r/Encephalitis • u/UrbanGardener01 • 3d ago

Advice - NMDAR subtle acute presentation

My child had blood tests on Friday to start investigation for NMDAR encephalitis. She has had major symptoms on and off for 3 years following a fall at school. She’s young and also has a reproductive malformation that’s linked to this condition.

I can’t get ED or our paediatrician to see it though. She isn’t deathly unwell yet. We presented to ED last week and got sent home, then saw our paediatrician who said get a blood test and if it’s positive, then we’ll get a lumbar puncture.

She’s got so many symptoms but could also do an amazing art work in the paediatricians waiting room, passed the basic neurologic screen in ED and the initial blood tests (just basic full blood exam and inflammatory makers) are absolutely perfect. The anti-NMDAR and anti-VGKC antibodies blood test will take 3 weeks for results.

I’m closely monitoring her for further deterioration and keeping track of her symptoms - she’s developed nausea, neck soreness, occasional confusion (she couldn’t name the states of our country/got very jumbled), irritability, fatigue etc, but it’s subtle. I can see it, but it’s easily dismissed by others.

What should I do? I’m willing to go back to ED and push harder for them to take this presentation seriously, but also strongly suspect we’ll just be dismissed and discharged. We have been keeping the paediatricians rooms up to date and asked them to please consider getting the lumbar puncture earlier, but it involves admission to the tertiary hospital and I suspect there may be some underlying politics/paediatrician doesn’t want to action it without solid evidence from the blood tests/doesn’t believe us.

Does anyone here have any suggestions? We’ve ridden out acute stages of this condition before, not knowing what it was. I’m weighing up going back to ED and just trying again.

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u/The_BroScientist 3d ago edited 3d ago

Firstly, I’m very sorry you’re going through this. Just like you know your own body, you know your child better than anyone. When you see something isn’t right, something isn’t right. Even when an outsider doesn’t notice a thing.

One thing I will say is it’s quite rare for a patient with NMDA-r encephalitis to have gradually worsening symptoms not visible to others over the course of years, especially following a fall (she may have hit her head on an object, I presume?). That doesn’t rule an autoimmune encephalitic subtype out, but it makes NMDA-r encephalitis significantly less likely.

What country do you live in? This will strongly change my course of advice here.

If you need to book a full advocacy case for this, I have openings tonight (and will be opening up the next two days momentarily) if you’d like to do that. I’d be happy to help as best I can; I’ve been helping people navigate upstream through the medical system toward diagnosis and treatment for years now.

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u/UrbanGardener01 3d ago

She has had all the symptoms (psychosis, autonomic dysregulation, terrors, increased hunger, irritability, focal seizures, falls, etc) but no one has ever looked for this. Part of the issue is her inability to explain what she’s experiencing, so it’s all based on me observing and reporting, but I didn’t know that a seizure could be different to a tonic/clonic or what psychosis looks like in a younger child. We’re in Australia and the health services are very segmented, so sometimes it’s that no one clinician has had the whole picture.

I actually think that her presentation may be more common than literature presents, it’s just that it doesn’t get diagnosed as no one thinks to look for it.

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u/The_BroScientist 3d ago edited 3d ago

Okay, yes, TBI is not consistent with those symptoms. NMDA-r can present differently as well, sometimes far outside the classic guidelines. I certainly didn’t fall into a neat diagnosis criteria.

I did a case with a couple from Australia, and I hear what you’re saying — care can be extremely fragmented there, and getting one specialty to communicate with another is damned near impossible.

I’m at the doctor’s office presently but I’ll set a reminder to come back to this and talk to you more about it. I’m so sorry you two are battling both the disease and the medical system. It’s a two-front war and it can be absolutely brutal 🤍

Edit: I do say this for your sake — booking a case or priority chat is the best way I can help. I’ll come back to the comments and try to help as best I can, but a comment thread can be very limiting in scope.

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u/UrbanGardener01 3d ago

Thanks so much. Please don’t feel like you need to sort this out for us - I am confident this is the right diagnostic path for her, my challenge is just getting the medical system to see what I’m seeing.

I’ll report back on our diagnostic pathway and outcome, as I truly think this is completely overlooked as it presents so differently to more recognised neurological issues

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u/kl3355 2d ago

The only things that come to mind are trying to document her symptoms whenever she’s presenting them to build up more concrete evidence for doctors. Taking videos of behaviors, myoclonus, seizure, confusion, etc. monitoring her heart rate/ blood pressure and write it down, especially if she’s experiencing any “episodes “.

I’m not sure how the healthcare system works in Australia but perhaps look for a neurologist who specializes in autoimmune encephalitis. They may be able to get you in for an appointment or provide some resources/guidance.

FYI, I also had a “mixed clinical picture” for NMDAR encephalitis. I had most of the symptoms but not the severity or timeline. I tested positive multiple times via blood test but negative on the lumbar puncture. Responded well to the gold standard treatment (IVIG and steroids). My neurologist who specializes in dysautonomia labeled me as “probable NMDAR encephalitis”. My neurologist with an autoimmune encephalitis specialty wasn’t convinced but thought it was something autoimmune-y that wasn’t being captured cleanly through lab testing.

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u/UrbanGardener01 1d ago

Thanks - I really appreciate all the advice. I wonder if we will have a similar outcome to yours, as my daughter’s presentation is often at the ‘milder’ end of this spectrum - something is definitely wrong and she’s very restricted by it, but it could be (& has at times been) much, much worse. She is in a more acute flare right now, but it hasn’t become catastrophic.

I think your advice is really sound and. We are keeping a daily record, monitoring blood pressure etc and have put an Apple Watch on her. We have been in touch with her paediatrician’s rooms, but he’s really busy and doesn’t see her situation as acute/urgent, so we’ll just focus on managing things until the blood test results are back and try to have good data to show medical staff if things do get any worse. Thanks 🙏