11.10.2017 SCN8A Mutation..."Diagnosis"?

It's been almost 48 hours since we got the call from Dr. Morita that she had Bennett's genetic testing results. He doesn't have the SCN1A mutation which is the gene associated with Dravet Syndrome. That's the syndrome I was most worried about and what pushed me to ask for testing in the first place. But he does have another mutation on his SCN8A gene. I knew a couple of families in the Dravet support group on Facebook who had a mutation on this gene, but I knew essentially nothing about it. At first I was relieved to hear his SCN1A gene was normal. But after two days of researching and connecting with other families of SCN8A mutants (is that terrible? haha), I almost wish he had Dravet instead of SCN8A. Dravet Syndrome has thousands of cases reported in the literature and a good amount of research being done about it. SCN8A has a total of 150 cases ever reported...ever...in the entire world. To give you a sense of how rare this "diagnosis" is, I'll show you what came up when I googled his specific mutation 5 minutes after getting the call:

That was pretty terrifying. Most parents get the same result when they look up their kids' SCN8A mutation too. There's just so little known and reported about it. I also tried searching Facebook for SCN8A parent support groups and found nothing--absolutely nothing. Luckily I was able to connect with a couple of the parents on the Dravet page who's children had SCN8A mutations and they told me that their support group was secret on Facebook so you had to be invited. They also pointed me to another couple of resources out there that have been developed in the last few years. The LAST FEW YEARS. That's how recent this research is on this mutation--like literally, Corinne (my sister who does genetics) looked up his mutation and it's not in any databases. It's never been reported as far as we can tell. Others on the SCN8A gene have been, but just not his exact missense substitution. Guess you can't say Bennett's not unique, right? One of a kind...

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So what does this mean? Well, we're lucky in a sense because we actually found what we assume is the cause for his seizures. Most causes for epilepsy are never figured out, so families just say "epilepsy with no discernable cause". So we actually have a root cause we can point to (most likely), which is rare, but unfortunately you almost don't want to be able to point to a "cause" because the prognosis for any of these recognized epilepsy syndromes is usually pretty bleak--that's why they get studied in the first place. And SCN8A is no exception, unfortunately.

There's a few websites out there that seem to hold all the information for families which I'll put here for anyone who's curious--and so I have a convenient place to keep a list of them.

The Cute Syndrome Foundation-The SCN8A mutation has been deemed "The Cute Syndrome" because all of the kids affected are just so cute, haha. So I guess that's what we'll start calling Bennett's epilepsy. That seems to fit him, right? ;) 

University of Arizona SCN8A Research-The main geneticist gathering and analyzing data is Dr. Hammer who is at the U of A. His own daughter had an SCN8A mutation (he was the first one to ever find it) and passed away from it a few years ago. He has committed to furthering the research and resources spent on finding good treatment options for other kids suffering from Cute Syndrome. It's actually pretty incredible what he's accomplished in a few short years. He has a registry of every documented case (that he can find or who finds him) and I think it's up to around 100 now! He collaborates with parents to collect the information we want to know--things like which meds make things worse for our kids, which seem to be the most effective, other comorbid disabilities or diagnoses, seizure types, mortality rates, developmental delays and milestones hit and missed, etc. He's also part of the parent support group on Facebook so he can answer questions directly for us.

Wishes for Elliot-There are a handful of websites, Facebook pages, and blogs out there following individual kids' experiences with Cute Syndrome. This was maybe not a great place for me to start looking for details because a lot of these kids are on the severe end of the spectrum and are completely dependent on others for feeding, walking, communicating, etc. along with continuing to have dangerous long seizures that land them in the hospital regularly. But I was so grateful to just find ANYONE who had ANY information about SCN8A that I couldn't stop reading their stories. These kids and families are true fighters, and it's pretty inspiring to read about their roller coaster ride that is Cute Syndrome and continue to feel their hope and strength through it all--even though it's painful to acknowledge that there's a possibility we could be embarking on the same journey.

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The first night after getting his "diagnosis" (I put quotes here because it's really not as straightforward as a diagnosis--there's a range of presentations in kids who have SCN8A mutations with lots of differences and a few similarities between cases) was the hardest for Dave and I. At this point we only had the info we'd found online to go off of and it was pretty devastating. The general sense I had so far was that everyone who had an SCN8A mutation was pathological in some way--regardless of the specific mutation, 80% of kids were entirely nonverbal, all of them had an intellectual disability of some sort, a majority had physical disabilities as well, and the risk of Sudden Death in Epilepsy (SUDEP) was higher in Cute Syndrome kids than other epilepsies, which meant that just this year, 9 kids passed away, and it seemed rare to live much past the teen years. Cute Syndrome kids' seizures tend to be what they call "status epilepticus" which means they are long enough that you have to go to the ER and administer meds to get them to stop--some lasting multiple hours on end or longer. Apparently a lot of the cases of Cute Syndrome have also reported heart arrhythmias associated with status seizures, which is the leading theory on why the SUDEP rate is higher than normal for our kids than other epilepsies. So that was all equally as terrifying, if not more so, as my google search coming up empty.  

I kept scouring the research for exceptions and cases where someone with the mutation actually developed typically or found seizure control or any positive outcome, but came up with nothing. Dave and I just held each other and cried after Bennett was asleep that night. We cried at the realization that he was never going to "grow out of" his seizures. We cried at the possibility of status seizures sending him to the hospital fighting for his life. We cried imagining losing his smile or his laugh again. We cried thinking about all the things he might never be able to do. We cried because there are no answers. We cried because we're terrified to be responsible for this little baby of ours when we have no idea how to help him. We cried at the thought of his next regression. I cried at the thought that he may never say "mama". We cried at the thought of losing him. We cried for his sister and all this might mean for her too. We cried that he'd been on a medicine for months that turned out to be known to make things drastically worse for kids with SCN8A mutations. We cried thinking about how to capture every second of every day while we still have him with us fully right now. And how terrifying the thought is that we may need these pictures and videos in the future just to see his smile or hear his laugh again. We just cried. We cried a lot. Well, I cried a lot, Dave cried a little. And we committed to enjoy every moment with him and celebrate the progress and not live life waiting for the other shoe to drop. But this feels so vulnerable to me. I feel like the harder I love him, the harder I'll fall if we ever do lose him. But I logically know I'll obviously regret it if I put up a wall right now. So for now, we'll make the choice to be excited about little victories and love Bennett every moment of every day--regardless of the impact this syndrome may be having on him. 

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Thankfully, the next day I was added to the parent support group on Facebook and after introducing ourselves and Bennett to the group a few other parents reached out to me because their kids' experience was similar to how Bennett's was in the beginning. There were a couple of those kids who were actually independently functioning, with only mild emotional disabilities, or just behind a couple years in school. But they could walk and talk and read and write and everything. One of them had gone 4 years seizure-free! 

As I searched through the past posts on the page I discovered that there are actually 4 families here in Utah with kids with Cute Syndrome! That was such a comfort to me, for some reason. Just to not feel so alone I think. And the more I read, the more I came across stories of kids who were on the mild end of the spectrum or got seizure control really early on who rarely have status seizures, or have recovered from regressions, continued to develop, enroll in public school (always with some assistance), and have friends and a close-to-typical life. This has been so hopeful for us. We're one of the few who got a diagnosis so early on in the progression of the epilepsy. We are now able to tailor Bennett's medications and treatment plans to the known aspects of Cute Syndrome. For example, we found out that Keppra makes almost every single kid worse if they have an SCN8A mutation. So we were right. Keppra was the cause of a lot of his issues these last few months. It makes me sick to think of how long he was on it, but it is honestly SO rare to have this reaction to it and none of our neurologists seem to have even heard of SCN8A so I don't know how they would have ever known. 

It seems like the kids who had relatively stable control of the seizures early on tend to develop pretty well and not suffer as extremely as the kids who still have seizures daily. I'm hopeful that since we've found some control early on already maybe it's a good sign that Bennett's seizures will be manageable. I am worried because they've definitely gotten longer than they used to be. That last two were about 10 minutes and he didn't come back to us for probably another 30. They used to be 5 minutes and he would come back right away before passing out to sleep. We can't just say his seizures are benign anymore, because Cute Syndrome kids are known to have status seizures that cause severe regressions or brain damage if left uncontrolled. So the priority moves from eliminating as many side effects as possible, to eliminating as many seizures as possible. This is good to know, because it means we will be more cautious when switching meds and we have more information when we have to make decisions about quality of life vs. seizure control for him. 

It feels strange knowing that our lives will never be the same, yet the world goes on as if nothing has changed. Dave was trying on ski boots the day we got the diagnosis and the employee said something to Bennett like, "Are you gonna be a little skiier someday?". And we both just sort of half-smiled and quietly said, "Yeah...maybe...", knowing that there's a chance he may never be able to ski. It's difficult to grapple with the reality of the extremely negative possibilities and the hope that maybe he'll be one of the lucky ones who continues to learn and develop on track as long as his seizures are controlled. They say the only thing predictable about epilepsy is that it's unpredictable--and Cute Syndrome seems to take that to the extreme with the ups and downs and the progress and regressions the kids go through with each batch of seizures or new meds. So all we can do is live in the moment, pay attention to how he's developing and make adjustments along the way as needed, and pray that somehow Heavenly Father carries us all through this as we adjust to our new normal. 

10.26.17 Acid Reflux and First Primary Children's Appt

We are officially 2 weeks Keppra-free with no seizures! This is the longest seizure-free streak we've had since they started in July and we're thrilled! I'm finding myself enjoying Bennett and enjoying the little moments every day without waiting with bated breath for his next seizure a lot more frequently and it has been SO nice. I feel overall more relaxed and hopeful than I have in a few months and it has been much needed.

Yesterday we saw Dr. Van Orme at Primary Children's hospital yesterday morning because they had a last minute opening (we weren't supposed to get in for another 4 months...). Van Orme was pretty old, but he was kind and patient. I think the appt. was almost 2 hours with him answering all my questions about medications and treatment plans. I told him I wanted to get Bennett off all AED's as soon as possible, and maybe CBD was the answer to that, but he was not a fan of that plan. He was pretty adamant that phenobarbital can be perfectly safe and he has plenty of patients on it with no cognitive impairment or delays. This flies in the face of about 90% of people's experiences I've heard and read about with their kids on phenobarbital. He offered up a couple different drugs we could try instead if I feel uncomfortable with it, but didn't seem too keen on the plan. He did order a nocturnal EEG for us, which I wanted because in the last week I've noticed Bennett having seizure-like activity at night where he wakes up around 2 am and convulses and then screams until he finally passes out an hour later.

We also went to see Dr. Morita yesterday because we had our follow-up scheduled with her a month ago and I decided to just keep both appointments to get a second opinion. She agreed about trying the nocturnal EEG and suggested an ambulatory one if the first EEG doesn't capture anything. That would be 3-4 days of Bennett being hooked up at home to the equipment, but I'm trying to avoid it because it sounds miserable to me, haha. But it can give us more data to work with, which would be worth it. She was clearer on which medication she recommended and agreed that Phenobarbital is a drug we want to get off ASAP because it DOES cause developmental delays. We decided to switch to Zonegran, but first we'll get the EEG and then slowly ramp up the Zonegran to therapeutic levels and then wean off the Pheno. I was happier with our appt. with Morita, and I think we'll continue to work with her. She seems to be a little more up on the current research, and is supportive of CBD as an option for Bennett.

The other notable developments this week are brought to you by Ranitidine. Ranitidine is the generic for Zantac and Bennett's been on it since he was about 4 months old because he's had pretty bad reflux. Now, Dave has never been convinced that he actually has reflux, and last month he convinced me to take Bennett off the Ranitidine to see if it really was making a difference. After about a month and a half of AWFUL sleep (not that he's ever really had great sleep, but this was worse than normal), we finally put him back on it a few days ago and Oh. My. Gosh. I will never forgive Dave, haha. Bennett's a totally different kid again! He was SO irritable and screaming in pain almost the entire day this last week and now he's content, plays by himself, sleeps longer than 2 hour stretches at night, and doesn't seem to be in pain! Needless to say, we are going to stay on the Ranitidine a little while longer.

The last few days have been awesome with him being so content and sleeping well, we're crossing our fingers he stays like this and remains seizure-free!!

Also, he CLAPPED!!!!!!!

10.20.17 Little Victories

It's been 8 full days of no Keppra and I feel like I have my Bennett back! He's still definitely not where he should be with his milestones yet, but he is SO much more interactive and interested in us it feels like he woke up from being a zombie the last three months. I had a lot of moments of reflection this week for some reason. I'm finally feeling pretty close to normal (as normal as it gets in pregnancy for me) so I think I have more energy and emotional space to dedicate to Bennett right now than I have for the past 20 weeks. But also because since we started weaning the Keppra we've just seen such amazing changes in him, it's hard not to sit there in awe and just soak it in sometimes.

I meant to write a few different days this week because I didn't want to forget what it felt like during those moments of reflection, but this will have to do because we're working on our Lehi house like crazy and by the end of the day I'm barely awake enough to get ready for bed--let alone write my feelings down. 

The first day of no Keppra (October 11th) Bennett started a new thing that I was worried about because it looked like an automatism to me which can be a sign of a seizure happening. He started sticking his tongue in and out back and forth and kinda spacing out while he did it, and then snapping back and fussing for a few seconds. I took probably about 8 minutes of video throughout the night trying to catch him doing it so I could show Dave and see what he thought. We decided to just keep watching and see what came of it and that night as I was putting Bennett to bed I held him in my arms as he finished his bottle and we cuddled for just a minute or so, but I copied him after he stuck his tongue in and out and he just beamed at me and repeated it!! He hasn't mimicked our gestures since before the seizures started and my heart just leapt when he did it that night. I was still cautiously hopeful because I didn't want to rule out an absence seizure or anything that might be happening with a Keppra withdrawal, but I was hopeful! He was copying me! I stayed and held him probably another 10 minutes just going back and forth with him trading smiles and sticking out tongues with him. I felt like for the first time in a really long time he actually knew who I was and was happy I was playing with him and he wanted to play with me too! I can't describe how much that meant to me in that moment. I'm pretty sure I was beaming the whole rest of the night. 

His sleep still hasn't been great since the wean. We had a sweet spot where I think we were on 1 ml 2x a day where he was only waking up once during the night which was HEAVEN, but he's back to his normal antics of every couple of hours wanting a bottle. That's a bummer, but we're hopeful that might level out the further out from the wean we get. Even with the lack of sleep though, he's been SO much more content overall. He had the best Sunday (October 15th) he's ever had in church with us. Hardly any fussing, actually stayed content so we could stay in sacrament meeting without having to walk with him, didn't fall asleep until we got home for nap time, etc. It was so great. 

On Monday (October 16th) he took a 2.5 hour nap in the morning and a 2 hour nap in the afternoon which was AMAZING!! And he's had no problem settling himself down without the swaddle now even though he did regress there for a few days last week after the last dose. Now he'll play in the crib until he falls asleep and he sort of just talks to himself, which is so fun to hear. For so long we only ever heard noises of discomfort or frustration from him--it's a totally different world to hear him babbling happily! 

On Wednesday we had probably the sweetest moment for Dave and I this week, though. I was feeding Bennett lunch in his high chair and he was distracted so I made a loud deep noise at him which startled him and he started giggling! I did it again and he just cracked up harder and harder the more I did it. I used to always be able to get him to laugh back and forth with me like that whenever I would make a silly noise or scare him a little, but the last time that happened was at Dave's family reunion, which was about a week before the first seizure. I honestly had forgotten how easy it used to be, and how much joy it brings me to see him laughing so hard because of something I'm doing. I whipped out my phone real quick--grateful to be trying to film him laughing rather than seizing--and caught a couple seconds of it to send to Dave. I sent him the video and said "We have our Bennett back!!! <3". Once he watched it about an hour later he texted me that watching the video brought tears to his eyes. He was so happy to see him laughing so carefree like that and fully engaged with me. He told me later that night that his coworkers were kind of teasing him because he was tearing up watching the video, and he was just trying to get them to understand that there was a time just a few weeks ago we were worried we would never hear that from him again. We didn't know if we'd ever be able to interact with him like this in his lifetime and this was just the sweetest gift to see this part of him back with us again.

I don't know that anyone can really ever understand the heartbreak a parent goes through when they watch their child slowly slip away from them--one skill, one personality trait, one smile, one day at a time. And the heartbreak is even more intense when the future is unknown. He could gain all this back and we could live a mostly normal life with him...or this could be the beginning of losing him completely. There's just no way to know, and the best we can do is try to enjoy him where he's at and try not to think about the things we miss about him or the things we know he'll never be able to do. One blog I read put it this way, "It's difficult for me when every birthday I watch my 8 year old open yet another baby toy, when other kids his age are getting new bikes or roller blades. But I just try to get through the birthdays as best I can--they're the hardest because with them comes a reminder of what my child can't do." I think because I've prepped myself mentally for Bennett's seizures to get worse and for his development to go downhill from here just in case that's his lot in life, every time he makes some progress or relearns something he forgot feels like a huge gift--something most parents wouldn't think twice about, but I hold onto for dear life. 

I've watched that video probably a hundred times by now (2 days later), just grateful to hear his laugh and see the way he looks at me during it. I can't really describe why I come close to tears every time he reaches for me now "because I'm his mom" when before, he literally looked at me the same way he did every other adult in the room. I noticed I had the thought today "This kid's gonna be walking soon!", which feels so vulnerable and exciting at the same time. He really does seem to be learning and improving his walking (skipping crawling completely at this point...), but I know all it takes is one bad seizure to bring a regression, so I still try to keep my expectations in check. But I can't help but get excited when he smiles at and wants to play with the Christmas decorations at Home Depot. It's just been so long since I've seen him so engaged in life and other people, I go to bed every night just praying that he stays like this. 

I told Dave a night or two after I'd had Bennett and he was in the NICU in the hospital (for a fever that ended up being nothing) that I finally understood what people meant when they talked about loving someone so much it hurts and is terrifying. I told him if anything happened to Bennett I wasn't sure I'd make it. I think I could handle it if something happened to Dave, but I just couldn't go on if we lost Bennett. That thought has echoed in my head this past week. I've never felt so vulnerable in hoping for something and loving someone as I do right now with Bennett. I want things to stay good so badly and I'm terrified of when his next seizure might hit. But right now we're a month seizure free and fully off of Keppra--which is incredible. The next step is to get him off the Phenobarbital if we can to make sure it's not causing developmental issues either (since he's still way behind). We have an appointment this week with Dr. Morita so we'll see what she says.

I think that through all the tears and prayers and heartache with this journey so far, this week has been overwhelmingly filled with a feeling of gratitude. Grateful that he's still here with us. Grateful that he's trying to interact with us. Grateful to hear him laugh. Grateful for no seizures. Grateful to be done with the Keppra. Grateful he finally cut his fourth tooth! Grateful he knows who is Mom and Dad are now. Grateful to feel loved by him. Grateful for every second at night I get to hold him close to me as he drifts off to sleep. And grateful that because it feels like this all threatened to disappear after the seizures, I'm able to enjoy it a hundred times more intensely and really live in each moment with him. I don't think many parents get that opportunity and although I think I'd rather pass on the whole experience, I'm grateful for it right now. I try not to take any second for granted and it makes me love him that much more. 

10.9.17 The Keppra Wean

Some days are easier than others. Some days I almost forget Bennett has had over 40 seizures in the last 3 months. Or that it isn't normal for a 10-month old be such a pro at taking medicine from syringes multiple times a day. Some days I can forget the last time he stopped breathing in my arms. The last time he convulsed unconsciously for minutes on end while I held him helplessly. I forget that we have no idea what the rest of his life holds--or ours, for that matter--as far as his health is concerned. I just enjoy watching my baby play with his dog, smile when his dad throws him up in the air, swim in the bath, and other normal baby things.

Other days are harder. Today's a hard day for me. We're weaning Bennett off of the first medication  (Keppra) he was put on back when the seizures first started in July because I'm worried about what the side effects are doing to him developmentally and it doesn't seem like it's controlling the seizures anyway. So even though I feel relatively confident that this is the right thing to try right now, I'm terrified. There's something about being on medicines that feels proactive--even though in reality, he's probably better off without this one. It's scarier to feel like we're not giving him every medicine we possibly can than it is to just keep throwing medicine at the problem hoping something works eventually. 

It's been 2 weeks since we started the slow-wean and I feel like I've gotten pieces of my Bennett back every day. He responds to his name a little more frequently now, he can put himself to sleep without a swaddle most of the time, he eats food again and takes his bottles more easily, and the best thing is that he seems less upset all of the time. But also since we started lowering his dose I feel like all I've been doing for days on end now is staring at him intently--just waiting for the first sign of the impending seizure to start. Every time he's quiet in the car for more than a minute or so, I look back there to make sure his eyes aren't pinned or glazed, that his hand isn't twitching, his head isn't dropping. Every time he strains to poop I hold my breath afraid he's about to turn blue. Every time he hits his head on something, I immediately scoop him up just in case he starts seizing because of it. And every time he gets out of the bath my heart beats a little faster with the fear that we could be about to relive that first night he seized.

He actually hasn't had any withdrawal or rebound seizures since we initially lowered the dose, which is a great sign--except I personally think it bolsters my argument that Keppra was never helping in the first place, and may have actually made his seizures more frequent. But tomorrow night we'll be giving him his last dose and then he'll be fully off of Keppra. Relying on just the Phenobarbital (the second med he's on) to control his seizures. Some people do fine when they come all the way off Keppra--others start to see massive increases in seizures, and we're just sitting right in the middle of not-knowing right now. I guess they can have rebound seizures up to a week or two after the wean is complete, so this ambiguity will continue until then at least for now. 

My friend asked me yesterday what I'm most scared of happening after his last dose tonight. I wasn't completely honest with her because I wasn't ready to say it out loud yet, but I'm terrified that if we can't control the seizures he'll have one that lasts long enough that we can't stop it on our own and he'll end up in the hospital fighting for his life. We've been lucky so far that his longest seizure was just 10 minutes 2 weeks ago and it stopped on its own, but even that was scary because it was an increase from his typical 5 minute seizures. Which means there's a chance they could ramp up and continue to get longer and scarier unless we figure out the right med cocktail to keep them at bay--which unfortunately seems less common the more I research about idiopathic epilepsy at this young age. 

Here's to hoping the Phenobarbital continues to do its job and we don't have to go through any Keppra withdrawals or rebounds after tomorrow night. Wish us luck!