I apologize for how long this entry may end up turning out to be. I apologize for going so long without an entry with updates. I think I just needed a little bit of a break away to focus on the current things to do and to enjoy the healthy time with Riley home. As of Thursday, we’ll have had him home for a solid four month stretch without a (unplanned…or planned too actually) hospital trip. Ironically, Thursday is the day he has an MRI scheduled at Children’s. But it’s scheduled, and just an in and out deal. Appointment really…with sedation. Having Riley home and healthy this summer has been absolutely amazing. More than amazing really, I don’t think I could have asked for a better summer, under the circumstances. We’ve done a lot. Checked a lot of things off the list (taking advantage of being healthy), gotten out of town numerous times, lots of BBQs, laughter with friends and family, lots of smiles & pictures; pure content and normalcy.
As summer starts to wrap up (and football season begin), we still have lots more “to-do”. But if we can manage to do all these things and continue our trend of staying out of the hospital (unless planned, which will happen fairly soon), that is our goal. To continue to make small improvements, and take the next step (or roll in Riley’s case) forward. I could make this the longest drawn out blog with all of his updates over summer, and things coming up, but I’ll just make a “mini” recap (and now that I start typing it out…it’s not all that mini!).
· Riley received his stander (fully covered by insurance, cost over $5k if not), and is slowly working on increasing time in it. He’s gotten use to being in it and can now move his arms about with ease, mostly with putting his fingers in his mouth. He’s at about 15min per day (circulation changes begin to happen in his legs after as they’re not use to being up and baring weight). Once we get his AFO’s, we will increase time and number of times per day.
· We met with is Ortho doc for the first time and had a handful of X-rays to check his bones and joints. Surprise it reveled that he has low bone density. From not being able to be up moving around, that’s not overly surprising, and being on the Keto diet doesn’t help (eating all fat). He’s going to have a bone density scan here soon to see if it’s all strictly from his hypotonia, or if he possibly has an underlying endocrinology issue (like the blood having too much calcium and not enough in the bones; that’s an idea). Also, the muscles in his hips are super tight, so he can’t lay his legs straight and flat, without bending his knees. We are working in PT right now on massage and stretches to help with that (also the more we can get him in his stander, the more that can help too).
· Riley also got to meet with his Rehab doc for the first time and get his prescription for his AFO’s (which have been fitted, Seahawk customized, and picking them up on Thursday). He also has a referral to start aquatic therapy through a local company, which we will be starting sometime this fall. He sure loves being a fish, so we can’t wait to get that started!
· We drove down to Gig Harbor to pick up the boy’s new ride, aka customized therapy stroller. I definitely get some interesting looks from strangers trying to figure out exactly what it is, as it’s not a wheelchair, but definitely doesn’t blend in with “normal” strollers. Whatever, he’s so much more supported and it can do way more for him and us. Kind of looks like his own customized ATV the way it’s made! He’s slowly starting to get more use to riding around in it.
· I took Riley to his first dentist appointment, and it has been the first doctor’s appointment in a long time, where I’m told everything looks NORMAL. Can’t even tell you how happy that made me walking out of the appointment, to have something to not need to worry about. He has all of his teeth (poked through or not), yes coming in a bit slower than normal, but not crazy slow. And it’s funny because now most of his teeth that he didn’t have just a few weeks ago at that appointment are trying to come through now! We’re told that since he can’t eat normally, that he doesn’t have that constant stimulation to bring his teeth in faster, and bring the gum line up. But it all looks good, and he’s gotten really good at using his fingers for stimulation!
· Finally met with ENT, and they agreed his tonsils need to come out. The plan (as of now) is to take both tonsils and his adenoids. Most kids, this could be an in and out procedure, but with Riley’s medical history & risk with anesthesia, we are planning on a minimum of one night at Children’s PICU, if not through the weekend, and into next week, dependant on how he does. We won’t be surprised if he ends up needing to be intubated afterwards, due to his throat being sore and having difficulty managing on his own after having that area messed with. The hope is, whether big or small, that after surgery and recovery, having these suckers gone will help his obstructive sleep apnea (which in turn helps seizure control), and ability to swallow. Whether it helps minimally to control his secretions better, or even more to build up controlling that and someday try something more. For all we know now, he doesn’t want to or can’t swallow well because his throat is sore all the time from his tonsils. We will see! Surgery is scheduled for October 30th.
· Since his seizures have been so well under control, we got to decrease one of his medications, by a little bit. It’s a great step in the right direction though! We see a small seizure, or what we think is one, roughly once a week, or every other. Obviously we can’t watch him 24/7, nor does he have an EEG attached to him constantly, so that’s our estimate. But it’s night and day since the start of his diet, and we will take it! It’s actually been almost 6 months since his last EEG, when he was hospitalized for unstoppable apnec seizures. So we will be having one done here in a week, to get a real idea of where he is at on a baseline with his seizures.
· Riley also has a repeat MRI this Thursday, his last one was in October that showed some abnormalities from one of his first antiseizure med, and other abnormalities that were questionable. The ones from the med should be gone now, so when we meet with Vlcek on the 3rd, we will hopefully have some updates and answers from his MRI, bone density scan, and EEG. And some sort of plan for the near future. Other future things we have coming up are our first trip up to Sequim in over a year, dermatology appointment, follow-up pulmonology appointment, continued PT, continued exome testing appeals process with insurance (and at some point send off and wait for results, once $$ part is taken care of), tonsil surgery, and the holidays. I’m sure it won’t take long to add many things on to that list, but for now, after an eventful summer, it’s enough!
Thinking back to his first neurology appointment in December 2013, thinking it wasn’t going to as big of a deal as it turned into…it seems like so long ago. We thought at the time maybe we’d have some sort of answer and prognosis in six months to a year; never thought we’d be a year and half plus into testing and be nowhere near an answer. The closest chance we have is when his whole exome sequencing is finally over and done with, and by the time insurance and $$ is worked out, 12 weeks or so for the test to be processed, it’ll be January. And that’s a 50/50 shot at best, and if it still yields nothing, it could take multiple more years, if we ever have one.
I try very hard, most of the time, to focus on the present, keeping Riley healthy, seizures under control, progress in therapies, etc. However, there are times more and more where I wonder what his future looks like. Will his stander and PT help to eventually get him to stand and walk on his own? Will we someday need to sell our house because he’ll get to big to carry up and down the stairs? Will he be able to go to school like a normal kid his age, or even to special ed? Will his seizures or serious respiratory problems (when sick) someday get the better of him, and take our precious boy (we’ve already been through many close calls)? Will we be able to afford an additional child, and will he/she be at risk for being born with the same condition as Riley? Those are the days where I wished we had even a cloudy crystal ball to help give us some sort of idea.
From a parent’s stand point, this why genetic testing should be considered MEDICALLY NECESSARY, because it could be our cloudy crystal ball, if not a clear crystal ball. Then we can at least plan accordingly, make sure Riley has the best care to help him succeed 200%, have other organs/systems in his body checked out, etc etc. What if he has some genetic condition that could ultimately start affecting his heart in the next year or two, and we have no idea that he should start seeing a pediatric cardiologist. Insurance companies, pharmaceuticals don’t see (or care) a specific sick child, how their decisions and actions affect them and their loved ones. They have a different goal in mind. Yes there may not be some sort of cure or treatment for a specific genetic condition, but knowing what could and probably might happen, to plan and care accordingly, could mean as big of a difference between life and death. So if we still don’t have a better idea after genetic testing, it’s going to be a lot of becoming an even pushier parent/advocator. Pushing doctors to do everything they can to help care above and beyond for Riley. Pushing specific doctors for additional ideas, whether it’s theirs, their colleges, or some other doctor half way across the world. Getting online and doing everything we can to connect with other families, find answers ourselves in what we can do for him as far as new doctors, clinical trials, getting on message boards, etc etc. I’ve already started to just chisel at technology to find some sort of help or direction, but unfortunately until his genetic testing is complete it’s hard to know what direction to really go.
Until a better, or different, direction comes into view, it’s more of making our own progresses at home and with our doctors. Doing what we can without answers to keep this goofball healthy and thriving.
