3/24/18: Day 5 of Zonegran 10 mg Wean

We dropped Bennett’s Zonegran again 5 days ago so he’s been on 10 mg once a day in the mornings instead of 20 mg. I would say this drop hasn’t gone quite as smoothly as the others, just because he has been a little fussier overall this week. I do think he’s experimenting with his language  more now though and his appetite has skyrocketed again. Honestly, the increas d appetite may be why he’s been fussier—I’m not used to feeding him so much so it took me a day or two to realize he was so hungry!  His sleep has continued to be great—sleeping through the night with no bottles. Able to settle himself right down for naps and bedtime, but his naps have definitely been shorter and not as consistent as usual (which is unfortunate for me, haha).

He and Olivia have settled into a pretty good routine at this point so it’s feeling like I can do this 2 under 2 thing, which is an improvement from where I was at last week emotionally by far. Bennett’s getting used to having Olivia around 24/7 and he’s getting a little more patient when I need to run her upstairs and leave him downstairs and things like that.

In a few days we are going to drop his Zonegran so he’s completely off of it. I’m expecting a breakthrough seizure once we’re off, just because almost none of the SCN8A kids have seizure control with a single medication at a time. But if we could stay on just the Trileptal that would be awesome!! It seems to have less side effects than the other drugs so far. The only negative we’ve noticed is it may be affecting his overall balance. But we aren’t even really sure about that.

We may hold off on the final drop of Zonegran just because he’ll be going in on Monday (3/26) to get his loop recorder placed for his heart and we don’t want to push his little body’s seizure threshold any more than we have to. No seizures is still the goal—even during weans!

3/23/18: First Physical Therapist Appointment!

Today we had our first appointment with James from Kids on the Move, the physical therapist assigned to Bennett's team. We wanted him to come evaluate Bennett to make sure there wasn't any physical abnormalities or issues getting in the way of his development as far as walking and balance go. He's been cruising along furniture by himself since he was about 11 or 12 months old, but we're now at 15 months and he still can't really take independent steps. He can take about 4-5 "falling steps", but he's struggling to stay standing on his own very long, get from a sit to a stand on his own, and take steps where he's in control long enough to actually get somewhere. We've been at this point for about a month now, and we expected to see more progress once he took those first independent "falling steps".

We really liked James, and Bennett took to him immediately. As far as evaluating him, he was really thorough watching him walk and crawl and bend down, etc. all over the kitchen and family room to get a good sense for his muscle tone and abilities. Overall, he said he didn't see any glaring physical abnormalities or issues--a little low muscle tone (which we already knew), some hyperflexibility (seems common with SCN8A kids), one of his feet turns outward when he takes steps, but other than that he didn't think there was anything physically wrong with him--he thinks he's just mostly afraid to walk on his own.

Bennett doesn't squat down like typical toddlers do to pick things up, or go from standing to sitting. He always puts his knees down and kneels first to go down and pull up to things. James showed us how to motivate him to squat down to reach for things instead of popping down immediately to his knees, he also showed us an exercise to work his squatting muscles which should help him with his core strength, and he introduced us to the doll stroller, which they call "Dumbo's Feather", haha.

It's just the frame of a little doll stroller and the point is to make Bennett feel like he's holding on to something while he's walking, but it actually doesn't provide any resistance at all, so he's walking on his own, he just doesn't realize it. He did incredibly well with it! His balance was WAY better than Dave and I thought it would be! He was able to walk about 10 foot stretches, it was amazing! Hopefully we can keep practicing and get his muscles a little more developed so he can start to feel more confident in his walking unassisted.

It was a great first visit, and hopefully we can keep this momentum going and help him develop his gross motor skills more quickly now!

3/15/18: All the Feelings

I don’t know any parent who feels like their job is easy. We’re all trying to do our best at something we have no idea how to do. We’re all trying to balance what keeps us fulfilled with meeting the needs of everyone around us. I think we all probably experience moments of doubt, insecurity, guilt, and overwhelmed ness (us that a word?).

Maybe it’s because I’m only 5 weeks post-partum, maybe it’s because I now have two kids, or because I’m exhausted, but being a parent to a child with special needs is starting to feel heavier than it has up to this point. The moment Olivia was born it was like everything hit me all at once. Everything I’d compartmentalized during the pregnancy. Bennett’s seizures (which started literally 1 week after finding out we were pregnant), his SCN8A diagnosis and the prognosis that comes with that, the horrific pregnancy, the fear that Bennett could pass away young and unexpectedly, the fear that Olivia will always feel like everything is about Bennett because medical emergencies are bound to happen and take precedence over important moments for her, the fear that after this awful pregnancy and resenting the fact that we now have two children 14 months apart, I may not be able to bond with her or love her as much as I love Bennett. I’m not sure how rational all of these feelings and thoughts were in the moment, but I basically had a panic attack and everyone needed to leave the room while I handed Olivia to Dave so I could breathe and calm down for a minute.

The weeks following this meltdown have been more of the same. All of a sudden I am feeling the fear of losing Bennett more poignantly than ever before, I’m struggling to bond with Olivia and I’m wracked with guilt about it. I’m worried about Bennett’s developmental progress more than before, And I’m itching to get back to my old life where I had the flexibility and freedom to see clients when I wanted to, write my dissertation when I wanted to, and overall just be successful in this PhD program I only have 1 year left in. I’m tired of being on sick leave, but I feel guilty wanting to leave my kids for hours at a time. I don’t know the best option for childcare and I don’t know if I want Olivia to be with someone else so young or if I can handle having her stay with me while I try to be productive.  I don’t even know if I want to continue along the same track with my dissertation or take it in a completely new direction at this point.

I’m so tired all the time, not to mention anxious, and I just don’t know how to do everything. While I feel better physically than I have in 9 months (Halle-freaking-lujah!), I’m conflicted now because I want to do all the things, but I’m still recovering from 9 months of my body being completely wrecked as well as an intense birth with a lot of pain during recovery. At least before I was so sick that I didn’t have to make any of these hard decisions about where to spend my time and how to prioritize my life or balance being a mom with being a therapist and student. I just needed to white-knuckle it and survive until Olivia was born, which meant there were no decisions to be made really.

I think overall I will probably get the hang of this work/life balance thing eventually, but for now it just really feels like I need a break. I need a break where I can sleep through the night, not worry about Bennett having a seizure or going into cardiac arrest, not freak out every time Olivia forgets to breathe and turns blue before she starts breathing again (which she always does, thankfully), not have to feel the guilt of wanting to leave my kids to get back to my PhD and the equal amount of guilt for not working on my PhD at all for the last solid year. I’m not sure how new moms do this, and I’m especially not sure how people balance their lives when they have a special needs child constantly throwing curve-balls at them, but I have a whole new respect for people who do it with (what looks like) grace. I’m hoping I can get to a good place quickly where I feel fulfilled professionally and as a mom to my kids, but until then, wish me luck navigating the waters through this tough transition in my life. And thanks for the support from everyone. It is so appreciated even if I’ve been too overwhelmed to respond to you.

3/14/18: Day 5 of 20mg Zonegran

Weaning Zonegran is feeling like a very good decision right about now. Bennett has slept through the night as well as sleeping in and taking long naps throughout the day for about a week now, which feels like nothing short of a miracle. His appetite is doing well too! He’s still picky about which foods he’ll eat, but he’s at least getting calories (even if it is from yogurt, pouches, and crackers. Oh and we can’t forget scrambled eggs. That kid would eat those every single day no problem, he loves them)!

While I’m still anxious about seizure control, so far Bennett seems much more alert, overall significantly happier and independent during the days, more communicative with us, and just overall more engaged in life.

We had a kids on the move evaluation this week and they were surprised at the regression in his language and the fact that he is still not walking at 15 months after being so close a month ago. He now has a bigger delay emotionally and verbally than he did before, and his gross motor is falling behind as well, but his fine motor skills continue to be on par if not ahead of his age group.

I asked if we could get a speech language pathologist and physical therapist out here sooner rather than later just because SO many of the SCN8A kids are completely nonverbal and I want to give Bennett the best chance possible. She said usually they dont really come out until 18+ months, but in the case of a genetic disorder that most likely won’t get better on its own they may be willing to come a little sooner. So we shall see!

3/11/18: Day 7 of the Zonegran Wean

Well, as gun shy as we've been about starting another wean, I've been getting more and more worried about Bennett's development so we decided to start weaning the Zonegran a week ago today. We dropped his dose by a full 25%. He was on 40mg 1x/day and we went down to 30mg 1x/day. It's a pretty fast wean compared to how slow some families take it, but he did so well with the Phenobarbital wean we felt okay trying it out.

As far as the effects we've seen--it wasn't nearly as immediate as the Phenobarbital (those effects seriously showed up in 1 day every time), but after a few days his appetite (for table food!) has continued to increase, I would say he's overall happier during the day (so much so that we've been not giving him CBD because his mood has been so good), and his sleeping has gotten even better! He's slept through the night I think 4 nights in a row now? Like, we haven't had to go in AT ALL--let alone give him any bottles other than right before bed and right when he wakes up. He's also sleeping longer and playing alone in his crib better. We usually put him down around 6:30 pm, he falls asleep around 7:00 pm, we don't hear from him until 5:00 am or 6:00 am when he gets a small bottle, and then he sleeps until anywhere from 7:30-8:30 am. It's a very manageable sleep routine (for the first time ever basically...), especially with having to wake up every 3 hours now with Olivia.



So today we dropped another 25% of his original dose, leaving us at 20mg 1x/day. I'm really nervous about breakthrough seizures because we're taking away half of his seizure control basically, but we need to get off of it so it can stop inhibiting his development. We're not even sure if it is inhibiting his development, but I definitely think it's affecting his sleep and appetite. That alone is reason enough to get off of it for me.

Overall, just like with the Phenobarbital, we've seen him continue to progress with his language better--he's back to saying things like "mamama" using consonants where he was only saying "aaaaah" for about a month there. And I think he's a little less zombie-like during the days already. Hopefully it just continues to get better from here!

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. 

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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.

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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.