12/28/18: Speak For Yourself Communication App

A few days ago, someone posted on our SCN8A Facebook group about augmentative and alternative communication devices for our nonverbal kids. Most of our kids are nonverbal, and the ones who do have a few words also rely on sign language and different ways of communicating to be fully understood, since most of them struggle with expressive language. Bennett has great receptive language (meaning he understands most of what we are saying to him), but his expressive language is really low (meaning he can't tell us what he is thinking).

He does have a few signs he uses consistently and we get along alright with understanding most of what he's saying, but his vocab is really limited to what we already understand and assume he's saying. Just for the record, the words he has right now include: food, drink, water, shake, macaroni, Daniel Tiger, outside, swing, go, car, bye bye, love you, mom, dad, yah, no, uh-oh, help, want, please, thank you, and probably a few others I'm not remembering right now. We have to prompt him 95% of the time to use these with us, though, and the AAC (augmentative and alternative communication)  device is supposed to help him with initiating contact with us spontaneously.

I've thought about using an AAC device for a few months now, but I've been hesitant because Bennett does have a few words and sounds and I'm nervous to mess with his language development. After reading this post that someone shared, though, I finally felt like I'd found a good system that could help expand Bennett's vocabulary. I'm still nervous about whether I'm doing the right thing introducing this system to him, but I'm hopeful and excited about it!

It's called Speak For Yourself, and it's an iPad app you can download. We have an iPad mini we hardly ever use, so it wasn't a big deal to devote it solely to Bennett as his communication device. The app is amazing in a lot of ways, not least of which that it is ridiculously easy to customize and edit. It has the capacity to give Bennett 15,000+ word options, but we were able to start with literally just "eat" and "drink". I found pictures of his foods and drinks he's already familiar with and put them in there so he would know which buttons to press, and so far, he seems to be understanding the gist of it!

Here's his first meeting with the app (I can't get the video to load right now for some reason, so I'll try again later). By the end of the session he automatically knew to press "drink">"water" to get to water. And he knew where "eat" was to open up the menu to get to "peanut butter". He had some difficulty pressing the specific buttons correctly, but today (the second day of using it) he seems to be doing much better with his specificity. I'm amazed at how good he is at remembering where the words are! 

12/19/18: Official Autism Diagnosis.

Yesterday, we finally had our official Autism evaluation with Utah Behavior Services (a child psychologist) and very quickly received confirmation that Bennett does, in fact, have Autism Spectrum Disorder. It was an interesting experience to be in the room with the psychologist watching him test Bennett and seeing the deficiencies so clearly. I think we've just seen Bennett come such a long way that I forget how much he still doesn't do--like care if we're in the room or not, make eye contact, initiate engagement from us, smile easily, etc.

While it was difficult to watch him basically ignore the psychologist and me for an hour, despite repeated attempts to engage with him in play, it was also reassuring, in a way, because I have felt that he has struggled socially for a very long time and it was nice to have an expert validate that for me. It also helped me feel better about feeling like it takes so much work to engage Bennett and play with him because he actually requires a lot more work than most kids. It made me feel like a better mom, haha.

One of the first things the psych said to me when we walked in was that a lot of kids get an Autism diagnosis when they really shouldn't because it's more of just a language delay, a sensory processing issue, a general cognitive delay, etc. I think he was preparing me for not receiving a diagnosis despite the language issues. But within about 10 minutes he was quick to realize that I wasn't nearly as concerned about the language delay as the social impairment (as far as the reason we were there for the testing). As he watched Bennett playing in the room (before the official eval had even started), he was already pretty confident he would qualify for a diagnosis. The formal evaluation just further confirmed it.

One really nice thing that came out of the evaluation was that the psych was so profuse with his praise for Dave and I for how hard we've already worked with Bennett with early intervention. He was able to see that Bennett could perform a lot of socially appropriate behaviors because he had been "trained". These were things like pointing, signing, asking for help, looking at us when we called his name, sitting down when we asked him to, etc. Those things have taken months to achieve, and he could tell that Bennett didn't really understand why he needed to do them, but he did them anyway because we have worked so hard on them with him. He was really complimentary of our emotional engagement with Bennett's development already and said he was hopeful that we would continue to really help him a ton as he gets older.

So...what does this all mean? Basically, I wanted to make sure we had an official diagnosis (if he really did have autism, of course) because you qualify for additional services in the schools as well as different therapies insurance will be willing to cover better. He recommended ABA therapy, which was heavy.

ABA stands for Applied Behavior Analysis, and seems to be the gold standard for helping kids with autism develop more neurotypical social and adaptive behaviors. It's pretty similar to what we already do with Kids on the Move, but the difference is that it's 25-40 hours a week of in-home therapy with Bennett, where KOTM has been basically about an hour or two a week with different therapists. Obviously this is a massive life-change, and I'm a little overwhelmed about how to handle it.

Finishing my PhD is looking more and more impossible and I worry about Olivia getting the attention she needs, as well as Dave and I not cracking under all the stress. I know lots of families do this and people say it really helps, but I just feel nervous and I've never really understood how people do it, to be honest. I guess now I'll find out, right?

*************

As a side note: We are almost 5 months seizure free!! We've stayed at about 2.7-3.0 mL of Oxcarbazepine and it seems to be controlling things. The CBD oil has continue to help with his engagement and spaciness (although he's been spacing out more and more the last week or so), and we added and appetite med (Cyproheptadine), which helped a little with his eating in the beginning, but now might just be making him hangry while he's still not willing to eat anything besides macaroni and chocolate chip eggos, haha. Pediasure is life...

Here's a video of Bennett "reading" to Olivia...and saying "Balloon"! <3

We noticed massive improvements in his engagement with us when we started playing mellow classical music in the background at home a few weeks ago. It seems like it is much easier for him to make eye contact and stay focused with us than it used to be, which is awesome. Now if the music is off, he'll be harder to engage and we won't realize it until we remember we need to turn it on. It's kind of crazy how quickly it helps him, actually! 

As always, thanks for reading! 

3/7/18: First Cardiologist Appointment--Meeting Dr. Tristani!

Today was a great day in our journey with SCN8A epilepsy. We have known that the SCN8A mutation specifically affects the sodium channels in the brain and that it can also manifest in the sodium channels in the heart. We think this is why our kids are at such a high risk of SUDEP--because their seizures often come with heart problems which can turn fatal very quickly. I had asked Morita for a referral to a cardiologist to get a workup on Bennett just so we have a baseline and can start watching his heart (this is what the standard protocol seems to be for our kids). She referred us a few months ago but we never got a call from them and it just sort of fell to the side. A few weeks ago Morita's office called us and asked if we had been seen yet. This was interesting to me because it was so proactive on their part, but I'm pretty sure it was because one of the other SCN8A families here in Utah went to see her that week and asked about a referral as well. (I referred them to Morita as she seems to be the best pediatric neurologist for our kids right now, and they liked her!)

Anyway, so Morita sent over another referral and this time we got it scheduled for the morning of the day my mom was scheduled to fly back home. We were going to have to go to an appointment in Draper, and then drive my mom to the airport, all with both kids. A little crazy, but we needed to get Bennett in ASAP since we'd put this off for so long. 

The day before the scheduled appointment I got a call from a nurse at Primary Children's hospital up at the University of Utah. She told me that we should cancel our appointment with the doctor in Draper (he was also with Primary Children's, just had a closer practice) because there was a doctor who specifically worked with SCN8A and knew that our kids were at risk for arrhythmias and SUDEP (she actually said that!!! A cardio nurse! Not even our NEUROLOGISTS mention SUDEP to us!), so he really wanted us to be seen by him. I was so floored I was speechless on the phone, but I told her that tomorrow was the best day because my mom was leaving after that and I was only 2 weeks postpartum, etc. She was very kind and understanding and told me she would try to fit us in later that day, but if she couldn't, then she'd schedule us for the following week. 

It turned out that the doctor had an emergency situation later that day so he couldn't fit us in, but we got scheduled for the 7th of March--1 week later. Leading up to the appointment I did my usual prep-work which usually includes printing out the "clinician's guide" from our SCN8A website, looking through the most relevant recent articles highlighting the risk of SUDEP for our kids based on mouse models of sodium channel mutations and their death rates due to heart arrhythmias, etc. In the back of my mind, though, I was hoping that for the first time during this whole process, I might actually be able to trust one of our doctors to suggest a treatment plan to us, rather than me having to bring the treatment plan to them and ask them to order the tests and procedures we wanted. 

Side note: In prepping for the appointment, the most recent article published (literally just this month) about SCN8A was devastating to read. It was a case study following a young boy diagnosed at just a few months old with the SCN8A mutation, but treated with high doses of Keppra and Phenobarbital (possibly the WORST drugs for our kids), and the study had to end prematurely because he passed away suddenly at 26 months old from a 2 minute seizure that led to cardiac arrest, which led to his immediate death. A TWO MINUTE seizure...It takes 911 at least 8 minutes to get to our house. They would have been useless at that point. The boy actually had good seizure control at the time, too, so this was a total shock to his parents and the researchers. So so terrifying and heart-breaking to read, but it underlined the importance of why we needed to get Bennett evaluated immediately. 

***************

When we got to our appointment with Dr. Tristani, I was fully expecting to have to fight for every little test to make sure Bennett was thoroughly assessed, but before we even saw the doctor, the nurse did a 10 second EKG, which was the first thing I knew we wanted done. And it just got better from there. Dr. Tristani was great. SO great. I was on cloud 9 after our appointment feeling like we finally had someone on our team who was taking this seriously and understood the situation fully. 

As soon as he walked in the room, he explained his background to me. He is a researcher of children who die suddenly with no discernible cause. About a third of those kids have been labeled as SUDEP, and about half of those kids have been found to have had sodium channel mutations (like SCN8A), which leads him to believe that the heart is playing a bigger role in SUDEP than has previously been reported. So anyway, he's working with a team here of neurologists, cardiologists, and geneticists to figure out the best way to be proactive and try to help these kids before they die. 

His bedside manner was great as well. I thought he struck a really nice balance of not fear-mongering, but also impressing upon us the fact that Bennett was at a very real risk of heart defects leading to sudden death if we don't pay attention to his heart. He told me that most kids with these issues die before the age of 2 in his study, and he suspects that their heart issues probably start a month or so before the sudden death, but went unnoticed by their doctors, so his hope is that if we can catch them early enough in Bennett we may be able to treat them proactively. 

At one point he said to me, "Even if we can't help your son, monitoring him and gathering more data will be able to help more children in the future." That was a sobering moment for me. I had to fight back tears because having a professional finally validate what I know about SCN8A and why my fears are so strong made them feel more real for some reason. Also because I was less than a month postpartum so who knows what my hormones were doing to me. But really, I think that all this time I've had the thought in the back of my mind that "maybe I'm just being dramatic or focusing on the worst parts of this. Maybe this is super unlikely for Bennett. Maybe with good seizure control we'll be in the clear so it's not even worth worrying about." But hearing it all again from someone who has specifically been trying to get to the bottom of this and was able to tell me point blank that having a sodium channel mutation is not a good thing based on his numbers from the field validated that I have every right to be anxious about this and to try and do everything in my power to give Bennett the best chance at a longer life-span. 

When I asked him "So what do we do? Are there actual interventions that can help if we start to see irregularities in his heart? No one seems to know how to help." I expected him to basically say what I've heard others say. i.e. "Not really, we just kind of know that they're there and he can take supplements and hope they help" or whatever. I was very pleasantly surprised to hear him passionately describe his plan for us. I could tell he was serious about both helping Bennett and furthering the research for kids with mutations like ours. 

Not only did he want to get a baseline immediately by doing a 24 hour holter monitor starting that same day (another procedure I thought I'd have to fight to get done), but he told us about a device called a continuous loop recorder that I'd never heard of before. Apparently it's about the size of a USB drive and they implant it under the skin and it will record Bennett's heart activity 24/7 for up to 3 years until they need to replace it. 24/7 monitoring for 3 years!!! Without having to wear a holter monitor every day! I couldn't believe that was even a possibility--let alone that someone was actually willing to do it for us!

He wanted to be very clear with us that since the research in this area is so early and murky still that he had no idea if this would be the answer for us or not, but that it would at the very least give them better data to work with (hence the "helping kids in the future" comment). He told us that Bennett would literally be the first kid to ever have this procedure done because of epilepsy and the risk of SUDEP. Kids at risk for heart disease and serious arrhythmias will sometimes get the recorders implanted, but never an epileptic child just because of their epilepsy. Kids with seizures just don't get their hearts checked out very often because most neurologists are unaware of the connection to the heart at all. 

I asked what the risks were to the recorder and they were extremely minimal as the device is literally just beneath the skin--no further, and he said "I don't see why in the world we wouldn't do this. Don't you want to know the minute something changes with his heart? Rather than every 3 months or once a year with just a 24 hour or 10 second monitoring? What are the odds we'd actually see what was happening for him in just snippets of data like that? I for one don't want to miss something and then in a few weeks find out that it's too late." I didn't know how to argue with that logic (or even why I'd want to...) so I emphatically said "Let's do it! I'm all for closer monitoring! #anxiousparent". So he said he'd talk to his team and make sure everyone agreed with the treatment plan and then hopefully we could schedule the procedure soon--even if the holter monitor results come back normal, which we expect them to at this point. 

Oh, and in answer to my question about what we can do when we start to see the arrhythmias develop (This is how SCN8A works a lot of the time. Normal heart activity until one day it changes and progresses to arrhythmias, tachycardia, and bradycardia, etc.), he said we would try heart medicine first, but if that didn't work we move to a defibrillator implanted in his heart basically, and we'd be able to know if they were helping quickly because of the recorder. It was comforting to hear that someone believed there was actually something in our power to try and prevent SUDEP for Bennett and that they were willing to try it even though it's never been done before! Especially because both my dad and my sister have had ventricular tachycardia so Bennett is already at risk anyway for inheriting something like this.

***************

Needless to say, I'm thrilled with how the appointment went, and seriously SO grateful to his nurse for being proactive enough to switch us to his schedule even though we were already scheduled with someone else! I can't even believe there's a doctor in this valley who not only knows what SCN8A is, but is committed to helping our kids!! What a difference it made for me to walk in and actually feel like I could trust someone to take care of us without me having to pull out the articles for them to read first (I brought them, of course, just in case, haha). It just feels like a huge weight off my shoulders--I can't even explain it. 

On the other hand, in the days since the appointment I have asked the parents of the other SCN8A kids for more details about their experience with cardio doctors, heart issues, pulse oximeters, etc. and it has become clear to me that a good number of the SCN8A angels who have passed away young actually died from cardiac arrest--not really from their seizures alone. That means it wasn't necessarily SUDEP in a lot of cases like Dr. Tristani suspects. It was cardiac arrest, which is an immediate death sentence if CPR and a defibrillator aren't administered within the first 4-6 minutes. And even if those interventions are administered, there is still a very high probability that they will be unable to be resuscitated. 

This is obviously terrifying to me, but even more than that, I'm more frustrated than ever that we don't have a pulse oximeter at home. How in the world would we know if Bennett went into cardiac arrest if it happened during that night and he was face down, but silent because his heart stopped and he wasn't breathing?! The ONLY thing that would alert us would be something tracking his heart rate. And we'd need to be alerted immediately so we could administer CPR. The EMT's would take longer to get there than 4-6 minutes, so they would possibly be useless by the time they arrive. I can't believe our treatment team is still resistant to having a pulse ox at home in light of this information. It drives me crazy and feels reckless. 

So naturally, in addition to getting trained in pediatric CPR  and how to use a defibrillator ASAP (apparently lots of public places have defibrillators available? Who knew?), we are looking into options for a good pulse-ox for Bennett that we can just buy on our own, but because he is so young and basically the most restless sleeper in the world, the right options for him are over $1,000!! While money can't really be a consideration when it comes to potentially saving his life, of course, it's frustrating to me that these devices are so inaccessible to families when they literally could save our children's lives. Or at least they provide the best chance of that. It makes me even more grateful for all the foundations who have made it their mission to assist families with kids with special needs to help cover costs like this when our medical system leaves us high and dry. And grateful to generous donors who make it all possible. (i.e. Danny Did Foundation, Angel's Hands, Josh Provides, Chelsea Hutchison Foundation, etc.)

Rant: I really wish epilepsy had more awareness so there could be more funding (especially considering the fact that more kids die from epilepsy each year than women die from breast cancer...). It's unfortunate that all of these foundations and families are running on such low budgets which limits their ability to help, when so many other causes get so much publicity that they have excess amounts of money for research, treatment options, medicine developments, etc. It's not that I don't want other diseases to have help as well or that I think they're less important--I just wish epilepsy had more awareness or was more a more "popular" cause right now so we could increase our resources as well.