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?

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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! 

9/20/18: General Bennett Update

Bennett's been doing pretty well the last few weeks since his last seizure.

Physical Development--He's pretty stable on his feet nowadays! He struggles on terrain like grass, woodchips, hills, etc. but he can manage it, it just takes a lot longer than most other kids who are 21 months old. He even kind of started running this week chasing us and letting us chase him! His giggle when he gets into a chase is just the best sound :). He still can't get the hang of staying upright when he tries to go down a slide, but we keep working on that core strength so hopefully that comes soon.

He learned how to swing in a big kid swing this week by himself! (With very close supervision, obviously, haha) That was a really really cool milestone to hit!!

Cognitive Development--His expressive language (what he can say) hasn't changed much in a few months. He still has some consistent signs and can verbalize a few sounds ("Daaaa"-mom and dad, "up!"-up, "baaaa"-bath, "uhlalala"-water and Olivia, "caaaaa"-car), but hasn't really picked up any new verbal words or sounds. He is trying to mimic our sounds all of a sudden, which is super fun. If we say "Can you say _____?" he'll actually try. His sounds aren't usually even close to ours, but he's pretty convinced he sounds exactly like us, haha! Maybe it's the beginning of getting a wider sound vocabulary and even some words? Hopefully! It would be nice to have other people be able to understand what he's asking for sometimes.

His sign language is about the same, but he has picked up a few new signs lately (macaroni, but I can't think of any others right now, haha). And he's just gotten very consistent with the ones he knows. He doesn't really use them spontaneously anymore to ask for what he needs. Very rarely he'll sign "help" if he can't reach or open something, but for the most part we have to prompt "do you want this? do you need help? Are you hungry?" At least he's able to confirm what he wants when we guess right though, haha, we'll take it!

So overall, his expressive language is soooort of improving? A tiny bit.

His receptive language has improved a lot though! He understands what we're saying now the majority of the time, which means he can actually respond to things we ask him to do. He'll actually bring us something now if we say "Bring it to me, I can help you!", which is a HUGE improvement. So even though he can't exactly communicate to us what he needs, at least he's able to understand more of what we're trying to communicate to him. We're thrilled with that!

Feeding Development--He still can't really chew with his back teeth, which means he swallows everything he eats whole, or he just spits it out. His diet has to mostly consist of pureed vegetables and fruits, yogurt, Gogurt (still his favorite), bread, Eggos, and other things that will dissolve in his mouth. I do think he's slowly getting the hang of chewing using his back teeth though. We've been working on just manually opening and closing his jaw to get him to understand what it feels like and yesterday he had 4 BITES of ground beef in his chili (he looooves chili, haha) which he actually CHEWED and SWALLOWED!! He was chewing the beans pretty well too! So maybe we're making some good progress there. It just feels like a glacial pace to me, haha. Luckily Olivia is also delayed so she's not in a high chair yet, or we'd have two babies in high chairs both basically eating the same foods!

Sensory Development--He still seems to need a TON of vestibular input on the day if we want him to be content and able to focus on anything inside for any extended period of time. Vestibular input is basically big movement, so for him that's mostly swinging or being thrown up and down, riding in a stroller for a while, being swung in a blanket between Dave and I, etc. And then baths always seem to provide a lot of the tactile input he needs as well. He's still sleeping perfectly though, so he doesn't seem to need deep pressure or anything to really settle down at night. He just needs about an hour and a half of reading in his crib quietly before he's ready to fall asleep, but we're not complaining :).

So overall, he's not exactly making strides in his development, but we're really proud of how hard he keeps working at his language and physical development even though it seems to be really difficult for him. It's definitely fun to be able to take him to the park and actually see him play with some things instead of just crawl around. Some of his favorite things right now are reading books, drawing on paper (and the walls, chairs, furniture, etc.), watching Daniel Tiger, exploring all of the drawers and cabinets, taking things in and out and in and out and in and out, haha, and playing with Olivia and seeing her giggle at him!

9/6/2018: The Seizure That Ended the 6-Month Streak.

The last post I wrote over a month ago was about Bennett starting to walk independently, which felt like a miracle!! I'm happy to report that his walking has only gotten more stable as time has gone on, which is even more of a miracle considering he had a seizure just 3 days after my last post. We were 1 week (to the day) shy of 6 months seizure free and I was really looking forward to celebrating that milestone, so this seizure was more difficult than most of the other ones for me. I felt gutted.

July 27, 2018. Bennett and I were lying in bed and he was watching Daniel Tiger (of course) on my phone while I was trying to catch a little more sleep before fully starting the day, when all of a sudden I heard choking noises and looked down to find him in a full-blown seizure--bloody drool dripping from his mouth onto my comforter. It lasted for a total of about 18 minutes start to finish, with a cluster of 4 generalized tonic-clonic seizures in there. I gave him the first dose of the emergency med (the one we had at home) right after the second seizure, but they didn't stop until the EMT's got there and gave him another dose. So in total I gave him 1.8 mg of nasal Versed, which didn't stop them, and about 10 minutes later the EMT's gave him another 1.5 mg, after which the seizures stopped within 30 seconds. He responded to the Versed great again--no respiratory issues and woke up fussy, but not having regressed at all.

He had been sick that week with a pretty nasty cold so I had actually been telling Dave earlier that I was worried he was going to have a seizure since this was pretty much the exact circumstances before his last one. He had just taken his first few independent steps, he had a cold (rhinovirus), and then he had a seizure after hitting his head. This time he had just started walking independently confidently, he had a cold (also the rhinovirus, as it turns out), and then had a seizure, but with no identifiable trigger.

I think this seizure was harder for me because I've had 6 more months of being engaged in the SCN8A community and coming to grips with the fact that sometimes seizures send our kids to the hospital for days or weeks at a time. Sometimes seizures cause sudden death. Sometimes seizures cause a complete loss of developmental skills. Sometimes seizures cause pneumonia. Sometimes the seizures can't be stopped without an induced coma. You get the picture. There's a lot more fear surrounding seizures now that I've watched 2 more of our young SCN8A kids pass away. And I was alone this time. I texted Dave and our nanny, Nicole, and they both headed over even though it was 8am in the morning (bless her!). Nicole got there first right after the paramedics arrived so she could help with Olivia, and since they let us transport Bennett to the hospital ourselves (quite a fight to refuse the ambulance...), Dave took him and I stayed for a few minutes to grab some things for the hospital before Nicole drove me over. (Our other car was in the shop that day, of course, which meant Dave was on Frontrunner when he got my text and had to Uber down back home.)

Thankfully, once Bennett had gotten some sleep and we were out of the hospital back home (couldn't get an IV in his veins after 4 attempts, including his head), he was acting like he hadn't even had a seizure! He was still walking, babbling, signing, etc. To say we were relieved is a massive understatement. I sort of live in constant fear that one day he'll have a seizure and wake up not knowing who we are or how to communicate with us. It's happened to some of the other kids and it terrifies me.

7/24/18: Look Who's WALKING!!!!

Bennett has had a great stretch the last month or so. We are STILL (cross your fingers) seizure free, which brings us to 5 months and 3 weeks today!! I almost can't believe it. As much as I can't believe he started walking 3 days ago!!!!!!! I didn't even share any videos of it until the second day because I was scared it would disappear and then I'd have to tell everyone that he lost it as quickly as it came. But here we are, and we have a little walker! He seems happier and more independent. And they weren't kidding about the walking/talking/eating connections. It was like a switch flipped 3 days ago because all of a sudden he's imitating words. Like real WORDS. Not just sounds. He's trying to say what we say to him. It's kind of incredible. And he's started to chew his food with his back teeth!

All of these things sound so small and insignificant when you compare them to the typical milestones of a toddler his age (19 months). But for Bennett, who's been stagnant at around a 10 month developmental level in all of these areas for 11 months, these are HUGE. And it's incredible to watch them all happen together so spontaneously. I wish I could connect the dots with what led to the changes, or what finally clicked for him, but honestly nothing has changed in the last few months, so we have no idea. Other than the fact that we just spent a week in Island Park, ID with my family, which meant lots of walking and talking cousins his age around him. That may have provided motivation for him to try some new things. And then of course the walker my parents made him has given him the confidence to try to walk everywhere he goes. I think that obviously made a huge difference for him and we're so grateful my mom pushed so hard to do that for us.

What's especially interesting is that just last week we met with James (PT) and after taking a video and slowing it down, he was able to isolate the fact that Bennett's left leg drags along and almost limps when he tries to walk. He was discussing cerebral palsy with us because he said that's how Bennett was presenting, even though it would be very rare to have CP develop non-congenitally. Except that a lot of the SCN8A kids have cerebral palsy, or at least CP-like features. So it wouldn't be unheard of. He was a little confused because Bennett didn't present exactly like anything he'd seen before, but he emphasized that it looked neurological to him since it wasn't totally consistent 100% of the time and his muscles don't seem to have any issues.

You can see that left leg dragging here.

When he walks independently now we still see some unevenness, but his leg looks WAY better than it did last week, which makes no sense! If it's neurologically based (which I agree with), it's confusing that all of a sudden he seems to be doing better. We'll just keep watching it and meet with a peds orthopedic surgeon soon to see what they think we should do about it. (Not surgery, obviously, but just who to work with to make sure we're using that leg and helping that foot and hip develop as best as we can).

Medications are the same at this point. 2 mL of Oxcarbazepine (Trileptal) 300 mg/mL 2x a day and CBD oil (5 drops) once a day in the afternoon. We don't want to mess with the cocktail since he seems to be doing great with seizure control and even development as of 3 days ago! Hopefully he keeps this up and we just keep seeing him learn more! We're so happy! We wish we could just be carefree and grateful he's walking, but it's always in the back of our mind that any seizure or med-change could take all of this away, which is so sad to us, but we're trying to just stay present in the moment and celebrate this HUGE victory!! Go Bennett, go!!!

Here he is in all his glory!!

6/15/18: 4 Months Seizure Free!

We've gone exactly 4 months and 11 days since Bennett's last seizure and I'm so grateful, but also feeling like another one is inevitable at this point. Once we hit the 3 month mark (last time's record), I started to feel anxious again about when the next one would come. But so far being on the Trileptal alone seems to be giving us solid seizure control!

As far as his development, Bennett's walking hasn't changed much in the sense that he still struggles to make it past just a few independent steps at a time. But we got a walker from our physical therapist last week, and then my parents made him a smaller PVC walker and ever since we got that, Bennett has just taken off. He still can't walk on his own, but he LOVES running around with the walker. The first two days he was literally running laps up and down the street, haha. It was pretty emotional to see him feel that sense of independence for the first time. I just wish he could walk and run on his own--not just for him, but because then I might stop wondering "Will he ever walk?". Since a lot of the SCN8A kids don't walk, it feels like a very real and scary possibility that Bennett might not either. That wouldn't be the end of the world, but it's just hard to not know.

His speech has stalled as well, if not regressed again. He doesn't mimic sounds or words, but he can sign pretty regularly and effectively.  He's actually started signing chains of words like "want" "food", then point to what he wants. It's amazing to be able to communicate with him, but it also means he's acting much more like a typical toddler when he doesn't get to do what he wants. It's like before he didn't get frustrated because he knew we didn't know what he even wanted. But now he knows we're actually saying "no", haha. So that's fun...

5/19/18: Signing Time!

The last post about Bennett talked about how awful the week had been with him (screaming for hours on end with nothing to help), but I wanted to update that because he has actually had a really really good few weeks since then. He is in such a cute stage. He wants to cuddle with anyone and everyone, but especially Olivia. He’s LOVING soft blankets (never showed an attachment to blankets before). He is smiley smiley if you work for it. His “cheeeese” is so cute I can’t even handle it. As far as his walking and talking go, he’s still in the same place if not a little bit regressed in the walking department. He can stand forever if he’s distracted, but he’s back to mostly taking a few falling steps or just crawling where he wants to go. It seems like a motivation issue more than anything, but who knows?

His talking seems to depend on the day. I can NOT figure out why some days he’s babbling and imitating up a storm and other days I can barely get an “aaahh” out of him. But on those great days he seems to be really trying to imitate! He’s just pretty bad at it, haha. He can do percussive sounds better than vowels and consonants combined. And he has pretty good pitch-matching abilities when he sings along to music. He’s also signing a few things consistently and seems to LOVE that he can communicate with us! We love it too. Right now he signs “more”, “open”, “food”, “milk”, want, “help”, “swing”, and “all done”. Most of those are really touch and go, and no one else would ever know what he’s doing with his hands, but we know what he’s doing and he has a few really consistent ones! Right now “swing” and “more” are the most consistent. Oh, and “open”, and “help”.

He's been on the same dose of Trileptal now for 3 months and 2 weeks and has been seizure free since we started it (longest streak yet!). We're hoping this isn't just a honeymoon period and we continue to see seizure control as well as developmental gains with no serious regressions. The side effects seem to be minimal and we love having a content, happy, stable Bennett!! It makes life about a million times easier than when we never know what mood we're going to wake up to.

We're grateful for the relatively good stretch we've had lately with him, we just wish we would see more progress mentally, emotionally, socially, and physically. He's way more emotionally attached to us than he's ever been, which is fantastic, but it's still hard to watch other kids his age and see how far behind he is without knowing if he'll ever catch up (or even move past this stage). Hopefully he continues to surprise us, though, and just keeps improving! We are loving our team with Early Intervention here in Utah. They've really helped us with communicating with him and getting him to engage more with us! It's such a blessing!

5/15/18: Hyperemesis Gravidarium Awareness Day

Olivia Jane Rackham. Born 2/8/18. <3

I know that this is supposed to be Bennett's SCN8A blog, but my therapist says I need to write about Olivia's pregnancy to help me process it, and today is Hyperemesis Gravidarium Awareness Day so my Facebook feed has been flooded with HG mamas doing their best to educate the world and be a little vulnerable in the hope that others like me will get more help in the future.

HG is basically morning sickness on steroids. But that doesn't even do it justice. It's more like morning sickness on steroids, on steroids, on steroids. You basically throw up from the moment you get pregnant to whenever your medical team is able to find you a management system that keeps it to a minimum, which for some women isn't until after delivery--sometimes days, sometimes months later. I was one of the "lucky ones" who found a miracle cocktail after a feeding tube helped get me semi-stable after hitting the lowest of the lows around 5 months with Olivia.

I was losing weight. I couldn't keep water down. I swear if one more person suggested I eat crackers or try ginger I was going to lose my mind and seriously injure someone. I couldn't take care of Bennett. I had to have someone take him every day for me for 2 months. I couldn't get out of bed most days. The stairs were an impossibility, which meant that some days I didn't leave the bedroom at all. I showered maybe once or twice a week. I was making twice-weekly trips to the hospital for IV injections of fluids just to stay alive essentially. I was on about 5 different medications trying to help with the endless vomiting. Not to mention the relentless nausea, which never really subsided, and still remains once in a while today. You get the idea.

Actually, no, you don't. You literally can't, unless you have experienced it yourself. My sister called me at some point to ask me what I "do" all day? I responded, ".....I literally stare. at. the. wall." Reading made me sick. Watching a show made me sick. Holding my phone made me sick. Sitting up made me sick. Listening to books made me sick. Bennett's cries made me sick. People told me to "get out, find distractions, go for a walk." That was laughable. I kept emesis bags in every single purse, car, room, drawer, etc. because if I ever had to go anywhere, it was an inevitability that I would need to vomit at some point.

I got to a point where I would eat what I was craving anyway just because I desperately wanted food to taste good, but no matter what I ate, it came back up. Nearly every time. I can't even count the number of times I called my younger sister from the kitchen sink throwing up begging her to come watch Bennett for me that day. It wasn't until after a month of this that I accepted the situation and set up full time child care for him.

I am still dealing with the effects of HG. 3 months later. I have a beautiful baby girl, and I love her and I'm grateful, but I struggled (and still struggle) to bond with her because of how traumatic the pregnancy was for me. I have so much guilt over how disengaged I had to be with Bennett during a time when he needed his mom. He was having seizures daily for over a month, and I was in the hospital with him throwing up in between holding his hand and explaining to the doctors what was happening with him. I missed his developmental delays because he was at other people's houses during the days. He was on Keppra longer than he should have been because I didn't have the energy to take him into the office to get him seen again by our then-neurologist. I could barely make it through phone calls with his doctors without crying because I was just so ridiculously exhausted and famished. No one understood. No one was willing to make allowances. We had to come in to the offices, and it was impossible for me. 

I have incredible guilt and shame over the fact that I was in so low of a place 2 months in that I wanted the pregnancy to end. I wanted it to be over. I honestly didn't think I would survive. I have guilt over the fact that Dave had to go in to work late and be home early every single day. And once he was home he was a full-time single dad to his son and caretaker to his completely dependent wife. And Bennett was NOT easy. He never slept through the night, and Dave took every single feeding. We both reached breaking points we didn't even know we had.

I have guilt over the fact that I never ever ever ever want to be pregnant again. I wish I felt like our family was complete and we were done, because I want to ensure that this never happens to me again. It literally does not feel worth it to me--which feels like the most terrible thing a mother could say. Of course having Olivia makes it all worth it logically, I just need more time to get there emotionally. And I don't think any amount of time is going to make me brave enough to want to be pregnant again.

Literally the moment Olivia was born, I had a full-blown panic attack. In the hospital room, before they had even stitched me up or put her on my chest for skin-to-skin. The tears just started flooding and I could barely breathe. Dave had to take Olivia for skin to skin because I couldn't handle her on me. I was having flashbacks of Bennett's first seizure, being stuck in my room, feeling trapped, living over the toilet for so many months, the fatigue, the resentment, the fear, the guilt. It was like everything hit me all at once and it was just too much.

Since that moment, I feel like all of those emotions have just been spread out through my post-partum period. I have suffered from severe depression and anxiety like I've never experienced before. The tiniest things are enough to completely paralyze me. I am overwhelmed by the prospect of every single day I have to be alone with the kids. I thought once I wasn't pregnant anymore I would be back to normal and feel like myself again, but that just hasn't been the case. Don't get me wrong, I feel about a million times better physically than I did during those 9 months, but I'm still reeling emotionally from the last year. I had to get in to therapy soon after the birth because I knew I was suffering from PTSD. I was waking with nightmares, having intrusive images and thoughts, having panic attacks (which I've never had before).

While a lot of these symptoms have gotten better, I'm still walking around not knowing when the next breakdown will be. I still go into a complete panic every time I feel even the tiniest bit of nausea. They tell me the more traumatic your pregnancy, the more likely you are to struggle with postpartum depression, so I guess I should have expected this. But I didn't. People talked about the emotional effects of HG lasting up to a year or more after their pregnancy, but I thought I was handling it all pretty well emotionally and would be able to bounce back quickly. I haven't. I struggle every single day to have enough energy to show up for my kids mentally and emotionally. I've become all too reliant on Daniel Tiger to entertain Bennett. I have so much guilt about the way I'm not bonding with Olivia like I want to. I have so much guilt about so many things, it's honestly overwhelming to even think about.

Maybe this is all TMI and too personal to share publicly on the internet, and I apologize if it is, but I feel compelled to share the reality of the devastation HG causes on not only the mom and baby, but on the partners and kids and families as well. Dave and I's moms had to come for weeks at a time just to help us function when it got to be too much for us.

The only way we got through this hell that was my pregnancy was because of the support of our parents, our neighbors, our ward, and friends who continually reached out to me and offered emotional support. There were plenty of people who dropped out of our lives or said stupid things that made me want to punch them in the face because they added to my guilt, but luckily, we had enough support that we were able to push through the pregnancy without feeling completely destroyed by the end.

I'm sharing this because the next time someone tells you they're dealing with severe morning sickness or Hyperemesis Gravidarium, please pleeeeease do NOT tell them about the time you threw up for a few months during your first trimester, please don't try to normalize their experience by telling them "pregnancy is tough", please don't offer suggestions like crackers or ginger--trust me, they've tried them, please don't ask if they've tried Zofran or Unisom--they have, please please do everything in your power to help support them and relieve their guilt rather than add to it. I can't even tell you how low I got when someone said something to me about how absent I was with Bennett and how he needed his mom and was probably struggling because I wasn't taking care of him like I should have been. I can't tell you how frustrating it was for people to talk to me about how much they hated throwing up like 10 TIMES during their pregnancy. It was so invalidating and made me feel completely alone in a time when I needed nothing more than to feel like I wasn't invisible. Like people could see me. See my struggle. Like I hadn't been forgotten, even though I was stuck up in my room unable to interact with anyone for months.

It's not really fair to expect that people will support you in exactly the way you need all the time, and I honestly don't want to minimize how difficult pregnancy is on most people even without Hyperemesis--I just hope for a little more understanding, a little more educating ourselves on this awful condition, and a little more support all around. If I can help even one mom in the future who suffers from this, then it would be worth it. Thanks for reading this if you got to this point--it means the world to not only me, but HG warriors everywhere. <3

5/2/18: Progress Update and CBD

This past month has been ROUGH with Bennett. PartiLly I’m sure because Olivia is here and he’s realizing for the first time that my attention is split and she’s not going away. But partially we think it’s also teething, not feeling great, medication adjustments (?), and who knows what else.

We got so desperate we actually put him back on the Zonegran for about a week, but didn’t notice a change really so we took him off of it again. His appetite has gone down this month (back to mostly just eating pouches and yogurt, not doing great on solid table food), his sleep has been alright, but he’s just sleeping less overall, hisbwalking hasn’t changed, and he’s picked up a few signs, but gets them confused a lot.

We decided to put him back on the CBD a few weeks ago and started to see more progress for a bit in his language and movement, and I still think we’re seeinf the benefits (won’t be going off again anytime soon), but it sort of plateaued.

There was a stretch of days last week where Bennett literally screamed (and I mean scream) for about 4-6 hours per day. It was very...trying. Apparently these kids sometimes just feel pain at a ridiculously intense level—to the point where some doctors hve given the parents morphing to get their kids through those bad days. Even though they don’t know what causes the screaming necessarily.

One day it just sort of stopped so we have no idea what happened. My guess is it was probably mostly teething or something, but things have been more stable since then. Still not awesome though. He’s just overall pretty fussy. Luckily seizure control has stayed good on just 2 mL of Trileptal 2x/day!

Day 7 of 0mg of Zonegran!!

it has been exactly 1 week since we dropped our last dose and went to 0 mg of Zonegran. We decided to finish the wean starting the day after his loop recorder surgery. As far as effects we’ve noticed: appetite is ever increased, language and gross motor skill development/motivation seems to be continually regressing, and sleep has continued to be excellent—down around 6:30, bottle st 6:30am, back down until around 8 or 9. It’s a dream. He does seem more fussy and clingy during the day right now and we’re attributinf it to the end of the wean, but we’ll see if it levels out here soon or not.

It’s hard to know what’s a direct effect from the wean vs just coincidental timing. But it seems that the increased appetite and zero effect on sleep has been consistent with each drop. His mood and development are trickier.

Overall lately it’s been difficult to watch him lose motivation to work on his walking and communication. For a while there he was really really eager to try to stand and take steps back and forth or around the kitchen. He would flash a huge “cheese” any time he was proud of his success. It was really fun to watch him be excited to progress. Now it seems like he dreads walking, he feels like we’re forcing him, and he isn’t very successful much of the time.

His communication is similar right now. For a while there he was trying hard to mimic words and connect them to meanings. He actually said “grandma!” Multiple times intentionally to indicate his grandmas. But now we just hear this high pitched whine that’s pretty universal and keeps him from really trying to specifically communicate what he wants with us. Our Kids on the move therapist worked with me this week on how to not anticipate his needs, and actually create scenarios where he has to reach out for help or protest verbally so that then I can help him remember I’m there and I can help if he asks me. He sometimes seems to understand what’s happening, but mostly just seems to get frustrated that I keep delaying giving him what he wants, haha.

It’s been difficult on Dave and I lately. It’s hard not to watch a regression and wonder if this is the beginning of the end of his development. That just seems like such a common trajectory for our SCN8A kids. We feel like we’re being faced with the reality of the very real possibility that he may never walk or communicate verbally with us. It’s pretty overwhelming and scary for us, and it gets hard during the days when we’re trying to get him to communicate with us and we can just see that his brain can’t connect what we want him to do or why. It’s discouraging and repetitive without much positive feedback to keep us going.

We’ll see if as he levels out of the Zonegran wean we see some progress in his development. I’ll keep you posted!

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. 

2/24/18: Starting Trileptal, New Baby Sister, and a Helmet!

Lots has happened here in the past 3 weeks. Just 4 days after Bennett's last seizure, baby Olivia decided to come! I went into spontaneous labor with her and she was born 36 weeks to the day. I mostly labored at home because I didn't really think I was in labor (I've been contracting like this for months), but when it had been about 4.5 hours and the contractions weren't stopping I told Dave there was a sliiiiight possibility I might actually be in labor and we headed to the hospital around 11 pm on February 7th.

Thankfully, Dave's mom was here so we could just peace out and know that Bennett was fine and she had everything under control in case we ended up actually having the baby. It took about 3 hours for the triage nurse to be convinced I was legitimately in labor, but we were eventually admitted and my midwife was called around 2am I think. After a short and not very intense labor (until the very very end) Olivia was born around 5am on February 8th! She came out screaming and didn't need any assistance after the birth. She also stayed out of the NICU miraculously, which meant we were able to come home within 36 hours of delivery!

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Just a few days before Olivia's birth, Dave went to see Dr. Morita with Bennett to ask her to write us a prescription for Trileptal (Oxcarbazepine). I tried to ask her to just send it in since I was on bedrest and couldn't really do the appointment and we had already talked about how this would be the next step if we had another seizure, but she made him come in anyway. So we started the generic of Trileptal on Tuesday, February 6th I think?

As far as side effects go--I would say his appetite definitely started to increase after about 2 weeks of being on it. He's finally eating some table food and not just taking bottles! He did seem just exhausted in the beginning. Like too tired to function, but then he'd have insomnia basically and not be able to sleep. But I think that leveled out around a week and a half after starting it (so hard to remember because it was all right after Olivia was born). I haven't noticed any effects developmentally except that he actually did start to take some independent steps about a week after we started it. And he kind of seems like he's babbling more right now (3 weeks in)?

We wanted to start the Trileptal and get off the Zonisamide because I'm worried the Z is holding him back developmentally, but we've been too gun shy to start another wean and risk losing seizure control yet. Especially with the new baby and still trying to adjust to life with 2 under 2.

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In other news around here, Bennett loves his little sister. He doesn't really understand "touch soft", but we're trying to help him understand that he can't hit her in the face. He's very interested in her and likes to be around her when we have her downstairs with all of us. He's a little confused about why her bottles aren't his for the taking, but he's getting used to it. 

He's been walking more and more each day starting about 2 weeks ago when he took his first steps! With this development we decided we needed some head protection from him in case the next bonk on the head triggers a seizure. We found a relatively cute soft helmet on Amazon and he kind of hates it, but has been pretty good about keeping it on for the most part. And it has definitely saved his head a few times already. Who knows if hitting his head would cause a seizure, but for right now, we don't really care to find out. Better safe than sorry.

This week he ate chili, lots of pudding, yogurt, took some bites by himself of a graham cracker, and devoured some of those baby food pouches, plus lots of other mini-successes I'm forgetting right now. This is all pretty huge as he's been struggling a TON with eating real food--even baby food purees for about a month now. My mom has been in town helping for the last 2 weeks and she has basically made it her mission to get him eating table food and doing less formula through the night and day. 

At this point, he has slept about 4-5 nights in a row with NO BOTTLES. This is pretty incredible, because I can't remember the last time we didn't give him a bottle through the night. Actually, I don't think we ever have. He's almost been sleeping through the night no fussing too--but either way, he's self-soothing if he does wake up. She hasn't had to go in very often because he can get himself back down to sleep when he wakes up. I can't even explain how life-changing this is. Of course, we also have a 3-week old baby now to keep us up. But still, 1 baby rather than 2 waking up through the night is HUGE. 

My mom has been taking both of the kids through the night since she got here so Dave and I have had uninterrupted sleep for the first time in a looooooong time, and we are so sad she's about to leave, but so grateful she's been able to help us get Bennett in such a good place. I also think he's leveled out on the Trileptal and that has helped things, but her efforts have for sure been a part of it! 

Hopefully we all survive when she's gone in 3 days....

2/4/18: First Seizure After 3 Months and 5 Days--Restarting the Clock.

Well, this is a hard post to write. Particularly because the last one was so great to write. Yesterday we were 3 months and 5 days seizure free. Today we are back to 0. That's a mental trip. And it's hard. The main thing helping us today is that the Bennett we had this morning pre-seizure seems like the same Bennett who woke up post-seizure, which is not always the case with SCN8A kids' seizures. Our particular epilepsy syndrome is known for unexpected severe seizures causing major regressions in development (some so damaging that kids have woken up and lost years (YEARS) of milestones and are back at infant-level capacities...we're talking can't even hold their own head up anymore).

I was still upstairs when this one started this morning, but Dave had Bennett in his arms when he started seizing and had 911 on the phone within about 15 seconds. Dave's mom has been here helping me be on a modified bedrest (so I don't go into labor too early--35 weeks now!), so she came and got me and I made it downstairs in time to see his second cluster begin, and then a few minutes later, his third. We've never seen 3 back to back. And we've only ever seen him cluster twice before.

I was grateful we had 911 on their way, and they actually made it to our house in 8 minutes, even though I could've sworn it was at LEAST 15....because I felt much less anxious about the times he stopped breathing and turned blue knowing oxygen was on its way. I still don't understand why we aren't allowed to have an emergency med, oxygen, and a pulse-ox at home to be able to administer all of the things the EMT's do in this situation, but that's a different battle for a different day I guess. When they got there I asked them to immediately administer the emergency med they had (per our seizure protocol Dr. Morita has prescribed). They told me they had Versed, and I asked them to give it to him right away nasally. They were clearly taken aback and a little confused that I was so bossy (I can't think of a better word to describe it other than bossy, haha), but they hopped on monitoring his oxygen and getting the emergency med ready quickly, which we were grateful for.

As soon as they got the Versed in him (3 mg), he seemed to rouse from the seizure stupor, and then fall back to sleep. I think it stopped the seizure activity right away, but it's always hard to be totally sure. They kept him on oxygen basically from the time they walked in the door to the time they walked into the hospital out of the ambulance, so his oxygen level seemed to remain stable even after administration of the Versed, which was the big concern since it was our first time using it with Bennett (sometimes it's so strong that it shuts down kids' breathing). And it's really good to know now that at least today, nasal Versed was effective for stopping his seizing.

Dave rode with him in the ambulance and stayed with him at the hospital (no small feat post-seizure) as they ran bloodwork to check for therapeutic levels of Zonegran in his system, run a viral panel for his cold/flu (negative for flu, positive for rhinovirus--so...a common cold), get a CT scan to make sure his head was okay, and overall make sure he was stable. Everything looked clear (like it always does), so they were able to come back home within a few hours, thankfully. We just need to follow up with Morita tomorrow, obviously.

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So this seizure was brought on by a few factors, we think. 1) He's had a cold/sinus infection type of thing for the past few days. I'm pretty sure this lowered his seizure threshold because his immune system was not at its best. I've actually been worried the last 2 days that we might see a seizure knowing how sick he's been. Lots of SCN8A kids (and most epilepsy kids in general, I think?) lose seizure control when cold/flu season hits because it just takes such a toll on their bodies. 2) He tipped over on the hard floor and bonked his head just 15 seconds before the seizure onset, so we're pretty positive it was directly correlated to this (which we have seen with him before, but never been sure if it really was a trigger for him or not). 3) He's off the Phenobarbital, so there's no saying whether or not he would've had enough coverage this morning with it to avoid the seizure, but most of the SCN8A kids can't use monotherapy (one drug at a time) to maintain satisfactory seizure control. Almost all are on at least 2, if not more, drugs at once to gain even just semi-good control. We were hopeful that we may be able to keep him on just the Zonisamide for a little bit to see if maybe he would be okay on just one for now, but...it's looking like that's not the best plan anymore.

Our next steps are to talk with Dr. Morita tomorrow since today is Sunday and it's the weekend. I think we're ready to put him on the Trileptal (supposed to work great for most SCN8A kids with minimal side effects!), get to a therapeutic level, and if we have good control, titrate slowly down from the Zonisamide. It's a bummer to have to do this right now when we are literally one high blood pressure away from being induced with this little girl, but obviously we want to make sure he has better seizure coverage from here on out. The goal is always zero seizures, so we don't wait around for more to happen before we make changes--which is one of the things I love about Dr. Morita. She isn't casual about breakthrough seizures like so many other neuros seem to be. She wants him to be seizure-free as much as we do.

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Overall, Dave and I are feeling pretty bummed, but not surprised, that he had another seizure after doing so well for so long. Dave's mom asked me yesterday "How do you not just live in constant anxiety about when the next one is going to hit??", and I told her that it gets monumentally easier the longer he goes without them. I'd say a few weeks to a month is what it takes for Dave and I to stop freaking out about every little jerk, eye movement, bonk on the head, etc., but the moment the next seizure hits, we restart our clock. I think it actually helps that this time there seemed to be a clear trigger (the head bonk), as opposed to before when they were happening all the time spontaneously with no rhyme or reason. But now of course, I'm hypervigilant about him even tapping his head against anything, which is stressful, and possibly not even necessary, but it doesn't feel worth the risk with what's at stake for him. 

I wish we had maintained seizure-free status through the birth of this baby girl, because I would feel much less anxious being away from Bennett for a few days in the hospital knowing he had gone so long, but that's the thing about SCN8A--it doesn't seem to matter how long you go without a seizure. You can go years seizure-free (definitely the exception more than the rule, but it does happen!) and then randomly have another one out of the blue--no warning signs. This is one of the really difficult things about his diagnosis. We will never really get to a place of stability with him, which means that no matter how long we're seizure-free, we will never feel comfortable traveling anywhere we wouldn't have access to a hospital within minutes, we will never feel comfortable letting Bennett play football, soccer, any contact sports really, long drives with stretches of no hospitals within hours will always present extra stress for us, an we will never know if he'll maintain developmental progress or if he'll lose it all with his next seizure. It's a really ambiguous and out-of-control place to live, which is just super great for Dave and I's personalities....not, haha. It's teaching us to be flexible, roll with the punches, learn from Bennett's resilience, and adjust our expectations constantly for his life and ours. And it's also teaching us to rely on others a little more than we're used to, I think. Every time Bennett has a seizure, we have a huge support system that rallies to love and support us and him--either with words, meals, physical help, emotional support, prayers on our behalf, etc. It's really incredible to constantly be reminded how good people are and how much people believe in Bennett. He's definitely a fighter, even with so much working against him, and I love that so many people are rooting for him. It's been a little (and at times, not so little) silver lining in this very cloudy space we're living in right now, and we are continuously grateful. 

So here's to hoping we can get on Trileptal soon and start to see more control with minimal side effects. 3 months is a pretty impressive streak, but we're going to try to beat it this next time! 

1/29/18: 3 Months Seizure-Free!!

Well, we hit a pretty huge milestone on Monday, the 29th of January. 3 Months with no seizure activity! And this was during the Phenobarbital wean which is practically unheard of for SCN8A kids. We are so relieved, and thrilled to have gone so long no seizures!

Even though I've been contracting consistently for a few months now, and they've really picked up the last few weeks, as well as having high blood pressure, I wanted to make the day special for Bennett--especially since we kinda dropped the ball on his birthday and didn't even make him a cake...so I made cupcakes for him right before I headed to an OB appt. to check on baby girl. I figured we could celebrate with Bennett once I got home after dinner :).

Unfortunately, I got sent over to labor and delivery to be monitored because of high blood pressure, protein in my urine, and painful contractions which have left me dilated to a 3 and 70% effaced at just 34 weeks (movement from the last two weeks, unfortunately). I fought really hard to not have to go in to be monitored because I really wanted to celebrate with Bennett (even though I logically know he has no clue what's happening, haha), but in the end I agreed to go at least get labs drawn. I cried on the way over because I was so sad to miss celebrating with my baby on what feels like a HUGE day for us. And I ended up staying hooked up to the monitors for a few hours, so I definitely missed dinner and bedtime. It was the first time I felt a little resentment (or something close to it? Maybe not that strong), or a pang, that I had to miss an important moment in Bennett's life because of this second baby we're about to welcome to the family. But pretty quickly I had the rational thought, "She is probably going to have MORE than enough opportunity to be missing her parents on important days because of medical emergencies or other crises for Bennett. It's going to work out. You'll find the balance." As hard as that is to acknowledge, I'm pretty sure it's an accurate statement, and I'd be lying if I didn't say I was a little nervous to start navigating that dynamic with our kids. 

Anyway, so my labs came back with incredibly high protein levels in my urine, and high blood pressure, but they still felt comfortable just diagnosing me with preeclampsia officially, keeping me pregnant and sending me home just watching very closely from here on out for symptoms of HELLP or preeclampsia to escalate.

We were able to celebrate one day late and Bennett still loved his cupcake and I had time to make him an SCN8A onesie finally, so that worked out great. :) We're pretty grateful to have seen him make such strides the past 3 months. He's getting closer to clearly saying MaMa and DaDa and maybe actually knowing what they mean. He's communicating better with us overall. He can climb the stairs all by himself! His sleep has still been pretty stable--NO SWADDLES--halleluuuuuujah! And he is even more confident with his cruising and pulling to stand than he was before. Just waiting for those first real steps! Congrats Bennett, keep it up!!

Remus took his cupcake ^^.