On Kai’s wonky eye

By | #teammikaere | No Comments

Mikaere has a wonky eye. It’s not called a wonky eye, it’s called intermittent left hypertropia with exotropia. Big words, but essentially means that Mikaere isn’t always able to align his eyes in the same direction. It would be but like going cross-eyed, but only one eye (his left), not both.

Hypertropia means it floats up (instead of staying in the middle) and exotropia means it floats out (the opposite of going cross eyed).

There isn’t much that can be done to fix it. Surgery (which we won’t consider). There is a study happening on patching, but there isn’t enough evidence that it would help for me to want to put Mikaere through that (Quality of Life is always front and centre of any treatment plan).

Apparently it shouldn’t effect his vision too much, and is a side effect of NKH. What’s more it’s not all the time, mostly when he’s tired or stressed. If it is bothering him, he’ll stop for a moment, still himself and close his eyes. When he opens them sometimes his eyes reset themselves and orientate in the same direction.

The trickiest thing for me is the stares when we’re out and about. Being in the supermarket and a kid asks ‘what’s wrong with that babies eyes?’ before being pulled away by their parents. (Sidenote: please don’t do that. Encourage your kids to ask questions. Please just politely ask instead of making something up or shushing your kid).

As a side note, it turns out Mikaere is ever so slightly (3 dioptres) far sighted! I get the impression this is a common NKH symptom, and easily fixed with glasses. However, I don’t necessarily feel would improve Kai’s quality of life enough to warrant fighting with him to keep glasses on his face, and our opthomologist didn’t feel strongly, so we passed. It has helped us though, when we hold things for him to see, we start from far away and move it forward until he focuses on the object. Even just having the knowledge that he’s ever so slightly farsighted has changed the way we interact with him.

The other thing is that he’s got less farsighted as he gets older, and we’ve also noticed that his eyes are less wonky. (By that I mean, the frequency of his wonky eye periods are less the more well he is, and they increase when he’s poorly or tired).

Hey ho. I think it’s just ‘another thing’ we manage hey. Rare metabolic disorders and wonky eyes. Onwards we go!


On the eye test

By | #teammikaere | No Comments

We’ve never been sure exactly what Kai can see. It sounds crazy, really, but when you meet him it becomes pretty clear. He doesn’t meet your gaze. There is no eye contact. And it’s not like he’s aware of you and is actively avoiding your gaze, it’s that we think he can’t see all that well.

Cortical vision blindness, is what it’s called. Where there isn’t anything really wrong with his eyes, but something wrong with his brain. We knew this already – when we were in NICU we knew the toxic levels of glycine were already causing damage to his brain. The MRI was bittersweet. Structurally, all the parts where there. Unfortunately some parts had damage. Womp.

The older he gets the more clear it is. Kai doesn’t focus on things. And when he did start fixing on things, he didn’t follow them with his eyes if they moved. Or, maybe he does? The tricky thing is we know his hearing is bang on. If you make any kind of noise, he’ll turn his head towards you, and his eyes will seek you out. Our ophthalmologist thinks his ears are over compensating for his eyes. It’s crazy. So while we think he’s following with his eyes, he’s actually following with his ears.

Here’s what we do know – Kai can see light. If you flick a light on or off he reacts. So that’s nice. I’m pretty sure he can see movement, too.

But the rest of it? We don’t know really. But we do want to know, as does our neurologist and our ophthalmologist.

So we took Kai out to a fancy eye hospital in East London and had two eye tests done at the electrophysiology department. One was to check if his retina was detecting light (called an Electroretinogram, or ERG) and one was to see if his optic nerve was receiving any signals (called Visual Evoked Potential, or a VEP).

And this is all well and fine. Except that Kai had a seizure right before we walked in to the appointment. Poor little guy. Usually he’d sleep it off as his brain recovered. We’re lucky that the ERP could be done while he was asleep.

Awkwardly, it did mean I held his eyelids open for part of the test.

We had to wake him up for the second part of the test, the VEP. I felt so horrid, but it had taken forever for us to even get this appointment (I hate that I’m still quietly trying to justify it to myself now). So we woke him with a dance party – there were things stuck to his face and head and we kept him awake and flashed lights in his eyes. I can only imagine how terrible that was if all you want to do is sleep.

Le sigh. I was glad when we were done. It took a while for the results to come back, but long story short there is nothing wrong with his retinas. The VEP looks promising, but it’s hard to tell because the post-ictal stage interfered with how Kai’s brain was working and the readings they received.

So in a few months we’ll have to go back and do it again. Fingers crossed less seizures this time.

With all the electrodes...