I’m sure these posts are incredibly boring to read for most of you, but I need a place to record our symptom changes as we mess with Bennett’s meds and can’t keep them all straight in our heads. So today marked day 8 of lowering the Phenobarbital to 22.5 mg/day from his initial 30mg/day dose. It also marks day 19(ish) of being at 30mg/day of Zonegran. Last night was the worst night we’ve had in a while. Bennett’s sleep has been rough basically for the last few weeks consistently, but last night he literally went down at 6, up at 10:30-2:00AM screaming, slept on Dave in the bonus room chair for like 2 hours and then finally went down at 4ish until 7 when he was up for the day just screaming from the get go. During the last few days he’s been miserable as well.
I woke up with a nasty cold yesterday and it was much worse today, so I’m wondering if maybe he’s feeling like I am (sore throat, headache, sinus issues, coughing), but he didn’t seem too sick earlier so it didn’t really cross my mind. But Tylenol and some natural baby cold syrup seems to be helping him so maybe he is? It’s so hard to know. But I wanted to document his behavior from the last few days. I haven’t been able to set him down without him screaming and crying to be picked up, but he’s not happy being held either. Every once in a while he’s content to walk in his walker, but that’s generally short lived. His appetite is down as well. We’re having to force him to eat even one thing of baby food at lunch and dinner. And he’ll take about 6 bites of table food before he pushes it away and refuses to eat anymore.
After going back and reading the last few posts, I’m thinking that 30mg of Zonegran is a bad dose for him. He seemed to do better on 2 mL—temperament and sleep-wise. His sleep struggles started when we upped to 3 mL and have only really gotten worse with the added Phenobarbital wean. It makes me want to back off to 2 mL of Zonegran while we’re still on a good amount of Phenobarbital for him to see if it helps the sleep issues.
The other culprit could definitely be his acid reflux. We STILL never got an Omeprazole prescription sent in correctly so we had a pulmonologist who ordered a sleep study for Bennett call in a different one—Prevacid solutabs 15 mg/day. We started that yesterday so it’s possible last night was a result of the new antacid med, but Dave wanted to continue with the dosing tonight as usual so we’ll see how he does with his second 15 mg dose! I’m super nervous. I’m really sick. I think Bennett might be sick. And Dave’s about to drop dead of exhaustion. After not sleeping at all last night he had to stay home to take care of me and Bennett while trying to work all day too :/.
I’m just praying Bennett sleeps tonight (we didn’t start off great...took 90 minutes of him swaddled and rocked before he would take 6 oz and pass out) so we can recover a tiny bit. And praying that we get some clarity about what to adjust to help fix his sleep. We can’t live like this!!!!!
Thursday, November 30, 2017
Monday, November 27, 2017
11.27.17 Pediatric Follow-Up and Pheno Wean
I really wanted to get started on a sleep study for Bennett and see if we could get a pulse oximeter as soon as possible, plus we really felt like we needed to change his reflux meds because the Ranitidine was doing nothing for him anymore and his burps and poops were super acidic all week. Plus he was just fussy and irritable a lot. So I called Alpine Pediatrics and asked if there was any way they could squeeze us in even though it was the day before Thanksgiving. They were great and scheduled us with our regular doctor that afternoon so I could ask him about everything for Bennett.
I was actually pleasantly surprised how willing he was to refer us to a sleep apnea specialist for a sleep study, order a monitoring system for Bennett at night, and change his reflux meds. He seemed to actually take the SCN8A diagnosis a little more seriously than Dr. Morita did--we've noticed this trend in the neurology world. Neurologists are almost callous about seizures because they see them so often (I'm sure that's only natural, it's just sometimes that's hard on the parents of these kids who are seizing, I think...). Pediatricians seem to take seizures way more seriously, which is helpful in instances like this.
Unfortunately, the doctor actually sent an apnea monitor over that night--which alarms if Bennett stops breathing for 20 seconds or more, or if his oxygen falls out of a certain preset range, but it doesn't tell us his heart rate or oxygen level specifically. I decided I'd call once the office opened on Friday and see if they'd rewrite the script for an actual pulse oximeter since that measures what we're actually wanting to keep track of (oxygen and heart rate levels). They also sent over his reflux prescription to our pharmacy, but our insurance refused to cover the format they asked for. It's 4 days later and we STILL don't have the right prescription sent for his Omeprazole, but we are just using the over the counter pills for now and cutting them in half to get the dosage right (or at least close to right?). So crazy, haha. It does seem to be helping though! More than the Ranitidine, anyway. He hasn't been screaming as much when we lie him down and he's eating better from the bottle. Pray that this medicine keeps his reflux under control--we just do not need that to be a whole other issue on top of everything else right now...
So the night of the appointments with Dr. Morita and our pediatrician we started the first dose of our Phenobarbital wean!! This was super exciting and also really terrifying to me. I can't WAIT for him to be off of that drug completely because it's supposed to be the worst culprit for causing developmental delays and regressions, and I'm hopeful that once he's off he'll be able to coordinate his gross motor skills a little better and crawl on his knees and walk soon. I'm terrified though because Phenobarbital does seem to control his seizures really well for the most part. I think we've only ever had a handful since we started it. And in reading the SCN8A stories of the parents who weaned their kids from it, a majority of them saw the beginning of their huge status seizures start during their Pheno wean. All except one of them still says they would do it again to get off the Phenobarbital, but they all warned me to go ridiculously slow and be patient--don't rush him off of it even though it's tempting as you start to see him come alive again.
We're going down by 25% of his dose at a time. So 7.5mg out of 30 mg/day and we'll hold for 2-3 weeks, then drop another 7.5, and repeat until we're all the way off. This is much faster than most of the kids are able to do (most do around 10% each drop), but Bennett's dose seems lower than most of theirs, so I'm hopeful that with the coverage from Zonegran, we might be okay. Phenobarbital has a half life of 9 DAYS apparently...so we won't really know how he's doing until 2 weeks after the most recent drop, which is tough. It's tempting to want to go fast because we're already seeing improvements and it's only been 5 days!
We dropped his first dose by 25% on Wednesday (11/22), and that first night was hellish. Actually, his sleep has been pretty horrible since the drop, but he was also struggling on the Zonegran so it's hard to know what's what at this point. Either way, he's needing to be swaddled to get to sleep most nights, and when he wakes up, he wants to play play playyyyy. It honestly felt like that very first night he just all of a sudden understood that he could crawl anywhere he wanted and explore things on his own so he was going to do it alllllll night, haha. Within the next day or two, I was reading him a book we've read hundreds of times and he pointed to a red balloon on the first page. He never really points things out in the books, just sort of enjoys turning the pages and closing and opening the book. But this time, each page we flipped he would point to the red balloon! It was so crazy to me! It feels like he's sort of seeing things for the first time and processing them in new ways than he ever has.
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| Teething up a storm! Cut a tooth yesterday! |
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| We turned around and somehow he had gotten himself stuck in here! Such a different kid! |
He also started waving intentionally yesterday and actually did it on cue this morning! We've tried that with him for months...and all of a sudden it clicked! And from day 2 of the wean I would say, he is constantly working on getting his knees under him and coordinating his hand movements with his knees to crawl in the proper position. Oh, and he wants to cruise all day long. I really do think he'll be walking pretty soon--which is amazing!! He's also exploring his voice in new ways right now. He's making all sorts of new sounds with his mouth and hearing new pitches and copying our intonation and such. It's really fun to watch. It really does feel like he's coming alive, to some extent. And this is all just after the first 25% drop! Of course it's possible this is all coincidence and he would've made these leaps this week anyway, but it sure feels like it's related to the Pheno wean. Now we just have to make it through this week (over the 9 day hump) with no seizures to be sure we're still in the clear to be able to drop again.
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| Happy baby!! |
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| I love when we see his scrunchy nose smile because that was missing for so long when he was on the Keppra. |
11.26.17 Morita Appointment Post-SCN8A Diagnosis
This week has been a crazy week for managing health issues with Bennett and I. It started on Tuesday night (11/21) as I was trying to prep for our appointment with Dr. Morita the following morning at 8 am. When she gave us our results over the phone a few weeks ago it was clear that she had no idea what an SCN8A mutation meant, so I assumed I would need to bring in a few resources to help bring her up to speed on the current research and accepted treatment plans for these kids as we discussed Bennett's future care.
I didn't think it would take me hours to comb through all of the resources to try to find the most relevant info and print out over 50 pages I highlighted and underlined to bring to her...but it did. I think I stayed up until midnight or something obscene like that just putting together as much credible info as I could about medications with SCN8A kids, prognosis, development issues, labs we would need to run, other comorbidities to watch and be aware of, along with some of my own questions I had. In the end I had my 50 page stack from the SCN8A websites and a handout for me which served as an outline of all of my questions I wanted answered. I'll post it here just because as complex as my own personal health issues have been in the past--I have NEVER reached this level or preparation for an appointment, and I'm 1 part proud and 2 parts embarrassed that I'm THAT mom, haha:
I didn't think it would take me hours to comb through all of the resources to try to find the most relevant info and print out over 50 pages I highlighted and underlined to bring to her...but it did. I think I stayed up until midnight or something obscene like that just putting together as much credible info as I could about medications with SCN8A kids, prognosis, development issues, labs we would need to run, other comorbidities to watch and be aware of, along with some of my own questions I had. In the end I had my 50 page stack from the SCN8A websites and a handout for me which served as an outline of all of my questions I wanted answered. I'll post it here just because as complex as my own personal health issues have been in the past--I have NEVER reached this level or preparation for an appointment, and I'm 1 part proud and 2 parts embarrassed that I'm THAT mom, haha:
Dr. Morita Appt. 11.22.17
- Genetic Report Copies—Electronic and
paper.
- Resources about how to best manage SCN8A.
- Medications:
o
Therapeutic level for Zonegran (.5 mL more
okay?). Calcium Channel blocker vs. Sodium Channel. Sodium seem more effective
for SCN8A? Worth changing? Has it been studied in infants? Is it safe? Levels
for acidosis I think?
o
Best way to get the Zonegran and covered by
insurance?
o
How to best wean the Phenobarbital—SLOW. Do we
need a compounded prescription maybe? 2.5-5 mg/2 weeks seems to be the average.
Most on around 40-50 mg or higher.
o
Next step med: Trileptal, then Lamictal. Which
will take longer to ramp to therapeutic levels? Pros and Cons?
o
Check levels regularly?
o
Emergency med: We need one. Before the Pheno
wean. What should Bennett use? What does 911 administer? NOT KEPPRA. (For over
Christmas if we have seizures) What’s our time limit? Last two seizures have
been 10 min each.
- Sleep:
o
Sleep study?
o
Possible apnea—very common in SCN8A kids.
Startling awake, sometimes after not breathing. Still needing to be swaddled,
etc.
- Monitoring:
o
Pulse Ox script.
o
Heartrate monitor, etc. Insurance script for it
SUDEP.
o
Oxygen at home
- Cardiac Workup:
o
Echocardiogram,
24 hour EKG, halter monitor?
o
Establish a baseline
- Emergency Room Protocol:
o
He turns blue…so:
o
Which meds are we looking for them to
administer? What kind of dosing? Is oxygen appropriate at 911 level? Or wait
until at hospital? Which meds to stay away from if we are on Zonegran and
Trileptal? Or just Zonegran? What labs are we expecting them to run after a
status episode?
o
How best to get ahold of you? Email? Phone? Not
leave a message with the nurse…
- Reflux:
o
Ranitidine—we are at max therapeutic levels and
still having very acidic burps and poops and screaming at the bottle. It seems
ineffective and I think he’s built a tolerance. Can we get a prescription for
one of the other PPI’s? Will that interfere with epileptic drugs? I would like
someone watching ALL his meds and levels.
o
Esomeprazole, found in Nexium®
o
Omeprazole, Prilosec®, Zegerid®
o
Lansoprazole, found in Prevacid® and generic
forms
o
Pantoprazole, found in Protonix®
- Immunizations:
o
May lower his seizure threshold, what do you
recommend for spacing them out?
- CBD:
o
Once we have our next seizure we technically
qualify. Can we get that process started? People report great adjunct
therapeutic effects of minimizing side effects from drugs.
- Dr. Hammer:
o
Do you want his contact info? He is happy to
consult with docs new to treating SCN8A.
The appointment started with me showing Dr. Morita the papers I had brought and her response being, "Oh, he doesn't have that." I was caught off guard, to say the least. "What?" I asked. "Yeah, his is a mutation of unknown significance on that gene." At that point I just laughed and said, "Ohh, yeah no all of the mutations on the SCN8A gene are of unknown significance because most of them are brand new. But he does, in fact, have a mutation on this gene and there is good documented evidence at this point to show that these kids all have certain things in common as far as their prognosis goes." To her credit, at this point Dr. Morita was pretty open to hearing what I had to say and reading the papers I had brought to get a sense of what I was talking about. She told me she was out of her depth with this and that she'd be happy to refer me to an epileptologist at the U, which I declined because I told her we'd already tried working with them twice and had bad experiences both times. I also reassured her that literally no one is "in their depth" when working with SCN8A epilepsy because it's just so rare and hardly been studied. I just asked her if she'd be willing to work with us on finding a good treatment plan together that we all felt comfortable with, which she agreed to, so I told her we would like to continue working with her.
She seemed okay with this, so we continued on to my questions for the appointment. Overall, the appointment was good, not great. I really wanted us to have a rescue med at home (something we give rectally or nasally to Bennett to stop the seizure immediately when it starts) because now we know that he has a much higher chance of going status on us the longer his seizures go on. But she refused to prescribe one because he only weighs 18 lbs, which is 4 lbs short of the 22 lb standard for having a rescue med at home. The risk I guess is that sometimes the rescue med (usually Diazepam) can actually cause the kids to stop breathing because they're so powerful, and since she also refuses to let us have an oxygen tank at home, we would have no way of reviving him. She is convinced that the best way to go is to just leave the rescue meds and oxygen to the EMT's and call 911 immediately now whenever a seizure starts. This is different than our plan before, which was to only call 911 after 5 minutes if he was still seizing. Luckily he has always stopped on his own--no rescue med needed. But we are about to start to wean him off of Phenobarbital which has given us the best control of all of his meds so far, and we hear it can be a pretty horrific weaning process with intense withdrawal and rebound seizures if you go too quickly. I would love the comfort of having a rescue med at home, rather than having to wait the 10 min for 911 to get there and just hope that the seizure hasn't gone too far that they can't stop it. On the other hand, I understand the risk of him stopping breathing on us (longer than he already does during his seizures...?) and I don't want to do anything we would regret either.
She also denied my request for a prescription for a pulse oximeter to keep on Bennett during the night. I want it for peace of mind that he's breathing and his heart rate is normal throughout the night, as an alert if he were to start seizing at night in his room, and to be able to track what his oxygen levels and heart are doing during his seizures. Almost all of the SCN8A kids have some sort of monitoring like a pulse-ox because SUDEP (Sudden Death in Epilepsy) almost always happens at night with an unwitnessed seizure. I would never forgive myself if we didn't take every precaution knowing that Bennett has the highest-risk seizures for SUDEP (Generalized tonic-clonics), has the SCN8A gene which inherently carries a higher risk, and we were weaning a medicine we knew could cause withdrawal seizures and something happened to him. When I fought her on this (for a long time) she just dug her heels in that the pulse-oximeters lower everyone's quality of sleep, they false alarm, they're not always accurate, etc, etc. But I told her we needed one because we were 10 minutes away from a rescue med if he started seizing and the goal was to stop the seizure as quickly as possible. So she told me I should has his regular pediatrician and see if he'll prescribe one.
She did give us a referral for cardiology at Utah Valley Hospital so we can get a baseline for Bennett and a basic work-up. This was something I wanted because the SCN8A mutation can manifest in cardiac tissue, and they think it may be a big part of what leads to SUDEP, actually, so I want to be sure we're monitoring that in him regularly. I was grateful for the referral, because that could have been a fight. We may still have to fight once we get in with a cardiologist to be sure they understand our reasoning and evidence to support why he needs it, but it was a step!
She also told me that our regular pediatrician was who we should be talking to about getting a sleep study done to check for sleep apnea. I have no idea why she wouldn't just write that referral herself, but I didn't mind because I figured our pediatrician would probably be willing to work with us on that one.
She was surprised and pushed back a little when I told her that the most effective drugs for these kids seem to be the sodium-channel blockers and Trileptal and Lamictal specifically were the best. She said something along the lines of "Other kids with these seizure syndromes tend to do worse on those...". Later I realized she was talking about the Dravet kids (SCN1A mutation), and she's right about that, but for our kids they seem to work. Once I showed her the data and the medication chart she agreed no problem that we should try Trileptal next once we finish the Phenobarbital wean.
The last thing I was excited about was that we might be close to qualifying for the medical marijuana card here in Utah, which would allow us to legally start giving Bennet CBD oil. But when I brought it up (I'd even brought the application with me so we could fill it out there...) she made it very clear that we were NOT close to qualifying. She doesn't consider Bennett to be on high enough levels at this point of Phenobarbital to be considered "therapeutic", so his seizures he's had don't count as "refractory" (medication resistant). I argued that he was absolutely at a therapeutic dose and we'd had labs drawn previously that proved that. She sort of hesitantly acknowledged that she could look at those and see, but that he still would have to be on the highest dose possible of Zonegran and still have a seizure on it to qualify. Yet in the same breath she told me, "You are more than welcome to just order it online and start it on your own though--plenty of families do that." I just sort of exasperatedly said "But it's illegal! Why won't you help us by signing that he has intractable epilepsy (which you agree that he does) if you recommend it?!" She didn't really give a straight answer, which was frustrating to me. I don't actually want to try the CBD for seizure control--his control is actually pretty good right now, but it is supposed to really help the kids with their development and counteract the negative side effects of the AED's.
So I left the appointment with Dr. Morita frustrated that she wouldn't play ball with me on all accounts, but grateful she was willing to read the research and listen to what I had already learned about SCN8A. And I set up an appt. for later that day with our pediatrician to talk about the rest. Luckily they were great and squeezed us in even though it was the day before Thanksgiving and they were slammed!
Monday, November 20, 2017
11.20.2017 Pronouncing Consonants!
Well, this week was rough with Bennett because of the adjustment to the Zonegran (we think). Somewhere around Friday or Saturday he finally started to wake up again and be pretty content most of the day. He started clapping, stopped drooling so much, didn't seem as tired, and on Saturday he actually started trying to imitate us saying "Mooooooo!"! This was HUGE because he has never been able to manage consonants before!
At this age they expect him to be able to at least give a few "b"s and "mmm"s, but he's always only been able to say "aaaahhh". I think he's been trying to mimic "MaMa", but he just couldn't get his mouth to close for the M. So anyway, on Saturday he did it! And he seems to be working really hard at it too. During the days he has been so much happier and more content, but during the nights, his sleep has been cray. He'll go down for sleep, but usually wake up again within 2 hours just totally inconsolable. One night we just kept feeding him so much that he projectile vomited all over Dave and the nursery. So we decided to not rush to the bottle from now on to comfort him. But unfortunately, that had us back in the swaddle...
We were supposed to up his meds one last time yesterday to a full 4 mL, but we decided he seemed to be finally leveling out at the 3 mL dose that we wanted to give him a little longer at this level before changing it on him again. Plus I wanted to ask Dr. Morita if 3.5 mL might actually be a sufficient dose for him, rather than the full 4. We'd love to keep him on as little medicine as possible, obviously.
Yesterday (Sunday, Nov. 21) was the first day since we've officially gotten his SCN8A diagnosis that someone asked us "How's he doing? Is he still having seizures?". It was a really strange moment for me. I didn't really know how to answer her. Like, yes of course he's still having seizures...he isn't going to grow out of them. But no, he hasn't had one in 3 weeks...yet we fully expect him to continue having seizures unless he's the ONE child with an SCN8A mutation who happens to grow out of them. I think I just said, "Well, we actually got an official diagnosis for him last week and he has a seizure syndrome that means he won't really ever grow out of them, but we've had good control the last few weeks and really seen him make some strides in his development."
It was just hard for me to feel like--what am I supposed to say when people ask? It's not like I can say something like he has "Down-syndrome" or "Autism" or any other spectrum-like disease that people are familiar with. It's a full 5 minute explanation that I'm pretty sure people don't genuinely want to hear. Simply because it's painful to look at sweet Bennett and hear about how normal he ISN'T and how he could be totally fine today, and very not okay tomorrow--that we just don't know. People want to hear that we've found the magic bullet and he's never going to seize again and everything's going to be fine. But guess what? Bullets don't fix things. And there is no "magic cure" for Bennett--at least not right now. I described it to Dave as feeling "separate". I said, "When she asked us that I just felt so palpably 'separate'." Isolated or lonely aren't the right emotions, I just feel like we are living this entirely separate parenting experience with our son, and literally no one around us will ever know what it feels like. They have no idea why I come across as a helicopter parent when he's playing in between the rows of chairs at church. Because they don't understand why a bonk on his head is terrifying to me. And why should they? I wouldn't wish that on anyone, honestly. I would give anything to be able to watch Bennett bonk his head and just laugh and reassure him that he's fine like other moms do. But I can't do it when I myself am worried it could send him into his next seizure. I don't want other parents to understand that line of thinking. I really don't. But then where does that leave us? It leaves us in our own separate space. I guess it's the "Parents of an SCN8A Cute Syndrome Mutant" space. And I truly don't want more people to join us there...it's a scary space to live in.
For example...
Last night I was looking up a side effect of Zonegran on the SCN8A Facebook page to see if I could find any other parents' experiences with their kids who were on it at some point, and I was so caught off guard when I came across an old post written by a father of a 10 month old who had been hospitalized for 4 days at this point. He had written the post begging other parents to reassure him that even though he had completely lost his daughter in the last 4 days, that other parents had seen their kids come back to them after such a horrific seizure sent them into a coma and took away their ability to make eye contact, communicate, move independently, smile, laugh, hold their heads up, etc. I was shocked because all of the comments were parents posting about that first time their child "lost everything" in the hospital after a status seizure. They ranged from being 6 months old to 5 or 7 years old and usually had developed typically up until this point with just minor seizures here and there until they landed in the hospital and suddenly regressed back to being an infant developmentally.
I just sat on the bed and cried. I actually told Dave I thought I was about to have a panic attack. I didn't feel like I could get a full breath. He just held me and reassured me that that may be something we have to deal with, but we'll deal with it on that day, not tonight. Tonight we were just going to deal with how to get him to sleep. I joked back and said, "I'm pretty sure you mean for the rest of our lives we're going to deal with how to get him to sleep, haha." I calmed down and didn't have a panic attack thankfully--I just realized that I have been searching all of the positive stories of recovery and hope for the last two weeks and purposefully avoiding the stories of pain and heartache because part of me is too scared to acknowledge the reality that Bennett could very well end up in the hospital like these kids and we could lose his smile and laugh again. All his progress he's making to take steps on his own. His consonants he just started to pronounce. His ability to eat solid foods. It could be taken from us in an instant if the wrong set of circumstances just happen to line up and we're unable to intervene quickly enough. It felt like too much to bear last night. And honestly, it still is. The only thing I can do is just take videos and pictures of him and hope they're enough if we ever need to rely on them in the future. Thank goodness for iPhones, right?
At this age they expect him to be able to at least give a few "b"s and "mmm"s, but he's always only been able to say "aaaahhh". I think he's been trying to mimic "MaMa", but he just couldn't get his mouth to close for the M. So anyway, on Saturday he did it! And he seems to be working really hard at it too. During the days he has been so much happier and more content, but during the nights, his sleep has been cray. He'll go down for sleep, but usually wake up again within 2 hours just totally inconsolable. One night we just kept feeding him so much that he projectile vomited all over Dave and the nursery. So we decided to not rush to the bottle from now on to comfort him. But unfortunately, that had us back in the swaddle...
We were supposed to up his meds one last time yesterday to a full 4 mL, but we decided he seemed to be finally leveling out at the 3 mL dose that we wanted to give him a little longer at this level before changing it on him again. Plus I wanted to ask Dr. Morita if 3.5 mL might actually be a sufficient dose for him, rather than the full 4. We'd love to keep him on as little medicine as possible, obviously.
Yesterday (Sunday, Nov. 21) was the first day since we've officially gotten his SCN8A diagnosis that someone asked us "How's he doing? Is he still having seizures?". It was a really strange moment for me. I didn't really know how to answer her. Like, yes of course he's still having seizures...he isn't going to grow out of them. But no, he hasn't had one in 3 weeks...yet we fully expect him to continue having seizures unless he's the ONE child with an SCN8A mutation who happens to grow out of them. I think I just said, "Well, we actually got an official diagnosis for him last week and he has a seizure syndrome that means he won't really ever grow out of them, but we've had good control the last few weeks and really seen him make some strides in his development."
It was just hard for me to feel like--what am I supposed to say when people ask? It's not like I can say something like he has "Down-syndrome" or "Autism" or any other spectrum-like disease that people are familiar with. It's a full 5 minute explanation that I'm pretty sure people don't genuinely want to hear. Simply because it's painful to look at sweet Bennett and hear about how normal he ISN'T and how he could be totally fine today, and very not okay tomorrow--that we just don't know. People want to hear that we've found the magic bullet and he's never going to seize again and everything's going to be fine. But guess what? Bullets don't fix things. And there is no "magic cure" for Bennett--at least not right now. I described it to Dave as feeling "separate". I said, "When she asked us that I just felt so palpably 'separate'." Isolated or lonely aren't the right emotions, I just feel like we are living this entirely separate parenting experience with our son, and literally no one around us will ever know what it feels like. They have no idea why I come across as a helicopter parent when he's playing in between the rows of chairs at church. Because they don't understand why a bonk on his head is terrifying to me. And why should they? I wouldn't wish that on anyone, honestly. I would give anything to be able to watch Bennett bonk his head and just laugh and reassure him that he's fine like other moms do. But I can't do it when I myself am worried it could send him into his next seizure. I don't want other parents to understand that line of thinking. I really don't. But then where does that leave us? It leaves us in our own separate space. I guess it's the "Parents of an SCN8A Cute Syndrome Mutant" space. And I truly don't want more people to join us there...it's a scary space to live in.
For example...
Last night I was looking up a side effect of Zonegran on the SCN8A Facebook page to see if I could find any other parents' experiences with their kids who were on it at some point, and I was so caught off guard when I came across an old post written by a father of a 10 month old who had been hospitalized for 4 days at this point. He had written the post begging other parents to reassure him that even though he had completely lost his daughter in the last 4 days, that other parents had seen their kids come back to them after such a horrific seizure sent them into a coma and took away their ability to make eye contact, communicate, move independently, smile, laugh, hold their heads up, etc. I was shocked because all of the comments were parents posting about that first time their child "lost everything" in the hospital after a status seizure. They ranged from being 6 months old to 5 or 7 years old and usually had developed typically up until this point with just minor seizures here and there until they landed in the hospital and suddenly regressed back to being an infant developmentally.
I just sat on the bed and cried. I actually told Dave I thought I was about to have a panic attack. I didn't feel like I could get a full breath. He just held me and reassured me that that may be something we have to deal with, but we'll deal with it on that day, not tonight. Tonight we were just going to deal with how to get him to sleep. I joked back and said, "I'm pretty sure you mean for the rest of our lives we're going to deal with how to get him to sleep, haha." I calmed down and didn't have a panic attack thankfully--I just realized that I have been searching all of the positive stories of recovery and hope for the last two weeks and purposefully avoiding the stories of pain and heartache because part of me is too scared to acknowledge the reality that Bennett could very well end up in the hospital like these kids and we could lose his smile and laugh again. All his progress he's making to take steps on his own. His consonants he just started to pronounce. His ability to eat solid foods. It could be taken from us in an instant if the wrong set of circumstances just happen to line up and we're unable to intervene quickly enough. It felt like too much to bear last night. And honestly, it still is. The only thing I can do is just take videos and pictures of him and hope they're enough if we ever need to rely on them in the future. Thank goodness for iPhones, right?
Tuesday, November 14, 2017
11.14.17 Week 3 on Zonegran
Well, we have upped Bennett's Zonegran to 3 ml of compounded liquid a day now (started 2.5 weeks ago) and we feel like we're almost back in the Keppra days! The first night he was up from about 2:30-6:00am and then just awake for the day after that. The second night he did much better and slept through after his midnight wake-up. But during the days he has just been screaming and crying, so clingy, and only wanting to stand. I can't leave him anywhere alone and I can't even really set him down without a total meltdown. This wouldn't be such a big deal except for the fact that I contract literally every time I bend over, pick him up, or crouch down. And the contractions are getting painful at just 24 weeks, unfortunately. Looking at 16 more weeks of this is daunting...
We reallyyyyy hope this is just the adjustment period for the Zonegran because we cannot live like this again. Now that we've had our happy Bennett back for a while, I don't think we'll ever be able to go back to the Bennett who's upset all day long for no apparent reason. Ibuprofen isn't even helping this time so we're pretty sure it's not just teething. I almost think he's just completely exhausted...like too tired to function. But of course he's so tired that he's having a hard time self-regulating to sleep. Had to bring out the good ole swaddle again this week...(please no one report me to DCFS, I realize this is not a super safe sleep habit at his age, but there is literally NOTHING else that gets him to sleep--and we check on him regularly with the video monitor).
Luckily, he hasn't had a seizure since the day we started the Zonegran, so at least we're seeing control. But once we wean the Phenobarbital that'll be the real test. Pheno just controls the seizures SO well, but we can't keep him on it knowing it is causing developmental delays and cognitive slowing. Apparently Zonegran can do that to some kids too, though, so I don't know what we're supposed to do.
The first step is to get to the therapeutic level of Zonegran on Sunday (today's Tuesday), then we meet with Dr. Morita on Wednesday to talk about treatment plan and starting the Pheno wean, then we watch to see if Zonegran can control his seizures alone. If it doesn't, I wanted to try Lamictal next because I take it for mood stabilization and have had no noticeable side effects, so I figured we might as well give it a shot for Bennett. But after reading more about SCN8A, Trileptal seems to be a miracle drug for a LOT of kids, plus we will be candidates for medical CBD with THC at that point, so we'll probably get started on that. It's supposed to really help sleep issues and counteract the cognitive issues as well. I wish we could get him on it sooner, but it's quite a process to obtain it legally here in Utah.
Overall we're just feeling a little nervous that the Zonegran may be introducing side effects we can't handle right now an we would hate to have to start over weaning and titrating another medicine...it's like a never ending cycle of trial and error!
This was how upset he was because I had to take a shower for 5 minutes this morning...:( His little wipe of his eyes! So exasperated, haha.
We reallyyyyy hope this is just the adjustment period for the Zonegran because we cannot live like this again. Now that we've had our happy Bennett back for a while, I don't think we'll ever be able to go back to the Bennett who's upset all day long for no apparent reason. Ibuprofen isn't even helping this time so we're pretty sure it's not just teething. I almost think he's just completely exhausted...like too tired to function. But of course he's so tired that he's having a hard time self-regulating to sleep. Had to bring out the good ole swaddle again this week...(please no one report me to DCFS, I realize this is not a super safe sleep habit at his age, but there is literally NOTHING else that gets him to sleep--and we check on him regularly with the video monitor).
Luckily, he hasn't had a seizure since the day we started the Zonegran, so at least we're seeing control. But once we wean the Phenobarbital that'll be the real test. Pheno just controls the seizures SO well, but we can't keep him on it knowing it is causing developmental delays and cognitive slowing. Apparently Zonegran can do that to some kids too, though, so I don't know what we're supposed to do.
The first step is to get to the therapeutic level of Zonegran on Sunday (today's Tuesday), then we meet with Dr. Morita on Wednesday to talk about treatment plan and starting the Pheno wean, then we watch to see if Zonegran can control his seizures alone. If it doesn't, I wanted to try Lamictal next because I take it for mood stabilization and have had no noticeable side effects, so I figured we might as well give it a shot for Bennett. But after reading more about SCN8A, Trileptal seems to be a miracle drug for a LOT of kids, plus we will be candidates for medical CBD with THC at that point, so we'll probably get started on that. It's supposed to really help sleep issues and counteract the cognitive issues as well. I wish we could get him on it sooner, but it's quite a process to obtain it legally here in Utah.
Overall we're just feeling a little nervous that the Zonegran may be introducing side effects we can't handle right now an we would hate to have to start over weaning and titrating another medicine...it's like a never ending cycle of trial and error!
This was how upset he was because I had to take a shower for 5 minutes this morning...:( His little wipe of his eyes! So exasperated, haha.
Friday, November 10, 2017
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...
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.
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...
**************
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.
*************
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.
**********
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.
Tuesday, November 7, 2017
11.7.17 Seizure and Starting Zonegran
Just days after our last appt. with Dr. Morita and before we had time to even schedule a nocturnal EEG Bennett had another of those back to back tonic-clonic seizures. Luckily it was Saturday morning so Dave was around when it started and came and got me. It happened on 10/28 at 8:15 am and he didn't stop until after 8 minutes, and didn't come to for another 30 or so. Once he finally woke up he was SO upset, it was crazy. He was completely inconsolable. The only thing we could do to stop his screaming was get him in the bath for a few minutes. Then we were finally able to feed him a bottle and he took some good naps and the rest of the day was fine.
Dave and I were pretty sad and disappointed that he had a seizure because he'd been off the Keppra for two weeks at this point and we hadn't seen any, so we were hopeful that he maybe wasn't going to seize again. We both felt like we were finally at the point where we weren't watching and waiting every second of every day for his next seizure, and after this one we went right back to that :(. On the other hand, we were pretty sure that this meant he was still having seizures and we didn't necessarily need to do a nocturnal EEG anymore, which is great because that was going to be quite an ordeal for all of us. Since it was the weekend and we knew we wouldn't be able to get ahold of Dr. Morita until Monday, we decided on our own to start him on the Zonegran (Zonisamide actually) the next night. I wanted to wait 24 hours at least because I wanted to be able to identify if he had any regressions in his development or skills after the seizure, and didn't want to attribute it to the medication if it wasn't because of it.
We were both pretty nervous to start this new medicine--I think to say we've been a little traumatized from the whole Keppra ordeal would be an understatement. Our biggest fear is that we'll start to lose Bennett again (his personality, his cognitive development, motor skills, etc.) when we've seen such humongous progress lately and are feeling really hopeful about his prognosis. We started on 10.29.17 with a compounded liquid formula that insurance won't cover, but will be significantly easier to administer, so we feel like it's worth it. We are supposed to start with 1 mL the first week and increase by 1 mL each week until hitting the therapeutic dose at 4 mL/day.
It's been a little over a week now and I'm relieved to report that we have been pleasantly surprised by the effects of the Zonegran! The first night he took it he slept better than he has in months. He only woke up once through the night which was heaven, and he didn't wake up screaming bloody murder like he had been doing lately. It was really only just yesterday I realized that whenever I've watched him on the monitor this week he hasn't been twitching--at all. When we came off the Keppra I was noticing twitching almost constantly throughout the night, and then there was always that 1:30 am wake up where it looked more seizure-like. I wonder if the Zonegran is actually stopping nocturnal seizure activity and that's why he's finally sleeping better. I guess we'll never know since we didn't get the EEG before starting the medicine, but it is NOT worth taking him off now to see if the twitches come back. I'm pretty convinced he was having some kind of myoclonic activity, just because he sleeps so much deeper and sounder than we've ever seen. He actually wakes up happy about 50% of the time too! He's NEVER done that!
Every time I go in and see him smile at me and be happy to be awake I just feel like it's another one of those things about parenthood that everyone takes for granted unless they don't have it. I didn't even realize how big of a difference it makes to have your baby smile at you when you walk in the nursery rather than scream and cry nonstop. But...it makes a big difference--to say the least.
In addition to feeling like the medicine has helped his sleep and improved his mood a lot, our other success this week with Bennett was that in the car last weekend we were asking him to wave (we've been trying for months with no response) and he actually did it!!! He was intentionally imitating us! Dave and I both just cried again when we saw him waving at us over and over again. Just these little things we've been too afraid to hope for, so when they surprise us, the joy and relief is a little overwhelming.
I've had a resurgence of my nausea from the Hyperemesis Gravidarium this week, unfortunately, so it has been a huge blessing that Bennett has been in such good spirits. He's able to play independently on the floor while I lie on the couch watching him, which is so helpful when I feel too sick to move. We upped his dose 2 days ago and if anything he just seems happier so we're crossing our fingers this keeps up and he remains seizure free! We're feeling pretty happy with his progress right now and are just loving having a smiley baby who actually wants to interact with us and other people. It's so nice to see the flicker of a smile at people in the store who smile at him. It's kind of a funny experience actually, to feel like these strangers have no idea how happy it makes me every time I see him make eye contact and smile at them. They just think he's a normal baby and smiling is something he does without thinking. They have no idea that there was a time I was worried he would never learn to smile back at people, and how reassuring it is to watch him enjoy the interaction. I guess it just goes to show that you never know what battles people are fighting, so it's always best to be kind and supportive. I hope I continue to remember that even if we make it out of the woods with Bennett and get to a stable place of "normalcy" with him. Kindness and support from family, friends, and strangers have made all the difference since this all started. And that feels like the greatest understatement of the century.
Dave and I were pretty sad and disappointed that he had a seizure because he'd been off the Keppra for two weeks at this point and we hadn't seen any, so we were hopeful that he maybe wasn't going to seize again. We both felt like we were finally at the point where we weren't watching and waiting every second of every day for his next seizure, and after this one we went right back to that :(. On the other hand, we were pretty sure that this meant he was still having seizures and we didn't necessarily need to do a nocturnal EEG anymore, which is great because that was going to be quite an ordeal for all of us. Since it was the weekend and we knew we wouldn't be able to get ahold of Dr. Morita until Monday, we decided on our own to start him on the Zonegran (Zonisamide actually) the next night. I wanted to wait 24 hours at least because I wanted to be able to identify if he had any regressions in his development or skills after the seizure, and didn't want to attribute it to the medication if it wasn't because of it.
We were both pretty nervous to start this new medicine--I think to say we've been a little traumatized from the whole Keppra ordeal would be an understatement. Our biggest fear is that we'll start to lose Bennett again (his personality, his cognitive development, motor skills, etc.) when we've seen such humongous progress lately and are feeling really hopeful about his prognosis. We started on 10.29.17 with a compounded liquid formula that insurance won't cover, but will be significantly easier to administer, so we feel like it's worth it. We are supposed to start with 1 mL the first week and increase by 1 mL each week until hitting the therapeutic dose at 4 mL/day.
It's been a little over a week now and I'm relieved to report that we have been pleasantly surprised by the effects of the Zonegran! The first night he took it he slept better than he has in months. He only woke up once through the night which was heaven, and he didn't wake up screaming bloody murder like he had been doing lately. It was really only just yesterday I realized that whenever I've watched him on the monitor this week he hasn't been twitching--at all. When we came off the Keppra I was noticing twitching almost constantly throughout the night, and then there was always that 1:30 am wake up where it looked more seizure-like. I wonder if the Zonegran is actually stopping nocturnal seizure activity and that's why he's finally sleeping better. I guess we'll never know since we didn't get the EEG before starting the medicine, but it is NOT worth taking him off now to see if the twitches come back. I'm pretty convinced he was having some kind of myoclonic activity, just because he sleeps so much deeper and sounder than we've ever seen. He actually wakes up happy about 50% of the time too! He's NEVER done that!
Every time I go in and see him smile at me and be happy to be awake I just feel like it's another one of those things about parenthood that everyone takes for granted unless they don't have it. I didn't even realize how big of a difference it makes to have your baby smile at you when you walk in the nursery rather than scream and cry nonstop. But...it makes a big difference--to say the least.
In addition to feeling like the medicine has helped his sleep and improved his mood a lot, our other success this week with Bennett was that in the car last weekend we were asking him to wave (we've been trying for months with no response) and he actually did it!!! He was intentionally imitating us! Dave and I both just cried again when we saw him waving at us over and over again. Just these little things we've been too afraid to hope for, so when they surprise us, the joy and relief is a little overwhelming.
I've had a resurgence of my nausea from the Hyperemesis Gravidarium this week, unfortunately, so it has been a huge blessing that Bennett has been in such good spirits. He's able to play independently on the floor while I lie on the couch watching him, which is so helpful when I feel too sick to move. We upped his dose 2 days ago and if anything he just seems happier so we're crossing our fingers this keeps up and he remains seizure free! We're feeling pretty happy with his progress right now and are just loving having a smiley baby who actually wants to interact with us and other people. It's so nice to see the flicker of a smile at people in the store who smile at him. It's kind of a funny experience actually, to feel like these strangers have no idea how happy it makes me every time I see him make eye contact and smile at them. They just think he's a normal baby and smiling is something he does without thinking. They have no idea that there was a time I was worried he would never learn to smile back at people, and how reassuring it is to watch him enjoy the interaction. I guess it just goes to show that you never know what battles people are fighting, so it's always best to be kind and supportive. I hope I continue to remember that even if we make it out of the woods with Bennett and get to a stable place of "normalcy" with him. Kindness and support from family, friends, and strangers have made all the difference since this all started. And that feels like the greatest understatement of the century.
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