Happy (almost) 5th Birthday Riley James

Sitting here on the eve of Riley’s 5^th birthday, I remember how much pain I was in five years ago; I was on the edge of almost 30 hours of (active) labor. At the time I couldn’t even fathom five years down the road, having a preschool grad and talking about kindergarten. But I did think by that time I would have already gone through pregnancy again and we’d have an almost 5year old and a baby or toddler. Someday still maybe, but at least for the current present, Riley is all that matters. The fact that we’re going to be celebrating his 5^th birthday is so huge. I can vividly remember when we were unsure if he’d make it to his 3^rd birthday and highly questioned his 4^th. Despite everything he and we have been through in the last five years with his health, I’m genuinely surprised and over the moon with how stubborn, strong and stable he is right now. It gives me hope for the next five years. I know how precious life is with him and how that can quickly change, but for once…I have more hope than I thought possible.

Without hope of Riley’s continued goofy smiles, things can get rough. I admit, that I’ve battled depression for probably the past four years or so. When things are good, it makes it that much easier to make me feel the same way. And when things are bad, I’m usually numb and so focused on him for a good period of time, until it sinks in and then it’s a slow climb back to some sort of normalcy. But I’ve “learned” how to manage it, by taking care of myself when I can, focusing on a lot of positives, returning to work and doing something I actually like, etc.

I thrive on routines and lists though, and the past several months it’s been shaken up so much with changes. As boring as it can be to go stretches of a specific daily routine, I miss it. I started working for Encompass as a Family Resource Coordinator in Birth to Three Early Intervention in November and am now working with the group of people who supported Riley and us through his therapies when he was younger, and I’m loving getting to do something that I care about. Not to mention the flexibility that I am grateful for, to also handle Riley’s care. But then Riley got a GI deal that sent us to the hospital for almost 2 months and I had to figure out how to juggle that and work. Although on the boring days waiting around the hospital, I was so thankful for something other than Netflix to distract me.

And now we’ve been home for a little over a month. Riley went back to school for three weeks, so adjusted to that routine again, and now he’s done with preschool (say WHAT?) and off for summer break. Shortly after he finished, my dad officially retired. Which still hasn’t sunk in yet, even though he’s watched Riley a handful of times already by himself without my mom around. And here in the next few days, my mom will be on summer break too. I’m thankful to have both of them free to watch Riley when needed, especially since I don’t have the summer off work (minus a week of family vaca in CA and a long weekend in Napa). But once again, it’s a new routine to get used to, that won’t exactly be the same from week to week. So, I make my lists and just figure out each week at a time, learn how to “go with the flow”, which I’m not always a fan of, but if I’ve learned how to live day by day with Riley’s health and care, I trust that I can adapt myself to some flexibility.

Doing the math, he’s spent roughly 15% of his life in the hospital for one reason or another. And that’s just what I can remember and count up. If you take into account what I’m missing and many random ER trips (which I don’t even bother trying to remember dates), I’m sure it’s closer to 20%. A fifth of his life, and it’s his 5^th birthday…a whole (insert so many swear words here) YEAR. It almost doesn’t seem possible because we’ve only had two really long trips, but we’ve had many several week-ers, many handful of days, and the longest stretch we’ve gone without a trip for whatever reason…roughly 8 months. From June 2016 to March 2017, and that was after we were on edge after almost losing him, he got to meet all his extended crazy Corkery family, and we got his Make-A-Wish trip in to Mickey’s house in Florida in because we were afraid of putting it off.

There are so many days when I don’t think I can take it. Times I wonder what life would be like if I hadn’t found out I was pregnant. The weight on a parent’s shoulders of the high care a medically fragile special needs child requires, the worry if you’re doing enough and doing it right, the stares from strangers, the different ways you have to do so many things to accommodate your kid, is… for lack of a better word, a lot. But in the end, I would give my life for this boy. I would go to the ends of the earth for him, because I can’t even fathom my life without him. A reality where I hadn’t found out I was pregnant with him, is just static. He is our world, he is worth it, he is the best gift ever. And that outweighs everything.

We have good friends getting married this weekend, and we’re so excited to celebrate them and with them. Also makes me realize that Chris and I have been together now for over 11 years and married 7 in July. We spent our 20’s together in college, buying our first cars, falling in love, having fun with friends, getting married, buying a home, getting a dog, getting a very big surprise on a “pee-stick”, having a beautiful baby boy, finding out that he has some sort of underlying neurodegenerative disease, and almost loosing him. Man, that’s a lot of shit. Good and bad. Happy and sad. I’ll be 32 at the end of next month, and Chris 33 in December. Our thirties have started out more adult. We have this amazing goofy happy KID (not baby…. not toddler…not little boy…. KID, 5-YEAR-OLD KID), who loves us both fiercely, adores his grandparents and uncles, and has such joy being around friends (his uncles and aunties, and his own age buddies). Despite how shit hits him when he’s sick, he’s a fighter and finds a way to bounce back and tell docs they’re wrong. We’re finishing a refi on our home that will allow us to do a lot of adult work to it, like exterior painting, expanding the front porch and back decks, new fencing, landscaping, and most importantly, installing an exterior lift for our growing KID. I have to admit, I’m fairly pleased with how our thirties are starting.

I’m still a bit in shock at him turning five, and the fact that I can tell that he’s understanding the meaning of it, and so excited for his birthday. I’ve been doing a count down each day this week about how many days left and how old he’s turning with his fingers on his hand, and how he’s going to be a whole hand-years old. Smiles, giggles, coos of excitement. Thinking of our developmental evaluations at work, and areas of development, I’ve seen so much improvement since he’s started school in his receptive language. You can tell, especially with certain things and repeating things several times (like each day we talk about his bday), that he’s getting it. And probably way more than I’m even giving him credit for. And his social emotional interactions have gone through the roof as well. We were so nervous about preschool, one of the scariest decisions letting strangers basically handle his care, but it was one of the best decisions we’ve ever made. He’s grown so much and grown into this awesome kid. I could not be prouder of him, in every way possible.

Happy (almost) 5^th birthday Riley Bear, Mommy and Daddy love you more than we can even say. We are so proud of the kid you’ve become, the strength you have, the adorable goofiness you possess, the smiles that light up an entire room. You may not be able to sit on your own, or run around the house, but that is what we are here for, to be that strength, comfort and entertainment, so you don’t even know what you’re missing. Because you are perfect just the way you are. We love you Riley James, happy birthday (tomorrow) baby.

Update 4.26.18 – Day 40 – Riley’s Spring PICU Stay

Thinking back to my last post a little over two weeks ago, I don’t feel like we’ve done a lot, at least in the way of progress, but our little goofball truly has. Last major update, Riley had been struggling on his BiPAP, and not really able to come off of it at all, and then he showed us quickly how bad off he was by tanking and requiring going back on the breathing machine on Sunday 4/9. Since then he’s had a brain MRI (probably like his 6^th or 7^th…), been into the OR with ENT, CT scan, and back into the OR with ENT. As of mid-day Monday, we were able to successfully remove the breathing tube again, and hopefully this time it sticks, and sticks well so we can work on going home sometime in the next few weeks. My hope, and told him to make it his goal, is to be home before Mother’s Day…that’s all I want from him this year.

His MRI a few weeks ago showed that there is still progression in his underlying degenerative neuromuscular disease. His last MRI was in early July, so progression from then is minor, like it basically has been with each scan, but still there. Nothing to indicate specifically correlation to his airway collapsing the day prior. Thankfully. Because of his stridor (humming sounds during exhalation), and airway collapse, we pushed and finally got ENT to take him into the OR to evaluate his airway. Much to their surprise (not ours), they found something! He had an abscess on his left vocal cord (which led to a staph infection). They did everything they could to clear him out, and he went through a course of 10 days of hard core IV antibiotics, just finished over the weekend. The CT scan of his neck last Monday showed a little bit of something still in the area, so he went back into the OR last Wednesday. The infection is thankfully gone, and all they had to do was minor granulation tissue clean up. ENT gave us the green light that he was ready for extubation shortly after, which was a green light for us (and ICU docs) to start working towards extubation.

   

Thankfully over the weekend as he started finishing antibiotics, his goofy personality started coming back and he started to seem more like himself. Was able to fairly easy to get him off his sedation medication and get him in a good spot with settings on the ventilator that mimic his BiPAP settings. X-ray early in the week looked to be one of the best I’ve ever seen from him. So, Monday around noon, myself, both grandmas, nurses, RT and docs gathered in his room to help him pull out his tube. He was pretty happy about it leading up to it, totally showed us that he was more than ready. Mama doc got to help get the tube out and suction out all his secretions so he could take some big breaths on his own. I had given him “our talk”, regarding that he’s allowed to cry because it may not feel good (especially taking the tape off his face, which he hates), as long as he takes some good deep breaths, which we discuss every time. He listened really well and rocked it, best extubation I’ve seen from him!

First few hours on Monday after the breathing tube coming out was a little rough just from a stand point of him having extra secretions and keeping his oxygen levels in check. Wasn’t overly surprised, as it’s a big jump for his body to transition like that, his brain takes a bit to catch up realizing that it needs to do some more work than it had been doing. Tuesday, he was super comfy all day long, and secretions were much more manageable. Last night sounded like it was fairly quiet, I got to sleep at home for the first time in days, as Chris has been sick with a bad cold. Thankful both of my boys are starting to feel better.

Yesterday we had hoped would just be another day of rest. Somehow, he missed an early morning respiratory treatment (which has been addressed), so he seemed a bit behind on the amount of secretions and little harder work that he’s needing to do to catch up. He napped pretty comfy in the morning, but kept me on my feet most of the rest of the day helping nurses, RT and docs keep his numbers stable. Tons of junk that seemed to come out of nowhere, especially after a restful day the day prior. He basically needed respiratory treatments constantly at one point to keep moving stuff and getting it out of him, and extra oxygen to keep his numbers from dumping. I could tell that docs looked a little nervous about how he was doing, knowing that they had re-intubating in the back of their heads if we couldn’t get him under control. We went up on his BiPAP settings to open up his lungs more, and kept on top of respiratory treatments every two hours (so you know he slept amazing through the night with that….ha).

Managed to keep him stable so he’s still on BiPAP, and looking much much better today. No extra oxygen needed, but going to stay on the bit higher settings to keep him well opened up. Secretions are better too, he doesn’t have a constant rattle in his chest anymore, and he’s not dumping numbers at all, unless he’s pissed. His oxygen went down into the low 80’s after his 9am respiratory treatment and people were nervous about him looking like he’d start repeating yesterday. But, rest assured mama knew there was a different reason, he was mad about needing to be changed. Fixed that, fixed his numbers. When he starts setting off alarms for specific reasons to get attention and get what he wants, verses actually being in trouble, means he’s starting to feel better! Knows how to do it well at home 😉

   

Today we’re going to try and only do respiratory treatments ever four hours, to allow him some rest in between, and hopefully set him up well to maybe start small breaks off his BiPAP tomorrow. Labs and supplements are continuing on a daily basis, but seems to be more stable now, which makes sense as he’s starting to feel better. Actually, able to back off some of them today. So far so good in the decrease in his ketogenic diet ratio, so hopefully we’ll be able to stick where we are at on that to go home on. Other than that, not too much else to report! My guess, the soonest we would be home would be later next week sometime. He needs to be able to successfully be off BiPAP for 6hrs before even leaving the ICU (from just a respiratory standpoint).

To our wonderful family, friends, neighbors, co-workers, nurses, and doctors…thank you again for all your love and support. We certainly didn’t anticipate coming in with a “stomach bug” and being here for well over a month (with still a chunk of time to go)! My hope is we’ll be home sometime next month (which is somehow next week already), and he can get back to preschool for at least a few weeks before SUMMER BREAK……………..

2018 PICU Stay Day #23

Note: I started writing this Thursday night, continued Sunday morning, FINISHED Monday Morning ;-P

Sometimes I question how many times we can go through troubles and heartache like this. Every year I dread spring. We get through winter bugs like nobody’s business, but come the change of season no matter what we do, minus all of us living in a bubble, shit hits the fan. And kind of literal this time, which we were not prepared for. Riley has thrown lots of curveballs in his 4 ½ years, with random symptoms of his underlying unknown degenerative neuromuscular disease, but a GI issue gone crazy….to land all of us in the hospital for over three weeks with not much light at the end of the tunnel…who knew? Leave it to this kid, nothing is normal and straight forward.

(Packing up at the house...waiting in the ED to be admitted...hanging out with an upset tummy...getting a special CT scan to check his GI tract...)

The last time I sat down in wrote, I was bored out of my mind during a long scheduled mundane appointment at Children’s. Tonight, I’m home sitting comfy in my green “movie chair” in the family room with Blue Bloods in the background, laundry running, Sadie curled at my feet, freshly made taco makings wafting through my kitchen…while both my boys are hopefully either both asleep, or our kiddo comfy and tucked in and papa bear headed that way, with a much quieter night than the past few. The dreaded and untrusted RT showed her face again in our room tonight, and papa bear is making sure she’s taken care of, in a more respectable manner than I would if I was there tonight…..

(Post endo & colonoscopy, where he failed to make it through on sedation w/just BiPAP, as I explained to docs that was the probability of happening; and with his puppy from his buddies and teachers at school, and Super Grover of course) 

Tonight, I write to give updates on our past three-week 2018 spring stay at Children’s. Not everyone has FB for my almost daily-updates, and being here and dealing with everything, individual updates can be daunting and exhausting sometimes. So, I write. Good thing I like to write. I get to voice my opinions and mama bear feelings.

Riley has been having a hard time tolerating his feeds (strictly gtube fed through his tummy) for the past few months. Nothing super specific, or super concerning, just the occasional irritability and extra gas, which gradually got worse. We thought the increase correlated to the change in his caloric intake in his ketogenic diet recipe (as he gained a random 4+lbs at the end of last year). Changes in his diet usually take a week or two of getting used to, but get better. He didn’t. It got to the point of him still being pissed with running each feed less than half what he’s use to. St. Patrick’s weekend was the tipping point. Bit of TMI, but he started having a little blood clots in his diapers, which quickly graduated to a lot of blood, and that was the last call. In to the ED we went the day after our St. Pat’s party, ugh….knowing we’d probably be admitted, so had all of our bags in tow. Where hoping for maybe a few days with something “minor”. I don’t think this kid knows the meaning of the word.

(Hanging out Easter weekend, post first-extubation)

We are currently on day 22 into our 2018 stay. With at least a week, plus, to go. I’m done trying to predict when we’ll go home, because when I do, some other “shit” hits the fan and we back track. Last week’s shit was problems with his secretions. They suddenly got really thick and hard for him to move them, and hard for anyone to pull out of him. So, mama bear ordered a chest x-ray and respiratory viral panel. Everything checked out normal. Next step was to take away his glycopprolate medication that he’s on to help the amount of secretions (that med has a fine line in dosing to either help secretion amount, or make them thick, if too much is given). Thankfully his secretions seem to be back to normal, and he’s back on his normal dosing of glycopprolate to help with the amount, especially since being on his BiPAP just blows them around constantly.

(Hanging out irritated with the breathing tube, happy without it on BiPAP)

Now that we have control of this issue…it’s become obvious we might have an even bigger one on our hands. His airway. This is where I want to yell, scream, curse and cry. It terrifies me, I can’t and will not bring him home until the issue is figured out and resolved, somehow. I won’t risk him having some big event at home, where his airway somehow collapses. Since he was extubated a week and a half ago, he’s been making little “humming” sounds. We thought at first it was just his voice coming back, and were more focused on getting his secretions under control. But over the past few days his secretions have been more normal, and the humming has become obvious it was with every exhale, so not purposeful. ENT did a bedside scope, and sure enough showed the vocal chords closing with each exhale, creating the sound. They weren’t overly concerned about it, and there didn’t seem to be any upper airway (above the chords) damage or irritation. Now of course yesterday (Sunday) he started making kind of a wheezing sound with inhales on top of the exhale humming. He didn’t look very comfy all day, little higher heart rate, hard time getting coughs to move above his chest, and on BiPAP the whole time. I knew in my gut something wasn’t, and hasn’t, been right. Slowly working with docs to come up with noninvasive ideas to try and help, but he decided to show everyone how bad off he was, and quick.

(First momma snuggles in like a two and half weeks)

Shortly after his 4pm respiratory treatment, he started struggling more. RT got out really really thick secretions (very impressive for them and me, for what we all know what “normal thick” looks like) out of him after cough assist. And he started having oxygen issues, trying to recover from having that junk pulled out of him. He quickly spiraled not being able to take any breaths, and tanked hard and fast…having a staff assist called (pretty equivalent to a code blue). I watched in tears as doctors raced to save him. I’ve experienced him being “bagged” more than I care to even try and count, and rescued like this a fair amount of times too, either due to respiratory or seizure problems. But I’ve only seen & been terrified of losing him in a situation like this twice before (once due to a massive seizure and once after trying to extubate and him immediately failing).

What seemed like hours, but reality probably not more than a minute, they had his oxygen and heart rate coming back up with the bag, never needing chest compressions. Thank god, don’t need broken ribs on top of all this. Once he was stable with the bag breathing for him, anesthesia was called (and I made sure it was not the same woman who did the harsh first intubation causing him to lose 8 teeth, and possibly doing god knows what now to his airway). They looked with a camera prior to trying to get the tube in and found that his vocal chords where closed. We had several different sizes of tubing to try, but if the doc couldn’t get the tube through the chords, our next option would have been a bedside trach. Godbless that doc for being able to somehow slip the tube through his vocal chords. After the hour plus of chaos, hooking him up to the vent and cleaning up, we were left with a drugged and tired boy. But still here and getting the air, he needs.

This morning he’s a little stoned on some sedation medication to keep him comfortable, but has opened his eyes frequently and even squeaked out a few smiles for both myself and Chris. Just finished with rounds, and doctors have his brain MRI set up for 7pm today. We were insistent on having it done on a particular higher technology machine, to keep his pictures consistent with all his previous ones. The one time it was done on a lower grade machine, his disease appeared to be more progressive than it actually was/is. I’m sure we won’t have results on the MRI until sometime tomorrow, hopefully at least by morning rounds. Depending on what it says, the next step would be for ENT to take him into the operating room to safely (as possible) evaluate his airway. Which requires them pulling the breathing tube out, so they can see exactly what his vocal chords do, along with the rest of the airway. Feels certainly risky to us, but it’s the only way to evaluate and in the safest environment as possible. Doc are confident if the MRI doesn’t give us a clear answer on what/why this happened yesterday, and ENT goes in, that they should have no problem getting the breathing tube back in, as it went in with ease yesterday bedside.

(And it's back in...)

We are all so incredibly blessed with amazing family, friends, co-workers, and neighbors. We came in for what seemed like a common issue, might be in a few days. Now day 23, 2^nd round on the vent, and both of us not exactly sure what day it is….it’s spring right?! ;-P Chris has been able to go out to work most days, and manage his guys from here on days like today. I’m blessed to have amazing women that I work with pick up some slack where I need it, and be able to remotely do things (which at times is a nice distraction vs binging Netflix) from here, that I would normally be doing from home anyway. If we didn’t have understanding and compassion from work, good lord who knows what stress levels would be like. And friends and family members jumping in to give us breaks, offer things up, and show their love and support helps get us through each day.

I don’t know what the next few days will bring us. I have to keep reminding myself to stop trying to overthink things and predict the future, and to not go down (too big of) rabbit holes on the internet trying to figure things out and find my own crystal ball. This kid does what he wants, and does what he can, and that’s all I can ask from him. He’s more stubborn than Chris and I combined, and has the fight and drive to continue being a goofball, as long as his body will let him. And wonderful doctors and nurses who can’t get over how big he’s gotten, how awesome his hair is, and his adorable smile, that would put in 110% anyway despite all that, certainly has not been a negative. I thank them every night in my prayers for keeping by smiley goofy little man with me and his daddy.

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.