Still missing a few puzzle pieces to a diagnosis...

“Parents of children with a rare disease become doctors without diplomas to keep some “professionals” from killing their kid with ego and nonsense”.

May not be the most heart-warming quote, but made me chuckle. I don’t think we’ve run into a doctor that has treated Riley that has quite that much ego, but certainly more nonsense than I can count! I wish I could say I was curled up with a glass of wine and writing, two of my favorite things…but today Riley are in a 15x15 foot room while he gets his second round of his bone density infusion. Won’t know for sure how well it’s working (literally takes the calcium in his blood, and shoots it to his bones, where he needs it, due to his high risk of fractures), until about a year in, after another full body scan. But can’t hurt to try, he rocked the first infusion, to have this one be a (LONG) outpatient appointment at least! Almost wish it was inpatient…just to have a “comfier” chair…. almost. It’s planned, so I’ll take that and stop complaining.

Now since I haven’t written in MONTHS…like 6+ (oops?), I thought I’d keep this post more informational & refresh people’s minds as to Riley’s condition, and provide the latest updates. Which, thankfully lately there hasn’t been much, hence my absence. Not to mention Riley starting school and me going back to work has kept us pretty busy. So, take a comfy seat, as this may be a LONG post. And yes, I know I say that like every time.

I’m not writing about Riley’s condition today to gain any sympathy, to make people feel sorry for us, or for any sort of attention. I’m writing because it’s not something that is talked about often in its entirety, usually just regarding a specific “symptom”, or people asking how he’s doing, or just a small piece at a time. I think a lot of people don’t even know every single piece of his puzzle, have easily forgotten a lot, or are too afraid to ask. Never be afraid to talk and ask questions, we love talking about Riley, all the good and the bad. Yes, the bad can be emotional and exhausting, but we’ve at least learned when to speak up and tell you we either can’t or don’t want to discuss it any further for the time being. Aka, I’ll tell you to shut up when necessary. But, basically today is an education day, because I’m sick of so much of him being a taboo subject, which I know I can’t easily change, but I’m at least changing the taboo around him while I write.

Riley James Roberts was born a healthy baby boy in June 2013. He came after a VERY long and stressful labor, with the cord around his neck, and quickly taken rather than given to me. I still think that moment of hearing a nurse say the word “resuscitate”, is one of the worst moments in my life. Yes, I was fairly drugged, but I heard that clearly, and immediately flipped out. Thankfully he came around “quickly”, and things seemed relatively normal for the first few months. Then we noticed he just wasn’t meeting those typical milestones which lead to his first neurology visit, one of the other most scary moments in our life. His first diagnoses, of many, was hypotonia (weak/floppy muscles), at 6 months. Now, that could end up being not a huge deal and you can “grow out of it”, or it can be a debilitating symptom of a condition. For him, it’s the later. Riley has never sat on his own, had 100% head control, crawled, stood or walked, and never will. However, beyond the big obvious of this physical portion of his disease, he’s developed the following over the past four years, since that first visit:

1.       Developmental delay – his diagnosis that helped him start therapy through Early Intervention with Encompass, where I now work.

2.       Epilepsy – thankfully very well under control now, haven’t seen a known seizure for a year and a half, thank you ketogenic diet. And for those who think that’s a good diet for people to lose weight…really pisses me off. Not the purpose people! Look it up with Epilepsy. His was so bad at one point that he was having multiple minute long apneic seizures (where he’d stop breathing), multiple times a week, then got in a cycle of every few minutes, had to be intubated and then started the diet which worked wonders, allowing us to take away 2 out 4 of his meds!

3.       (Extreme) Hypotonia – he basically has minimal muscle control and strength, leaving him in a wheelchair, or some other chair at home, laying on the couch or bed, and someone carrying him when needed. And he’s a BIG 4 ½ year old now…roughly 3ft 6in & 45lbs!

4.       Osteoporosis – his bones are like that of a 90-year-old man, I could be a twitch dramatic on that, but he’s a very high fracture risk. He’s broken each of his femurs twice (once individually and once together), the strongest bone in his body. Some weird movement could snap something, and we always fear it’ll be something like a rib and have it do internal damage. Why we are trying the Pamidronate (bone density medication), with the hopes it helps at least a little, if anytime, giving us a bit more piece of mind.

5.       Dysphagia – Riley lost the ability to swallow shortly after his first birthday. And it happened quickly, like in the span of a week or two. He went from being able to at oatmeal, smashed bananas, baby foods, etc., to aspirating it and having an NG tube put in. Which led to not being able to control his own secretions either, then an ND tube, and finally surgery for his gtube in his stomach, and that’s how he’s been getting food (formula and meds), ever since. He’s continued to struggle with secretion control, which becomes more of a problem when he’s sick, and we always have to watch his positioning so he doesn’t choke. Those episodes can be pretty scary and have had me almost calling 911 many times.

6.       Ataxia – he’s never had good voluntary control and coordination of his muscles, probably since birth, or around the time he was diagnosed with hypotonia as a baby. He’s a great kicker now (was when I was pregnant too!), can move his arms around, and grasp things, but never been “normal” by any means.

7.       Cerebral Atrophy – Riley has had several MRIs, the first one at 6 months, which was normal. Since then there have been things showing up, slowly over time, his brain tissue slowly loosing neurons and their connections. Thankfully this has been relatively stable recently, but it definitely means he has a progressive disease of some sort.

8.       Demyelination/Dysmyelination – his MRIs show either decreasing White Matter in his brain, or that there is something wrong with the function of the white matter he does have. As of right now it’s too hard to tell which one, without more time, and more progression but, helped lead to the diagnoses of a neurodegenerative disease.

9.       Chronic Kidney Stones – Thankfully they’ve stayed small over the years, don’t move around too often (which can cause pain), and he’s even passed a few on his own. But it’s just one more thing we have to manage and keep an eye on, to hopefully avoid any surgeries. Unfortunately, it’s a common side effect of the ketogenic diet, but the whole not seizing thing, outweighs occasional stones!

10.   Chronic respiratory failure – the word failure makes people think true failure, like dead or something. Doctor lingo…not quite. Just means really sick and bad off respiratory wise. Basically, anytime he’s sick in the hospital, he’s in respiratory failure, he doesn’t need to be intubated to be at that status, but does require extra respiratory support and therapy, like wearing his BiPAP more, and more cough assist.

11.   Chronic lung disease – think of what colds feel like for you and me, take that same cold and give it to Riley. It’s gonna be much much worse. He doesn’t have the muscle strength (which includes his organs), to fight through colds like a “normal” person. Which is why a lot of the time he’s in the hospital on extra support. He’s had pneumonia more times than I can count, and we almost lost him to it (thanks RSV) in May 2016. We pushed for a third try taking him of the ventilator (which was definitely life support for him at the time), thankfully he’s stubborn and stronger than doctors think, and proved them wrong.

12.   Central & Obstructive Sleep Apnea – We’ve have an oximeter (oxygen and heart rate sensor) since he was only a year old, so at night we know if he’s in trouble. Or now, just trying to get attention, because he knows how to kick to set off the alarm when he wants something! But that monitor has helped us know when he’s having trouble with his sleep apnea, among other things. He first started just sleeping with a bit of oxygen through a cannula at night, to help keep the O2 needed for his body, when he had an episode, then those episodes started getting more drastic, and got big enough for the need for a BiPAP. Which is definitely easier packing verses a heavy oxygen concentrator, but a mask for his face, vs cannula. However, it’s helped him sleep great (a lot of the time you look at the monitor, it’s breathing for him, which is scary to think about if he wasn’t wearing it), and now he has more energy during the day after a good night’s rest!

13.   Urinary Retention – a few years ago, he started holding his pee, and getting such a big and bloated bladder, we’d have to bring him into the ER on multiple occasions to get a catheter, to help. Got to be enough times, that his doctor taught me how to do it, so we could save ourselves the time and money in the ER. Thankfully, he doesn’t need it often, but maybe once a month there is a time that his body just won’t let go.

14.   Congenital Fiber Type Disproportion:

https://rarediseases.org/rare-diseases/congenital-fiber-type-disproportion/

15.   Congenital Disorder or Glycosylation (defect due to double mutation in ALG14 gene):

https://rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/

Wow, right? Like I said, not looking for people to feel sorry for us, I just want to educate and make everyone feel even more comfortable around him and us, knowing more and feeling OK asking or talking about something with us, if you’d like. And it’s taken us awhile to feel comfortable doing so, as well. I update as things come up, but don’t think I’ve ever really summarized the puzzle that Riley is. He’s the kid that make doctors go, “huh….” Or “Hm….”. He’s the kid that does the exact opposite doctors expect of him. He’s the kid that is not anywhere near the “normal” or “typical” when it comes to anything. Any time he’s in the hospital, it’s always explained multiple times that he’s not going to react or do what others do. He’s special, and we love him even more for it.

We don’t have a 100% specific diagnosis still, but we know it’s progressive, whether fast sometimes (like when he’s sick) or slow others (like now when he’s stable), and neuromuscular and neurodegenerative. What that means for his life, we still live in that unknown. But we MAY be closer to knowing the root cause. He has a double mutation of his ALG14 gene, one from me and another from Chris, which we’ve known for a while now, but have chosen to not disclose until we knew more. Due to little being known about this gene and almost no literature on it, things are still unknown. He’s part of a study in California that is looking into this specific gene and how it works, the thought is that it may cause how the ALG13 gene functions, which has known literature and is connected to Congenital Disorders of Glycosylation (CDG syndrome). But there was actually a publication that came out in July regarding AGL14 in some infants, and between that, other research, and waiting to hear from the lab in Cali…our geneticist is fairly confident, his ALG14 is the culprit of everything he’s gone and is going through.

The hypothesis at the moment is that he has a milder form, of what the infants had in this study, as they all had similar symptoms to Riley, but lost their lives before or around their first birthday. Now, how mild is mild? We will probably never know. But maybe in the next five or ten years, there will be so much known about what Riley has, that it will have a specific name and age expectancy, who knows. We are going to be continuing to live in the unknown for some time, if not the whole time we’re blessed to have Riley, and we’ve learned to accept that. We make decisions based on our gut, our hearts and by the advice (keyword) of his doctors. It’s nice to have a sliver of knowledge of a possible path that led Riley to his condition, and a sort of idea, about what that means for Riley having a sibling…but that’s a story for another day! ;-P

“To laugh at yourself is to love yourself.”

Hope. Faith. Love. Family. Light & Laughter. Care about rare. Only disability in life, is a bad attitude. It’s not our disabilities, it’s our abilities that count.

Hunkered down at a local winery in an oversized comfy chair, listening to mellow acoustic music, while sipping on my well-deserved and refreshing Chardonnay, is one of several ways that I find inspiration to write, and more so with my heart, than feeling the necessity to. And clicking a quick save-as, seeing my last blog was almost five months ago…obviously, inspiration has been lacking and slow moving…but it correlates with winter and early spring right…??

I’ll give the obvious and necessary updates that have been going on in our lives throughout this post, but I’m going to attempt this time to dig a little deeper, focus on Riley as this amazing little boy, and not just his struggles. Focus on us as a family, and my own journey and self-discoveries. I always have a bit of a rough start to writing, trying to figure out what I want to say, how I want to say it, trying to not forget things, etc. So, I looked up some inspirational quotes, as you see a few I started out with. But I stumbled upon a few from Disney movies, and a lot are from some of Riley’s favorite. So, I immediately decided that somehow, I want to incorporate some of these throughout my writing tonight. They all fit his and our lives, and are not out of random Frozen, or Tangled or even older movies he has yet to see like Dumbo. The movies mean something, as do the quotes. I’m going to attempt to be a little bit slyer moving forward, but here is one to start.

“You are braver than you believe, and stronger than you seem, and smarter than you think.” Guess who…. said our favorite Winnie the Pooh.

If you told me four years ago when I was pregnant, or even five years ago before the knowledge of having kids sooner than planned occurred; that our lives would totally and completely turn upside down, I wouldn’t have believed you. Not only with the sweetest child on earth, but who had lots of baggage (try many many suitcases worth) of health problems that we still wouldn’t have solved by his fourth birthday, I would have said you were crazy and never would have believed I could handle the difficulties that came with. But what’s funny, and many parents say this, it’s really hard to remember life before your kid(s). For instance, my night out tonight, me trying to figure out “Oh my gosh, what do I do?!”, I went for a nice scenic walk and am now writing, and drinking wine. Party!! Ha. A lot of parenting is learning as you go, and even more so when it comes to having a special needs child with complicated medical issues. So as you learn that way, you also learn how to deal with realities, grow from these experiences and learn how to live a new “normal” life, together. “If you live to be 100, I want to live to 100 minus a day, so I never have to live a minute without you.” Once again, wise Winnie the Pooh.

We’ve had three and a half years of so many unknowns, and now less than three weeks from his fourth birthday we still don’t have, definitive, answers. We do have some, but their broad. He has a neurodegenerative disease, but does that mean he will degenerate in a matter of months? Few years? Many years? God only knows, because he sure has kicked doctor’s theories to the curb! Just over a year ago, most didn’t think he’d make it home from the hospital, now it’s a year later and he’s not much worse for the wear, and thriving in other ways. He does have an upcoming EEG at the end of the month, and he hasn’t had one in a really long time, so now off of one of four seizure medication, we will get a true sense of what’s going on there. We also have a MRI next month to see how things have declined, or stayed the same in the last year. And a genetics appointment to discuss further the abnormalities that he does have on his ALG14 gene, but further testing has come back fine. He’s in a few research studies, and will be doing a skin biopsy probably next week to send off to have furthermore and new detailed studies done on the specific variants of that gene. And with how quickly growing an industry that genetics is, maybe someday we will know what it really means! “The things that make me different are the things that make me, ME.” Said by adorable little Piglet.

Oh, and another thing that will be discussed at his genetics appointment in a few weeks, details on further children. GASP! Hands down that’s what half of you just did….!! “Reach for the sky!!” Woody from Toy Story seems to have the best words on that one. Yes, we’ve always wanted another child. Beyond two, has never been a huge excitement for either one of us. But from Riley having “something” going on from as young as five months old, it got put on the back burner. Now, I’m in absolutely no way ready to be pregnant, any time “super” soon. I’m going through my own self journey, enjoying time with my family, stepping into a lot of changes in our house with summer, DDA services, preschool this fall, hopefully me returning to at least part time work, etc. Not exactly hot timing, nor are we confident at this point. But having the genetics appointment prompts the conversation. What could be the possibilities of our next child getting mutations on this same gene, and what could that mean. What testing can be done while pregnant, knowing Riley’s current situation, etc. Neither of us wanted our children to be as far apart in age, as they are going to be at this point. So mathematically…not wanting a second child to be due during Riley’s peck sick season (seems to be early/mid spring!), DEPENDING, maybe a bun in the oven sometime next summer? And this is me TOTALLY and COMPELETY thinking out loud. “Put your faith in what you most believe in.” Tarzan once said, and I believe that we were meant to be Riley’s parents, for as long as he’ll have us, and he was meant to SOMEDAY have a sibling, beyond crazy furry Sadie. So now that he’s almost FOUR (someone please tell me how that happened…), it’s at least on the table. And that’s where it stays until we say otherwise…

K, so not exactly a Riley Disney movie quote, but it fits for me, especially right now just having seen the fifth movie: “The problem is not the problem. The problem is your attitude about the problem.” Said that wonderful and crazy Jack Sparrow from Pirates of the Caribbean. I always knew there was some sort of line that would overall sum up ways I’ve been feeling, and emotions I’ve been dealing with, ever since at least last spring when things looked, at the time, so downhill for Riley. I’ve been on and off my antidepressant since about Riley’s first birthday, around the time his Infantile Spasms (his first form of seizures) started, and treatment was kicking in. It’s really ridden with the course of his health being stable, is when I haven’t felt the need for them. But with gloomy winters, and a horrible last spring, I’ve been on it consistently since January 2016. Seeing and experiencing this spring with two more hospital trips again, but this time both so much shorter and without a breathing tube both times, coming home to stability, I put my foot down, for and to myself. Time to get my shit together.

Riley has always been priority number one. And I’ve always known and sort of done enough self-care to get myself by. When things are more dyer, more focus goes towards him. When things are more “stable”, that slack gets let out some and I do what I can to keep myself basically sane. I love my son, and my husband with all my heart and will always do anything and everything for them. But some light bulb went off in my head this spring. Maybe it was the amount of stress weight I realized I’ve put on over the years, maybe it’s just not wanting to feel like I need medication to treat my depression, I don’t know. Probably all the above. But I have and am doing something about it. If you are friends with me on Facebook, you’ve probably seen that during the month of May, I’m making more of a consideration for myself and my own health and happiness. That means not only physically but emotionally and mentally as well. Physically I always set goals way too high, but between where I’ve even come with that in a month, and changes mentally and emotionally, never would I have thought by June 2^nd, I’d feel so much more like MYSELF. And an OMG here, I can’t begin to tell you how amazing that feels.

I feel like I’m the captain of my own ship again, taking controls into my own hands, as much as humanly possible. Is it weird that it makes me want to go out and re-pierce my nose like I had prior to Riley, and get another tattoo (which I do know what I want and have had for a long time)? Not in a way to “recapture” my “youth”, but in a way of finding who I was before, and being EXCITED about it. I don’t know when I was EXCITED to be myself last. To really take in that deep breath and smile. And I can happily say I’ve learned how to manage these discoveries and re-discoveries, and go about our “normal” daily life, without treating my depression, with medication, for almost four weeks now (don’t worry doctor approved). Didn’t want to make that public knowledge until I really felt good about it. I’m learning to manage the sorrows, down times and depression I do have, and yes mostly is Riley health related, by finding small times for myself, connecting with my friends and social media peers, writing like I am right now, taking baths, doing challenging workouts, and anything knew (within my comfort zone, which has expanded…). “Hakuna matata! It means no worries for the rest of your days”, funny little Timon and silly Pumba would say from the awesome Lion King.

I don’t believe I will never have any worries the rest of my days, but I’m doing what I can to take the weird ass cards of life we were dealt, enjoy them together and figure them out together. Riley is WORTH it. My marriage to the most wonderful man is WORTH it. I am WORTH it. “Just keep swimming…” (oh common, you know who sings that one….), some days does feel like a mundane type of swim through life to keep things rolling, good or bad. But the good times you experience together, like going to the zoo the other weekend, with Nana of course, and having Dave the giraffe meet us up close and immediately smell Riley’s feet, to him learning to grab and swat your phone away when he wants all attention on him, to the absolute heartwarming smile and giggles that come daily now, with a bit of Riley toddler attitude (ok, probably more than a bit now), thrown in. Summer is looking good…. really good….

“To laugh at yourself is to love yourself.” – Mickey Mouse…. such a wise mouse, no wonder Riley loves him!     

Odd comforts & springing ahead

My new year’s resolution of writing more is totally working out well, ha. Ok, so I may not be blogging as much as I had wanted to try and do, mainly due to the time and effort, but I am writing more. I bought myself a journal for the first time in years, where I feel even freer to say what I want, and I have been using that on a (more) regular basis. But today Gram is hanging out with the boy and I set aside enough time after my errands to sit at a local coffee joint and tune the world out with my words. So here we go.

We managed to go in to our first PICU trip this year together, and came home together. After the difficulties, Riley endured last flu season with RSV & pneumonia, and another pneumonia with a broken leg, we’ve been just waiting on the edge of our seats for the next big trip and hoping it goes as well as possible, but also knowing the reality that there is the possibility that it won’t. But guess what. This ended up being the SHORTEST hospital trip for an illness (12 days total including admission and discharge), and he rocked it for the first time in a long time, WITH NO BREATHING TUBE! We’ve been so nervous knowing how bad this flu season has been, how many more have passed because of it, so God only knows how it was going to affect our little man. More than likely he got it from me, and in all honesty, I think he rocked it better and faster than I did for the most part! If his stubbornness came from showing Mama up this time, I’ll so take it!!

Hospital trips never go smooth though. There is always some other curve ball he likes to have doctors scratch their heads about, that doesn’t necessarily have anything to do with the reason he was admitted (Flu, strain B). It seems like last year we came home with a lower “normal” heart rate, and even more so this time. Looking back, he probably dropped roughly 10 beats/min at last discharge (beyond his normal not what he was admitted with). Now it feels like he’s dropped another 20 beats/min, beyond normal. So, his sleeping can be anywhere from 60-90s, and awake 75-120s. Yes, as a kid gets older, their heart rate starts to slow down (verses being 160s+ when you’re a baby), but it’s always co-insided with a hospital admission, and then discharge. And with how low, not quite pushing bradycardia (how many new medical terminology have you learned and looked up?). Of course, he started this just a few days before going home, in the middle of the night, with a combination of low blood pressure. His BP eventually stabilized, but his heart rate has stayed lower, it was “just going to be kept an eye on, while he’s here”. K, nothing drastic happened, but now we are still a bit on edge and aren’t going to ignore it. Makes me wonder why, and why these instances are tied to hospital trips, that tend to have higher stress on his body (that has a progressive neurodegenerative disease). Not to mention, much more instances of oxygen de-saturation. I just wonder, specifically the oxygen desats, how that’s starting to have an effect on his heart….

Plus, he’s always had on and off urinary retention issues, a little bit of a cluster f*** of it the weekend prior to being admitted, of course when I was out of town. So of course the first few days with feeds held he peed less, despite extra fluids, made him puffy instead, surprise! Always happens, you’d THINK docs wouldn’t be surprised by it with him…let alone most kids. He then got back on a normal schedule as he started to feel better, and then the last few days it’s like he was almost making less. His bladder wasn’t holding on to it, because he was never bloated, just less coming out. So, makes everyone scratch their head, but of course have with no real answer and it’s “just going to be kept an eye on, while he’s here”. Thanks, but what happens if it turns into something?

But we also can’t stick around the hospital on the ‘what if’s’. We’d literally be living there, with the unknowns in Riley’s future. And yeah no, not happening. It’s already really weird, that going back in there is…comfortable. And I HATE that it is…it shouldn’t be right? It should be unnerving, scary, weird, etc. And it is all those feelings, but comfortable has been added to the list. It’s the way that we are used to how those beds feel, we are used to hearing noises and alarms in the middle of the night, we are used to answering the same questions over and over. Hell, guaranteed we know 2/3 of the PICU staff, when it comes to the fellows, attending’s, nurses, RTs, UCs, etc. They all know us, and know WE RUN the show and do what WE say. They understand that we know our kid best, and that his journey is far from a normal one. Now, the residents. They’re learning, I get it. When we first had, Riley admitted this time last year, we didn’t really know how to deal with them, as some wouldn’t really know what to do, some would forget things, some would suggest the wrong thing, etc. But we learned to speak up very quickly, and go over their heads when we need to. It was actually a little hard for me to try and keep my mouth shut during rounds each morning while Riley was there. I wanted to correct so much. I’d usually be the one to talk and end the round, tell them my opinions and how we are going to do things, and ask questions if needed to the attending on (almost every single one of them KNOW Riley well). There were several mornings where they’d conclude the round with “Listen to Mom, we do what she says”. That’s right, now can I just be handed my credentials?!

We have definitely been blessed with a huge goofball the past few weeks, who is OBVIOUSLY feeling better. I don’t know if he’s even coughed since we left. Unquestionably, planned out his slow progress of getting over the flu the way he needed, and he cooperated. If some docs had, had it their way, we would have gone home a whole week prior than we did, and he proved a few days later he wasn’t ready with a scary call to us while we were out to dinner. First one I’ve ever answered, they’ve always called Chris first. Just keeping everyone on their toes, he’s such a stinker about that!

But the adorable, silly, giggly, goofy man that he’s been feeling like lately is just so fun to see and fills my heart. Tickling his belly and fart noises are currently the most hilarious thing in the world to him. I’m curious to see how his alertness continues to improve. Before we went in for our PICU trip, he had just over a week left on a taper of one of his seizure meds, Zonisamide, which he’s been on since August 2014. Yeah, over 2 ½ years. Now that he’s home and doing well, we’ve resumed the taper, and he will officially, and hopefully successfully, be OFF it, as of this Sunday. Most all seizure meds have a side effect of drowsiness, this one especially. So, as we’ve dropped the dosing down, slowly, he’s come to such life, with seizures still under control (THANK YOU Ketogenic diet!). He still has his “space-cadet” moments, sort of in a way I’d think a neurodegenerative disease to reflect in someone with Alzheimer’s, but not as often now. The lack of Zonisamide is lifting a huge fog, we have more of a toddler attitude and personality each day. He’s a little ham, who’s understanding more and more what you’re talking about, especially people and faces. He giggled this morning when I asked him where his Auntie Staci was, and smiled at a picture of her and his buddy Zeke.  Made my day.

The rest of this year (as it’s somehow almost APRIL), is filled with many new things, and changes. Mister man will be four years old in June, which means his DDA eligibility expires then, so I just dropped tons of paperwork in the mail to get the ball rolling with re-upping him, hopefully in the epilepsy category (as he doesn’t have a super specific diagnosis). Hopefully this will open some doors to him as far as Medicaid again, maybe respite care, waivers, etc. We will see. This process has not been easy. And soon we may start the process of planning the specifics on his start of preschool this fall. HOLY SHIT. We held him last year due to his rocky medical status, but if we don’t have HUGE hiccups between now and then, I don’t see why we couldn’t make it work for him. I think he’d enjoy the new experience.

We also have a genetics follow up in June, a few days before his bday. Now, I know there may not be much to discuss, as I have direct access to his doc (that’s right, I’m that mom that doesn’t NEED an appointment). But maybe by then we will. I know at this point we at least want to go over what it looks like, and what all we could do, as future children. I’ve also added Riley to the MyGene2 database through the UW, to help families connect, whether you have a diagnosis or not, and to get his story out there and available to others. Maybe someday, it’ll make a light bulb go off in some one’s head. But at the very least, they are going to re-run his whole exome sequencing on a research level, that may give us a lead, that the clinical sequencing did not. Plus, I just mailed off signed consent to Children’s Hospital of Philadelphia, to be a part of a new study through Dr. Vandever, whom Riley’s SCH Geneticist connected us with. It’s specifically for kids who have a possible undefined Leukodystrophy. It may not help him specifically, but we should try. And if anything, may help kids in the future, as genetics is so fast growing. If you’d like to know more about it, you can visit: https://www.clinicaltrials.gov/ct2/show/NCT03047369?term=Myelin+Disorders+Biorepository&state1=NA%3AUS%3APA&rank=1

For now, it’s getting back in to our day to day routines, and enjoying being home. We have a beautiful little girl who is going through a rough time at Children’s PICU, a lot of what Riley dealt with last spring, and our prayers are with them. So many people empathize with how we live our lives and what Riley goes through, but don’t understand it fully. I know this wonderful family does, and vice versa, and I can’t send enough more good thoughts their way. Please pray for them. Hopefully later this spring she and Riley will get a chance to interact and laugh together, sounds like a great thing to look forward to.

Memories & Resolutions

Long stretches without writing = Riley is doing well and we are trying to live in the moment. Most the time anyway, and it applies to now at least. Writing is an outlet for me though, and I really wish I just had more time to be able to do so. So many “new year’s resolutions”, and I’d like that to be one of them. Although holding hope to making, & let alone one happening, isn’t always likely. For instance, I have many more resolutions I’d love to uphold and make happen. One of them is to become healthier, in general, not only for myself, my family, but Riley in particular. This kid just keeps growing and growing, 42” last I measured! And sure, I’m strong from being able to carry him, but parts of me are also starting to hurt because of it. And yeah, some day that’s just going to keep happening, until I can no longer carry him…but today is not that day, nor is any day soon. So now I have to figure out how to shift my focus from my typical gym-rat routines, into making certain parts of my body stronger to compensate for specific things I’m doing and specific ways I should move. And eating better, taking care of myself, etc. all falls into that category of becoming healthier, mainly for Riley, so I can give him the very best that I can, in every way. And with him in mind, that one will happen. It gets top priority over any other more meaningless resolution.

(Watching the 'Finding Nemo' musical at Disney' Animal Kingdom, he was smiling the whole time)

BTW, how is it freaking 2017?!? How am I going to be 31 this year?! How is my child going to be 4?! Where has the last ten years gone? Chris and I will have been together (dating) 10 years as of May, this year, and married 6 of those years in July. Holy cow. 

(Leavenworth Oktoberfest 2008, over eight years ago!)

It’s hard to wrap my mind around how this year is going to play out, thinking back over last year. We had some of our biggest highs and biggest lows, EVER. It feels like every decision we are going to make, at least for the next few months, could impact Riley and his overall wellbeing. For instance, like taking a walk into town last Friday night to grab dinner at the brewery. It was so cold, and of course the wind decided to kick up as we left the house, Riley looked like the little brother from ‘A Christmas Story’. “I can’t put my arms down!!”, is all I could think once we finished getting ready to go. And thankfully, for many reasons, the brewery was fairly empty when we got there, so not only made it super easy to get a table that works well for us and Riley’s chair, it’s less possible sick strangers. That kind of thing, on top of the freezing cold getting to and from, is always going to be playing over and over in our head every time we bring Riley out of the house. But, we can’t, and won’t live in a bubble either. It’s making those decisions every day that is going to become more and more of part of our “norm”. And many parents go through this, but mostly, they don’t have the factor of life and death being a part of that decision. 

(Happy to be in from the cold, even if it is at the brewery!)

(And back in the cold...)

For instance, this cold/flu season is already becoming “epically” bad. I feel like it started really early, is getting ramped up hardcore now, and will probably last until almost summer time, the way it did last year. So, we get what, like 4 months out of the year of freedom? Gross. Of course, we purposely planned and pushed for Riley’s Make-A-Wish trip to be scheduled before the real start of this season. This is because we have no idea how he will fare, and we didn’t want to plan a trip for the following year, with the possibility of him either no longer being here or him being too sick to be able to make it. So, success, we somehow managed to grab a cancellation spot at the Give the Kids the World Village for the week Chris already had planned vacation (Halloween week), got our non-stop Alaska flights to and from Orlando, and multiple day park tickets to every Disney park, Universal Studios and SeaWorld. Everything planned so quickly by such amazing people, and guess what. I somehow caught a cold, from god knows where, roughly 10 days before we were due to leave. And just like most of us would, I felt crappy, but was “perfectly fine” in a matter of days. I even took EVERY precaution I could think of to NOT give it to Riley…. but being his primary care taker…. those precautions still failed.

(He thought it was hilarious that I was wearing his Mickey masks, and not him, to try and prevent getting him sick)

One week before our flight, he caught it and started getting extra junky. The biggest “blessings” from Riley’s many hospital trips, is the respiratory equipment we now have at home to be able to use daily, and use excessively when he gets sick, to try and help get him through. Between that, and now having access to our palliative care service, and we could call in a nurse, who got him an antibiotic prescribed from SCH pulmonary over the phone, allowed us to still be able to make our trip. Thankfully, this was a minor bug compared to what he can get, and have spiral out of control. We managed to get by for the first time in a long time at home. Every day that week, we were trying to get him better and better and debating if going on our trip was even going to happen, or was remotely safe for him. Last minute call, and any day sooner it may not have happened, but we made the call to go. It was a VERY rough flight for us getting there, due to probably many factors fighting against each other. It was super early, so he was tired and pissed because he was tired, which created more junk, on top of the junk he was getting over. Air pressure and his ears bugging him, made him more pissed, creating more junk, etc etc, SPIRAL. But that’s why we lug all that respiratory equipment with us, and look insane doing so, but it saved him and got him there OK, and once there…he bounced right back and took it all on with a smile! And some coughing, but less as the week went on.

(Loves his wheelies!!)

We were so blessed with this trip and the memories we made. We relaxed and let Riley lay around and nap each morning before heading out and taking on a park, or two, for the rest of the day, with a long time of sitting up for him. Having Nana there was so much better than either of us could have imagined. We would have still done the trip even if she couldn’t have come, I just don’t think either of us would have been able to relax or enjoy it nearly as much. The extra hands, extra Riley help, extra comfort & roommate for Riley, and to have her make those memories with him and us, was a big part of what made it all so special. We managed to get Riley on a few rides, Aladdin’s flying Magic carpet, the Jungle Cruise & the Adventures of Winnie the Pooh, all at Magic Kingdom. He met many of his favorite buddies, but he definitely was unsure of them going from 6 inches to 6 feet tall! I think the way his brain works trying to figure out his surroundings, when we got to do 4 characters in one go, allowing him time to catch on, and ending with Donald, one of his favorites, worked out so well. He went from totally unsure with Daisy, to a huge grin plastered on his face the whole time with Donald. Made my heart melt to see pure happiness in him like that. I truly don’t think he has smiles and has joy like that other when he sees me, or Chris, or his grandparents or someone he really loves and recognizes. 

We came out of this trip a little bit more relaxed in how we can handle his medical issues, and enjoyed not having it always be such a primary focus, beyond the day to day needs. Can’t get away from that. Plus, we got so much video, hundreds of great pictures, an amazing professional scrapbook, plus the two I made, and an extra duffle bag STUFFED full of (mostly) Riley acquired souvenirs! Such smart thinking Nana! Once home, it was kind of an immediate jump into planning and enjoying the holiday season. It was nice to be able to spend both Thanksgiving with both sides (minus Uncle Brad unfortunately), and having Christmas in Vancouver with everyone on both sides. I know Riley certainly enjoyed all the attention! And I must admit, it was nice for this mom to relax a bit and could walk away and let someone else watch and entertain the boy, or give him his feed, change him, etc.! I tried to not think about it the whole time for either holiday, but it definitely hit me on a few occasions that these times and memories, could be the last holiday season we have with Riley, and that he gets to enjoy. In no means do we EXPECT for him to not be able to celebrate them again at the end of this year with all of us, but we are practical in recognizing that there is a chance, and so we needed to make 2016 count. And I think we did as best we could, enjoyed the time, and gave him all the joy and cheer he deserves.

(Doggies protecting the boy)

Ten days into (somehow) 2017 now. I think new year’s resolutions are good for many reasons. Yes, to make and enjoy your life better is definitely one of them. But this is also a gloomy and somewhat depressing time of year with all the hustle and bustle and fun times now settled, with no major event (unless you have some awesome vacation planned in the next few months, lucky ducks), until virtually Memorial Day, signaling the start of the summer season, with more things, in theory, to look forward to. I believe that’s where a new year’s resolution could come in play, to help pass the time and change things up. And I’m sure I’m not the only one who believes that. Yes, it gives you something to do, something to focus on and distract you from the rest of “normal life”. But I also believe it can provide hope. For instance, I want to become healthier for my child, to be able to focus on and move him easier. This in turn almost forces some hope upon me that he will be around for a while, for these changes I’m going to make to be worthwhile. And that’s something HUGE for me to focus on. I know what this season can and will bring, it’s a matter of how I need to figure out and learn to focus on what can be the positives out of it. And that is a new year’s resolution in and of itself.

(Loves his new music table, becoming quite the pianist!)

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!)!