New chapter

I exhale with a sign of relief as I count up the days….101. 101 days since Riley has been home from the hospital and thriving. As it gets darker earlier, the rain rolls back in and the leaves change beautiful colors, our happy summer has come to an end. And I’m happy to say that we are starting a new season at home, rather than in the hospital. And as that new season starts, filled with comfy sweaters, changing diapers in the back of the car trying to avoid the rain, hot apple cider, school in full swing, also comes new fears. Fears of what comes next. It’s now officially cold season, we’ve gotten our flu shots and anyone who wishes to be near Riley will be as well. But unfortunately it doesn’t create a force-shield against germs, bugs and infections. A cold that could be annoying to you and me for a few days, more than likely puts Riley in the PICU with pneumonia, and possibly on a vent. The next time this happens, we have no idea if it will be the last.

We know that we can do everything in our power as parents to protect our fragile little child, but it only extends so far. We’re not going to live our lives in a bubble, have Riley never leave the house, not allow public interaction. Yes, there is a lot we will avoid, but even knowing we will be taking chances here and there, isn’t going to stop us from giving him the experiences and life he deserves. Like the fact that he’s going to get on probably one of the most germ-iest things in the world in a matter of 25 days, an airplane. Yes, we will take every precaution, but in order to get to “Mickey’s house” in Florida, it’s kind of the best option. And as we know that we live our lives day to day and week to week. Like right now our goal is keeping him healthy from whatever bug is going around to make it down south, this weekend, to see Nana and Papa, and to see Auntie Staci, Uncle Martin, best buddy Zeke and miss Maybe Baby (Mabel). But beyond that, we are planning Riley’s Make-A-Wish adventure to Disney World at the end of the month, for a 7 day/6-night trip to go to “Mickey’s house”, see all the animals and swim in the ocean (or gulf!). 

Now, the last time we flew with Riley, and it was our first with him, seemed like such a pain in the ass at the time. Now, he himself did amazing. Wasn’t fussy, didn’t have any medical issues (on the planes anyway), behaved very well. Lugging a car seat through an airport and on an airplane is probably one of the hardest things about traveling with children. But it’s also one of the most normal! Thankfully this time we have a special bag to wheel it in, and we should be the first, if not one of, the first to board and get settled. Now the only other “extra special” item that I can think of that we took with us last time beyond normal kid stuff, was his feeding pump and special formula, that I literally almost yelled at a TSA agent in Raleigh to not open them. We will have that with us again this time, formula is a bit different, but still a liquid that cannot be opened. But we will also have the following extras with us, and all as carry-ons as well, somehow. BiPAP machine & tubing, suction machine, portable oxygen concentrator (which I have to get a doctor signed form for), oximeter, cough assist, and feeding pump. You think you have it hard traveling with your kid?! I hope that he will not need any of this while on the airplane, but we certainly need it with and near us just in case! Also the last time we did major travel with him like this, he was a champ putting up with it, but it did wear on him pretty good, and that’s when he had his first apneic seizure, and the only time we’ve ever had to call 911. His seizures are very well under control, but any stress on his body brings the threshold for everything down, so we know and will have to keep in mind to take things easy, go at his pace, and to no way overdue anything. We have main experiences that we will make happen, beyond that, it’s just time as a family to enjoy together, and with his Nana too!

I decided to look through a journal today, that I was given while Riley was inpatient this last spring. I’ve always loved writing, and it’s like therapy for me. I almost wish I had my old diaries and journals from when I was younger, just to read back through, roll my eyes and wonder why I was so weird! Not that anything has changed! I decided to use this journal to make a book of ‘Memories of Motherhood’. Things good or bad that will not only help me not forget thing about having Riley that gave us joy, upset us, was hilarious, or just happened good or bad. I haven’t looked at this since we were discharged in June, 101 days later I’m opening and reading through things I wrote down, almost 20 pages worth. Not even half the book, and I remember telling myself that my goal was to completely fill this book, by the time that I have to say my final goodbye to my little monkey, and now that time has passed, he’s been so well, and we start this new season, I think it’s time I start this back up again. Some of what I wrote makes me smile, some I laugh, others I cry. But I never want to forget or not experience (certain) things with or about him. I’d like to share a few I thought you guys may like:

 

·         The first time you stood. In a stander at the Encompass clinic, sizing you for your own.

·         The first time you walked, in the pool. Floaty around your head, you loved it, smiled walking to me. And made me cry.

·         Your first big blow out in the car on the way up to Sequim for the 4^th of July, at 12 days old. Me yelling for Daddy to help because I couldn’t figure out how to clean it up without getting it all over the car. (Now Mommy is a pro!)

·         The first time Sadie laid still and let you pet her, and then kissed your face.

·         The complete joy on your face while watching the octopus at the Seattle Aquarium (King Kong) swim around. Of course a stuffed octopus was purchased after that!

·         Sneezing prunes all over your high chair and thinking it was hilarious. All downhill from there on not sneezing out your food and laughing.

·         The feel of utter terror when you had a massive apneic seizure on the peds floor at Swedish. Having a code called, the room fill with people & a crash cart, watching, crying and helpless.

·         Learning to play catch with your koose ball in therapy.

·         “Oh, Rywee be there mama?”

·         Your WTF face you made at Zeke when he was making his dinosaur noises at our house (when you guys were about 6months).

·         Going “boom” on Mommy & Daddy’s big boy bed.

·         The way you grab on our fingers so tightly now, compared to anything else and won’t let go.

·         The amount of stuffed animals (buddies) you have!!

 

Now, if you know me at all, I’m a planner. I’m an organizer. I’m not patient (I have gotten better, just not great). Trying to live our lives in the such “day-to-day” mentality, is VERY hard. Some days and weeks, you kind of just get into the groove of things, the boy is doing well, and things just flow. Other times, like with planning his wish trip and coming into the holidays and cold season. I like to KNOW what’s going to happen and when. I can’t plan how the rest of my child’s life is going to go, nor do I want to. But trying not focus on how that is going to play out, let alone end (and when), is getting harder and harder. We were so blessed to go through the hell, sitting on the edge of the cliff this spring, to being able to take steps back and get better and come home. I still remember picking Riley up for the first time in months, by myself, and getting to hug him. Which is a much different experience than having multiple nurses try and move him into my lap to snuggle. That independence and mommy/Riley moment, I’ll never forget that feeling of being so thankful.

But knowing that feeling will end someday, tears you apart inside. I don’t know which is worse, even though I’ve experienced both. Knowing your loved one is going to die and getting time together and being able to say goodbye. Verses having it be sudden and unexpected. I don’t know how else to explain it other than the knowing version, is like grieving while your child is still here, every day. My child is still alive, smiling, has a big toddler attitude, and yet every day I have to find a way to deal with the fact that one day he won’t be. One day I won’t get to hold him in my arms anymore and see his smile. We’re told that this could be anytime between tomorrow, and a year or two from now. I certainly hope and pray for the latter, but I also want and need to be able to accept, deal, and live like it won’t be. I can’t even imagine what our lives will look like five years from now. And five years ago when Chris and I married, I had this picture of what that could and would be. But I will never regret the surprise and joy of having Riley be in and a part of our lives.

Soaking in the summer

Finding life between the undiagnosed and the "diagnosed", is for a lack of better word...is interesting. Weird. Comforting. Peaceful. Terrifying. And happy. Who knew this world could be filled with so much, the very ends of each extreme, and yet as my beautiful Grandy would say if she were here, "this too shall pass". Which can amazingly be applied to a lot of things in our life right now. The juggling to get use to new medical equipment and a new home routine, has passed and is something we just do without having to think about now. The overwhelming fear of diving back in, head first, to being responsible for a medically fragile child, without "the professionals" (as you all know I'm a "real nurse" by now), is almost passed. Having a "diagnoses" for Riley, but no real idea on how much longer his life will be, or what it will look like, may not be something we ever truly get through, and get over. But we are learning to deal, and enjoying and soaking in all the happy moments that comes with it all.

I love writing. I don't know how much I care for bearing my sole "to the world" (ok my fam, friends, friends of friends, and prob a good chunk of people I've never met), but I'm learning to let that go. Not only do I like writing, but it's turned into a type of therapy for me. Dealing and living with such harsh realities at this age (even though my twenties are officially behind me), would never have been something I expected to come of my life. But I've learned, and accepted, with all my heart, that I would not have been given this beautiful little man if I could not handle everything that came with him. I know that there are no better parents for him than us, we are just constantly learning how to deal, support, teach, and show and give Riley the best that life has. I would probably write more often if not only I felt like I had the time and energy, but could get through one post without some sort of tears.

But since it's now been a few months, and a lot has happened in that time frame, I know updates are always nice. I know that a lot of people are hesitant to ask us how Riley is doing, how we are doing, and what all is going on currently. Yes sometimes it's nice to not be bombarded with those questions, and just be. But other times we can see you holding back. Can always just start with, "do you mind if I ask...". Not only does it keep things real for us, everyone else, but it's something that we've excepted is not going away. We appreciate and love all the support and love for us and our boy. I've certainly learned to be honest through all these experiences. If I'm not in the mood to talk about it, I won't hesitate to tell you and not beat around the bush.

(Mickey came to visit Riley at Children's on his birthday!!) 

So the last I wrote was about learning to accept that Riley has some sort of progressive neurodegenerative disease, and his life will be short lived, and that we needed to start soaking in the moments and accepting that someday we will have to say goodbye. Which is all still true, but when Riley was in the hospital for his two week run in June last, and was intubated, we made the doctors do anther MRI, so we could have all the information as possible if we were to face another horrible extubation, and needed to make decisions A LOT sooner than we anticipated. Gist is, last August to April MRIs, showed significant progression and cerebral atrophy. But when we got June's done, we found out that August was on the highest tech machine, and April was on the step below that, so comparing isn't easy. June was done on the highest machine again, so looking at all three images, the progression isn't as bad off as we had thought in April. But unfortunately that doesn't change the fact that the progression and degeneration will continue, his disease won't stop. It's just more questions as to how quickly. And now that image is almost two months old! We and doctors have agreed that doing any future MRIs randomly isn't worth the anesthesia and intubation risk. Now if and when...more on the when, he's intubated again from being sick, and a chunk of time is pasted, there is no risk, might as well see IF we can gain any more information on how the degeneration is progressing...and ALAWYS do it on the T3 machine (highest quality technology)!

What we anticipate and kind of prepare ourselves for the worst is that another pneumonia will the be end, and we will have to make the tough quality of life calls. It's not the particular disease itself that will be the sole reason we loose him one day. It's like Alzheimer's, Parkinson's, cancer, etc., the likelihood of the respiratory system failing first is the most likely. So whether that's this flu season, next, or five years from now. Each ICU admission will be filled with anxiety and expecting the worst. That way when he kicks ass like he did in May and June discharges, we will be thrilled to hug him and take him home again once more. But we are also trying to not live our daily lives in this mindset. We are focusing on his smiles, doing fun things with him, giving him different experiences (like his first movie tonight!), and spending time with family and friends. My cousins and aunts and uncles just left days ago from a week long vacation at our and my parents house. We haven't all been together since our wedding, five years ago. And these are the crazy/loving people I was spoiled to get to see at least once a year when we were kids. To have them all be able to make it out, relax and avoid reality together was just what the doctor ordered. Some of them even got to meet Riley for the first time finally. I was so focused on them coming and doing things together, I didn't even think about how it would be when they left. Obviously back to the grind and reality, which is fine, just hit harder than expected. It's a difficult concept to swallow that some of them may have just said their goodbyes to the youngest of the group. But I hope and pray everyday that, that won't be the case.

(Gotta love them😘)

Coming down into reality has been filled A LOT. Riley now is on Providences Stepping Stones Palliative Care service with his own nurse, social worker, etc. They're going to be there to help do what the can to keep Riley home and thriving, and me sane. Also, back to making doctor appointments (some new specialists-endocrinology and nephrology, per neuro's request), am planning other upcoming vacations, and doing random things here and there to do for our monkey's enjoyment. Like tonight we are taking him to see "The Secret Life of Pets". Told him he gets to be a big boy and watch talking cartoon Sadie dogs on the big TV, and I've gotten lots of curious looks from him. Now being his first movie we will definitely have essentials to help his sensory experiences if it's a bit too much (i.e. His earmuffs, sunglasses, blanket, stuffed buddy, nookie, etc). And if the test run goes well tonight, he will be even more stoked to go see Dory soon! We also have a zoo trip in our near future, farmers markets, his first Mariners game, chris' company picnic, a wedding, and the beach if we can swing it. Summer isn't over yet and we plan on utilizing every minute (without over stimulating him and exhausting us!)!

Learning to say goodbye

Staring at a blank page while the cursor blinks. I don’t know if I can actually write these words. I do that, it makes everything more of a reality. But I need to start to accept and deal with that reality somehow. Writing, is one way that helps me. Here it goes……………………….my child, (eyes squeezed shut)…..is dying.

I’m in no way saying this is happening NOW, but slowly it will happen, and much sooner than either of us could have imagined. We still do not have the real name for “Riley disease”, but we have had a very tough conversation with both his neurologist and pulmonologist. 100% certainty, Riley has a progressive neuro degenerative disease of his brain, that will ultimately take his life. Obviously rare enough that no one, literally in the world, can tell us the name for what is going on, or how things could play out exactly. But with his several MRIs and their changes, and his clinical history, we have a decent idea. He has some sort of white &/or gray matter disease in his brain, that is chipping away at his brain cells and degrading who he is and how he can do things.

Compare it to other very well-known progressive diseases like MS or Parkinson’s. You have a pretty good idea with those about what will happen to that person, and maybe an idea of how long they have left. We may not know as well as that, but information that we do have gives us a decent idea again. Riley will not make it another 10years. Progression in his images and clinically, we could be looking at months to just a few years at most. I’m going to lose my child. Writing it baffles me, how am I supposed to wrap my head around this. I’ve always had this feeling in my gut and have had more morbid thoughts than I’d like to admit. But to now make that feeling and thoughts a reality. WTF. I would be swearing up a storm right now and bawling, but I’m just numb.

The degrading cells in his brain over time, will start to take away things that make Riley, Riley. His interactions, smiles, goofiness could slowly start slipping away. His functions of other organ systems or movement could start failing. Mainly, what we expect to probably see first just from a clinical history, will be that his breathing system continues to go downhill until it hits rock bottom. The next respiratory infection, could go just as badly as this one did. He may not make it. We could be facing those hard and firm quality of life decisions the next hospital trip. Or the next time he gets sick, it just lowers his baseline even more than this trip has done, and makes the next infection after what does him in. We just don’t know a hard specific as to when, but know clinically and in our guts it will happen in the near future.

Knowing that he will at some point lose everything that makes him, him; knowing that he’s more than likely not going to enjoy having a trach and permanent life support at home to give him even a few more months or year, as other things degrade…do we hang on to him by a few strings just to have him? Does that make sense for him? And that’s assuming he’d even have enough time to get through surgery and the months or year it takes to get him home after! What makes sense? What is the most worthwhile choice? What can we do to make the rest of his life happy, joyful, and comfortable? Do we say goodbye when he still is aware and smiles at us, but his breathing system has failed beyond repair, or something else is pulling him away? Or do we keep him hooked to machines to watch that happiness fade in front of us? Do we even choose to bring him in to the hospital when we know that it would only be to put him on life support and never come off? Nobody should ever have to deal with these questions. Just all bullshit.

This may very well be the last time, that we get to bring him home from the hospital (and I still hate that we’ve done that more than just the one time that you’re supposed to). But we ARE bringing him home this time. And just over a week ago, that was a very big question mark. For him to be able to turn so quickly, this time in a hugely positive way, is such a blessing. It allows us to be able to pick him up and give him a hug; which I got to do for the first time today! It will allow us more time for snuggles and kisses, more time to smile and laugh and make wonderful memories. We are given some time to help him experience awesome things in his life that a child should get to do or see! Whether we get days, weeks, months, hopefully a few years (realistically don’t hold much hope on that one) …we have some more time together as a family. To live life as best we can, make his life the best we can, for as long as we can. Right now that’s all I can really ask for. Let the hard shit sink in, rack those insanely stupid questions over in our heads, while we continue to enjoy the smiles and the laughter. Finding that balance is not easy by any means, but it almost comes naturally when you’re around him. I can’t not smile with him near me, or tickle him to get giggles, or ask for a kiss and he’ll oblige. I just wish that those things would never stop. How do you ever say goodbye to your child?

"Riley Disease" - SCH PICU day #40

Leaving for the hospital almost six weeks ago now, realistically I would not have believed you if you told me that we’d be here this long, with still a good chunk of time to go. But from a mother’s gut instinct, I knew it wasn’t going to be good. I’ve been terrified and have had this gut feeling for a long time, after seeing so many respiratory failures and arrests, being bagged and coded many times, that one day it would get the better of him. No matter how stubborn and strong he proves he is, whatever disease this adorable little boy has, isn’t something like cancer where he can try and fight it. He and we have no control over what his brain is going to do to his body, and when. As a parent, it terrifying and heartbreaking that you can’t help you kid, be able to just slap a band aid on it and make it all better. 

We’ve been a little reserved lately and withholding information from a lot of people, besides our close family and friends. Things got caught up in a big tail spin and weren’t ready or had the energy to update and share the life threatening situation that Riley was in. He’s nowhere near 100% out of the woods yet, things can change on a dime with this kid, so still holding our breath. But things are certainly looking much better than they did a week ago. 

So we’ve had two care conferences within the last week and a half in preparation to get Riley ready for extubation, and kind of start to address all the “what ifs”, to have plans set in place and not be making decisions in the moment. We first met with his care team last Tuesday to discuss specifics on his second extubation trial attempt, what bipap mask to use, settings, what to do about his comfort level, etc. We extubated the next morning, expecting we’d get him back on bipap like the last time, and if he had issues he’d probably show us throughout the day, like the last time. Nope. I don’t know if it was THE most terrifying moment for me, as I’ve sadly had a lot of them with Riley, but it’s certainly up there. Tube came out, and he tanked. And tanked fast, faster than even the doctors expected. Now thankfully, they’re always prepared, so they were able to knock him out really fast and re-intubate him within a matter of minutes. But I certainly have his terrified look of “Mommy help me, I’m scared, I CANNOT breathe”, burned into my brain. 

Trying my hardest to not cry as I type all this, so I can at least see what I’m typing! Like I said, not even the doctors expected him to go downhill so fast. From the very unexpected outcome, things went pretty quickly in regards to trying to understand what he was and was not doing, and getting that tube back in him. From what the doctors gathered and explained to me, is that his entire upper airway (throat muscles) collapsed and not even the pressure of the bipap mask could get through them. On top of that, they had a lot of differing opionions on his drive to breath with his weaker diaphragm and lungs. X-ray afterwards to check the replacement of the breathing tube showed that just in that matter of minutes, his upper right lung had already collapsed. Thankfully being back on the vent, he recouped rather fast and was back to his original low pre-extubation settings, within a day. I waited for things to calm a bit after all this happened before making the hardest call to Chris that I’ve ever done. Thankfully his boss and company has been so overly understanding, compassionate and accommodating; there wasn’t a question when he updated them and they up and took over his route. And he’s been out since, and they’ve been dealing. Guys, can’t thank you enough for that. 

As you can imagine, after that horrible and unexpected experience, since then we’ve had a lot of life and death questions, scenarios and things that we’ve started discussing even more than just a couple weeks ago. As shit seemed to get REAL, REAL FAST. The thought and clinical evaluation of him this time last week, was straight up basically his breathing system is starting to fail him. Whether it was strictly his upper airway muscles, or his lower breathing muscles, or all of the above. The fear was that extubating him again we’d either end up with the exact same scenario or possibly loose him in the process (small chance, but a chance). Our other two avenues at that point where to move forward with a trach, to permanently fix the upper airway problem, and then probably be going home permanently attached to a ventilator. Essentially keeping him on life support to get him home, for however long. And the other more dark road for us being to look at what his quality of life at home being permanently hooked to life support would be like. Is that something he will tolerate? Will he still be able to enjoy the same things and in the same way? Will he seem even more bored than the attention I feel like already can't constantly give him? Will he start to have other things fail beyond this soon that will keep him uncomfy or create more pain? Asking yourself these questions and racking your brain for answers sucks and is not easy. Finding a way to answer them somehow to decide if now is the time to accept that something life sustaining is something it's time to give in to? Staring at these petrifying roads and decisions to make was just so shell shocking and completely numbed us. There have been a lot of tears in the last week. Not having that specific diagnosis, or even an idea of his disease/disorder being progressive, stable, etc., makes those kinds of decisions is near impossible. I HATE how much we’ve had to talk about the possibility of losing our precious child. 

Ultimately, we did decide, after another care conference this Tuesday, to try extubation one more time. We knew there was a risk involved in losing him, as the docs had told us that re-intubating him the last time was much harder than the times before. It was a small risk, but decided we needed to take it. We wanted to try again, with the expectation that everything would go the exact same. But this time, we’d all be ready for it and we’d have certain people in place like his pulmonologist and head ICU doc (that I chose) watching and interpreting more precisely what is and isn’t happening. That way we’d have more precise answers, eliminate as much doubt as possible, to allow us to even attempt to make an educated decision on his care; not that we thought either road we were facing at the time was the right one. And if he actually fell into that small risk we took of losing him in that moment, decided that was our answer right there, that God chose that this was really his specific time, and it’s just not going to be in our control. 

(Oh yeah and this guy stopped by to visit, the day before his failed attempt)

Neither of us are religious, even though we’re both baptized Catholics. I don’t refer to God much, but I do pray from time to time; especially for my grandparents, my Uncle Den and Jerry to watch over my little boy if he ever does have to leave us. So I feel comfortable enough to say, BY THE GRACE OF GOD, he did the exact opposite as we all expected during this extubation. He KICKED ASS. He said “screw you guys, I got this, I’m stronger than you think”. He didn’t obstruct in his upper airway, he tried to get those big breaths, even though having tape peeled off your face and a tube pulled out of your throat does not by any means feel good, so he wasn’t a happy camper, but he fought with everything he had. I don’t think I’ve had happy tears in a while. He has successfully been on bipap for (by the time I get this published) about 33 hours, with no signs of tuckering out. Heart rates have remained normal and comfortable, labs look great, x-rays look the same, sounding well, etc. He’s not thrilled to have a mask over his nose and look like a Heffalump (Winnie the Pooh reference), but he’s tolerating anyway. He’s moving his arms and legs a lot more, more like his normal self. He’s alert and aware appropriately, have even started going down on his sedative. And he’s slowly starting to find his voice again. I’m sure his throat is very sore, but he’s not complaining about it, and is starting to get very quiet sounds out. Almost six weeks without hearing his voice, I’ll take even a little whine right now!!

We do have a small update in regards to his overall condition. It’s nothing that is utterly helpful in the day to day situation at the moment, but something for us to keep in mind and try and wrap our heads around it, and learn how to deal with and accept. Something new to make us numb now for a while. Vlcek is back from his conference in Amsterdam where he was actually able to sit down with the top dog over there, on white matter diseases. He was able to talk with her about Riley, go over his MRIs with her and get her thoughts and opinions. Well, even the top dog can’t say, “he has this”. Which means, whatever his disease, it’s THAT RARE. SOB right? Should we really be surprised? Of course that’s the case. Looking at the changes in his MRIs over the past (almost) two years, she is confident that he does have a progressive disease. She can’t say for certain that it’s a specific white matter or gray matter disease; too hard to tell in his MRIs as of now regarding one or the other, just that it’s progressing. Of course not having a clinical gene mutation/deletion/change come back in his whole exome sequencing doesn’t help either. So now our geneticist does have the raw data and is starting to go through it all looking for red flags, specifically anything related to the brain. She came in this morning, and got our permission to send off the data to another doc she knows in DC, that specializes in leukodystrophies and rare cases. So hopefully with reaching out for help from other docs, and our own, we might find some sort of information regarding another child that has the same thing going on. Then that could lead to a specific diagnosis, and prognosis, and becomes a clinical thing, rather being in the research level. But all that takes TIME. And now knowing “Riley disease” is progressive, we don’t know what kind of time we have. For all we know it’s 30 years (God hoping), or a few more, or another six months. 

It's hard to explain, but I’ve always had this terrifying gut feeling that it would specifically be his breathing system that would fail him one day, and that’s how we lose him. Now maybe that’s just because that’s been a big player in all his hospital trips, and I’ve seen a lot of bad happen first hand with it all. But he’s also had significant and life threatening seizures, but it’s always been just this gut feeling. We’re still holding our breath a bit on how well he seems to be doing at the moment. I know he’s an incredible stubborn and strong little boy, but I always worry about the control he continues to have or starts to loose with that. The hope and goal is now that we can slowly make changes down on his bipap settings, eventually give him little breaks, etc. And ideally, be able to bring him home at some point, with a clean bare cute face as normal, during the days. Then at night, he sleeps hooked up to the bipap to help his lungs and breathing system recharge from the day’s weakness. I will be jumping up and down if we can do that. Because compared to trach with home vent or the quality of life questions with that and his course, it’s beyond what we thought was possible. Once again, things turn on a dime with this kid, so we will be holding our breath for a while, but at least we’ve taken small steps down a much better road with a brighter future. 

Now with knowing that his course is progressive, knowing he won’t get tons better and tons stronger; knowing that the likelihood of him walking, being able to eat normally again, etc. is pretty low. Just means I’m going to become even more of that annoying mom to doctors, and guess what I don’t give a shit. I’m going to do everything in my power to keep my child alive and with us as long as possible. And in that mind set, keep reminding ourselves what that means for him, and make the best decisions FOR HIM. I don’t expect doctors to be able to hand us something on a silver platter with he has “this many of days”, or “this many of years” left. But as things happen for him, like this hospital trip, his baseline level will probably be chipped away at, and never be back up to where it has been. It’s been chipped downwards in his regression of movements and strength in his muscles and he got a new baseline. Then it got chipped downwards with seizures. Then further down with losing ability to eat normally. And further down with each respiratory infection and hospitalization. Now it’s being chipped even further down with this visit, to an even lower baseline, which means an even lower threshold of reserves to be able to help when things threaten him. So as we see the light at the end of the tunnel this time, just means that the next respiratory problem, could be a MUCH bigger problem than we’re use to or ready for; just like this one has been. 

Can’t even begin to explain how much I want to swear, yell, cry, etc. right now. I think the numbness will stick around for some time, but seeing my kid smile and knowing I might get him home in a way he’ll enjoy, gives me that hope I need.

(BiPap, a lot more of his face covered, which he's not happy about, but is thrilled to not have a tube down his throat!)

SCH PICU day #25

Some days I wonder how patient I really am. And I know who those of you are, that are laughing at that statement right now ;-P Some days it feels like these past weeks here in the hospital have flown by. But on a day to day basis, putting up with patience with doctors while they navigate how to best treat Riley, how best to wean down his settings on the ventilator, & having patience while treatment options are decided while we still don’t have an underlying diagnosis, for lack of a better word, sucks. As of today, we have tied his longest stretch in the hospital (Aug-Sept 2014 with his first pneumonia), and will easily pass that number come tomorrow, with many many more days added on after. Wouldn’t be shocked if we doubled that number….

I we finally have a “plan” on weaning him off the ventilator. With having a lot of back and forth on ideas, him having crappy days, we’re going to go slow and adjust one setting at a time, down by 1 step on one, one day, then the other the next. Hopefully he takes to it all well, and extubating goes more successfully this time, compared to last week’s epic fail. If/when we get him extubated successfully, the question will be what kind of extra support he may or may not continue to need while here and at home. The upper respiratory infection is officially gone, but now we have the problem of him just having very weak muscles, and that includes his lungs. And not knowing if his muscle weakness is gonna get better, gonna stay the same, or will be progressively degenerative, it hard. So planning immediate care for the upcoming future, and beyond has suddenly gotten even more difficult with this stay. 

Unfortunately, we didn’t learn anything overly new and helpful with our genetics meeting last Monday. Basically went over the clinical results in more detail. The biggest reason that CDGs are highly questionable with his double mutation of the ALG14 gene, is because Chris and I have two totally separate variants of the gene (mutations). And the literature that is out there on ALG14’s connection to CDGs, Riley just doesn’t fit that picture. I spoke with his doc today, and the lab is sending out the raw data this week, so she will be able to start going through it all next week. She is going to try and find any red flags that aren’t of clinical significance (because little to nothing is known about them), and can figure out anything more on a research level. It was a little disappointing to wait a month and a half after getting the results to find out there isn’t anything else useful, especially when we could use some sort of helpful information right now; but we knew that was a very real possibility.

We’ve had his MRI results since it was taken about two weeks ago, but decided to speak with Vlcek about it all prior to releasing more “unknown” information. He came and visited with us last Friday. It’s funny because when Riley was little, we always thought his bedside manner was just kind of weird, but with how much Riley has grown on him and he’s gotten comfortable with us, it’s funny to hear him ask me questions about how I am doing. So of course Riley’s MRI doesn’t tell us that he has this specific disease/disorder. But having it, and being able to compare it to previous MRIs has given us something. It’s blatantly obvious that Riley’s white matter situation has gotten much worse. Clinical reportings: 

·         Compared to prior study performed on August 27, 2015, progression of T2 hyperintense signal abnormality involving the white matter diffusely, most consistent with leukodystrophic process. No abnormal associated enhancement or restricted diffusion.    

·         Moderate-severe diffuse cerebral atrophy, stable to slightly progressed since August 27, 2015.     

Actually being able to see the pictures of his MRI scans you can really see the changes happening. These are not his scans, but I pulled pictures off the internet of what a normal brain should look like, and one with his level of cerebral atrophy now.

(normal MRI)

(Cerebral atrophy MRIs)

Since Riley isn’t even three years old yet, it’s too hard for Vlcek to be able to say with any certainty if his white matter is progressively getting worse, if it’s just made wrong somehow, etc. It’s for sure that he does have some sort of Leukodystrophy. Problem is, there are many diseases and disorders that falls into this category, and again, as of now, we can’t say “he has this”. So that gives us steps closer to answers, but when it comes to making care decisions right now, not helpful! 

(“Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.” -nih.gov)

There are so many roads that we could be facing right now, and not only are some of them terrifying, it’s also terrifying not knowing which one Riley will end up going down, and how to best help him. Chris and I have never felt like we’ve had to have some serious life and death talks about our son, and we certainly hope that to not need to keep continuing, but we both need to figure out how to deal with the “what if’s”. Talking about what to do with our son if he does have a progressive disease that takes his life, sooner or later. Talking about quality of life and things we would or would not put him through. Of course we both would do anything to keep our son alive, but we have to put him first and determine if something drastic happens, what that life looks like. We aren’t near that point right now, but still having him on a ventilator after his RSV and pneumonia has cleared, because his lungs are too weak, is a serious thing. What if we can’t get him off the vent? Do we move forward with a trach and he’s on a vent that way for the rest of his life? What if we do get him off the vent, but he still can’t function his lungs normally on his own and need constant BiPap stuck to his face? 

I don’t think the whole “not knowing” aspect of his life has ever been this difficult. I don’t think I’ve ever been more terrified that our son does have a progressive leukodystrophy that will one day make not only his external muscles too weak, but is internal muscles as well. We could already be starting down the rabbit hole of his lungs falling into that category, we just don’t know. What happens when his kidneys join in, or his heart? I can’t fathom a life without this sweet little boy. And I hate that it COULD be a reality. I in no way choose to believe it is, but somehow we need to accept and deal with the fact that it is a POSSIBILTY. Because if we don’t, I don’t know how we’d ever cope. 

Things are going pretty well for Riley right now. He’s headed in the right direction, slowly but surely. But we do know quickly things can turn in the wrong direction, so it’s the patience game and taking it one day at a time. We now have a dedicated comprehensive ICU doc that is handling his care and overall picture. He’ll still have a day to day ICU attending and residents scheduled, but she’ll be in more control of everything, which is comforting. No more changing plans every few days. And as we slowly get closer to extubation, we might have a sit-down with docs involved to go over all the “what if’s”, that way we can start to prepare better after seeing how he does weaning down. Taking these small one step a day in his weaning process will put us at, at least sometime into next week at the earliest for talks and possible extubation, and he won’t strong enough to be able to just get up and go home at that point. Which means, minimum of a few more weeks here, fingers crossed it’s no more than that. I have so many people asking “What can we do”, “What do you need”; I never know how to answer those questions. If you have brilliant ideas that you want to do, help, whatever with, by all means go for it. I’m not good at asking for help, but when things are offered, especially now, we will take it. Visitors, good food, some glimpse at normal life! It’s the small things you miss “living in your tiny house” HGTV joke ;-P  

(Poster I made for his door)

 

 

 

SCH PICU day #12

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

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

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

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

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

Finding balance in hard times

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

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

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

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

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

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

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

 

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

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

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

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

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