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.
Did the neuro say anything about her lack of vision, Veronica? How odd that he thinks they’re not seizures.
He thinks it’s probably linked to whatever else is going on. Again, wait and see. I think he also said that he could see on the MRI that her vision wasn’t as developed as they’d like it to be (something about pathways and it was a bit hard to follow). Because it was such a huge appointment with so much covered, I reckon I’ll see if my GP can give me a copy of the notes when he receives them. Easier for me to keep track of that way.
I guess it’s a good thing though, that he covered so much, but I can see how it’d be very hard to remember it all. A copy of the notes would be a great idea
I am heart sick for you, V. I don’t know what to say, other that I’m thinking of you and praying for it all to go away….
Oh Veronica I am so sorry you have to go through all this. I do know how horrible that ‘not knowing’ is. Just hoping you get some answers soon. X
So sorry you all have to go through this…hope you get some answers soon for your little girl.
I hate wait and see. Whoever thought up that phrase needs a good kick up the bum.
Wait and see.
My least favourite thing. Well, except for neurologists who tell you that seizures are not seizures
and doctors who tell you you can’t do anything to stop the awful happening.
Words really aren’t enough at times like this but know you’re in my thoughts and I’m sending love your way. Hoping for answers and relief for all of you as soon as possible. xx
Thank you for the update. All my love, as always. xox
Oh hugs.
Though it is good to have a Dr who likes a medical mystery as in his off time he will still be thinking about your case. I just hope he doesn’t put you all through too many random tests IYKWIM
I wish he had given you more direction than wait & see. A 3rd LP sounds awful too. I hope he is thorough enough to keep looking for answers to why ?
I’m glad, at least that the doctor seems engaged, and not scared and busily passing you on to someone else. The endless waiting is just awful and I’m so sad to hear that the feeding is going backwards 🙁 Love and hugs from all of us
Cait
xx
PS Good luck with Nano, let me know if you need any help with brainstorming!
My heart aches for you and your beautiful bub.
I will keep praying to the universe for answers for you.
Much love.xx
I think we all feel heart sick with you…where is a real life Dr House when you need him! Hugs, and good luck with the novel!!
Yay? Not yay? It’s so hard to know how to feel.
As always I don’t know what to say… Just I am here along with everyone else, listening and virtually holding your hand.
X
Another lumbar puncture. Oh my heart breaks for you both. Love, prayers, good vibes, crossed fingers and everything else that may help.
Not seizures is a good thing, but not knowing what else it is, isn’t so good.
Wait and see is the hardest thing.
My heart breaks for you and your family. I am thinking of you guys everyday and praying that you get answers soon. I am so sorry that you are going through this.
Oh Veronica.. another damn lumbar puncture… how cruel..
I am “pleased” that genetic testing may be getting done.
It’s awful that this is taking so long for them to know what is the problem with your beautiful baby girl..
Another one hoping that you get some answers real soon.
HUGS
I agree with everyone else … I hate the ‘wait and see’ option too.
Hoping and praying that there will be a light at the end of the tunnel sooner rather than later. xo
*hugs* to you all. Has anyone considered any of the really rare forms of EDS, or have the expertise to do so in your part of the world? The tone, twitching that isn’t seizures etc could be all part of that in some of the rarer presentations. I can’t remember the names (typical, sorry!) but there was a child in the UK who had a really rare type/presentation of EDS that from what I recall sounded quite similar to Evie. I can remember I picked up the information via the old forums on the EDS UK support group and that there was a documentary about this child so there might still be someone or some old information on those forums who’d know. I also remember that it was partly because his tone was so poor, and so floppy that EDS wasn’t picked up until later on, when he was 4 or 5 I think, his parents crashed a medical conference and didn’t leave until someone there figured out what was going on. I’m pretty sure the little boy was then under the care of Great Ormond St in London…it might be worth an email to see if anyone there could advise.
But mostly, just love to you all, BG Xx
Big hugs to you. I hope you get some answers soon. I’m holding you close to my heart while you “wait and see.” (Gosh, I hate the “wait and see” bit, too.)
My heart aches for you guys. Every day I read your blog I think it’s not possible to be more speechless!! I pray every day that you will get your answers and that you can finally help your little precious bub. I admire your unbelievable strength and courage. You are made of some seriously strong stuff!!
Oh V. I don’t know what to say other than I am listening and hoping those milestones are caught-up soon.
I just came across your blog through The Bloggess, and my heart hurts for all three of you. I have seizures that ARE seizures, but didn’t start having them until I was 50. And it took another 2.5 years to figure out what triggered them. Go figure. Our brains are incredibly complicated. My prayers will be with you.
Oh V. Hard. Very hard. I’m happy the doctor likes a challenge and isn’t just lumping Evie in the too hard basket. But still, fuck.
(((Hugs)))
Oh V… I’ve been reading your blog for quite sometime and my hearts just bleeds. Every time I open a new post, my heart hopes that there’s good news about Evie, I’m sure it will come soon though. Don’t you just wish Dr. House is a real person? I’m probably as frustrated as you are!
Oh V, sending you lots of love. xx
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