Headfuck

Evelyn had a Paeds appointment this afternoon.

I just stopped and thought about that. That particular line has been the starting line of more blog posts than I care to imagine. You’d think with my super powers that I’d be able to think of new and exciting ways to let you know that Evie saw her doctor, but apparently, you’d be wrong.

In any case, she saw the Paediatrician today and he is stumped, but! not really. but! kind of. but! these things should not be related, but might be, but probably aren’t.

Evelyn appears to have contracted cytomegalovirus at some point, probably while she was in utero. I don’t know much about it and at this stage I’m a bit loathe to google too much, but I do know that it can cause seizures …

[Digression: If we go through all of this, this EVERYTHING, only to be told that she’s not having seizures, but now she has something that seemingly can cause seizures, I will be VERY ANNOYED if they decide that she IS actually seizing. Because it sure as hell looks like seizures still to me and “twitchy episodes” or “non-epileptic myoclonic episodes” as they’re technically being called does not have the same ring to it when I’m watching my daughters eyes roll into the back of her head while her face twitches.]

… because of calcification in the brain. Now, when Evie had her MRI at the grand old age of five and a half weeks, or around 10 days corrected, it didn’t show any calcification and common sense would tell you that there needs to be calcification first to cause the symptoms she is having. But common sense would also tell you that if she had had cytomegalovirus, then there would be both IgG and IgM antibodies in her blood and urine – whereas she only had IgG antibodies (inherited from me, because I’ve had it an am immune). BUT, trumping everything, they found DNA PCR in her urine (that’s what they told me, anyway), which is apparently a better diagnosis than just antibodies?

All of that is to say, I’m not sure how much of the IgG and IgM and PCR stuff you understand, goodness knows I’m barely wrapping my head around any of it.

End result: Evie has had cytomegalovirus and it might be the cause of some of her issues and it might not. She might be terribly broken, or she might be entirely asymptomatic. We just don’t know. She’s been referred off to have another hearing test and a brain ultrasound in any case, so we’ll see what those show.

Unrelated: She’s also having her adrenal function tested, because her skin continues to darken, making her look rather like she’s trying to hide a solarium habit from me. As a child of completely Caucasian parents, her nipples should be the darkest part of her torso, not the lightest. Again, it could be nothing, but darkening skin is an adrenal thing and we’re checking it.

I think she’s also having another liver test, among other things*

Also unrelated: Her development continues to suck. I mean that in the very nicest way of course. She’s just barely hitting some of her 6 week milestones now (at almost 16 weeks), and so I’ve got a handy dandy developmental chart to fill out before our next appointment in a month.

*I say tested, but we didn’t do the bloods today because it was all too much, and PACU was very busy taking blood from a poor screaming toddler. We’ll get the bloods done when she has her ultrasound next week.

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I had a witty title for this post in my head last night as I fell asleep. Obviously it slipped out somewhere between my dreams of Evie twitching and my dreams of researching ever-weirder syndromes on the Internet. I think it’s a little exhausting that I continue to try and work out what is wrong with my baby, despite being fast asleep. Also, I’m pretty sure Wikipedia doesn’t normally have purple elephants and unicorns with sparkles.

We saw Evie’s Neurologist yesterday for the first time. They’d squeezed us in – creating an entirely new appointment at the end of the day, and Nathan and I sat in the waiting room while the receptionists clocked off for the night and a lone cleaner roamed the halls of the Paediatric Outpatient unit.

The Neurologist took a full history, watched videos of Evelyn twitching, referred to her EEG that he’d read earlier and told us that he’s pretty sure that these aren’t seizures that she is having.

What are they? No one knows. But they’re “not-seizures” and I spent an awful lot of time last night watching her “not-seize” while she slept.

On the upside, the Neuro seemed like a doctor who loves a good medical mystery. On the downside, that medical mystery is my tiny 13 week old baby, and we’re no closer to knowing what is wrong with her.

Her muscle tone is low and “concerning”. Her lack of any limb control, the same. She’s not hitting any milestones and we’ve just got to do the dreaded “wait and see”.

He spoke briefly of the possibility of a movement disorder, but again, we won’t know anything until she gets older and misses more milestones (or catches up – whatever the case may be).

Evelyn is an interesting case, and unfortunately, that’s not something you ever want your baby to be. Medically interesting is not a good thing, sadly.

Her feeding is starting to suffer as well, she’s having trouble staying latched as she sucks and her weight gain is slowing down. I’ll discuss that with her clinic nurse and with her Paediatrician when we see them next.

I just don’t know what is up with this baby of mine. They don’t think that she’s having seizures, but they don’t know what her weird movements are.

And horribly, they probably want to do another lumbar puncture. Her doctors will ring around the pathology labs to see if certain tests have been done, and/or if there is more spinal fluid of Evie’s available for testing – but there’s some tests that the Neurologist would like run, including gene testing, and that will involve another lumbar puncture.

I can’t even tell you how sick that makes me feel. One lumbar puncture is bad, two is fucking awful – but three?

Sick.

So, that’s that. In the meantime, I try and feed her as much as possible, and we wait for her to do something that will point us all in the right direction.

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