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.

A close call and new support

PICU trip #4, day #10…. Well today was going to be the day we go home, after a few attempts, but we’ve chosen to try and leave tomorrow instead. There is a lot of extra stress, on all of us, going home this time. So I’ll start at the beginning…or where I left off in the last blog anyway. Last Thursday Riley was still on the high flow oxygen in the midst of his cold, and we were hoping to get him well enough to be going home sometime over the weekend. Well he took longer than anticipated to start feeling and showing he was starting to get better, which we should have just expected. The weekend goal of discharge, turned into Monday morning, to get us to our genetics appointment Monday afternoon. That got shot out the window and our relaxing Sunday evening came to a screeching halt.

We decided to utilize our very expensive and experienced babysitters (aka, our wonderful nurses), and go out to dinner. Delicious pizza and yummy beer, it was nice to get out. Near the end of our meal, Chris got a call on his cell, a Seattle number he didn’t have in his phone and knew he needed to answer. Sure enough it was the ICU doc on the phone. He did a few minutes of talking before Chris said anything (of course the first thing he says to Chris is “Riley is OK”, but I don’t hear that!), and I swear I had a heart attack right there. Riley had a major desat, oxygen dumped down to only 8%, and was really blue and foaming at the mouth. He was bagged for about 3 minutes, and a code called, but came back up after that, looked at everyone like they were crazy. Of course not being there, it’s hard for us to be able to say, yes he got a big goober stuck, or he had a seizure, or whatever. However, looking at his monitor record, his respiratory never dumped or stopped, it actually worked harder. That tells us the likelihood of the event being a seizure, is very unlikely. From what we were told, how much stuff was suctioned out of him that was the culprit. We also found out that his medicine to help dry up his secretions had been doubled at some point, and that can actually end up making them too thick when the dose is high for the patient. So that didn’t help him either, he couldn’t move the blockage. He’s been relatively ok since, some desats here and there, but nothing that dramatic. Needless to say though, we did not go home Monday, and missed his genetics appointment.

So now Riley has been back on a small amount of oxygen (0.2 liters) basically since his event. We’ve tried taking it off, but he’s had a few smaller events. The doc’s thoughts are because of those, that Riley should be, and will be, going home on oxygen. Even though it’s a small amount, that little bit can give him extra reserves in his lungs, for when he does have an issue clearing his secretions, or possibly a seizure (which he did have a short apnec one on Monday afternoon). It was a bit of a blow and harder than anticipated for me to swallow this morning. I was so hoping that we could get him to the point of feeling OK without the oxygen, even for just during the day. We got all set up yesterday with a oxygen concentrator, tanks, and other support items for home, but still wasn’t prepared for the decision of oxygen all the time. Of course the hope is, that over time, hopefully just the next few weeks, we can start to decrease his oxygen needs. This will require someone watching him while off the oxygen to see how he’s doing, and if doing well, build him up on that time off of it. Then keep in touch with his pulmonologist in regards to how that is going, but definitely keep him on it at night for the time being when we’re playing around with day time needs.

The hardest thing right now with all of his respiratory issues, is the (preliminary) talks of a tracheotomy. The procedure itself for Riley, and all the life changing things that come with it, is a lot to absorb. We aren’t at the point to where it’s absolutely medically necessary, but docs want it circling in our heads in case we ever do get to that point. Coping with going home on oxygen for support is enough for me at the moment! Plus the fact that we missed our damn genetics appointment. The hope is once we get that ball rolling, if we can find some sort of answer, caring and preparing things for Riley, like the possibility of a trach, will be much easier. Rather than having 0% idea what the next few months or year brings, we have at least a 50% idea and can try to plan and prepare. Our ICU doc has been in communication with Riley’s geneticist trying to get his appointment rescheduled for the next week or two, rather than me fighting administrative people and waiting several more months. Hopefully we’ll have something on the books before we head home tomorrow. The best part of this hospital trip, minus getting Riley feeling better, is that my amazing BFF dropped her plans yesterday and today and took her first road trip with Riley's BFF, solo, to come and give me a hug. Totally surprised me and made my day(s). And Zeke said Riley's name for the first time while having coffee this morning, icing on the cake.

Fingers crossed prayers, good thoughts, etc. on everything as we take a new step in Riley’s care. This little boy is the light of our lives, and to have a close call like we did Sunday is our absolute worst nightmare getting way too close. If that were to happen at home….I don’t even want to go there. I have, and there have been many tears about a lot of things in the past few days. Here is to moving forward, making progress, healing, and doing (what he can) on his own again as we adjust to going home. 

Hosptial trip #what??..

Well for those of you who don’t know, Riley is back in the PICU. We brought him into the hospital Monday morning after a weekend of congestion and feeling crummy. By Sunday night it was getting hard to keep his oxygen levels in normal range without extra support. After being admitted to the peds floor, he got moved down to the PICU Tuesday evening because of how much he was coughing and struggling on all his gunk. He can be monitored closer here and given more intervention when needed. This pretty much came right away. He got put back on high flow oxygen almost right away after coming downstairs. After just constant coughing, hard secretion management and desating, it made the most sense to help open up his lungs and clear himself more. 

Yesterday and today are just filled with keeping him comfy, doing CPT (chest physical therapy), and letting him rest to start getting his cold out of his system. Hopefully tomorrow he’s feeling even better and we can start slowly taking away his extra oxygen support, and home sometime over the weekend. Of course we want him better at whatever cost, but also have to try and make his genetics appointment Monday! Otherwise I’m going to be begging the doctor to come and see him here, or we’ll be waiting multiple more months to get another appointment. Hate to keep having hospital trips setting him back in continuing to search for his diagnosis, and progress in PT! Fingers crossed that after this, “shorter” trip, he can manage to stay home for another good stretch and make some good progress on all counts!

However being here does have some (small) perks. We can do the whole “kill two birds with one stone” type thing and get some other medical related things accomplished. For instance, he’s lost some weight (also grown!) since starting the Ketogenic diet a month ago. Now that he’s doing well on the diet, we’re slowly adjusting his recipe and daily amount of calories (more calories usually brings putting more carbs/etc in play that you want to avoid). We’ll do this slowly to make sure his body tolerates the changes, but the first bump up happened yesterday. Also we’re getting closer to finding a good balance on helping the side affect of constipation, something I’m sure everyone wants to know, but it sure makes Riley happy! We’ve also gotten a chance to follow up with Vlcek since his apnec seizures and starting the diet. He, and everyone else, is thrilled to hear how big of a change it’s made so far in his seizure activity. Not counting the first week or two on the diet, we’ve only seen one definitive seizure since, the one over Easter weekend. And for him being sick and vulnerable to that right now, and continuing to not see any while he’s feeling like this, is huge. KNOCK ON WOOD. Trying to see if we can swing getting his g-tube changed out as well and avoid an office visit next week, we’ll see on that one. 

When we do go home, we’ll go home with a home care sick plan that all of Riley’s doctors have agreed on and are in the loop with each other. This will include having an oxygen concentrator (machine that takes in room air and converts it into pure oxygen) to use when he gets a cold and can try and ride it out at home. This way we’re not burning through our emergency oxygen tanks, like we did before coming in. We will have some sort of line drawn in the sand for when doing things like that at home just aren’t going to cut it and he needs to be admitted for additional support. Plus Vlcek is writing us a referral to see a pediatric pulmonologist at Children’s. This way we have someone who is in direct control of Riley’s respiratory issues. What else can I do to be productive and proactive while here?!  Fingers crossed we’ll be going home in a few days and we continue to make progress in working towards answers and getting him healthy and making his own progress.