On Ophthalmology

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As everyone here in London is just Getting On With Life as if cover wasn’t a thing, there was pressure to take Mikaere into his Ophthalmology appointment. You can’t really do ophthalmology over zoom, and it’s been two years so… yes. With much anxiety and mask wearing (even Mikaere) we went and saw his ophthalmologist.

Mikaere has CVI (cortical vision impairment). We know that. It’s not clear what he can see, what connections are getting through to his brain. There’s also an issue with the tone of the muscles around his eyes, which means one eye floats in a bit (it’s called strabismus). We also found out this time that his eyes are oval shaped – called astigmatism. That’s not NKH related, as Sam has that too. Mikaere is also long sighted. So it’s all a bit complicated, but mostly fine.

The lovely ophthalmologist looked at Mikaere’s eyes, and shone various lights and made some decisions. Mikaere thought it was generally hilarious, and was very cheeky, holding still just long enough for her to almost get her readings, and then turning away with a laugh (he thinks he’s hilarious!)

Anyway, the short of it is Mikaere’s getting glasses. Again. He actually had glasses briefly almost two years ago, but after a while he refused to wear them. The ophthalmologist then said it’s likely that his eyes changed shape and the script was likely off. He was right, I guess.

But awkwardly because of Covid, the spectacle dispensing office was closed, and so we need to wait for another appointment to have a fitting.

Still, I feel like it was good to go, and novel for Mikaere to be out and about and meet people outside our bubble (!)  I guess stay tuned for the glasses reveal?

#disability #nonketotichyperglycinemia #nkh #nkhawareness #ifhnkh #metabolicdisorder #teamMikaere #glycineencephalopathy #nkhcansuckit #someoneFundACure #cureNeeded #disabledparenting #disabled #disabledfamily #complexmedicalneeds #metabolicdisorder #nkh #spectacles #strabismus #astigmatism #eyeCare

On a bit of elastic

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Mikaere’s at risk of hip subluxation or hip dysplasia. Subluxation is where the thigh bone is partially dislocated or fully dislocated from the hip socket, and hip dysplasia is when a hip socket that doesn’t fully cover the ball portion of the upper thighbone (which in turn allows subluxation).
The reason for this is quite simple: because Mikaere can’t weight bear independently, he’s not spending nearly enough time on his feet to allow his hip sockets to form like they should. Let’s be honest, he spends most his day lying down, or in supportive seating. Now that he’s so big, standing is typically a two person job, and as he grew out of his standing frame last year and our trial appointment for the next one isn’t till July… basically, there isn’t a lot of standing going on.
When lying on his back, Mikaere has a tendency to splay his legs wide. It’s called excessive hip abduction, it’s no big deal, except that because he has low tone and it causes his hip to rotate slightly, it can hasten the journey to subluxation.
So, on the advice of our physio we introduced a bit of elastic band to our set up. Don’t get me wrong, there are lots of fancy, therapy-esque things you can get (like hip helpers, or the happy strap, both which we’ve tried and he’s outgrown) but they are all VERY expensive. We had elastic at home, and tied it together in a loop (very technical, and free) which works in the same way.
Essentially, it stops the excessive hip abduction, gives his muscles a teeny bit of a stretch in a different position and it was affordable and accessible. Woo!
I wish all disability equipment was as affordable and accessible as bit of elastic, but hey ho. I’m glad we’ve made it work in this case 🙂

Trying to navigate blind

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I’m wary about posting this. When there are so many things out of your control, and those same things are basically what makes your heart beat, you become way more superstitious and faith going person than before.

So I’m wary about telling you that Mikaere’s seizures have lessened because the universe might hear and laugh and send more seizures our way.

His seizures haven’t stopped, but the frequency has definitely decreased.

Because the seizures were presenting differently, because they came on so suddenly, because they were relentless, it’s been a stressful few days.

Do we take him in to a&e to be reviewed? No, because all they’ll do is take bloods. They’ll swab for an infection he doesn’t have (because we’re still in isolation, day 164 today) and we won’t get the important plasma results back for two weeks, so going in is basically a risk (cause global pandemic, with little to no benefit). And at that point, it’s on *US* to figure it out.

So we do all the things. We weigh and adjust his meds based on any weight gain, and we video what the new seizures look like (is that movement really a focal seizure? Could it be dystonia? Could it be spastic movements or chorea?)

We go down a rabbit hole of research, reaching out to people we know in the community to understand what it typically looks like, how it’s treated, when it came on for other kids.

Spoiler: not dystonia or spastic movements or chorea.

We check the use by dates on all the meds, make sure the meds are what they say they are on the label, check they’ve been stored correctly and haven’t oxidised.

We try figure out what he might have come into contact with. Is he too hot? Too cold? Is he in pain? Are any of his muscles unbearably tight? Has he lost any range of movement in his limbs that might indicate pain? Are there any rashes or spots or anything that might give an indication?

Is this NKH progression? (I hate considering this, because it means there is nothing we can fix).

And so we sit. With our anxiety, asking Mikaere to please breathe while he’s having a seizure, cuddling him close after, reassuring ourselves that he’s still here, still with us.

We’ve already made the med changes, so we need to wait and see before we make any other changes.

But it’s hard to wait, and it’s hard to just watch and there’s definitely a toll on everyone (it’s hard not to feel like a failure, when you can’t help your kid when they’re suffering).

And slowly, the time between seizures stretched out and the frequency came down and the weird focal seizures went away and the tonics we’re used to seeing took precedence.

But it’s hard to trust this lull. It’s hard not to be on full alert, hard to trust that there might be less seizures today. That we might get awake time and maybe even a smile. It’s hard to relax into this deescalation and trust it will hold, while at the same time desperately wanting it to.

The special needs life, hey? Seizures can suck it.

Seizures are awful :(

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I’m holding the sedative meds, I’m ready. Waiting. Because I know it’s coming. I know that I’m going to have to sedate my child. Again. And that if I don’t, he’ll keep having seizures. Over and over and over again.

Around 4am there was a twitch. A slight lifting of the elbow and a tense shoulder. For a *moment*. I saw it, but before I could figure out if it was a seizure he’d relaxed. And then it happened again. And over the course of an hour it happened over and over, for longer and longer until they were recognisable as seizures. I need to wait for one more, as per the seizure care plan. Three in an hour, that’s the threshold. But I know it’s coming.

You’d think I’d be used to it now, but knocking your kid out isn’t an easy thing to do. Well, that’s a lie. It isn’t hard: position him so he won’t choke, pop the lid, squeeze half between his cheek and gum on one side, the half on the other side and rub his cheeks until he crashes out. Physically it’s one of the easier cares (way easier than nasal suctioning or button changing or fighting with the Lycra suit).

Emotionally? I feel like I’ve been pummelled. Emotionally I would like to never see my kid suffer seizures again. Emotionally I wonder if this is the beginning of the end (it’s not, universe. I didn’t put that out there so you could run with it).

Because it’s a never ending fight. Trying to figure out what’s causing them, trying to get them to manageable levels so he can experience some kind of quality of life, with awake time and development and (and in my head, I want to cry, because my sons quality of life comes down to him BEING AWAKE, and not, you know, every other joy a three year old might experience).

Honestly, the weight of this hand we’ve been dealt gets harder to carry. The never ending seizure war. NKH, you’re awful and I hate you.

On the A&E during lockdown visit

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The thing with isolating is that safety stops at your front door. Inside: safe. Everything else: unsafe. We’ve been living that tenet for what feels like forever (funny how long 4+ months can feel).

But about a couple of months in, Mikaere started having seizures. Not just one or two, but many. The kind where it knocks him out, and as he’s waking up he has another. He was having very little awake time, losing skills and honestly, they were the kind of horrific seizures where between having the seizure and his brain shutting down, he’d literally scream before becoming unconscious. Melt your heart, panic when your heard it type scream (can I just say now I loathe NKH to the very depths of all that I am capable of feeling). We ended up sedating him, several times. We haven’t had to do that in almost a year.

The other concern was his heart rate. Usually when sleeping his heart rate is 90 or under. Fairly typical, as far as heart rates go. But when I came on shift after The Day of Awful Seizures, I watched as his heart rate went up and down, up and down while he slept. But by morning his heart rate was over 160bpm, despite him still being asleep.

His heart when he’s active and awake and happy is somewhere between 120 and 140. 160+ when sleeping with seizures indicated something was Wrong. Capital W.

Obviously being in isolation trying to figure out what to do adds complexity. Do we go into the hospital and get a review? Do we leave the safety of our flat, and take him into the A&E to get checked out?

Let’s be clear. At this point, we were mid peak. Thousands of people were dying a day. Four times that were testing positive daily. Outside our door seemed a dangerous place, and we were deeply distrustful of everyone. They could be asymptotic, they could share it and we could be facing something else. The risk felt huge.

Trying to figure out logically what was going on, I went through the list of the possible causes in my head:

Had he pooped in the last day, was he constipated?
Had he gained weight? Was his meds dosages off?
Has any of the meds changed brands/formula?
Had one of his meds oxidised and become unusable?
Was his glycine levels too high?
Or were they too low? Did he have Sodium Benzoate toxicity?
Did he have a fever, was he too hot?
Was he in pain?
Was he ill? Did he have an infection?
Was it a full moon, were the planets out of alignment (kidding, mostly. Sometimes it feels like there’s no rhyme or reason to these episodes despite me bending over backwards to figure it out)

A lot of those required blood tests and swabs to eliminate. After some in depth conversation with our CCN (community care nurse) we weighed up the risk. She called down to paeds A&E to assess the risk with what kind of patients they had on the floor and we talked to our neurodisability consult. And then we made the decision to go in. The truth is, with a heart rate that high, with having to sedate him for the first time in a long time and with an abnormally high number of seizures, he should be seen and reviewed. Just in case.

So we went. We assembled enough supplies for the day and for the first time since March, we all left the flat. Mikaere hadn’t really woken since the day before yesterday. He’d been having seizure after seizure. (I hate NKH. I hate it I hate it I hate it).

It was less risk for us to drive than take an ambulance, so that’s what we did. We faced an issue at the door, as only one parent is allowed to accompany a child at a time. We got around that later, by coming in separately to do a handover.

The paediatric waiting room was empty. The staff were careful to stay well back, and had gloves and masks. We were shown to a private triage room immediately. Sam and I were both able to stay through triage while we made a plan. Bloods, swabs and observation while we waited to see what his heart rate did.

We were eventually moved through to majors, and Sam left. I struggled. Sleep deprivation is a real thing, and I’d already missed the lunchtime nap that gets me through the day. Still, they did bloods and the swabs, and took away a urine sample. His heart rate came down, just a few beats a time. Mikaere was still sleeping, bar the seizures.

I also had a minor argument with the reg while he was taking bloods. Mikaere is hard to cannulate and never gets a cannula in on one go. He ends up with multiple bruises and scabs and it’s always awful.

The cannula they used to collect the blood wouldn’t flush (it never ever does). The reg wanted to insert a new cannula against the possibility he needed to be admitted. I argued that he may be causing my baby pain unnecessarily, that he might not be admitted and might not need the cannula. Also, that the emergency medication they’d administer was rectal paraldehyde and wouldn’t be going through a stupid cannula anyway. I insisted they stop. If he needed one later they could try later. It turned out I was right and saved my baby a tiny speck of unnecessary pain and suffering. It’s not often I can do that, so I’ll take it where I can.

While we waited, I convinced Mikaere to wake long enough poop, which was good. He wasn’t hot, not temp. He hadn’t gained any weight that would make his dosages change. We gave him a dose of calpol, just in case he *was* in pain. I was crossing off possible causes in my head. Watching as his heart rate came down a bit more.

And we settled in to wait for the blood results, my eyes constantly flicked between the sat monitor and Mikaere as we waited between seizures. Hours and hours later, the bloods came back clear. No infection (I’d hope so, we’d been in isolation for what felt like ever). Sodium, calcium, potassium all in normal range, so no indication of Sodium Benzoate toxicity. Glycine levels would come back in a week or so. Carnatine looked fine. Liver function fine.

Mikaere woke up enough to play with some toys shared (and disinfected) by the units play therapist. His heart rate was nearly in normal range, considering he was awake.

The consultant came down to have a chat with me. Essentially, he wanted Mikaere to be admitted on the ward for observation. Because we’d already given two doses of buccal midazolam, he’d hit his max 24hr quota. If Mikaere needed more rescue medication because of seizures, the next medication was rectal paraldehyde, as laid out in his seizure care plan.

The problem is that it’s not always easy to get on short notice. We didn’t have any at home (our stash expired, and it had been so long since we’d needed to use it). They had some on the ward, but wouldn’t be able to get any from the outpatient clinic.

If we left we’d be taking a risk. If he was admitted to the ward, we’d be taking a different risk.

We talked it out. Essentially I decided that between solo parenting for the entire night on the ward with sleep deprivation, Mikaere’s seizures decreasing and his heart coming down, and that we’re an 8 minute blue light from the hospital, we should go home.

The consultant argued until I asked if any of the nurses were sharing shifts across wards or working with covid positive patients. Then I asked how many kids on the ward had pseudomonas or rhinovirus or any of the other respiratory illnesses that would also be a danger to Mikaere. He shut up after that. I guess things on the ward weren’t ideal. We were towards the end of winter, so I’m not surprised.

Either way, Mikaere was discharged, with strict instructions about what to do if things got worse. Conveniently Sam had arrived and we went HOME. It was glorious to be back in the safety of our flat. After disinfecting ourselves with baths/showers/changes of clothes I went through all of Mikaere’s meds.

There’s one particular supplement he gets once a day, at lunchtime, called ubiquinol. It’s a supplement that supports cell repair and is a potent antioxidant.

However, the pharmacy had supplied ubiquinone, the oxidised form, which your liver needs to process into ubiquinol. Considering that Mikaere’s liver is already doing so much, and thanks to NKH, it’s not clear what exactly is happening in his liver, anything out of the ordinary could cause things to go sideways.

The horror of it was that because the dose required more capsules than was supplied in the packet, the pharmacist had supplied extras in a jar, and had mislabelled the jar ubiquinol and not ubiquinone (which was the drug supplied). Sam, who doesn’t usually do the 12 meds’ didn’t think anything of it. The jar had the right label on it, so it should have been the right med.

I was livid (with the pharmacy, not with Sam). Our prescription clearly states it should be ubiquinol, not ubiquinone. I kicked off a formal investigation and it turned out a locum pharmacist had made a mistake, and had thought there was no difference between the oxidised and reduced form. They didn’t have ubiquinol in stock, easier to substitute than order in. No harm interchanging them. He could have been right, in a typical patient. But let’s not make guesstimates when the patient has a rare metabolic disorder.

I was gutted, because I really like that pharmacy. They’ve been so good to us, and this was the first mistake they’d made in the three years we’ve been with them.

Luckily, the owner of the pharmacy knows us and was equally horrified. He implemented a whole range of safety checks to make sure it wouldn’t happen again (to us or anyone else) and the locum was let go. I’m sad someone had to lose their job, but I’m also frustrated that the safety, health and quality of life of my baby boy is so heavily reliant on others doing their job as they should, without guesstimates or convenience-based substitutions.

We stopped giving Mikaere ubiquinone, and the pharmacy shipped out ubiquinol quick smart.

To be safe, we also opened new bottles of meds we thought might have oxidised. Between having pooped, ubiquinol and unoxidised meds, Mikaere’s seizures eased, and we settled back into our regular routine.

Sam’s convinced it was the pooping. I’m sure it was the ubiquinone. It could have been some unknown pain/calpol. (In my head I can hear Kai’s Grandma telling us the moon was full). Either way, I’m glad we went in to get him checked out, but I’m more relieved that we all got through to the other side safe.

The special needs life is no walk in the park. Hey ho, onwards in isolation we go!

On meeting Deepmind

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Earlier this month I was invited to speak at Deepmind. It all came about in a roundabout way, because I was having coffee with a friend. She’s the best kind of friend. I don’t see her very often, but she’s that kind of person who can see the depth, acknowledge that things are hard and my heart hurts, but also move on and talk about lighter things, and things that are happening in her life. She doesn’t shy away from the hard and doesn’t let the hard weigh down everything else and I appreciate that.

She was talking about her work, and how for some, it’s hard to understand the real world effect of what they’re doing, which makes it hard to understand their purpose. Their why.

They’re all up in the code and the science, she said. When I asked what it was they were working on, she said ‘protein-folding’

I took a moment, just a beat, before I pointed at Mikaere. His entire disorder is because of protein folding.

Truth: it’s actually about protein misfolding.


Science sidenote: Your genes create little recipes, and your body, following these recipes creates protein chains of ingredients (amino acids). This protein chain folds in a particular way, and off it goes into your body to be used.

But, Mikaere has two little missense mutations. Which means that in his recipe, there are two wrong ingredients. These wrong ingredients go into the protein chain and cause the way it folds to be different – it misfolds – meaning it can’t be used.

Kind of like, if you have a recipe for cake, and instead of sugar you put in salt. The cake can’t do its job of being delicious.

Mikaere’s mutations mean in his little GLDC protein recipe, seriene is substituted with leucine and glutamine is substituted with lysine. So, when his body builds out this recipe chain of amino acids, the protein misfolds, and the protein can’t do it’s job in the glycine cleavage system.

Protein misfolding. It’s a thing.


When I said it, I could see something had clicked with my friend. Suddenly her day to day of high level theoretical science had a very real world meaning. AlphaFold – an AI system used to predict protein structure and how they fold – meant so much more with what it might be able to do in the future.

Which is how I found myself earlier this week at Deepmind. I’d organised to have Prof. Nick Greene (from UCL, he heads up one of the very few NKH Research teams) be there too, because I was positive there would be some intense science related interest I wouldn’t be able to talk to. (I was right).

Deepmind, they are so lovely. I was in a room with some very very smart people, and while our story was more the reality of NKH and protein misfolding, when Prof. Nick spoke about the Science (capital s, lots of big words), you could see the cogs turning. There were a lot of interesting science questions (which were well over my head) but that so many people were thinking about the multiple aspects of glycine related metabolism, that was exciting for me.

Even more exciting was hearing about the interesting things Prof. Nick is working on. YOU GUYS, the research that we’re fundraising has such a huge effect, and while I’m not privy to share (Prof. Nick is writing the paper now, so hopefully it won’t be too long before it’s out) I was really really excited about the real world applications, and what that might mean for kids with NKH in the future. Things are HAPPENING, Prof. Nick is learning so much about NKH and glycine and just – I have so so much hope. So much hope!

I was grateful to share our story with Deepmind. I’d gone in with the intention to share our story (because we want Mikaere to be known) but I hope I touched a chord. I’m hopeful that one day AlphaFold will be used to aid scientific discovery in rare disorders like NKH.

Also, sometimes it’s just a privilege to be able to share with people who have influence over things like this. I think AlphaFold is going to be huge for the rare disease science community.

So yes. Thank you Deepmind for having us!


On the Respiratory Care Plan

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One of the things we’ve added to our Keep-Mikaere-well line up is a daily nebuliser. It helps loosen any secretions in his chest and with some chest percussions and suction we’re able to remove some of what he isn’t able to do by himself.

This is one of those my-kid-has-low-tone things. Because he’s not upright, because he’s not moving himself about, his body doesn’t manage secretions and mucus the same way. The fight we went through to get the neb + the respiratory care plan was ridiculous. Requesting a referral to the respiratory team was a nightmare. We already have oxygen at home – which came from palliative, not respiratory – but if you have a kid who needs oxygen at home, SURELY it makes sense to be under a respiratory service?! There was months of asking and waiting and justifying and emailing and chasing up.  Honestly, the underfunded NHS has a lot to answer for.

But eventually, months and months after requesting we FINALLY got an appointment. We went, and we talked to a big fancy consultant who was very blasé because Mikaere has a metabolic based disorder, and not a respiratory based one. There is nothing wrong with his lungs, per say. Just his tone.

But, with his tone, he’s not always able to cough. And if he can’t cough, and mucus blocks his airway, his body overreacts, he gags and then vomits. This is clear problem (I talk about the daily vomits all the time, so you know this is a problem for us). So, we it talk through with the consultant, and then we’re palmed off to the nursing team.  I’m not sad about this, because anyone who has spent time in a hospital setting knows that it’s ALWAYS run by the nurses. The respiratory nurses were amazing and smart and in half the time of the consult we had a plan and things to try.

Thus, this daily nebuliser.  It’s not a short, easy add, though. It takes 15 minutes of entertainment in a chair, battling his little fingers as he tries to pull the mask off. Chest percussion is awful, he hates it (firmly ‘clapping’ your child while he cries is not fun for anyone. And before anyone gets on our grill, we have respiratory physios and nurses overseeing this particular bit of care). And then suction. We literally put a thin tube up Mikaere’s nose and down the back of his throat to suck out the secretions there, and then I hope that might cause him to might cough and we’ll catch the mucus and suck it out of his mouth. Sometimes we’re successful and his breathing sounds clear afterwords. Sometimes it’s less so and he sounds like he’s snoring because there is a stubborn mucus plug in his airway that I can’t get to.

But I have to say, I think the added care has helped. It’s not always an easy thing to fit in, but on days that he’s poorly and has a snotty nose – it makes the WORLD of difference. I think it’s just another thing we’re doing to help keep Mikaere as well as we possibly can.

Nebulisers and suctioning mucus plugs. Oh special needs life.

On making the boot work

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Fuck. I was putting Mikaere into his car seat when I felt his gastrostomy button pop out of his stoma. I heard his stomach contents dribble out and – fuck – was my first thought.

It was raining. It was just me and Kai and we were in the back streets of an unfamiliar suburb. I did a quick search, and sure enough, the nearest changing places facility (basically, a public toilet with a changing bench bigger than a baby changing table) is just over 15 miles away. Blah.

Mikaere’s button pops out all the time, and usually it’s no big deal. But we’re 40 minutes from home and I know he can’t have the button out for that long without it beginning to close. (Considering it was surgery to put it in, closing is not an option).

So, I do what I always do when I’m in a tight spot, which is move him to the boot of the car and take care of it. So I do, changing him, deflating the button and putting it back in with the gear we carry around with us in the emergency bag.

But I think how undignified for him. How cold and uncomfortable and just – not ideal for all of this to take place in the boot of my car, with the door pulled low to keep out the rain.

But the thing is, there aren’t enough safe places around where I could change him. Places with a long enough changing table to make it safe. Baby changing tables are everywhere, but they’re too short for him.

As I change him out of his vomity clothes, I think how awful that the quick, easy solution is here. Where anyone can walk by, where the breeze is cold.

I hate this. I hate that this is our life. The special needs life is just awful. I’m glad it was quick, but I wish we had the facilities nearby to manage without resorting to the boot of the car.

Also, as he gets bigger, the boot of the car isn’t going to cut it. What are we going to do then?!

On of course we ended up in hospital

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I wish I hadn’t said the bit about a&e in that last post. I didn’t meant to put that out into the universe.

I called the patch team (they’re our out-of-hours nurse team, who are on call in those hours when no one else is available), just for some reassurance that we were doing the right thing and she immediately suggested we call an ambulance. Despite us keeping his O2 stats up in a good place, his heart rate is too high. His respiratory rate is too high. He’s working so hard to breathe.

So here I am, blue lights flashing, in an ambulance. I can’t figure it out. He’s got a cold, but his chest is clear. We saw the gp 6 days ago, the paediatrician 4 days ago,  and now today we are being blue lighted into hospital.

Why is he working so hard to breathe? Why why why?!

And then we’re down the rabbit hole. How do I prevent this from happening again? How do I take care of my boy? How do I do this?

(And then, if we’re getting really dark together, how do I manage if it turns out I can’t do anything, that I can’t help him breathe, that I can’t help his heart beat slower, that I can’t stop him from being ill).

Kai’s just vomited all over the ambulance. Fuck.


After a few hours in the a&e, I’m in a showdown with the registrar. Bloods have been taken and don’t show anything of concern. The chest X-ray is clear. We’ve taken swabs cause clearly he has cold of some kind, but it will take a few days to grow those cultures.

The registrar wants to admit Mikaere for observation. I want to take him home. We have everything they have up on the ward, we have a night nurse tonight and he’s more at risk of catching something else on the ward than he is at home. Home is safer. It’s also only an 8 minute blue light ambulance away from the hospital.

I know I’ve won the stand off and he’s coming home when I ask what they would do here that we can’t do at home, and she doesn’t have an answer.  What would they do if he got worse? No answer. Depends on what the ‘worse’ is, apparently.

The registrar has gone to speak to the consultant. We’ll see. I might be be in a showdown with the consultant next. But I genuinely believe that the best place for him is home. That it’s safer than on the ward. I get the impression there aren’t that many parents who fight the authority of the registrar, but here I am.  Let’s hope the consultant on call either see’s common sense, or is too busy to want to cross words with me.

Update: We were discharged, with strict instructions to come back if things get worse. They gave us loose definitions of what ‘worse’ looks like, but really it’s just if he doesn’t improve, if his heart rate stays “too high”(but again, didn’t give a firm definition of what “too high” looks like and he can’t hold is O2 levels, we’ll go in again.  Our community nurse will come see him tomorrow, and the day after, and every day until it’s clear he’s on the mend. We’re going home! Thank fuck.


On the research happening in the UK

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Woo! Research update!! One of the super cool things is the number of NKH mice models that are being used at UCL, that Prof. Nick Greene and his team work with.

They now have THREE mice models (more than any other research team) which is phenomenal. They’re all in the GLDC gene, but they are all different in severity. This means they can study different aspects of NKH and see how different treatments work with the different models.

Quick science aside: In every cell in our body, the cells read part of our dna (called genes) and use that as a recipe, make a protein. That protein goes on to do a specific job within the body. In NKH, if the child has a mutation in the GLDC gene, the GLDC protein is broken and the child is unable to process glycine. 

The mouse models are designed to mimic NKH – these mice are bred to have mutations in their GLDC genes so they are unable to process glycine, just like our kids.  Prof. Nick and his team have three working mouse models:


These Mice have a ‘gene-trap’ – a magic genetic switch that allows the research team to have the GLDC gene either create the GLDC protein, or to turn it off so it doesn’t. 

When it’s off, these mice have NKH and present very similar symptoms like our kids do. They have higher levels of glycine in their blood, urine and body tissues, and about half the mice live for approximately 3 months. In the liver, they have perhaps 10% functionality of the GLDC protein (someone who doesn’t have NKH would have 100%).

The bonus of being able to turn the gene trap on and off is so they can understand how the glycine cleavage system works in different places in the body. It also means that if they turn it on (so the mice a producing the GLDC protein correctly), they can simulate what effect a working treatment might have.

(Side note: don’t be intimidated by the name. GLDC is the name of the gene. GT presumably stands for genetrap, and because they have 2 and this is the first, there is a 1 on the end)


This is another gene trap mouse model (where they can turn the gene on and off), but this one completely prevents all GLDC gene expression (0% functionality of the GLDC protein). Very few mice survive after birth – this is a more severe model than the previous model.

By having a model that doesn’t produce any of the GLDC protein, they can see what the biochemical and metabolic effects are. This is huge for understanding what NKH does, and how it works. 

Gldc missense mutation

The team were able to create a model that has a missense mutation – a mutation that changes one ingredient in the NKH recipe (imagine replacing sugar with salt in a cake recipe, for example. The cake can no longer do its job of being delicious. Similarly, if the recipe for the GLDC protein is wrong, it can’t do its job processing glycine).

This is very similar to the kind of mutation a lot of NKH kids have. In fact, this is a known mutation, there are children with NKH who have this exact mutation! 

This model is used to test treatment options, and to better understand NKH progression. This is also huge, because if a treatment option works well with this model, there is a chance it would also work well with our kids. 

When I spoke to Nick last he said we know more about NKH now than we ever have before, and a lot of that is because of these models.

You guys, were so lucky to have Nick and his team on our side! He’s literally so far ahead of everyone else (side note: he’s already three years into gene replacement therapy research using these mouse models. I know the Drake Rayden Foundation are fundraising right now to kick off the exact same research that Nick’s already done.)

For everyone that supports #teamMikaere and Joseph’s Goal – this is where your money goes. This is where the life changing research is happening. This is where change is happening. So thank you, thank you thank you to everyone who has ever donated, bought a book or a tshirt or made a justgiving page! You guys are the best! 

PS – The Charity Fun run is happening on the 28th of September in London. Looking for both runners and volunteers! More at www.nkhcharityrun.com 🙂