Tag

emotional pitfalls

Jul 27
0

On the The Online Charity Pub Quiz

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TLDR: Quiz was a raging success. We’re extending the quiz slightly for the next week for those who couldn’t make it – for a £5 donation, if you can correctly guess the movies and characters from the picture rounds, we’ll put you in the draw to win a surprise, silly, light hearted prize.  Photos under the post!

Donate here:  http://paypal.me/teamMikaere
Draw will be made on Friday 31st.
Rules: Open world wide. Add your answers in the note (please also untick the goods and services box, else the transaction fee will come from your donation).  Donations will be matched, so please dig deep!

Additional side notes: #5 – any of the movies he appears in is fine. It’s hard to know exactly which film this image is from!

———

WELL! I don’t even know where to start – the online pub quiz was a raging success!! Tony and Tess did a PHENOMENAL job of running our quiz. The rounds were hilarious, some questions were easy, others were more difficult (we’re rubbish at quizzes, so I was pleased to be able to answer some of them – though I found the music round to be particularly entertaining!)

There was an NKH round which, if I’m honest, I struggled with. I did a bit of a spiel and honestly, I hate doing the spiel. We do it because spreading the word about NKH and the realities of it is important, but oh. Telling people your kid has a terminal disorder, and is likely to die and lives a really grim reality is emotionally hard. I’ve been doing the spiel for over three years now, and each time I get teary. It’s important that people know, but oh. It’s so hard.

We’re grateful that people are kind, afterwards so many people sent a lot of lovely messages sending their love and support. It sounds really stupid, but making ourselves vulnerable, and opening ourselves up – even at just a quiz – it’s really really personal to us.

I had to take a mini break mid quiz after the spiel, it’s been a long time since I’ve had to say out loud, to an audience what life with NKH is like. Listing symptoms and average death ages and just – just how limited life with NKH is. We try so hard to put a positive spin on things, because how else do you live with the day to day of grim? But peeling all that back and being truly honest,  it cuts down all the defence mechanisms I’ve put in place to manage.

But, like I said, we have hope (and I hold so hard to that hope it’s ridiculous). In research, and a gene therapy cure and that one day our reality will be a thing of the past for families like ours, because life with NKH WON’T EXIST.  There will be an EFFECTIVE TREATMENT! (I’m getting shouty, because the idea that kids won’t need to suffer seizures and developmental delay and be severely disabled and die because of NKH is HUGE)

Which is why I do the spiel, even though it’s hard. Because the hope and the dream is worth it.

I’m grateful for Tony and Tess smoothing over my emotional moment with grace and kindness, acknowledging the hard and gently guiding the tone of the quiz back to fun and light while not taking away from the purpose. Honestly, they’re such pros.

And YOU GUYS! We raised £1880, which will be matched, thanks to Tony’s employer.

But we think we can raise a smidgen more (the NKH cure dream is strong, you guys). So we’re opening up the Picture Round for everyone who couldn’t make it on the night.

for a £5 donation, if you can correctly guess the movies and characters from the picture rounds, we’ll put you in the draw to win a surprise, silly, light hearted prize.

Donate here:  http://paypal.me/teamMikaere
Draw will be made on Friday 31st.
Rules: Open world wide. Add your answers in the note (please also untick the goods and services box, else the transaction fee will come from your donation).  Donations will be matched, so please dig deep!

Additional side notes: #5 – any of the movies he appears in is fine. It’s hard to know exactly which film this image is from!

Side note: if you’d like to donate and not play, thats okay too. If you’d like to donate more than £5, or less, we’re grateful for any contribution!

Please get involved, we’d love to hit the £2500 mark.

Again, thank you to everyone who came to the quiz. We had 37 teams from all over – in NZ, the US, the Netherlands, Scotland, England. It was mind blowing. To everyone who donated and sent messages and was so clearly on Team Mikaere. We love you guys. We couldn’t live this life without your support x

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How to play:

  1. Make a donation to: http://paypal.me/teamMikaere
  2. In the notes name the movie and character!
  3. (Surprise, silly and light hearted) prize drawn 31 July
Jul 03
0

Lets Get Quizzical – Online Charity Quiz!

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I’d thought I’d talk about the seizures. They’re awful, and they come with so much helplessness/guilt/fear, but my heart today is not up for it. I don’t want to talk about stupid seizures and how they steal everything and how I hate them (and NKH, so so so much!)

So I’m going to do what I always do when things look bleak, which is to say oh hey, fancy helping us fund a cure for NKH by coming to an (online) charity quiz?? (Please come!)

A lot of our fundraising events have been cancelled this year, for obvious reasons (2020, wtf?). We’re gutted, not because of the lost donations (though that hurts), but because usually our fundraising events are an opportunity to hang out and connect with people who care about the same things we do. Isolation, it’s a whole crazy thing. We really miss hanging out with people, and that lack of in person social support has really taken its toll.

So, together with the amazing Tony and Tess, we’re doing the Charity Quiz ONLINE  from the comfort of your living room. Which basically means, wherever you are, you should come join us for the quiz.

It’s on Friday 24 July, 8pm BST (check what that means in your time zone at World Time Buddy). You’ll need a laptop/tablet (ideally with a webcam so we can see you!). Buuut I figure if you’re seeing this, you’re probably a technology literate person.

We’re asking for suggested £10 donation per person (although that’s a suggestion, you’re welcome to donate more, or less if £10 is a stretch!) and you can sign up at: http://teammikaere.com/blog/campaigns/lets-get-quizzical-2020-nkh-charity-quiz/

How it works:

  • Download the Zoom app to your phone or go to the site on your laptop: www.zoom.us and create a free account if you don’t already have one.
  • You’ll need pen, paper, snacks and a drink!
  • Your team can be just you, or everyone in your household
  • You’ll be emailed a link to a google spreadsheet to add your team name, and the zoom link.
  • 8:00pm to get everyone online. Questions will start at 8:15pm!
  • We’ll do 5ish rounds, keeping it light.
  • There will be spot prizes and a grand prize, but we’re operating on honesty, so please don’t google the answers!

At playtime:

  • Add your name to the google spreadsheet tab (spreadsheet link will be emailed to you!)
  • You’ll need to score yourself, and add your points to tab 2.

Anyone can join, the more the merrier! Invite your friends, spread the word. There will also be silly spot prizes, and an NKH round and generally fun times all round.

All funds, as always will go to Joseph’s Goal, who in turn fund Prof. Nick Greene at UCL and his team of NKH Researchers.

Please come join us, it’ll be a great night. There will even be a Mikaere-in-costume movie round, which you’ll DEFINITELY want to see.

Also, being surrounded by people who aren’t this minute being besieged by grief and seizures and the downside of living the special needs life will do my heart some good. We’ll take as many positive and upbeat moments as we can.

So, Friday 24 July? See you there?

Jun 24
0

Is it safe? Can we go outside yet?

By | #teammikaere | No Comments

This photo is as much of the outside as we get right now, our little 1.5×3 balcony. As lockdown in the UK is easing significantly, I keep asking myself if it’s safe to rejoin the world yet. Is it safe is it safe is it safe?

Hairdressers are to open, as are cinemas and bingo halls and theme parks. Pubs and restaurants are opening indoor service. The UK gov has even given the go ahead for people isolating, like us, to return to normality (with social distancing) from August.

But what is social distancing? Apparently it’s two metres, except when you can’t do two metres, so one metre. Except no one is going to bother with that, are they? In shops or on footpaths or in any situation where it’s inconvenient.

The thing is, the government is all for opening everything up, but an open letter published in the British Medical Journal has said “available evidence indicates that local flare-ups are increasingly likely and a second wave a real risk”. It calls for a review, which among other things, should identify current weaknesses where “action is needed urgently to prevent further loss of life”.

It was signed by the presidents of the Royal Colleges of Surgeons, Nursing, Physicians, and GPs. The bodies of people who inform the government.

The other thing that gets up my grill, is that yesterday the prime minister, good old Boris, said he did not believe there was “a risk of a second peak of infections that might overwhelm the NHS”… can we take a moment to point out that his concern was for the NHS, and not for the many many lives that would be lost with a second peak?

Yesterday the number of additional deaths due to covid in the UK was 171. The number of additional confirmed cases was 874.

Hundreds of people are still dying everyday from covid. Hundreds more have a positive test result. And sure, it’s not the thousands that we saw in peak, but does that make it safe, for us?

Can we go out, for walk, to the supermarket, to appointments, and feel safe? Can Sam go back to work? Can I got meet friends for coffee? Is it safe is it safe is it safe?

How do we know that our baby boy isn’t going to be snatched away by a respiratory virus? How do we know we aren’t coming into contact with people who are asymptotic?

The tricky thing is, we obviously want to go outside. We want to be able to shop, and go for walks and see our therapists. We want to be able to sit in the park, and go visit Sams family and be able to go down the road and get a coffee. Made by a barista with the fancy machine, with milk FOAM and a take away croissant, and eat it at a table while watching all the people! (It’s been a very long time since we’ve been out and about).

Is it safe, is it safe, is it safe?

See, I don’t think it is. I don’t think the virus has been eliminated, I don’t think the numbers are down enough to make going out a negligible risk, and I don’t trust the government to make decisions that are best for us. In fact, in 95% sure the government is setting out policy that that puts the economy and ‘feel good news’ ahead of evidence and consultation with scientific bodies (in addition to being very clear: loss of life of the vulnerable is not high in their list of priorities).

I’ve read so many interviews with academics that all caution risk (example, Prof Stephen Griffin, who is a virologist at the University of Leeds was very clear, “we have not eliminated this virus or suppressed it to what I would say is a safe level.” The people who study viruses are very very clear, saying it’s not safe.

It’s not safe.

That in general, there are still so many local community level transmissions, most of which are unknown and not tracked because the system is not especially efficient (sure, they can know you had coffee with your sister day before yesterday, but can they track everyone that was on the bus you used to get there? And everyone those people have been in contact with?).

It’s not safe it’s not safe it’s not safe.

It’s not safe.

And I hate that. Because EVERYONE ELSE is out meeting their friends and family and being outside and enjoying the summer. Everyone else is making hair appointments and picking up BBQ makings and enjoying pitchers of Pimms, and walks in the parks and ice cream from ice cream trucks. They can browse supermarket aisles at their leisure and go shopping. They can be outside and go for walks.

And it would be so so so easy to join them. To trust the government and put Mikaere in his buggy and go for a WALK. OUTSIDE!! (The ecstasy of that statement requires the overuse of capitalisation).

But it’s not safe.

The other thing is that I don’t know for certain what “safe” is. Is elimination a realistic goal in the UK? The lack of community transitions? Significantly reduced transmission numbers? Is it when the scientific bodies say it’s safe?

I just want to be able to go outside and live our lives without the fear that our son will catch a virus that will kill him.

It also desperately makes me wish that we’d somehow magically managed to move to NZ, so we could be there. In a country where they’ve eliminated covid within the community, and the leadership are being decimated over the few cases they have (they have 32 positive cases. So few in fact, that their daily stats briefing shows you where they are, their age, sex and what flight they arrived on).

But we’re not there, we’re here. (It could be worse, I guess we could be in the USA, whose death rate surpasses every other country and is in the millions, whose peak is rising and yet is still opening everything back up because the economy > people’s lives).

But also, if we’re making wishes, I’d wish our baby boy didn’t have NKH. That NKH wasn’t even a thing that existed, and no one, ever, had to suffer under it’s influence. I’m fully aware that there’s about as much chance of that happening as there is me taking Kaikai for a meandering walk outside today.

Hey ho, onwards (in isolation!) we go.

Jun 19
1

On the A&E during lockdown visit

By | #teammikaere | No Comments

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!

Jun 17
2

#blacklivesmatter

By | #teammikaere | No Comments

I opened the app today to talk about Kai’s trip to A&E during the lockdown. But first – I don’t know, is it okay for me to talking about things that aren’t about racism/#blacklivesmatter?

Perhaps it’s that we’ve been on a break, but our feed is full of demands and action requests and righteous outrage and my instinct is to pause. It’s not that we disagree with the movement, because we support it whole heartedly. But more – should we be shutting up, and making room for others who are more knowledgeable? Who have more important, movement making, educating and enlightening things to say? Whose voices, so long ignored, should be amplified?

The other thing is, I don’t identify as white, but as a person of colour. I’m Māori, and in NZ that comes with its own, very distinct level of racism. The history of Māori oppression is still very real, and I grew up hearing about how my grandparents actively lived it. Even in the present day it exists, being followed around in stores to make sure you don’t steal anything, being told you’re unlikely to ever graduate university, and that you should just join a gang and get it over with as you’re going to end up either in jail or on the benefit anyway (all true stories, all mine). Ironically, I’m on the carers benefit now, thanks a genetic mutation that is common in the Maori/Polynesian population so I guess they weren’t 100% wrong. Their malice was out of line, though.

In the UK, I’m not seen as Māori. I’m seen as white, even though I don’t identify that way. And the world of privilege I experience here is striking in its differences. I hadn’t realised how systemic and ingrained the racism is in NZ until I didn’t have to live it. Our visits back have been enlightening.

I’m very proud to be Māori. I gave my baby a te reo name (even if most people here can’t pronounce it and call him ‘food’ (Kai) instead), and I sing to him in te reo, and have interchanged some English words for te reo words in our daily life. Passing on a little, tiny bit of my heritage and culture.

I feel like there is definitely a global movement happening, and as Māori it resonates in a way I can’t explain. So while I don’t want add to the noise, I do want to be clear about our stance.

We stand with our black friends, family, colleagues and community. We’re trying to learn, to educate ourselves and how to listen. We’re thinking on how to positively contribute to long, overdue change. But most of all, we’re willing, and we’re here, and we lend our voices in solidarity for the need for change against racism.

#blacklivesmatter #wearewithyou #sayhisname

Jun 15
1

On Isolation

By | #teammikaere | No Comments

Hi hi! Gosh, it’s been a while. We’ve been in isolation since mid-March (today is day 99 in isolation). I know our radio silence has bothered some people (thanks for checking in!) but we’re safe and sound.

We decided to take a step back from social media. Isolation has been quite tricky for us. Sam and I are both incredibly sleep deprived – we don’t have the privilege of our night nurses (we miss them!). Sam and I are sleeping in shifts (I get to sleep 10pm – 3am and a nap at lunch) but the risk of having people in and out of our home isn’t worth Mikaere’s health. Children his age with similar health needs have died, and next to that what’s 99 days (and counting!) in our little apartment?

Social media during this time has been really really intense. It hasn’t been the usual positive connection with the world. It’s become a platform for opinions we don’t share (#blackLivesMatter not #allLivesMatter, and it’s not #justTheFlu. We’ve unfollowed a significant number of accounts as a result) and watching others trade authenticity for glossy perfection #blessed highlight reels is the opposite of why we’re here.

We treasure genuine connection – sharing our reality in a way that’s authentic. We share a tiny segment of our reality, the ups and down, and this little break has really emphasised what kind of relationship we want to have with everyone here.

So I’m glad we stepped back, but I’m sorry to have worried so many of you! (Again, thanks for checking in, you guys are the best). But while we’re struggling, we’re doing okay. We’re safe.

Honestly, it hasn’t been an easy ride. If I’m being really honest, I’m still angry that we live the special needs life. That it’s riskier for us to be out and about than it is everyone else. That other kids get to go run around the park once a day, and we do little tours around our tiny apartment again and again and again. That others can go out without worrying whether their child will catch something that might kill them. Blah.

Isolation has mostly been a matter of keeping on keeping on. We’re very much about just getting through each day, and keeping our little guy entertained. Some days there’s therapy, a lot of days there isn’t. Sometimes there are fun sensory games with paint and shaving foam and ice cubes in a tray of warm water, sometimes Mikaere’s on the floor with a balloon and we call it good.

We’re managing. Our pharmacy delivers, as does our supermarket. We have a wonderful group of local friends who have been really great about supplying the gaps. For all the people asking, yes my hair has grown. I am no longer bald and have a respectable if unkempt pixie. Sam’s able to work from home (a privilege, I know!) and bar one unexpected a&e visit (oh seizures) we’ve been able to stay in.

Because here’s what I know: as long as we’re in our apartment and the rest of the world is outside, we’re safe.

We’re also in a position where we don’t trust that the government advice is whats best for our family. Our current government has shown repeatedly that they value the economy over the vulnerable, elderly and disabled. That they’re okay to risk their lives for everyone else, and we’re not okay with that. Every medical report that’s been released has been clear that lockdown is easing too soon, and we agree. So despite ‘shielding rules’ allowing outside walks – we’re not going out. And I know we’re not the only special needs family doing the same.

With schools coming back, and unessential shops opening, we’re going to continue to isolate for a few more weeks until we can see that the danger of a second peak has passed. Got my fingers crossed that a second peak doesn’t happen – I can’t tell you how much we miss the outside world.

Until then, what have we missed? How are you? What news???

Mar 16
0

Covid-19 and Self Isolation

By | #teammikaere | No Comments

So, we’re self isolating in the light of Coronavirus. Sam is working from the spare room, all appointments have been cancelled, all nurse support has been put on hold for the next week or two, and we’re staying in. Just us three.

For us, Mikaere’s respiratory health is a priority. When he gets poorly his o2 sats drop, his heart rate goes up and he has more frequent seizures. When he got rhinovirus we lived on the ward of our local hospital for weeks until I could convince them that he was safer at home (we have all the equipment they have on the ward at home, without the hospital super bugs). But with Coronavirus? If he got it, and needed ventilation, that wouldn’t be ICU for us. Instead that would mean hospice on end of life care. Because Mikaere’s emergency care plan, as set out by us and his palliative care team has said that if he needs ventilation, that’s too extreme a step.
So you can bet we’re self isolating. When your son is the vulnerable camp, you be as risk averse as you possibly can, we’re not risking health. We’re being safe, as safe as we can be.

So here we go! Self isolation. Hope you’re all well and safe!
#nonketotichyperglycinemia #nkhcansuckit #specialneedslife #nkhawareness #coronavirusuk #cureforNKH

Mar 06
0

On the Research

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After that Deepmind post, lots of people reached out for an update on what *was* happening in the world of NKH Research in London, and I thought I’d share. It’s important to know that the money we’re raising is having a huge effect on the research done here in the UK.  While I can’t speak for the other researchers (Dr Van Hove or Dr Katsuri Halder specifically), I do feel it’s important to note THERE IS RESEARCH happening (despite what that recent article by the Clemson World Magazine would have you believe).

There is A LOT of research happening, and it’s my genuine belief that Prof. Nick is the closest to meaningful clinical trial, with a treatment that will effect the most kids.  But I’m getting ahead of myself.

Essentially, the team under Prof. Nick Greene is trying to do two things:
1 – understand more about how NKH works, and the effects it has
2 – discover potential treatments for NKH

 

Goal 1: Understand more about how NKH works, and the effects it has

There’s so much we don’t know – the carbon folate system (within which the glycine cleavage system lives) is really really complex. There are hundreds of amino acids – glycine included – which are split and joined and run through so many different processes. Super complex. Have you seen what that looks like? Here it is:

Source: Prof. Nick Greene, UCL

Truth: we don’t fully understand the how the whole system works, or all the roles glycine plays. This means it’s even harder to understand the knock on effects in a child with NKH. In the last year or so, Prof. Nick and his team have been using mass spectrometry (a really fancy science-y way to measure amino acids as they are processed) to follow glycine, and around 900 other different molecules in the brain and liver at different stages of NKH. They’ve been doing this in two different models – mice models, and in little cell samples grown from patients with NKH.

They’ve followed literally thousands of metabolic pathways. I had no idea that glycine went on to do so many things. It even joins up with other amino acids, like hexanoylglycine or propionylglycine or N-octagoylglycine (there are so, so many more). With excess levels of glycine, you can bet that all these other amino acids also have excess levels, which causes a knock on effect.

This small project alone – identifying all the metabolic pathways of glycine – costs £50-100k per year, but here’s the thing – they know more than they ever have before about NKH, giving insight into what’s happening with our kids. This is huge! It also speeds up the process, because it gives the research team clues about where in the process a treatment might work best. Knowing that means a faster route to clinical trials.

Which is everything – obviously we all want a safe and effective treatment for NKH. Which brings us to the treatment section.

 

Goal 2: Discover potential treatments for NKH

To get the treatment from research to people with NKH is a bit of a process.

First, they need to show ‘proof of concept’ in a mouse model. Nick has three mouse models.

Two are gene trap models, which means they can turn the GLDC gene on and off (with magic science). One model completely prevents GLDC gene expression, and the other allows approximately 10% of the GLDC gene expression, which allows the range of symptoms we see in NKH. The third is a missense model, which has the exact same mutation as a child living with NKH. This isn’t a gene they can turn on and off, these mice have NKH in the same way as our kids do.

Prof. Nick has two treatment projects at this ‘proof of concept’ stage. It’s very very exciting. They’re both in gene therapy – what this means is he’d like to place a working gene into a cell that is currently has a broken gene (thanks to an NKH mutation).  What that means is the cell will be able to produce a stable protein, which brings the whole glycine cleavage system up online. Hallelujah! Also, to clarify, this is an effective treatment for EVERY child with a mutation in that gene. Whether it’s a missense mutation or a deletion.

The tricky bit is getting the gene into the cell. They use fancy technology called vectors, which are actually viruses with the bad stuff taken out (it’s kind of like hijacking our immune system. Viruses attach to our cells, depositing the bad stuff that makes us sick. Our body fights them off, and writes a little reminder of how to avoid that particular virus in our genes). Instead of depositing bad stuff, the virus will deposit a working gene!

None of this is new, by the way. Nick’s team are working on it, and have been working on it for the last three years – which is so important for people to know. There’s a charity that’s fundraising millions to REPEAT this work that’s already been done. If you’re in the community you’ll know who, and I suspect the reason they’re doing it is so they can direct the clinical trial specifically to their kids, but for me, it feels like a waste of money, repeating existing research.

I don’t want to fundraise (which is really really hard work, btw) to have existing research replicated. I want to fundraise for the team that’s going to get to clinical trial the fastest, which bluntly, is Prof. Nick’s team. It’s why we support Joseph’s Goal, as the only charity that supports Prof. Nick.

Now, Prof. Nick’s team don’t have gene replacement therapy down yet. They’re exploring with two different vectors – AAV vectors to target the brain and lentiviral vectors to target the liver (AAV + Lentiveral are just different kinds of viruses. Like say the man flu + regular flu!). There are many questions – which is the best vector to use? Is one enough, just the brain or just the liver? Do they need to do both at the same time? Will it work? Will it be safe?

This is why they need to a do a proof of concept. They have the mouse model ready to go (a huge undertaking in itself) but it’s going to cost roughly ~£2.5 million to get through to clinical trials, and around 2-3 years, if they’re funded, and if the safety and ethical regulators who patrol this type of work are kind.

Speaking of, the second step in getting treatment to clinical trial is the safety step. The team needs to show that the treatment is able to be ‘produced’ at a scale appropriate for patients the world over (meaning, safe for humans. It’s what they call ‘clinical grade’). It requires plenty of safety studies to demonstrate this.

Prof. Nick’s team have another project to do small molecule work that is almost at this point. ‘Small molecule work’ sounds very high level science – but the idea is that there will be a pill (or powder?) of some sort that might be more effective, or might have less side effects (we hope!) than the existing treatments (aka, Sodium Benzoate). The study they’ve done in the mice has been very very positive, and everyone is cautiously optimistic.

Nick is currently talking to regulators about what kind safety studies they would need to do to get to this point. He’ll need a study to confirm it’s effective (costing ~£35K), and another study to check for long-term safety/possible side effects (costing another ~£30k) which might take 12-18 months. He’ll also need to find a clinical grade (read: safe!) version of the medication to test in the trials.

Then, the third step is to go to a clinical trial. May it happen sooner rather than later.

So, in summary Prof Nicks team are:

  • Using mass spectrometry (and other tests) to follow glycine around the body and understand what happens when there is too much glycine
  • Trialling two different vectors (one of the liver, one for the brain) in gene replacement therapy as a treatment option
  • Trialling small molecule work as a possible alternative to sodium benzoate.

It seems crazy to me that a proper, effective treatment (gene replacement therapy) is less than £3 million. That all that’s standing between us and a significantly improved quality of life is MONEY. It’s also not even that far out of reach, is it? If every person in  London donated a £1, we’d have the funds three times over.

So. We fundraise. You know we’re fundraising. We’re cutting our hair. We’re eating chicken nuggets. We’re doing an NKH Race Night. We might raise between £5k – £6k between those three fundraisers (which awkwardly all happen on the same two days).

That’s approximately 2% of whats needed, but I genuinely feel like at least I’m making the effort. I’m trying. With all the desperation of a special needs mama who wants a future with her son. I’m two feet all in, desperately trying to fundraise. This past week we managed to raise almost £8k with our fundraisers that happened across the weekend. A mere drop in the ocean. Hey ho, onwards we go.

Feb 07
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On the NKH Community

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The thing with NKH being so rare is that we don’t get to hang out that much. There was a group hang out in the UK up north towards the end of last year, which was beautiful and so emotionally out there. It was a delight to see everyone (I even got cuddles with some of the other kids, which was such a privilege! Antonia, my heart!) but also – I felt the gaps. The kids I missed and were still grieving.

Still, we chatted and caught up and cheered the milestones and discussed meds and therapy and equipment. We talked about what people were struggling with and had some quiet moments with tears.  There was also the unexpected delight that I was in a whole room of people who knew how to look after Mikaere. Do you know how rare that is? Being able to pop to the loo, or have a conversation without being hyper vigilant, because there are at least three other people also hanging out nearby?

There was also a video group chat last month, organised by Kristen (from NKH Crusaders).  I was the only one from the UK who called in, but honestly – it was so nice to chat and talk and just – be with people who understand.

In both cases, the call + the meet up, it such an emotional balm. Because they were a safe places,  I could ask those questions I’m wrangling with.

Like – seriously. How do you deal with grief and loss? How are we meant to SURVIVE this?! There are parents who have 7, 10, 15 YEARS of living with NKH under their belts – HOW ARE THEY DOING THAT?! Because honestly, that our current life might last that long seems overwhelming and impossible. That Mikaere might die, and we won’t reach that long is downright inconceivable.

The notes I took after both are disjointed and all over the place: “Focus on the good, focus on the day to day.” and “The stress doesn’t go away. The same old same old, the story doesn’t change, but when our day to day is still a challenge, that’s hard. “ or “It’s hard, there’s always loss. Grief is devastating. “ and  “We still have the thoughts, the negative fears, and then the hope. The hope lives everyday.”

And the thing is – all those notes are high level, it-is-what-it-is type statements. They’re living the same life we are, with the hard and the grief. What I’m struggling with is that I don’t think there is anything I can do to relieve the pressure of palliative, special needs life.  I think we feel the pain, and onwards we go because there is no other choice. There is no way out but through it. We love our children, and our children have NKH and it is what it is.

Maybe that’s my problem. I’m looking for a fix, I’m looking for a way to relieve this discomfort, this phase of life. Because thats what we’re taught, right? If you are unhappy with a facet of your life, it’s up to you to make change. It’s up to you to learn more, do more, make change to better yourself. Pull yourself up by your bootstraps, work your way upwards. Do the work: be in a better position. We reward that kind of ‘go-get-em’ stereotype.

But what if there isn’t a way to ‘fix’ the discomfort? What if the end goal isn’t change and growth, but to endure?

Even typing that makes me uncomfortable. It makes me squirm, because I don’t want to live in perpetually in grief. I don’t want to endure the stress of the special needs life, or the stress of my baby dying. Would it feel less awful if I stopped trying to fix the unfixable?

But, in the same vein, I don’t know how to accept the unacceptable.

It was easier to manage when the conversation moved on to research (apparently mice in sterile areas are getting infections they shouldn’t?) and then onto fundraising. I feel like I was talking to the pros of NKH fundraising. We do what we can (you know we’re branching out a bit more now we’re doing things like the hair shaving + the NKH Chicken Nugget Challenge).

To be honest, with each event I feel if we can raise £100, £500, £1000 pounds, every single bits helps. Every single pound makes me feel like doing I’m something, helping change our lot towards something positive. It’s not the $20k fundraisers some of the others are doing (how do they do that?!), but we’re doing the best we can. The thing is, fundraising makes me feel like we’re moving forward towards something. We’re making a difference. If I can raise £5 – that’s everything.

So yes, here’s to wonderful company with our tribe. Oh NKH community – we love you, and we’re so grateful for you. It’s such a comfort to know we’re not alone. That we’re not the only ones thinking the hard thoughts and feeling the fears. <3

Left to right:
Daisy’s Dairy with NKH, Team Mikaere, Joesph’s Goal, Jack’s Journey + the amazing Doms!
This isn’t everyone who came, but only the segment where some of us managed to line up.

Feb 05
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On ANOTHER nursery update

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The complex needs panel. Woah. Buddy.  Where do I even start? The local authority is it’s own special maze. After chasing when the panel was (which felt like a mission. Our educational psychologist, the person who is the family contact through this process left. We were allocated a new one, but weren’t told who they were. We weren’t even told the old one had left, and heard through the therapy grape vine. Ironically that’s also how we found out about our new person, who had mentioned someone else about an aspect of our case!)

Anyway, we had a date. Finally. I showed up early, and nervous.

I walked into the panel room with Mikaere. It was a meeting room, with a big square table. There were ten people sitting across the three sides, leaving one side for the two of us. Intimidating af.

They introduced themselves to one, one at a time. There was the panel chair, that days health rep and social rep. Three people from Lovely School (the head teacher, the early years teacher and the head of therapy), and then a mix of other people on the panel (a parent rep, our educational psychologist and a few more people whose names and titles and what they did flew over my head).

It was intimidating, but I’m lucky in that there was a friendly face I knew there, so that was positive.  After a lot of talk about what the current package was, how it wasn’t appropriate for Mikaere was debated (and agreed) there was more discussion about what kind of package *would* be appropriate for us.

Here is what it comes down to:

  • They’re giving us 15 hours (which is split across three hours, five days a week). Knowing that there is no way he’d be able to manage, we’re fine to use, say only 9 hours if we want to. The idea is that we should be able to build up to 15 hours.
  • If he’s not there full time, we shouldn’t rely on the therapy through school, and it should stay with the community team until he is at 15 hours a week.
  • That means that he needs extra funding to cover equipment.
  • Also, they want someone to work with him 1-1. A nurse to cover seizure care + the blended diet.

That was all fine.

What was not fine is that because none of this was sorted before the school year, there is now no space at Lovely School that is suitable for Mikaere.

So we have to wait till NEXT September.

Lovely School has exactly eight spaces in their early years class. If you double that, for the afternoon/morning sessions, that’s sixteen. Total. Sixteen special needs toddlers is all they can accommodate.

Considering there is only one other special needs school in our borough, with a similar allocation, that means there is only 32 special needs toddlers between the ages of 3-5 who get to go to nursery a year in my borough.

WTF.

I spoke the the Head Teacher, who was due to open a second early years class for this academic year, and it was scrapped due to funding and lack of teachers. Ahhhhhhhhh.

This. Our system is so underfunded in the world of the vulnerable and special needs. I don’t know what to do about it. I emailed the director of education standards and inclusion in my borough, who sent back a vague but noncommittal email. I emailed our MP, and our local newspaper, both of which went silent. What else do I do? Where do I take this? Do I go lobby and advocate and make a generally nuisance of myself until someone listens? Till they fund a second class so my son can go to nursery?

The thought makes me tired (and guilty. Like I should be doing everything and more).

It bothers me, because after taking on the fight for getting a package that is SAFE for Mikaere, there is no resource. If he was neurotypical, this wouldn’t be a problem. There are nursery’s left, right and centre offering 15 hour places. But that there are only 32 places in Wandsworth for special needs toddlers… what am I meant to do?

So. I guess we wait till next September, and work with our special needs playgroups until late 2020. I’m not 100% sure how I feel about that.