really could take anywhere up to six months….more waiting, should that really be a shock? So MAYBE have an answer come spring time (a year after our appt with his geneticist), it’s still not a great shot (as he’s already had smaller genetic panels done that haven’t yielded anything, not specifics anyway, a few…”oh that’s interesting, dunno what that means”). 

Good news done. Now this isn’t 100% FOR SURE bad news, but it’s still something that we’ve had to deal with, learn to swallow, and learn to be OK with still not knowing and having it be a possibility. We’ve never had an actual possibility in the past almost two years of searching. After Riley had his MRI done in August, we met with Vlcek at the beginning of September to go over the results. It’s still not clear, “Riley has this”, but for Vlcek to actual bring up and talk about a few different things that he may be seeing, is HUGE. He has never done this before, and we have a very good relationship with him now that we know he wouldn’t discuss this with us unless it had merit. There is a possibility that Riley’s underlying disorder is a demyelination or dismyelination disorder (http://www.news-medical.net/health/Myelin-Demyelination-and-Dysmyelination.aspx). Direct quote from his MRI results: “Delayed myelination versus hypomyelination, with the pattern of myelination most consistent with that of an 11 month old infant. Myelination progressed between the December 2013 and July 2014 studies, but has only minimally progressed in the interval”. So we can’t say for sure that he definitely has one or the other, just that it’s a possibility. There aren’t many myelin experts in the world, the top dog that we might be consulting after we get genetic results, is based in Amsterdam. Thankfully Vlcek has already spoken with her a few times throughout his career, if/when we need to, he’s prepared to reach out; we just want/need his genetic results first so she can have all his information to help.

The fact of not having a diagnosis, not knowing what Riley’s future really looks like, always waiting for the other shoe to drop with a new symptom or life threatening event, takes its toll. We’ve always known, and feared, in the back of our minds that Riley may never develop and walk. We’ve known, and seen firsthand more times than we’d like to remember, that we could lose him earlier than we could ever imagine. Those words are VERY hard for me to write, let alone say, but it’s a true fear. And with his many apneic seizures (a few we only got him back was because we were IN the hospital), many many respiratory failures (all thankfully in the hospital too); it’s not easy knowing that a degenerative myelination disorder is on the table. We’re already been considering the need to sell our house in the next year or two to have something more accessible if he truly never does/can become mobile, but the not knowing for sure on this, eats at you more than actually knowing (where you could accept, deal, plan, etc). 

I’ve had my fair share of tears, panic attacks, and spikes in blood pressure, sometimes you wonder how much you can take. But I have no choice, I may not always deal with the ups and downs, news verses no news, answers, questions, etc; but he is worth every tear, punch in the gut, and heartache. Because on the flip side, I get to love this goofball with all that I can, give him the best life and experiences as possible. Bask in his smiles, giggles, kisses and snuggles. Fighting for him and his life is worth more than anything. I can’t not, it’s the cards dealt, and I wouldn’t trade the hand for anyone else. He is worth every moment, good and bad. Sometimes we just have to fight a little harder for the good. 

Summer: doctors, slow progress, but normalcy & content

I apologize for how long this entry may end up turning out to be. I apologize for going so long without an entry with updates. I think I just needed a little bit of a break away to focus on the current things to do and to enjoy the healthy time with Riley home. As of Thursday, we’ll have had him home for a solid four month stretch without a (unplanned…or planned too actually) hospital trip. Ironically, Thursday is the day he has an MRI scheduled at Children’s. But it’s scheduled, and just an in and out deal. Appointment really…with sedation. Having Riley home and healthy this summer has been absolutely amazing. More than amazing really, I don’t think I could have asked for a better summer, under the circumstances. We’ve done a lot. Checked a lot of things off the list (taking advantage of being healthy), gotten out of town numerous times, lots of BBQs, laughter with friends and family, lots of smiles & pictures; pure content and normalcy. 

As summer starts to wrap up (and football season begin), we still have lots more “to-do”. But if we can manage to do all these things and continue our trend of staying out of the hospital (unless planned, which will happen fairly soon), that is our goal. To continue to make small improvements, and take the next step (or roll in Riley’s case) forward. I could make this the longest drawn out blog with all of his updates over summer, and things coming up, but I’ll just make a “mini” recap (and now that I start typing it out…it’s not all that mini!).

·         Riley received his stander (fully covered by insurance, cost over $5k if not), and is slowly working on increasing time in it. He’s gotten use to being in it and can now move his arms about with ease, mostly with putting his fingers in his mouth. He’s at about 15min per day (circulation changes begin to happen in his legs after as they’re not use to being up and baring weight). Once we get his AFO’s, we will increase time and number of times per day.

·         We met with is Ortho doc for the first time and had a handful of X-rays to check his bones and joints. Surprise it reveled that he has low bone density. From not being able to be up moving around, that’s not overly surprising, and being on the Keto diet doesn’t help (eating all fat). He’s going to have a bone density scan here soon to see if it’s all strictly from his hypotonia, or if he possibly has an underlying endocrinology issue (like the blood having too much calcium and not enough in the bones; that’s an idea). Also, the muscles in his hips are super tight, so he can’t lay his legs straight and flat, without bending his knees. We are working in PT right now on massage and stretches to help with that (also the more we can get him in his stander, the more that can help too). 

·         Riley also got to meet with his Rehab doc for the first time and get his prescription for his AFO’s (which have been fitted, Seahawk customized, and picking them up on Thursday). He also has a referral to start aquatic therapy through a local company, which we will be starting sometime this fall. He sure loves being a fish, so we can’t wait to get that started!

·         We drove down to Gig Harbor to pick up the boy’s new ride, aka customized therapy stroller. I definitely get some interesting looks from strangers trying to figure out exactly what it is, as it’s not a wheelchair, but definitely doesn’t blend in with “normal” strollers. Whatever, he’s so much more supported and it can do way more for him and us. Kind of looks like his own customized ATV the way it’s made! He’s slowly starting to get more use to riding around in it. 

·         I took Riley to his first dentist appointment, and it has been the first doctor’s appointment in a long time, where I’m told everything looks NORMAL. Can’t even tell you how happy that made me walking out of the appointment, to have something to not need to worry about. He has all of his teeth (poked through or not), yes coming in a bit slower than normal, but not crazy slow. And it’s funny because now most of his teeth that he didn’t have just a few weeks ago at that appointment are trying to come through now! We’re told that since he can’t eat normally, that he doesn’t have that constant stimulation to bring his teeth in faster, and bring the gum line up. But it all looks good, and he’s gotten really good at using his fingers for stimulation!

·         Finally met with ENT, and they agreed his tonsils need to come out. The plan (as of now) is to take both tonsils and his adenoids. Most kids, this could be an in and out procedure, but with Riley’s medical history & risk with anesthesia, we are planning on a minimum of one night at Children’s PICU, if not through the weekend, and into next week, dependant on how he does. We won’t be surprised if he ends up needing to be intubated afterwards, due to his throat being sore and having difficulty managing on his own after having that area messed with. The hope is, whether big or small, that after surgery and recovery, having these suckers gone will help his obstructive sleep apnea (which in turn helps seizure control), and ability to swallow. Whether it helps minimally to control his secretions better, or even more to build up controlling that and someday try something more. For all we know now, he doesn’t want to or can’t swallow well because his throat is sore all the time from his tonsils. We will see! Surgery is scheduled for October 30^th.

·         Since his seizures have been so well under control, we got to decrease one of his medications, by a little bit. It’s a great step in the right direction though! We see a small seizure, or what we think is one, roughly once a week, or every other. Obviously we can’t watch him 24/7, nor does he have an EEG attached to him constantly, so that’s our estimate. But it’s night and day since the start of his diet, and we will take it! It’s actually been almost 6 months since his last EEG, when he was hospitalized for unstoppable apnec seizures. So we will be having one done here in a week, to get a real idea of where he is at on a baseline with his seizures. 

·         Riley also has a repeat MRI this Thursday, his last one was in October that showed some abnormalities from one of his first antiseizure med, and other abnormalities that were questionable. The ones from the med should be gone now, so when we meet with Vlcek on the 3^rd, we will hopefully have some updates and answers from his MRI, bone density scan, and EEG. And some sort of plan for the near future. Other future things we have coming up are our first trip up to Sequim in over a year, dermatology appointment, follow-up pulmonology appointment, continued PT, continued exome testing appeals process with insurance (and at some point send off and wait for results, once $$ part is taken care of), tonsil surgery, and the holidays. I’m sure it won’t take long to add many things on to that list, but for now, after an eventful summer, it’s enough!

Thinking back to his first neurology appointment in December 2013, thinking it wasn’t going to as big of a deal as it turned into…it seems like so long ago. We thought at the time maybe we’d have some sort of answer and prognosis in six months to a year; never thought we’d be a year and half plus into testing and be nowhere near an answer. The closest chance we have is when his whole exome sequencing is finally over and done with, and by the time insurance and $$ is worked out, 12 weeks or so for the test to be processed, it’ll be January. And that’s a 50/50 shot at best, and if it still yields nothing, it could take multiple more years, if we ever have one. 

I try very hard, most of the time, to focus on the present, keeping Riley healthy, seizures under control, progress in therapies, etc. However, there are times more and more where I wonder what his future looks like. Will his stander and PT help to eventually get him to stand and walk on his own? Will we someday need to sell our house because he’ll get to big to carry up and down the stairs? Will he be able to go to school like a normal kid his age, or even to special ed? Will his seizures or serious respiratory problems (when sick) someday get the better of him, and take our precious boy (we’ve already been through many close calls)? Will we be able to afford an additional child, and will he/she be at risk for being born with the same condition as Riley? Those are the days where I wished we had even a cloudy crystal ball to help give us some sort of idea. 

From a parent’s stand point, this why genetic testing should be considered MEDICALLY NECESSARY, because it could be our cloudy crystal ball, if not a clear crystal ball. Then we can at least plan accordingly, make sure Riley has the best care to help him succeed 200%, have other organs/systems in his body checked out, etc etc. What if he has some genetic condition that could ultimately start affecting his heart in the next year or two, and we have no idea that he should start seeing a pediatric cardiologist. Insurance companies, pharmaceuticals don’t see (or care) a specific sick child, how their decisions and actions affect them and their loved ones. They have a different goal in mind. Yes there may not be some sort of cure or treatment for a specific genetic condition, but knowing what could and probably might happen, to plan and care accordingly, could mean as big of a difference between life and death. So if we still don’t have a better idea after genetic testing, it’s going to be a lot of becoming an even pushier parent/advocator. Pushing doctors to do everything they can to help care above and beyond for Riley. Pushing specific doctors for additional ideas, whether it’s theirs, their colleges, or some other doctor half way across the world. Getting online and doing everything we can to connect with other families, find answers ourselves in what we can do for him as far as new doctors, clinical trials, getting on message boards, etc etc. I’ve already started to just chisel at technology to find some sort of help or direction, but unfortunately until his genetic testing is complete it’s hard to know what direction to really go. 

Until a better, or different, direction comes into view, it’s more of making our own progresses at home and with our doctors. Doing what we can without answers to keep this goofball healthy and thriving. 

Appointments, progress, waiting & "terrible twos"?!

There are days that I feel that we are completely starting over raising our child. That we have a newborn stuck in a tall awkward two year olds body. And in a lot of ways, that’s exactly where we are. A year of trying to control his seizures, and the toll they took on his brain, is like a year thrown out the window in any kind of developmental movement forward. Add on his medications that he’s been on, and some that he still is, and you move back even farther. There are some days to where it frustrates me so much, that it’s hard to get Riley to understand things that a typical two year old would. There are days that very hard wall of communication, is hard to chisel at. There are days where I don’t feel like we’re making any sort of progress at all. And I’m sure I feel like that more than anyone else, because I’m with him the most, so it’s harder for me to see the small advances and achievements, compared to others. But then there are happy days filled with constant smiles, good naps, awesome struggle, effort and frustration to do his hardest at holding his head all by himself, and so much more. And there are days like today where he thinks he can stay awake all day long (with many smiles), pound his feet and complain (because he’s tired), and makes dinosaur noises all day. These are days that I try not to laugh at the ridiculousness of his attempts of “terrible twos”. 

Progress may seem slow to us, but we have so many people amazed at how much he’s moving around, how much he kicks his legs and how strong they are, how much more aware and “talkative” he is, etc etc. So even though developmental progress for us may seem slow, and I’m sure much slower than “normal”, it’s nice to hear what a difference others are seeing in him. Makes us, and him I’m sure, feel good. I do my hardest to not pay too close attention to other kids. And that may seem weird and may not be the best way to word it, but the more attention or the more I watch them, it becomes really easy for me to think “Why isn’t Riley doing that?”, “Riley use to be able to do that”, etc etc. There are things a three month old can do, that Riley can’t, and things that a kid his age can do, that he can’t. Whether I know these adorable faces or not, in the end I’m always so happy for their accomplishments and silliness, and know that it may take more determination and effort, but someday, sooner or later, Riley will be able to do those things, or do them again. 

Beyond positive progress for Riley, there are many other things we have to be happy about. Like the fact that he has not needed to go back to the hospital in over two months. We truly believe, that if we had not gone home with his cough assist machine, he would have been back already with respiratory issues. It’s amazing how this small very techy looking machine can help simulate a cough for him, and keep him moving all those boogies around throughout the day, so they don’t end up settling and causing issues. We still have to suction him, some days more than others, but he does fairly well at coughing and trying and knowing he needs to do something with the boogies! It’s very nice to see that he understands that he needs to put effort and work at this himself too. I can’t explain the look he gets, but I’m just gonna use the “being his mom, I know he knows”. You can tell that he probably understands way more than we may give him credit for. 

We are definitely taking this (VERY LONG) stretch home and healthy, to enjoy life again, and also to get shit done, for lack of better explanation. I had my first real mommy time away from the boy, and flew down to the bay area for three days/nights with my girls. I was thrilled to get to see my aunt and uncle in San Fran for a night, and then the besties and I had fun exploring parts of Oakland, and road tripping through Napa Valley on our way to Calistoga. Can’t forget the stop in Santa Rosa at Russian River Brewing on the way back! I certainly brought back presents. It was super nice to get time off and also really weird at the same time. To not have to constantly pay attention to my child, do something for him, etc, is really weird. Then we had a blast celebrating the monkey’s 2^nd birthday, and then took off for our PacNW road trip. Stopped in Hood River to see great grandparents and try out some breweries. Then onto Bend for a few more days, and many more brewery hopping. By then we were pretty burnt out on beer, and headed back to Vancouver to see Nana and Papa for the weekend before heading home. Riley did awesome; he’s such a good little traveler. 

As far as getting shit done, I swear my to-do lists just grow longer and longer each week. Riley had a follow up with his neuro dietician at the end of May, and everything looked pretty good. He had gained some weight back and was at just over 27lbs. Since he was in the 60^thpercentile, we wanted him to stay around there, and not just keep gaining, which would make it harder for him to move around. So we dialed back his keto formula recipe a bit on calories, unfortunately, it was just enough to where he’s now lost two pounds since. So starting in the morning, we have a new recipe with higher calories, to hopefully put those pounds back on. It’s such a science finding the right amount of calories with this diet, because the more calories, the more carbs and possible seizures. So we’ll just be watching him close as we increase this weekend. Thankfully though, the last known seizure that we’ve seen was the beginning of June! This diet isn’t a cure, but if it has certainly dialed back his epilepsy this much, we will take it! He’ll have another follow up at the end of August, and then we’ll start talks of an updated EEG and possible small adjustments to his meds. I also managed to get his July sleep study moved up to the end of May, and we’ve checked that off our list. He did great, slept better than I did! Of course they had all the bells and whistles turned off, so I had no idea what was really going on, and what all was registering while he slept. We finally had his sleep doc follow up yesterday, and it’s certainly not the worst news in the world, but not awesome either. It’s not totally surprising that he has obstructive sleep apnea, especially with his hypotonia and current swallowing issues. It’s rated moderate, so for now he doesn’t need any extra assistance like CPAP or BiPAP, or higher oxygen flow at night. But he does still need to stay on the 0.5liter of oxygen at night, to help give a little extra cushion. Ok fine, the concentrator stays for now. Just wish that thing wasn’t so bulky and heavy. However his doc does think his tonsils need to come out. They aren’t touching, but are big. It’s hard to know to what degree his tonsils play in his obstructive apnea, but with a hypotonic child who also has epilepsy (most of his seizures stem from some sort of sleep), it can only help, if even a little. So I’ll be calling Children’s ENT department Monday to schedule a clinic visit, and then schedule his surgery. My guess maybe next month, by the time he gets seen; and with his history will be an overnight stay to make sure everything goes OK, especially with probably having to tinker with his diet a bit for anesthesia.  At least it will be a planned hospital trip!

And an update on his genetic testing. Wanna venture a guess on how far it’s gotten?! That’s right NOT far. It’s like there is a process before a process, and something that takes time, adds even more time to get it going. Basically, the last update I got from Children’s was that the Excome committee agreed to the testing, after one of the neurogeneticists goes over his MRIs. And it took a month to even get this answer from the committee, because they only meet once a month, and when we had our May appointment with his doc, we had just missed that May meeting, so we had to wait for June. Then a few more weeks to get that update. And I was told that once the neurogeneticist goes over his MRIs, then it’ll go to insurance for pre-authorization, and to call back in a few weeks. Well I have called today and left a message for a current update. I will not be surprised one bit if they come back and either tells me they haven’t had time yet to review his scans, because two of the three docs are on vacation, or that they have reviewed and want an updated scan. His three scans are from December 2013, July 2014 and October 2014. So he’s now two, much bigger, been off big meds for a long time, and it’s been 9 months without an updated scan. Now, I don’t know if they will insist on having it that done, if needed, before going to insurance, or that they can do both at the same time; which I certainly hope. Either way it’s coming that point in time where he’s gonna need an updated MRI anyway (according to his neuro’s). So I’m basically planning on that happening over summer, during our genetic waiting process. But while we wait, hopefully within the next few weeks, Riley will have his stander and be working on slowly getting himself up right! Insurance approved that piece of equipment, totally covered. They “mostly” approved his therapy stroller, the whole thing, minus all the straps that keep him in basically. This will be a good chunk of change if insurance decides not to cover that, but kind of need them! I’m also starting the process of appealing insurance’s decision on out right denying his bath lift. They see it as a comfort/convenience. Don’t get that it’s certainly not for me lifting a slippery long and awkward kid in and out of the tub, who can’t help me, and risk hurting myself in the process. Signing over rights to have Riley (who is also my doc) appeal on our behalf. So will see where that goes, will just take lots of time I’m sure.

  

So maybe by Christmas we’ll have some more answers, direction, therapy progress, insurance progress, etc etc. Nothing about this journey has ever been quick, why should it change now. If anything, it has certainly taught be how to be patient (and stop laughing, I know who is!), and how to advocate and fight like hell to help your child succeed. He certainly has his own patience and a huge dose of stubbornness and fight in him, that he’s trying so hard to get out. He understands things that he maybe should be doing, or wants to do, and can’t…and you can tell it annoys him, but it also makes him fight harder. I always thought I was stubborn, and then I had a kid….he has taken it to a whole new level, and I couldn’t be prouder.

On the path towards "normalcy"

Sitting down with my morning coffee, while the boy naps, trying to figure out how to start another one of these. There are some days that it’s relatively easy to spring out of bed and get the ball rolling for the day. Get the boy up and dressed, play for awhile, put him down for a nap and get things done around the house, get up and play more, Daddy comes home from work and I escape from the house for a bit to go to the gym or run errands, and then all relax together as the day starts to end and the monkey gets ready for bed. There are other days, where I feel like I could lay in bed all day. Whether it’s just to snuggle this precious face and soak in how happy I am to have him home, or to hold him tight and pray he continues to do well and not scare us. Sometimes finding a balance with a special needs child who has been through so much in his few years of life, especially his second year, is not always easy. A lot of the time you want to go about your routine, with them being a big part of, and all is right with the world. Other times, you just don’t want to let them go; especially not knowing their future. Maybe someday we will have a better idea of what that future looks like, and there is still that chance (and it’s more than a small chance), that we won’t. Riley has been home from his latest hospital trip for 16 days now. Yes, until he reaches the end of the month, I’m counting in days. You know how our last year has been, I’m still holding my breath while we get back into that routine of normal life. I very well could end up holding my breath for longer than that, but taking a little bit at a time. 

Since being home, it’s been a bit of a struggle to find a normal sleep routine for him. Being in the hospital, poked, prodded and messed with all the time, sleep routines get thrown out the window. Then coming home, it takes forever to ease away from up and down, up and down. Right now, Riley likes to be up super awake and interactive from like 4pm on, until he finally tuckers out between 10-11pm (even though he gets put in bed with lights out by 9pm). Then he wakes, usually, at least once in the middle of the night. Thankfully he just jabbers to himself for anywhere from 5minutes to an hour, doesn’t need us running in (but that doesn’t mean we aren’t awake listening to him!). Then usually up when daddy gets up and starts his feed at 6am, jabbering away for an hour or two, then he’s ready for a big morning nap, anywhere from 2-4hours. Then slowly wakes up more and more through the afternoon. Hopefully someday we’ll be back to him falling asleep earlier, staying down for the most part, and a (somewhat) shorter mid-day nap. Yes, I do realize that a lot of babies and toddlers have crappy sleep routines, but he’s always been pretty good with his, until he has a hospital trip and we have to redo it all again. Just like any other kid, it takes time. And COFFEE. 

That’s really the only thing I think I can complain about, on behalf of Riley, since coming home last. Wait a minute….that’s a GOOD thing. It’s a NORMAL thing.  That’s right, I’m dealing with something a normal parent deals with, from time to time. Can you see me dancing in my chair (and laughing at myself)?? Shall I continue on with the information I’m sure you all are waiting and looking for? Thinking in your heads, “Krista, stop rambling and give me the good stuff”? Ok, but I’m going in order of how the past two weeks have gone, so you’ll just have to read everything to find what you’re looking for. 

Last Monday, Riley and I went and followed up with the pediatric pulmonologist from Swedish. Riley had been discharged with sleeping with .25 liters of oxygen at night. Not a huge deal, he’s not on it 24/7, which had been talked about originally. But we do have this big noisy concentrator in his room now, one more piece of medical equipment. Grr. Of course, concentrators aren’t made to go below 0.5 liters, without setting off this really loud annoying alarm, so that’s where he’s going to sit at, whatever. The doc was much happier seeing Riley healthy, feeling well, and closer to a baseline. However, beyond that, didn’t get much in the way of direction, things we should do, etc. Just see how it goes kind of thing. Well our last year has been a see how it goes, and it has gone with many hospital trips. We need plans in place at this point. We went to Children’s that Thursday and saw a pulmonologist there, who I love. She had ideas, plans, and was horrified by the trach talks that we endured while in the hospital. Done, she’s he’s doc! She wants Riley to have an updated sleep study done, as the two he’s had where during his fall PICU stays, where he was sick &/or dealing with seizure related issues, nowhere near feeling well or at a baseline! So how would those be accurate? Exactly. I took Riley in yesterday morning to see his sleep doc with Children’s, and she’s in agreement; and wants it sooner than a typical scheduling (on average 6 months out!), so he’s scheduled for the night of 7/20; seems way farther away than only two months! Hopefully with that we will be able to determine whether he truly needs that O2 at night at all, maybe just use it while sick, and if he needs to be seen by an ENT (ear/nose/throat doc). 

I wrote out all of Riley’s doctors, nurses, therapists, etc. names and contact info yesterday so we can have it all in one place, he’s working his way over to being a Children’s kid. We’ve determined since we like, and trust, our SCH pulmonologist, that since most of his hospital stays are respiratory related, or end up turning into that, he will be visiting Children’s from here on out. We will miss our Swedish nurses greatly, but he’s reached the point to his care needs to be at SCH. Vlcek has ties to Children’s, so for the time being, especially with seizures under control, he will continue to be Riley’s primary neuro. However, one of those doctors and nurses on his list, are his Children’s geneticist and genetics nurse; FINALLY! Riley had his appointment this past Monday, and as I expected, we were there for two hours. A lot of going over Riley’s history, family history, and ideas. Riley has had two genetic panels (test 50-100 specific genes, when there are 20k+ in the body), one for epilepsy and one for developmental. Both showed some variances (odd things that don’t tell us shit), but didn’t help in the way of answers. In fact, one showed a slight mutation of a specific gene, that could mean he has Angelmans Syndrome, which he got that exact mutation from me, but every doctor he has ever seen is in agreement that, that is definitely not what he has; the mutation is a fluke. 

We walked away from his appointment happy to have a direction and plans set in place. Happy that we didn’t come out with some huge disappointment. Our plan is to move forward with the whole Exome Sequencing (a technique for sequencing all the protein-coding genes in a genome (known as the exome). It consists of first selecting only the subset of DNA that encodes proteins (known as exons), and then sequencing that DNA using any high throughput DNA sequencing technology). I had talked about Genome Sequencing in the past, but this seems to be the determined route, by many of his doctors, to go with. Either way, it looks at all the genes, is very expensive, and hopefully can give us an answer. But odds aren’t great, since he’s had the other two small panels done, odds are 50/50, at best, and that could be pushing it. At this point though, we have to exhaust all options, and for all we know it could show something funny again but not give us a good answer because much just isn’t known. That’s where being a part of the doc’s research group could help. Riley is now a part of a UW research group for Molecular Analysis of Genetic Neurological Developmental Disorders. All it took was some of his blood and our saliva, signed paperwork on all three of us, and he’s in. Now finding any answers, or abnormalities, or just something funny looking, through the research, could take just as long as the Exome Sequencing (12 weeks once it goes through pre-authorization process), or much much longer, if anything ever comes of it. But the nice thing about having him a part of this group, is that new genes are being understood more and more, each month (especially epilepsy related). So even if we can’t get something clinically, on a research basis could find something on the newer end, which can be looked into further. And that could be sometime this year, or even 10 years from now, when genes are much more understood. Plus, it could help other kids like Riley find answers as well, and as parents, we are thrilled to help with. 

So for now, we do more waiting. We have a path carved out with genetics for the time being, and we check in on a regular basis (or maybe that’s me bugging on a regular basis…). We move forward with keeping Riley healthy, and working with his new pulmonologist and sleep doc on possible “healthy” respiratory issues. We keep Riley going with weekly PT, and push him as much as possible, without pushing too hard. We continue to work with PT and our special equipment vendor on ordering Riley a stander, bath seat and therapy stroller, hopefully we will see all of those in the next few months. We enjoy our summer, and routines of normalcy. We celebrate our strength, courage, and enjoyment of Riley’s second year, with his birthday next month. Maybe as summer comes to an end, we’ll be in a much different place than we are now. A positive place with a stronger boy, things to help him continue to grow, confident respiratory status, and fingers crossed on something coming in the way of genetics.