We always expected that Eloise’s 16 day seizure-free streak was only temporary. What we did not expect, however, is that her seizures would come back and almost immediately send us back to the hospital.
But, well, that’s what happened.
Please forgive me for this very detailed update. I thought it might be something we’d want to review later or, if other parents have a little one with the same deletion, then this information might help them, too. So feel free to skip around.
The day we went to the hospital
I wasn’t super worried on Monday after Eloise had her first few seizures, but then it appeared that soon after she woke up, she soon had a seizure and fell back to sleep again — which made it nearly impossible to feed her. The trend continued into Tuesday when Brian and Eloise went to her already scheduled outpatient hospital visit for a morning of doctor and specialist visits and tests. Eloise slept almost the entire time and had a further 2 seizures while they were there. When Brian mentioned to the doctor his concern, she didn’t seem worried.
Well. Less than 4 hours after Brian and Eloise got home, we had to call an ambulance. She woke up from her nap and had 3 seizures in under 15 minutes. The final one just never ended, even after we gave her a rescue medication diazepam and even paracetamol to reduce her fever.
Thankfully, once we reached the hospital, the doctors on call got her seizure to stop with a medication. A medication almost identical to the rescue medication we gave her at home.
Later I found out we could have actually given her 2 doses of diazepam (it’s the rescue medication meant to stop a long seizure) 15 minutes apart if her seizure isn’t stopping. I wish we would have known that on Tuesday. But, for now, it’s good to know for the future.
The final seizure lasted over an hour. I really was afraid we might lose her.
Our hospital visit
I won’t recap everything here. The easiest way to do a review is just to add screenshots of Eloise’s instagram stories I kept updated. If you are curious, you can read her story that way.
What we learned at her outpatient visit
Her eyes
Brian and Eloise made a little trip to the eye doctor during her outpatient visit on TUesday. Thankfully, this time Eloise was far more cooperative than the last time. Yes, her eyes are still out of sync and moving a little independently, but the doctor didn’t seem to be too worried about that. Of more concern is that it appears Eloise already has some slight struggles seeing things far away. We already expected that as it seems consistent that kids like Eloise get fitted for glasses early on, and then refuse to wear them. 🤣
Eloise’s development
I hadn’t realized until this week that Eloise’s development was assessed during our last hospital visit. She was said to be at the lower end of a 3-month-old and I think that’s about right. She’s probably still around the same age developmentally.
Medicines and her EEG
Considering Monday and Tuesday Eloise could hardly stay awake before she had another seizure, it seemed clear to us and the doctor that the medication Eloise has been taking, 90mg of Keppra twice a day, had not been working. While Brian and Eloise were visiting on Tuesday, the doctor scheduled a 30-minute EEG on Wednesday. After she was hospitalized, the doctor decided to make her Wednesday EEG a 2-hour test, instead — we were already going to be staying in the hospital anyway.
For reasons unknown to us, Eloise’s doctor decided not to come to the EEG nor follow up with us in the hospital, so the on call doctor did her best to explain the EEG results. The summary I got was something like, “The seizure activity in her brain has changed a little. It’s not better or worse — just a little different in ways that are hard to describe. So the medicine isn’t working.”
In theory, Eloise’s doctor will wait until her blood lab results come back this week (measuring the levels of Keppra in her system) and then decide whether to increase the dosage, add another medicine, or both.
Her seizures have continued since coming home
She woke up a few hours after he seizure on Tuesday, hungry and happy. From there, she had no more seizures until Friday. One on Saturday. And one today — Monday.
But the good news is, unlike Monday and Tuesday last week, she isn’t falling asleep every time and they do seem more mild, so that’s comforting. We’re hoping we can stay out of the hospital again for a long while.
But, just in case, I did get our hospital bag re-packed with some needed adjustments (packing for 3 days rather than a week). And we added a few things to her diaper bag so we have enough things for a 24 hour visit.
The plan moving forward
When we went to the hospital in November, we had been assigned a pediatrian who was in residency to become a pediatric neurologist. Although we weren’t sure we were completely on the same page with her yet, the great thing is she was quite interested in Eloise and did listen some. However, because of her residency, she’s on rotation and no longer in the young babies ward. Which means we now have the older neurologist she was reporting to as Eloise’s primary physician — that’s who Brian and Eloise saw on Tuesday.
And, well, I won’t go into details, but that will not work.
We still have a lovely family doctor, but, more importantly, we need one in the hospital that deals with high risk kids like Eloise. So we are back to the drawing board to finding a doctor for Eloise.
We have heard from a number of special needs moms here in Estonia that the care they have received in Tartu (a city 2.5 hours from where we live that is home to the best university in the nation) has often been a lot better. Likely due in part to the fact that many of the doctors there are also professors — and are much more likely to be open to new treatments and methodologies. In addition, the hospital there just opened a new rare diseases department. The press report was released the day before her big hospitalization in November — hopefully it’s fate.
So we’ve reached out to a doctor there and it looks like, tentatively, we may go there for a 2-day visit in early February to have them take a look at Eloise and see if maybe, just maybe, we can come up with a plan together that we’re all satisfied with.
SCN1A: A source of disagreement
I’ve mentioned a few times that kids like Eloise that are missing part of SCN1A eventually get diagnosed with Dravet Syndrome and that, likely, Eloise will get the same diagnosis.
I thought it was as simple as once the doctors noticed the seizures and then the SCN1A partial deletion, she’d get the diagnosis. Or, at the very least, they would take Dravet treatment into consideration when making decisions for her medications.
That has not been the case. Even if we point out the exact coordinates from the genetic report that show Eloise is missing part of SCN1A, the doctors aren’t ready at this point to listen.
That’s been disappointing.
When I was looking through Eloise’s files, I think I found the root source of the disagreement. It comes from the initial report from the geneticist. (I’m including both the original Estonian and the google-translated English version.)
Eloise 1 esinev deletsioon ei haara kromosoomipiirkonda, kuhu jäävad SCN perekonna geenid, mida on valdavalt seostatud selle sündroomi korral esineva epilepsiaga – seega on krambisündroomi avaldamine lapsel vähemtõenäoline, kui selle sündroomi kirjandusest hetkel teada. // The deletion in Eloise 1 does not cover the region of the chromosome that contains the genes of the SCN family that are predominantly associated with epilepsy in this syndrome – thus, the onset of seizure syndrome in a child is less likely than is currently known from the literature.
Later she wrote in the same report:
Geen SCN3A ei asu deleteerunud osas, paikneb proksmaalsemal // The SCN3A gene is not located in the deleted part, it is located more proximal
Eloise’s original genetic report March 2020
Back when the geneticist told us the above, we were comforted by that fact. Eloise would be less likely to develop severe seizures because she still had this SCN3A gene. What a relief.
Soon, though, what I was hearing from other parents had nothing to do with SCN3A. It was all about SCN1A — the gene associated with Dravet Syndrome. Later last March, when I followed up and asked the geneticist specifically about SCN1A, she said over the phone that she wasn’t sure whether Eloise’s SCN1A copy was affected or not.
However. Now, almost 1 year later — thanks in large part to Kay and Rachel, a couple of ridiculously smart parents who have done so much work learning in these areas thanks to their own kids — I know a lot more.
The geneticist was correct, Eloise is not missing SCN3A.
However, from my calculations Eloise is missing up to 81% of SCN1A. (I got the location information from here. The SCN1A gene lies on the long arm of chromosome 2 at 165,984,640-166,149,160 and Eloise’s deletion starts at 166,015,395 and continues on long afterwards.) And that is far more important.
Why this genetics report disagreement matters
All seizures suck. But SCN1A-related seizures are especially brutal.
A research article titled, Epilepsies in Children with 2q24.3 Deletion/Duplication says this: “SCN1A deletion contributes markedly to epileptogenicity, whereas SCN2A and SCN3A deletion have a comparatively reduced impact.” Not only that, but the article went on to say that 3 of the 10 patients with partial or full SCN1A deletions died before age 16 — one at 16 months during sleep. I don’t even want to begin to think about losing Eloise.
To summarize, it’s definitely SCN1A that predicts severe seizures, not SCN3A.
So we need Eloise’s files to state basically that. Because medications that work for normal epilepsy patients often are ineffective on kids with Dravets, and vice versa. There is a long list not only of medications to stay way from when SCN1A is involved in epilepsy, but the medications that should be tried first for Dravet.
Worringly, because our doctors don’t believe us at the moment, they are following normal protocol for genetic-related seizure disorders rather than Dravet.
I’ve written to the geneticist twice now. I’m hoping we can easily resolve this but, if not, as the resident doctor mentioned when I spoke with her during our hospital stay, we can always get a second opinion from another geneticist.
I hope we don’t have to.
Otherwise, Eloise has been super happy
One very positive thing is that Eloise snapped back to normal much faster after her big seizure this time. (In November she basically slept for 2 full days afterwards.)
Not just normal, but a very happy Eloise that is quite content to be left alone for long periods of time — that’s a change from before the seizures when she was quite fussy a lot and definitely didn’t want to be put down.
Thankfully, she also seems to still have all of the skills she had before — as far as we can tell. Not only does that fill me with relief, but it makes it easier to continue planning and dreaming about her future. Because maybe she’ll be lucky enough to have one.
What we’ll do in the meantime
We know from research as well as anecdotal evidence that CBD has been helpful in some cases. Now that we have an EEG showing clearly that Keppra was not working, we will begin giving Eloise small doses of CBD today and see how it goes.
We should hopefully hear from her current acting physician/neurologist within this week what she wants to do with Eloise’s medications going forward. Depending on what she suggests, we may choose just to wait until our visit to Tartu to start any new medications other than CBD.
Regardless, in the meantime we can hope and pray:
- That the geneticist updates Eloise’s report
- That doctors in Tartu will be open and help us come up with a treatment plan we are satisfied with
This update has been pretty heavy, both in details and content. I don’t like to write posts like this, but they do help me process — and give me an excuse to look for more research to challenge my assumptions.
Next week I’m hoping everything will be a bit lighter. And we can share with you some of the wonderful moments and things we’re doing with Eloise. I’ll probably add them to her Instagram as we go.
Thanks again for being there with us. We are so grateful. I’m not sure we could do this without you.
Hugs from the Taulbees who are hanging in there this week.
Hold your dear ones a bit closer for us,
Mallory, Eloise, and Brian
Eloise The Tiny Fighter 