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!
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