Note: This is probably the most raw and emotional blog I have ever written. I fully admit I've been REALLY putting this off because it's extremely hard to swallow and talk about. Still no specific diagnosis, but things have come up recently that have skyrocketed both of our stress levels. It has taken awhile to get to the point of feeling even OK to talk about. I ask you to not comment things like "it's all going to be ok", "he's going to be fine", etc. Yes comforting words are nice and appreciated. However, having something like this be a possibility and not knowing what it could do to our family is very real, and I need for that to not be sugar-coated.
As always, it takes me a bit of ramble writing to figure out how to start my train of thought with these entries. The past two months have had its good moments, and it’s bad. Our lives are so much of learning how to juggle and deal with that. Riley’s smiles make it all worthwhile though, we will go through anything, for him (and each other).
I sit here at the kitchen counter while he has his third meal of the day pumped into his stomach via his g-tube, half paying attention to what I’m writing, and half tickling his feet, listening to him growl (as he just woke from a nap), and making sure he’s “swallowing” ok, not having a seizure, breathing alright, and the list goes on. This is what I do basically all day long. If my full attention is not on him doing PT related things, playing, getting him to take his nap, etc; the corner of my eyes are constantly on him with a faster heart rate and higher blood pressure, scared something is going to happen that he isn’t going to be able to handle, let alone me handle. I’m sure I’m not the only mother that has feelings of worrisome for their children, but when your two year old has multiple medical issues (especially with no diagnosis and the uncertainty of new medical issues popping up at any moment), those feelings are so much more intense. And I’ve been feeling a lot of that lately, as I know Chris has too.
I’m the kind of person that isn’t good at talking about things, feelings especially, and sometimes all I want to do is talk about Riley and what he is (and us) going through, to make people understand and try and see our world from my eyes (or behind my glasses at the moment; that’s how serious I am about getting this written). Other times, it is the absolute last thing I want to talk about because a) I either need an adult/mommy/caregiver escape from reality for at least 5 minutes b) I’m terrified of having a panic attack and breaking down trying to talk about him, because with that comes all my fears in the “still unknown”, and regular daily unknowns; or c) I could spend hours on end talking and explaining things, and have no idea how to give a quick condense version of an update. That’s where his blog steps in sometimes, to act as my personal therapy (and to give you those updates!).
Riley has made some significant developmental progress, just in the past month or two; things that it’s even easy for me to notice, and I have the hardest time doing so being with him 24/7! He’s suddenly much more aware, bright eyed (of course time of day/meds are always a factor with this), reacting to noises & things going on around him, starting to communicate the want for a toy with his eyes, etc. He’s reached about an hour per day in his stander (sometimes he could probably do a little more, and some days he needs to come out a little early), and his leg muscles are becoming much more noticeably strong(er). When having him sit up in your lap, he really just needs about 25% help in holding his head, and he does all the rest! For a short period of time anyway. He’s head is still very heavy and he hasn’t gained much more in neck muscles, but he’s been working well from the tummy up. He can keep his back nice and straight, stay stable without slumping over, etc. Just has to do it his own way, a little backwards, but it’s very good progress, and much quicker lately.
We’ve also hit many speed bumps over that period of time too. After an attempt at lowering one of his seizure medications, Riley had his first big apneic seizure since starting the ketogenic diet in March. Had a clear EEG afterwards, and came home and had another seizure. So that med is back up at its original dose. He went another few weeks, and then had another random one. Went a few more weeks, and then started having a handful a day, for several days. We ended up having to raise a different med up a dose to help get them to stop, and it became obvious after we got them under control that he just was feeling like CRAP. Well, now we know where that cluster came from. But still seeing, and dealing, with your child randomly stop breathing, not knowing how long it’s going to last, if he is going to come out of it on his own, how much you need to intervene, it NEVER gets easier. I swear I have a heart attack every single time. Then it takes multiple weeks of him proving he is doing well before you even begin to relax a little.
He’s been seizure free for 16 days now, and I’m finally letting out a breath, as I hope they’re gone (for now) as he seems to be feeling much better. But we are also gearing up for surgery on Friday, and with that brings back the fear of him having some. He’s scheduled for an 8:05amsurgery at Children’s, a tonsillectomy (removal of both tonsils and adenoids) & plastic surgery to remove the two cysts on his face. With his airway being messed with, the probability of needing a breathing tube for awhile, isn’t off the table; in addition to a difficult recovery attempting to manage (and hopefully swallow) his secretions. Then with having to fast his diet before, have anesthesia, and him probably feeling like crap after surgery, brings up that fear of seizure activity. Please many prayers, fingers & toes crossed. We’re expecting and planning for a longer than anticipated stay, mainly so we’re not disappointed!
Now for some news. Most saw (via FB) that insurance AMAZINGLY overturned their denial and have now approved for Riley to have his whole exome sequencing (genetic testing) done. Even the nurse that called to tell us was so happy, as she doesn’t get to say that very often. Needless to say on our end, the shock still hasn’t quite worn off. We go in mid-November to sign all the paperwork w/genetic counseling and having mine and Chris’ blood taken (they already have Riley’s banked), and off it goes. I’m told that results really could take anywhere up to six months….more waiting, should that really be a shock? So MAYBE have an answer come spring time (a year after our appt with his geneticist), it’s still not a great shot (as he’s already had smaller genetic panels done that haven’t yielded anything, not specifics anyway, a few…”oh that’s interesting, dunno what that means”).
Good news done. Now this isn’t 100% FOR SURE bad news, but it’s still something that we’ve had to deal with, learn to swallow, and learn to be OK with still not knowing and having it be a possibility. We’ve never had an actual possibility in the past almost two years of searching. After Riley had his MRI done in August, we met with Vlcek at the beginning of September to go over the results. It’s still not clear, “Riley has this”, but for Vlcek to actual bring up and talk about a few different things that he may be seeing, is HUGE. He has never done this before, and we have a very good relationship with him now that we know he wouldn’t discuss this with us unless it had merit. There is a possibility that Riley’s underlying disorder is a demyelination or dismyelination disorder (http://www.news-medical.net/health/Myelin-Demyelination-and-Dysmyelination.aspx). Direct quote from his MRI results: “Delayed myelination versus hypomyelination, with the pattern of myelination most consistent with that of an 11 month old infant. Myelination progressed between the December 2013 and July 2014 studies, but has only minimally progressed in the interval”. So we can’t say for sure that he definitely has one or the other, just that it’s a possibility. There aren’t many myelin experts in the world, the top dog that we might be consulting after we get genetic results, is based in Amsterdam. Thankfully Vlcek has already spoken with her a few times throughout his career, if/when we need to, he’s prepared to reach out; we just want/need his genetic results first so she can have all his information to help.
The fact of not having a diagnosis, not knowing what Riley’s future really looks like, always waiting for the other shoe to drop with a new symptom or life threatening event, takes its toll. We’ve always known, and feared, in the back of our minds that Riley may never develop and walk. We’ve known, and seen firsthand more times than we’d like to remember, that we could lose him earlier than we could ever imagine. Those words are VERY hard for me to write, let alone say, but it’s a true fear. And with his many apneic seizures (a few we only got him back was because we were IN the hospital), many many respiratory failures (all thankfully in the hospital too); it’s not easy knowing that a degenerative myelination disorder is on the table. We’re already been considering the need to sell our house in the next year or two to have something more accessible if he truly never does/can become mobile, but the not knowing for sure on this, eats at you more than actually knowing (where you could accept, deal, plan, etc).
I’ve had my fair share of tears, panic attacks, and spikes in blood pressure, sometimes you wonder how much you can take. But I have no choice, I may not always deal with the ups and downs, news verses no news, answers, questions, etc; but he is worth every tear, punch in the gut, and heartache. Because on the flip side, I get to love this goofball with all that I can, give him the best life and experiences as possible. Bask in his smiles, giggles, kisses and snuggles. Fighting for him and his life is worth more than anything. I can’t not, it’s the cards dealt, and I wouldn’t trade the hand for anyone else. He is worth every moment, good and bad. Sometimes we just have to fight a little harder for the good.
