1 new tooth, 1 stuffy nose, 1 pair of shoes, 1 scheduled hospital visit, 1 struggling-to-nap baby, 8 appointments, and 10 days of no seizures = a set of exhausted yet hopeful parents
It’s been an insane schedule for Brian and I, especially while Eloise has a tooth coming in and congestion on top of that which leads to not sleeping so much — but we feel so hopeful. So much good stuff has happened that I’ve been running around the house beaming from ear to ear and, sometimes, literally, jumping up and down.
The week 54 highlights (according to her instagram)
From the Eloise the Tiny Fighter Instagram stories this past week:
🥳 No seizures this week! 🥳
They put her on a medication called Keppra on November 8th to combat her seizures, but, after that, only tested the levels in her blood twice — both times the test results showed the levels were too low. Meaning, even if Keppra was the right med for her, the dosage wasn’t high enough to make a difference.
On January 11th, Eloise’s doctor had them take a blood sample to check again. On the 21st, her blood results came back. And, finally, on the 27th, Eloise’s doctor decided to increase her dosage. (Why it took 6 more days to make that call even while I emailed her a few times? I have no idea. I assume there’s a good reason, I just don’t know it.)
It looks like maybe, just maybe, that higher dosage may actually be making a difference. Which, honestly, surprises me. I was thinking for sure that it wasn’t helping. But considering we realized she had a tooth coming in starting on January 28th and she’s had congestion for a few days now and STILL no seizures, well. That is really really really really great news. I’m trying hard not to keep my hopes up too much.
- Week 50 (Jan 7-13): 15 seizures (Jan 11 went to the hospital)
- Week 51 (Jan 14-20): 16 seizures (Jan 17-18 tried CBD full spectrum oil)
- Week 52 (Jan 21-27): 21 seizures (Jan 27 increased Keppra from 90mg to 135mg 2x/day)
- Week 53 (Jan 28-Feb 3): 5 seizures (Feb 1 increased Keppra to 135mg 2x/day, Jan 28 tooth pain started)
- Week 54 (Feb 4-Feb 10): 0 seizures (Feb 10 decreased Keppra to 130mg 2x/day, Feb 9 congestion started)
At the moment, the last seizure she had was on January 31. That is 10+ days seizure-free for Miss Eloise. The fact that she’s been teething AND had congestion in the midst of that makes me feel very encouraged.
📅 Appointments appointments appointments oh my! 📆
Well, we said we were going to restart therapies for Eloise and, gosh, this week we did!
Eloise’s doctor (who is a pediatric neurologist) decided last week to assign Eloise to a new pediatric neurologist in the children’s hospital. Even though I am not sure why she decided to do that, I went with Eloise on Monday. Some really wonderful humans helped us do some genetic research on Sunday in hopes that I could talk to the doctor about some of the things they uncovered on Monday.
But, well, Eloise’s new doctor didn’t seem interested. This is Eloise’s 5th doctor in the children’s hospital in less than one year — and we have only asked for a change once. So far, the pediatric neurologist resident has been our favorite, and even though she actually came to this appointment, unfortunately because she’s still on rotation as a resident she can’t really take responsibility for Eloise’s care.
So Eloise’s new doctor decided to start all over. To take care of my “genetics questions”, she decided we should go see a new geneticist — despite at least one of the disorders I brought up according to her genes being a neurological disorder that we should be able to easily check for and treat fairly simply, and it might help Eloise massively with her muscle development. She also told us to go see a speech therapist and a physiotherapist to get assessed. Apparently, when patients come to her she wants to start all of that all over again so she knows how they were when she started treating them.
I would be completely frustrated at her lack of interest in what I had hoped to talk to her about, but she was at least right in that we probably really did need to see a geneticist. And I was pleasantly surprised that she immediately ordered a new blood test for Eloise. So by the 18th, next Friday, we should know whether her medication dosage is finally at therapeutic levels after being on it for almost 4 months.
Is it normal for it to take 4 months to even make sure she’s taking enough of a medication for it to have an effect on seizures? I have no idea. To me, that seems like a long time.
It doesn’t matter, though.
Why doesn’t it matter?
Because we’re going to Tartu Rare Diseases Center on the 21st!!!!!!!!
I found out on Tuesday. Either Brian or I (although we are hoping we can somehow convince them to let us both go with Eloise) will go with Eloise to do a new evaluation at a new hospital with new doctors who are set up specifically to deal with rare cases like Eloise’s. It’s the teaching hospital for the nation, where many of the doctors are the lecturers at the medical school. From what I have heard from a number of parents now, at this hospital they are interested in rare disorders, and are not only open but encouraging of finding experts abroad who can help them diagnose and suggest tests and treatments to do here in Estonia. And, so far, the 2 doctors we know we will be meeting sound very promising.
While we’re there, Eloise will likely go through a bunch of different diagnostic tests and see a bunch of different therapists and specialists. We’ll see a pediatric neurologist that is the head of the department there, and we’ll also get to see one of the best geneticists in the nation — who also happens to head up the Rare Disease Center. If they can find a psychologist who speaks Estonian, we might even get an appointment for Brian and I to chat with someone while we’re in the city.
I just can’t wait.
If that wasn’t enough to be excited about, this week has been pretty big for Eloise even without that.
💪 Development 💪
Right now I’m trying to get every therapist I can to come to our home, just to reduce the amount of exposure Eloise has to germs from other kids. (She’s been majorly sick 3 times in her life, and all 3 times have come within 48 hours of visiting a therapist.) Thankfully, it’s looking like Eloise will soon have physiotherapy at least 3 times a week most weeks, but getting the financing will not be easy at first — I’m still working on figuring out how much and if the local government and the state and a children’s fund will pay. The big thing for them is the fact that they are home therapies, which isn’t how therapies normally happen here. If we were going in person, that’s much easier to get covered. But I think it will happen, it’ll just take me some time to sort out. (Thankfully we have several people helping us work on this, too.)
But back to her therapies this week. (Doctor’s visit, speech therapist for an evaluation, Blood draw at the hospital, Family doctor visit, phonecall with a social worker for me, Physiotherapist 1, Special needs teacher, Physiotherapist 2, and on Saturday will be physiotherapist 3.)
One of Eloise’s new physiotherapists worked for many years at the Haapsalu Neurological Rehabilitation center where they do intensive therapies for kids and adults (like several hours a day every day for a week). We met her last week and, this week, she brought with her the tiniest pair of special support shoes she could find at the center. Eloise will use them until she grows out of them and then they’ll go back.
Why did she bring shoes? Because she decided it was a good idea to start getting Eloise used to standing — before Eloise’s body really finds it far too difficult.
Seeing our little girl in shoes and standing, even if it was just a second or two, made me tear up. That night and in the days since, I keep repeating to Brian, “Oh my gosh our baby girl is growing up.”
I’m just so grateful for all the help. All the advice. And all of these saintly therapists that drive out to the middle of nowhere to come help Eloise.
Not only that, but one of the new physiotherapists already took it upon herself to organize the 3 of them that see Eloise so they can make sure they’re on the same page with the work that they are doing.
I am in awe.
We’re getting help. Eloise is getting help.
🧬 Genetics exploration 🧬
When I started going through the list of Eloise’s deleted genes and possible disorders, I noticed a few that already looked like we should do more investigating.
And then it occurred to me, I didn’t have nearly enough time to go through all of these disorders in the detail we’d need to rule it out as something Eloise did not have or wouldn’t have until much later, or to decide whether we should try to push the issue with doctors.
But then I got an idea.
From time to time, people ask how they can help, especially remotely. I rarely know what they can do. But then this week I realized there were probably others out there like me that knew how to work with google documents and loved researching random genetic disorders like this. And had an hour or so to give.
So many incredible humans have already done quite a bit of work, but there’s still more to be done. (And the person in me that likes clean documents already wants to go in and change all the formatting so it’s nice and tidy. But I’ll save changing all the fonts and formatting for another day. 😝)
If you want to check in this document and help fill out the research (there are a few disorders that still need researched and a number of others that we now know we need more information on to rule out or to see if we should look into it further), then we’d still love your help. If you know how to use a google document and have an email account associated with gmail, then send me a message and I’ll give you access.
The support and warmth and gratitude I feel looking at this massively huge document full of information found by Eloise’s virtual community is huge. Strangers and friends alike are helping us carry this burden in ways I could never have imagined.
Savoring another week full of hope because they won’t all be this good,
Mallory, Eloise, and Brian
Eloise The Tiny Fighter 
Awesome Exciting Eloise!!! ❤️❤️❤️
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