Sitting down with my morning coffee, while the boy naps, trying to figure out how to start another one of these. There are some days that it’s relatively easy to spring out of bed and get the ball rolling for the day. Get the boy up and dressed, play for awhile, put him down for a nap and get things done around the house, get up and play more, Daddy comes home from work and I escape from the house for a bit to go to the gym or run errands, and then all relax together as the day starts to end and the monkey gets ready for bed. There are other days, where I feel like I could lay in bed all day. Whether it’s just to snuggle this precious face and soak in how happy I am to have him home, or to hold him tight and pray he continues to do well and not scare us. Sometimes finding a balance with a special needs child who has been through so much in his few years of life, especially his second year, is not always easy. A lot of the time you want to go about your routine, with them being a big part of, and all is right with the world. Other times, you just don’t want to let them go; especially not knowing their future. Maybe someday we will have a better idea of what that future looks like, and there is still that chance (and it’s more than a small chance), that we won’t. Riley has been home from his latest hospital trip for 16 days now. Yes, until he reaches the end of the month, I’m counting in days. You know how our last year has been, I’m still holding my breath while we get back into that routine of normal life. I very well could end up holding my breath for longer than that, but taking a little bit at a time.
Since being home, it’s been a bit of a struggle to find a normal sleep routine for him. Being in the hospital, poked, prodded and messed with all the time, sleep routines get thrown out the window. Then coming home, it takes forever to ease away from up and down, up and down. Right now, Riley likes to be up super awake and interactive from like 4pm on, until he finally tuckers out between 10-11pm (even though he gets put in bed with lights out by 9pm). Then he wakes, usually, at least once in the middle of the night. Thankfully he just jabbers to himself for anywhere from 5minutes to an hour, doesn’t need us running in (but that doesn’t mean we aren’t awake listening to him!). Then usually up when daddy gets up and starts his feed at 6am, jabbering away for an hour or two, then he’s ready for a big morning nap, anywhere from 2-4hours. Then slowly wakes up more and more through the afternoon. Hopefully someday we’ll be back to him falling asleep earlier, staying down for the most part, and a (somewhat) shorter mid-day nap. Yes, I do realize that a lot of babies and toddlers have crappy sleep routines, but he’s always been pretty good with his, until he has a hospital trip and we have to redo it all again. Just like any other kid, it takes time. And COFFEE.
That’s really the only thing I think I can complain about, on behalf of Riley, since coming home last. Wait a minute….that’s a GOOD thing. It’s a NORMAL thing. That’s right, I’m dealing with something a normal parent deals with, from time to time. Can you see me dancing in my chair (and laughing at myself)?? Shall I continue on with the information I’m sure you all are waiting and looking for? Thinking in your heads, “Krista, stop rambling and give me the good stuff”? Ok, but I’m going in order of how the past two weeks have gone, so you’ll just have to read everything to find what you’re looking for.
Last Monday, Riley and I went and followed up with the pediatric pulmonologist from Swedish. Riley had been discharged with sleeping with .25 liters of oxygen at night. Not a huge deal, he’s not on it 24/7, which had been talked about originally. But we do have this big noisy concentrator in his room now, one more piece of medical equipment. Grr. Of course, concentrators aren’t made to go below 0.5 liters, without setting off this really loud annoying alarm, so that’s where he’s going to sit at, whatever. The doc was much happier seeing Riley healthy, feeling well, and closer to a baseline. However, beyond that, didn’t get much in the way of direction, things we should do, etc. Just see how it goes kind of thing. Well our last year has been a see how it goes, and it has gone with many hospital trips. We need plans in place at this point. We went to Children’s that Thursday and saw a pulmonologist there, who I love. She had ideas, plans, and was horrified by the trach talks that we endured while in the hospital. Done, she’s he’s doc! She wants Riley to have an updated sleep study done, as the two he’s had where during his fall PICU stays, where he was sick &/or dealing with seizure related issues, nowhere near feeling well or at a baseline! So how would those be accurate? Exactly. I took Riley in yesterday morning to see his sleep doc with Children’s, and she’s in agreement; and wants it sooner than a typical scheduling (on average 6 months out!), so he’s scheduled for the night of 7/20; seems way farther away than only two months! Hopefully with that we will be able to determine whether he truly needs that O2 at night at all, maybe just use it while sick, and if he needs to be seen by an ENT (ear/nose/throat doc).
I wrote out all of Riley’s doctors, nurses, therapists, etc. names and contact info yesterday so we can have it all in one place, he’s working his way over to being a Children’s kid. We’ve determined since we like, and trust, our SCH pulmonologist, that since most of his hospital stays are respiratory related, or end up turning into that, he will be visiting Children’s from here on out. We will miss our Swedish nurses greatly, but he’s reached the point to his care needs to be at SCH. Vlcek has ties to Children’s, so for the time being, especially with seizures under control, he will continue to be Riley’s primary neuro. However, one of those doctors and nurses on his list, are his Children’s geneticist and genetics nurse; FINALLY! Riley had his appointment this past Monday, and as I expected, we were there for two hours. A lot of going over Riley’s history, family history, and ideas. Riley has had two genetic panels (test 50-100 specific genes, when there are 20k+ in the body), one for epilepsy and one for developmental. Both showed some variances (odd things that don’t tell us shit), but didn’t help in the way of answers. In fact, one showed a slight mutation of a specific gene, that could mean he has Angelmans Syndrome, which he got that exact mutation from me, but every doctor he has ever seen is in agreement that, that is definitely not what he has; the mutation is a fluke.
We walked away from his appointment happy to have a direction and plans set in place. Happy that we didn’t come out with some huge disappointment. Our plan is to move forward with the whole Exome Sequencing (a technique for sequencing all the protein-coding genes in a genome (known as the exome). It consists of first selecting only the subset of DNA that encodes proteins (known as exons), and then sequencing that DNA using any high throughput DNA sequencing technology). I had talked about Genome Sequencing in the past, but this seems to be the determined route, by many of his doctors, to go with. Either way, it looks at all the genes, is very expensive, and hopefully can give us an answer. But odds aren’t great, since he’s had the other two small panels done, odds are 50/50, at best, and that could be pushing it. At this point though, we have to exhaust all options, and for all we know it could show something funny again but not give us a good answer because much just isn’t known. That’s where being a part of the doc’s research group could help. Riley is now a part of a UW research group for Molecular Analysis of Genetic Neurological Developmental Disorders. All it took was some of his blood and our saliva, signed paperwork on all three of us, and he’s in. Now finding any answers, or abnormalities, or just something funny looking, through the research, could take just as long as the Exome Sequencing (12 weeks once it goes through pre-authorization process), or much much longer, if anything ever comes of it. But the nice thing about having him a part of this group, is that new genes are being understood more and more, each month (especially epilepsy related). So even if we can’t get something clinically, on a research basis could find something on the newer end, which can be looked into further. And that could be sometime this year, or even 10 years from now, when genes are much more understood. Plus, it could help other kids like Riley find answers as well, and as parents, we are thrilled to help with.
So for now, we do more waiting. We have a path carved out with genetics for the time being, and we check in on a regular basis (or maybe that’s me bugging on a regular basis…). We move forward with keeping Riley healthy, and working with his new pulmonologist and sleep doc on possible “healthy” respiratory issues. We keep Riley going with weekly PT, and push him as much as possible, without pushing too hard. We continue to work with PT and our special equipment vendor on ordering Riley a stander, bath seat and therapy stroller, hopefully we will see all of those in the next few months. We enjoy our summer, and routines of normalcy. We celebrate our strength, courage, and enjoyment of Riley’s second year, with his birthday next month. Maybe as summer comes to an end, we’ll be in a much different place than we are now. A positive place with a stronger boy, things to help him continue to grow, confident respiratory status, and fingers crossed on something coming in the way of genetics.
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