Week 8: Finding a new North Star

March 20, 2021

This was originally published on facebook shortly after we received Eloise’s diagnosis in 2021.

So much to write. So little time.

Fast and furious. Boring, point by point update.

1. Sodium channels. I mentioned these things called sodium channels last time. They are puzzle pieces within her missing part of her gene. And they are strongly linked to epilepsy. I found out, potentially, that I was wrong and that Eloise may not have any deleted sodium channels. This is actually really great news because it means, at the very least, that she will have a lot less seizures. Hopefully. (EDIT FROM FAR IN THE FUTURE: Our kind geneticist did not want us freaking out about sodium channels so she was purposefully vague in this area. Unfortunately, Eloise IS missing sodium channels — all the ones I assumed already. SCN1A, SCN7A, and SCN9A. SCN1A being the biggest deal.)
2. Cysts ultrasound. The ultrasound on those cysts or whatever they are? If I’m reading the notes right from online — then some have grown, some have disappeared, and some have stayed the same.
3. High risk doctor meeting. The meeting with the high risk doctor was next to useless. I didn’t get to ask any questions. She didn’t ask me any questions. And I am almost certain she didn’t read any of the background notes on Eloise until I stepped into the office and she tried to do some speed reading. And language was definitely a problem. I’ve written to her and asked if she knows of a doctor more comfortable with English because my medical Estonian is horrible and this is going to be a long 2 years if we can’t communicate well.
4. Eloise’s first therapy. One useful thing the high risk doctor did do was send us to a physiotherapist. We learned an exercise for Eloise. She’ll start going once a week. Unfortunately, though, Eloise seems to no longer like the car. So when we arrive at appointments she’s stressed and crying. And then stressed and crying on the way home. And then it takes her several hours sometimes to calm down enough to nap. I’m already getting concerned about how we’re going to manage this. Maybe sometimes they’ll let us do a zoom appointment. Or maybe we’ll have to find some private ones and pay them to come to our home so at least Eloise doesn’t have a 3-4 hour trauma every time we have to take her to an appointment, which will be many times a week.
5. Other kids like her. The admin of the chromosome deletion facebook group helped me find several kids who have Eloise’s exact deletion code in another group (there’s still a slight variance in where they all stop and end, but it’s like finding kids living on the same street rather than just the same city). I now know of at least 3 and have spoken with their mums. Interestingly, 2 of them had some sort of bleed or cysts or abnormalities on their brains at birth but it eventually resolved itself. So it might just be a thing with her exact deletion.
6. Future is brighter. Of these 3 kids, the future looks pretty bright in light of what I was imagining as a worst case scenario. With anywhere from 3-7 different therapy sessions a week for years and years and years, she will almost definitely walk at some point. Hopefully by the age of 4. Two of the kids are still fed by a tube that goes straight to their belly, but one isn’t. So we’ll have to see how that ends up. They are all super happy kids, and though they don’t technically speak, they communicate pretty well what it is they want and don’t want. But it looks like reflux is pretty bad in all of them, I believe. I haven’t had time to look in more detail, but all of them I think have had some sort of surgery to help. And they are all really really really tiny.
7. Clarifying with geneticist. I’ll go swing by and hopefully talk to the geneticist on Tuesday to get some clarity on whether she has deleted sodium channels or not, and also let her know what I’ve learned.
8. Meeting family doctor. I made an appointment with our family doctor this upcoming week, too (whom we’ve never met) in hopes that she will be far more helpful than the high risk doctor we saw last week.
9. A roadmap to her pain. One thing that’s especially amazing is that a mom of a little girl who has Eloise’s deletion sent me a list of all of the stuff she’s been diagnosed with. So I can bring that to our family doctor as a starting point. (For example, it’s pretty common in these kids to not grow in proportion to what they are eating. Which I think is Eloise at this point. It can be a problem with their thyroid, or with actually taking it into their lungs on accident. So I can tell this to the family doctor and she will hopefully listen.)
10. Seizures. The same mum told me she was also afraid of infantile spasms/seizures and encouraged me to look at a few videos of moro reflex because she’d been worried about the same thing way back when. Since I’ve been watching Eloise for these possible seizures, it looks like either whatever it was we thought was a seizure has stopped, or it’s just her reflexes. But that same mum did say her little girl did have 2 seizures, but they were when she was 1.5 years old and medications have kept them at bay since they happened 3 years ago.
11. Other than today, mornings have been better. Sure, she still isn’t napping for long and still cries with pain a bit. But it’s getting way way way better. Other than today. But you gotta have bad days sometimes, I guess.
12. Podcasts. A friend who also has a specially-abled child with a gene abnormality also on chromosome 2, sent me a few podcasts to check out. Hosted by moms who have kids who have waaay more needs than Eloise will ever have. They actually were helpful and more encouraging than I realized. We are not alone.

Friends in Tallinn.

People keep asking how they can help and we just haven’t known what they can do (although, boy, these sleep-deprived parents definitely need some help).

But then someone suggested we should set up a calendly account and let people sign up for:

• yard work,
• home repair/construction work,
• house cleaning,
• Eloise babysitting, and
• meal making (with my now ridiculous needs of no gluten, no soy, no nuts, and no egg).

That sounded like a brilliant idea. Otherwise, y’all, our yard will not be mowed for the next year. Our house will be covered in cat hair. And who knows if we will have eaten that day. Because gosh, we are overwhelmed. Emotionally and, on days like today, physically.

Thankfully a friend came by and cooked a few meals for us and is currently acting as Eloise’s nap bed.

I’ll try to set that up in the coming days. Hopefully sooner rather than later.

That new north star of hope?

I think it’s gonna be these other kiddos that have the same deletion as Eloise. Though they may struggle to do what “normal” kids do, they work thousands of times harder to do it. And, unlike the rest of us, they don’t measure their worth on what they can and cannot do in comparison to others. I have a feeling we are in for a whole bunch of life lessons we probably really need to learn.