Kaleb just had breakthrough seizures this morning in the form of spasms.
Kaleb was initially on Orapred (oral dose prednisolone) for three days after his diagnosis. A different form of the same drug, injectable methylprednisolone, is responsible for the meningitis outbreak from the now-shutdown NECC pharmacy on the east coast.
The word we’ve been praying for is finally here! We finally have the results of Kaleb’s EEG from Tuesday and they’re NORMAL! We are beyond thrilled that God has led us to this important milestone! But we will have to continue to be on Sabril for 6 months and monitor him closely.
Thank you SO much everyone for your love and support and prayers! They mean everything to us! Special thanks to the grandparents, extended family, D&M, Gemini, A&N, and HI nesties. We love all you guys so much! We continue to pray that the seizures and hypsarrhythmia will stay away.
Today, at noon, was Kaleb’s last ACTH shot. It’s not a great time for Kaleb to have just weaned off of ACTH because we’re now in flu season and his immune system is more compromised than ever. So as a result, we have some stringent requirements from our doctor to keep visitors at bay and for anyone who visits to have their flu shots (it takes 2 weeks for the immunity to build up after the shot). Visitors should also be feeling 100% and not have been in contact with any sick person in the last 72hrs. The grandparents have all gotten their shots and are being very careful as well.
Kaleb has very disrupted sleep now (VGB side effect), always up in the middle of the night, squealing and displaying all sorts of hyperactivity when we can barely keep our eyes open. Then he won’t go back to sleep until his morning nap at 9am. It’s like the newborn phase all over again (except he doesn’t need/want to be fed so there’s nothing we can do to get him back to sleep), but it’ll be worth it if the seizures stay away.
Speaking of seizures, he’s been doing well since our dose increase on Saturday. He’s gotten exceptionally good at storing the Sabril (dispensed in liquid form via an oral syringe) in the pockets of his newly-obtained chipmunk cheeks (thanks to ACTH), then doing a mini swallow to fake me out, only to spit it all out with the hugest grin on his face (“Haha, gotcha Mom!”). It’s kind of funny/cute, except it’s worrisome that he’s not getting the entire dosage that he needs and it’s hard to remeasure because I can’t tell exactly how much he dribbled out. I miss the ease of dosing with the ACTH shots now…
Kaleb also had his first PT evaluation yesterday. We actually held off originally due to his compromised immune system, but at the recommendation of our neurologist *and* pediatrician, we agreed. To our satisfaction, the session was in a private room and they adhered to strict health/sanitation guidelines as they often work with preemies and immune-compromised kids. So after our evaluation, we agreed to do weekly sessions, as Kaleb needed it. He is (now, after regressing a second time during the ACTH wean/VGB transition) developmentally around 4-5 months old at 7 months of age. I can’t believe it’s been a month and a half since his diagnosis. The emotions of dealing with it still feels so recent–maybe not like yesterday, but like the week before.
We hope he continues to keep it up…the hope, the strength, the progress, and the healing. Thanks so much everyone for the continued thoughts & prayers.
Kaleb is a strong boy…too strong, perhaps. Everytime something seems to be working, he somehow adapts to it. So today, following a spasm and a head drop, we increased his Sabril dosage to 500mg in the morning too. It’s still considered low dose, so we have some room for the titration. In the meantime, we will see if the latest increase works and hopefully find the perfect dose that will stop his seizures with the least possible long term risk to his vision.
Yesterday, Kaleb smiled for the first time since we’ve started weaning ACTH. Today, the first day he went without a shot, he even laughed once. What’s better than no seizures is seeing his signature smile. Kaleb smiled so early and so much. And everyone loved his single right dimple when he smiled.
There are really rough days and then there are okay days. There are days where I try to do mindless things to take my mind off of the “elephant in the room” but it constantly lingers in the back of my mind. We never take our eyes off of him or leave his side. Every sudden move makes us jump, questioning whether it was a muted seizure of some sort or just another random baby movement. Thinking about our life before September 5 always makes me cry. We were so blissfully happy then and we didn’t even know it.
But seeing Kaleb’s beautiful smile brings back a glimmer of that joy from the past. Life will never be the same again, but at least we can hope to be at least as happy as we were then, with a new outlook on life and an adjustment to our new normal. This past week was so emotionally difficult…I hope I never have to miss his smiles again.
We haven’t noticed any head drops. Kaleb is still on a relatively low dose (for IS applications). The low dose start is intended to allow longer term use than typical steroid medications. Hopefully Kaleb can dodge the spasms by taking Sabril and grow/develop out of this phase. Most IS stops by 1 year, though more rare cases can run to two years. Sabril has certainly made him appear doped up compared to his usual bouncy self.
We’re seeing a lot of head drops recently. It’s the scary transitioning period where we’re weaning off ACTH while titrating for the right dose of VGB that will work for Kaleb…or not work at all. He’s been very angry, barely sleeping at night–screaming instead, then just nursing and sleeping all the time during the day. We can’t squeeze in any Mommy & Me PT time or Daddy & Me reading time or much playing time or talking & singing time, since he just screams whenever he’s not nursing or sleeping. This is the rough infamous weaning period. Also a common time for seizures to come back, especially with symptomatic cases like Kaleb’s.
In the meantime, we’re just talking it slowly, trying to do all we can, continuously researching, discussing the next steps and sometimes feeling a bit helpless as we’re just watching and waiting for the VGB (with the dosage increase last night) to kick in. And praying and hoping…
The other possibilities that are generally out there and more or less popular for IS patients who are refractory to ACTH, vigabatrin, and prednisone:
1) Ketogenic diet
2) Various benzodiazepines
3) Surgical ‘resection’
We’ve steered clear of the ketogenic diet mainly because the research available wasn’t sufficient to make it a recommended treatment in this summer’s AAN research review and evidence-based guideline for treating IS. It didn’t show up as second or third line treatment. There simply wasn’t enough research of an appropriate size and type to categorize it as a top line treatment. Primarily because of this, we’ve identified it as an option if both ACTH and vigabatrin fail to contain Kaleb’s spasms and hypsarrythmia.
Secondly, in reading what we considered the top quality research in the ketogenic diet field (Johns Hopkins), we noticed that the metrics they generally use for success emphasize different outcome classifications than most studies of ACTH, prednisone and vigabatrin. They discuss seizure/spasm ‘reduction’ and produce a few results which appear to be based upon some fraction of participants experiencing a ‘significant’ reduction in seizures/spasms. Most of the studies relating to ACTH and vigabatrin, however, report results in terms of ‘seizure and hypsarrythmia free’. When looking at the ketogenic diet results, ‘seizure free’ accounted for a much smaller fraction of patients that we initially expected from reviewing abstracts.
Thirdly, nursing is really our only available tool in providing Kaleb with sleep and comfort. Without nursing, Kaleb would get very little sleep and be constantly enervated and inconsolable. If the efficacy of the ketogenic diet were clear and compelling, we’d make that sacrifice in a heartbeat.
One of the two IS experts at Stanford treats with the sequence ACTH, ketogenic diet, and then a benzodiazepine. Ketogenic diet may be our next step if vigabatrin (Sabril) doesn’t control Kaleb’s hypsarrythmia.
We have been operating on the belief/theory that these spasms and hypsarrythmia are incredibly harmful to Kaleb and his developmental capacity. Our first and topmost priority is to stop the spasms and normalize his brain waves. ACTH and vigabatrin both produce results relatively quickly and in Kaleb’s case, prednisone brought apparent initial complete cessation of spasms within hours. There’s really no way we could have considered risking that relatively high level of success based upon the ketogenic diet research available.
We also thought we had licked Kaleb’s spasms early on. Going from 100-200 seizures per day to none or a very few per week made it seem like we were clearly on the right track. If Kaleb was having seizures that we simply couldn’t identify, this could be much uglier, but it’s possible that he’s having seizures that are impossible to detect through activity or even through surface brain waves (the limit of EEG capability).
Drugs like Keppra are used a lot for IS, but studies available also didn’t convince the AAN reviewers that they should be included in front line treatments of IS. They’re also generally used as ‘in addition’ drugs alongside a front line treatment like ACTH/vigabatrin. Kaleb was switched between two different benzodiazepines early on (Clonazepam and Clobazam). The Clonazepam had two days operating alone and failed to do anything but possibly dampen Kaleb’s spasms slightly. The prednisone that was started on day three of treatment alongside the switch to Clobazam showed a staggering reduction in spasms (and we honestly thought, brought him to ‘seizure free’).
This requires clear identification of the source of spasms and hypsarrythmia. The seizures generated by IS are unusual in that they build up so quickly that often even a highly time resolved EEG can’t isolate the location of the seed that foments the instability. By conventional standards, Kaleb is not a surgical candidate. Kaleb would have to be evaluated by a more aggressive surgical IS treatment center for more options, but it’s likely that there’s just no surgical option at all. There is one group we would likely see about this if no medication works. Before doing that, we’d probably try the ketogenic diet and take another stab at prednisone and ACTH (we’ve seen reports where a second treatment works after a first one failed).
We had roughly three principles (identified after the fact) in choosing Kaleb’s regimen:
1) Our approach to treatment had to be as scientifically rigorous as possible in order to give Kaleb the best fighting chance our brains could offer.
2) We needed to safeguard Kaleb’s brain and development for the limited time during which infantile spasms generally occur (though they can continue up to 24 months in age!). It’s the seizures that have an enormously negative outcome, not the underlying causes (for symptomatic cases). A whole lot of people have brain damage much worse than Kaleb’s and function just fine.
3) We wanted to take our best shot at ‘nipping it in the bud’ since we caught the spasms so early. That meant aggressive treatment with the medication most likely to provide cessation of spasms and eradication of hypsarrythmia, hence ACTH.
Kaleb is in an “even more unusual situation” in that he presented no indications of neurological problems prior to onset of infantile spasms. In fact, the first neurologist to see him had just cleared him of any obvious neurological issues when Kaleb’s first full spasms episode occurred. To make things even crazier, Kaleb *still* manages to avoid regression amidst all of this, though we drill him pretty constantly. Effectively, he is treading water right now and we need him to swim.
If we can stop the spasms and hypsarrythmia, Kaleb will do very well!
Eventful day today. First, we were informed that Kaleb’s stool sample was positive for blood, one of the more concerning side effects of ACTH is gastrointestinal bleeding. But since we’re weaning ACTH already anyway (we can’t stop immediately or he’ll go into adrenal crisis), we’re already on the right path in terms of taking care of that. Kaleb also got an increase in his prescription for Zantac to help with that as well.
But the bigger news is that we’re starting VGB (Vigabatrin aka Sabril) today. Yesterday, we took him to a pediatric ophthalmologist to get a baseline for his eyes and vision before starting it. We will need to follow up again in 3 months to check if he has any vision loss from the drug. So far, his eyes are perfect, other then a common slight astigmatism. So we pray for the best as we continue to wean off ACTH while waiting for the VGB to kick in. At least we will soon be off the needles (Kaleb is really getting fussier about them–"Haven’t you poked me enough already?!?"), as VGB is dispensed orally. Please pray for us/wish us the best!