I’ve re-written this several times over. I was going to write a 45-46 week update, but it was just all about seizures because, well, that seems to dominate our thoughts now. So I thought, well, maybe I should just write about seizures first and update y’all later.
I told Brian, “I think every seizure she has during a day diminishes my emotional/mental capacity by 5-10%.”
So, on some days like yesterday — when she had only one — I felt pretty okay.
But on days like Friday — when she had 7 total — I was pretty drained by the end of the day. Which is probably why feeling alone was a pretty big topic on my mind when I sat down to write last week.
How can I explain our new reality?
I guess the best way might be with a little bit of story and a lot of science (with plenty of links). So that’s what this post will be.
I’m putting this post together in part, because I know some people will — thankfully — never have to experience seizures personally but will still want to know more about them as well as what it’s like for families like ours. But also, I wanted to put this together so that if Eloise’s seizures ever stop or change, we’ll have record of what it was like.
And, well, if you’re reading this and your kiddo also has seizures, then you probably know way more than I do. And if we’re missing anything or it looks like we’re heading in the wrong direction, then I’d love for you to reach out to me.
That being said, a lot of it will just be basic info on seizures, though, so feel free to skip whatever is boring to you.
How I’ve learned about seizures
A few people have asked what a seizure looks like for Eloise and whether they are infantile spasms or seizures.
Good question.
I wish I could answer confidently because our doctor has given us booklets and websites full of information. But that’s not what’s happened.
Everything I’ve learned so far has come from three sources:
- Bits and pieces I’m starting to pick up from other parents whose kiddos have seizures
- A bit of googling
- Watching Eloise have a lot of seizures
Which means my assumptions, at least on types of seizures and their impact, may be completely wrong.
Her type of seizures
My best guess, from information gathering and googling, is that Eloise is having cluster seizures (more than 1 seizure in 24 hours), specifically focal seizures (it’s also possible it may be absence seizures). Although the very long seizure she had in the hospital that was 40 minutes was a focal seizure that became a tonic-clonic (grand mal) seizure.
From what I can tell, Eloise has never had infantile spasms (IS) because she hasn’t ever had clusters of muscle spasms that often get diagnosed as IS.
So back to the type of seizures I think she has.
Focal seizures involve only one side of the brain and, I just learned, mean Eloise is at least partially conscious during them. This would make sense if we look at the EEG she had in early November when we went to the hospital. The doctor said her EEG showed epileptic activity on only the left side of her brain, which corresponds to focal seizures. (Absence seizures, unlike focal seizures, involve the entire brain so I am guessing that is not what she is having.)
If you want to know more about types of seizures, here’s some great youtube explanations on focal (partial) seizures and seizures that involve the whole brain (generalized).
Just in case someone is reading this knows about seizures, though, feel free to correct any and all of my assumptions.
Our seizure routine
Brian and I, since we’re both at home together, have quickly developed a set of steps we do when Eloise has a seizure.
- Notice breathing change Our first indication that Eloise is having a seizure is often the sound of her breathing. Brian and I have gotten to the point where we can hear the subtle change and know an episode has begun.
- Note the time The person with Eloise immediately looks at their watch to see what time the seizure started. Brian will also send me a text message to give us a timestamp, especially if he’s alone or on the other side of the house.
- Call for the other partner At that point, whoever is with her — Brian or I — calls for the other so they can be ready, just in case.
- Watch for signs of vomit coming Every 4-5 seizures, Eloise’s tiny body will expel a whole bunch of food through her nose and mouth. Sometimes that’s actually what happens right before the seizure starts. Sometimes it happens partway through. Regardless, it can get really really messy so we’re ready with some sort of bib or cloth to catch what comes.
- Be ready to get rescue meds Brian and I both watch Eloise and glance at our watches as the seizure happens. Normally the seizure is over in 30-90 seconds. But on the rare occasion that it goes on for longer, the partner not with Eloise goes to get the rescue medication (it’s a tube of liquid diazepam to be put into her bum) to give to her.
- Note when it’s over Once Eloise snaps out of her seizure, Brian usually sends me a text message or I add it to our baby tracker app with notes on what was happening when it occurred.
If the seizure was particularly “bad” then Eloise will fall asleep immediately afterwards for anywhere from 15-90 minutes. Normally, in a single day she won’t have more than 1-2 seizures that are so tiring that she goes to sleep afterwards. If we’re lucky, none of the seizures will put her to sleep at all.
A video of one of her seizures
Seizures sound scary, and most of us imagine arms and legs jerking back and forth. But that’s not what the type of seizures Eloise has regularly looks like.
If you’re curious, I’m adding a video below of one of Eloise’s seizure episodes. Please feel free to skip it, though, especially if you think you might feel distressed. Another option is to just look at this youtube video of someone acting out what a focal seizure looks like.
How damaging are her seizures?
This is a question I really wish I had a very clear answer to. I have three conflicting sets of resources, which makes it especially hard to figure out what Eloise’s truth will be.
What google says about seizures and brain damage.
If you google, “Do seizures cause brain damage?” basically everything that comes up says “no.” Unless they go on past 5 minutes. Or 15 minutes. Or 30 minutes. (It depends on what source you’re reading.)
Relieving — since Eloise has only had 1 seizure longer than 30 minutes, and only 4 longer than 5 minutes.
But when, at some point, I googled something around recurring seizures in infants, though, an article (which I can no longer find) actually said that recurrent seizures may cause long lasting brain damage.
Not so relieving.
What my observations say about seizures and damage / regressions
I’ve seen and talked to maybe a dozen or so parents (with kids that have similar deletions to Eloise) whose kiddos struggle with seizures.
Over and over, the kiddos seemed to be doing pretty okay developmentally until the seizures hit. After that, it seems that, for all but one case I know of, their gross motor skills and maybe even cognitive development completely stopped. Many many years later, these kids are in wheelchairs, are fed via feeding tube, and, hardest for me to emotionally imagine, struggle to stay alert for long periods of time. I’ve seen a few cases where kids lost quite a few major skills — like the ability to eat or grasp objects — after a particularly bad seizure episode.
Which, of course, makes me feel some worry.
What research says about seizures and damage / regressions
As far as we can tell, Eloise is missing 3 full genes that are related to seizures. And, we just found out, she’s also missing a small portion of a very important gene that causes even more problems and complications in relation to seizures.
Sodium channels and their relation to development / seizures
For anyone curious, Eloise’s deletion is from 166,015,395 – 185,131,531. That means she still has most of her sodium channels intact, but not all.
Sodium channels are a group of genes that are quite important for the brain to function and happen to be located on the long arm of chromosome 2. (You can watch more about what sodium channels are on this youtube video here.)
The most important and impactful of these sodium channels seems to be a gene called SCN1A. Until recently, I thought Eloise’s SCN1A genes were left untouched. Friday, though, I discovered Eloise is actually missing a small portion of one of her copies of SCN1A. Which may mean that her seizures will be particularly hard, or maybe impossible to treat. (SCN1A is the gene associated with Dravet Syndrome, if you’ve ever heard of that.)
When we plot out what genes are included in her deletion, we learn that Eloise is missing sodium channels SCN7A and SCN9A on top of a tiny bit of SCN1A.
- SCN1A lies at 165,984,640-166,149,160
- SCN9A lies at 166,195,184-166,375,986
- SCN7A/SCN6A lies at 166,403,572-166,494,263
More genes related to seizures / development
However, multiple genes are likely contributing. There were 2 other missing genes that specifically mentioned seizures and may be part of the root:
- SLC25A12 lies at 171,783,404-171,894,243
- DEE89/GAD1 lies at 170,813,209-170,861,150
Some pretty gloomy quotes from the links to a few of these genes:
“The patient was noted to have global developmental delay at about 5 months of age. She began having seizures at age 7 months, and thereafter had essentially no further development.” (SLC25A12)
“Detailed case descriptions revealed that the patients had profound developmental delay sometimes with regression, poor or absent visual contact, absent speech, poor head control, inability to sit or walk due to spastic quadriparesis, impaired gross and fine motor skills, and poor overall growth.” (DEE89/GAD1)
So will her seizures affect her development or bring more damage or regression?
I don’t know.
Maybe she’ll remain unaffected.
Maybe her seizures will stay these super short focal seizures that come just when she’s teething or has some sort of virus (which has basically been nearly all of her November and December). Maybe they will be more of an annoyance than a problem.
Or maybe she won’t.
Maybe she’ll stop developing. Maybe the seizures, especially the bad ones that come with illness, will cause regressions. Maybe her seizures will get worse and cause even more damage as we struggle to control them.
Or maybe by some sort of miracle we might find a way to control them (one family has found great success controlling their son’s seizures with a ketogenic diet).
Or radically accept them (one family has just accepted seizures are a part of their daughter’s life and take no medications).
Or stop them coming most of the time (a few other families work very hard on building up their kids’ immune systems to stop illnesses from coming and triggering seizures in the first place).
Her seizures so far
More for myself than for anyone, I wanted to count up her seizures so far. Because it’s felt like it’s been nonstop, but I wanted to test that assumption
- Oct 3: First seizure ever (as first 2 teeth came in)
- Nov 6: 4 seizures (we went to the hospital, the first three were focal and lasted around 8 minutes, the final one started as focal and ended up tonic-clonic and lasted 40 minutes — all a day before her 3rd tooth came in)
- Nov 10: Started on a small dose of Keppra
- Nov 13: 2 focal seizures
- Nov 15: first day of full dose of Keppra
- Nov 17: 1 seizure (12 minutes long, we used diazepam to stop it, and it was the night before her norovirus symptoms appeared)
- Nov 24: 1 focal seizure (right before her 4th tooth came in)
- Dec 4: 4 focal seizures (the next day she had a temperature and started vomiting)
- Dec 5: 4 focal seizures
- Dec 7: 1 focal seizure
- Dec 8: 3 focal seizures
- Dec 9: 6 focal seizures
- Dec 10: 5 focal seizures
- Dec 12: 2 focal seizures
- Dec 13: 2 focal seizures
- Dec 14: 1 focal seizure
- Dec 14: (evening) started on higher dose of Keppra
- Dec 16: 4 focal seizures
- Dec 17: 7 focal seizures
- Dec 18: 1 focal seizure
Right now she’s still vomiting more than usual and has a low-grade temperature from time to time (a little over 37C/98.6F). So I’m assuming she’s been sick since December 4th.
Plus, she definitely has at least another tooth coming in.
So, I was right in that it’s been pretty non-stop since December 4th. But wrong in that, before that date, she’d only had 4 seizures since coming home from the hospital.
Our plan
Right now it’s hard to know if the medication Eloise is on (Keppra) is helping her or making things worse. Apparently the bloodwork they took at the hospital showed her keppra levels were too low so they increased her dosage earlier this week.
I know that Keppra has definitely helped some kids like Eloise who had only occasional seizures. But for kids that have had a lot more seizures, I’m not as sure that it’s helped. In at least one case, it’s made seizures worse.
It’s hard for me to know if Eloise is just having seizures because she’s ill and/or teething, or if the medications are making things worse.
Are 7 seizures in a day completely normal if they are several hours apart and she might also be a little sick? Or is this maybe the medication making things worse?
Eloise’s doctor will follow up with her in mid January and then do an EEG to see if her brain activity has changed at all due to the Keppra. They would have done it earlier but the holidays got in the way.
If I was 100% positive her seizures weren’t harming her and were “normal” because she’s just sick, then I would happily just wait until we see the doctor again in January. But I’m not 100% positive.
So Brian and I will just have to do what we always do. Talk it out. Weigh our options. And decide, as best we can with our gut intuition and the information we have available, what may be our best next steps.
The up side to seizures
Is there an up side to seizures? I still remember that thought I had a few weeks ago during prayer that maybe Eloise has a little heavenly visitation every time one happens. It brings a little comfort.
But, really, more than anything, it just makes us value her non-seizure days or hours or giggles all the more. Because she still melts our heart over and over every single day.
Y’all can just pray and send your good thoughts when you think of us.
Cause this little munchkin is so cute. We want to do everything in our power to make sure she’s okay.
Hugs from all of us,
Mallory, Brian, and precious little Eloise
(Cover image from @hannaodras)
Eloise The Tiny Fighter 