Tag

Special Needs Life

Aug 04
0

One of those days

By | #teammikaere | No Comments

Today’s been a whole day. Of seizures and vomits and screaming and unhappiness and this face, this face that says so clearly he’s feeling sorry for himself? Yeah. That’s our today.

The shit thing is that this is our status quo. And I’m torn, I’m torn between pulling back the curtain and feeling vulnerable so you can see our reality, or resisting the pull to put some kind of positive slant on it or whether I should just delete this post because to be honest, today is a hard day. It’s one hard day of many hard days, because that’s just how life with NKH goes.

It’s hard for us to continuously share the hard things. It’s hard for us to then manage other people’s sadness at our hardship. It’s hard to navigate all the feels, because at the heart of it, no one wishes we weren’t living the NKH life more than we do (watching our son suffer and not being able do anything is our own special kind of living hell).

And I could, I could paint this with the positive brush. Of what we’re grateful for and focusing on the positives, but I don’t want to diminish this… this is our reality and I don’t want to positive-pretended make it palatable for others consumption.

So, honesty then. Today’s a hard today. And honestly, I’ve never hated NKH more.

#nonketotichyperglycinemia #specialneedslife #seizuressuck #nkhcansuckit #itiswhatitis #hardday #seriouslywherearethecustarddonoughts

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

This slideshow requires JavaScript.

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
Jun 29
0

On a walker update

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One of the things about the special needs life is the equipment cycle grind. Mikaere has SO MUCH EQUIPMENT – from supportive postural equipment (a low/high chair, the stander, the gait walker), to supportive equipment (the bath support, a bouncer, a tumbleform) and wearables (afos, gaiters and a compression suit). That doesn’t include the ‘extras’ (the ups, a giant wedge, the sitting bench, the giant fibre optic contraption etc etc)

Needless to say since lockdown he’s outgrown everything. Usually we’d be in appointments and adjusting and ordering as he’s grown. But we haven’t had any in person measuring appointments since Feb.

So his stander is no longer safe for use and his afos dig into his feet and we sent the high low chair back when we realised he never sat in it because it wasn’t safe (seriously, how do you stop your kid from scooting his pelvis forward, so he won’t choke himself on the chest harness?!).

And then we realised he’d grown too tall for the walker… I mean, I was unprepared for all the growing that was going on.

There’s a theory that NKH kids grow and age faster due to some metabolic imbalance. That the majority of NKH kids are in the 99th percentile for their height, and hit puberty well before their teens. Mikaere is holding true to that sentiment so far. He’s a giant for his age!

Anyway, the walker. You’ll remember that we were gifted the walker by Jirraffe (who have been SO KIND to us!). We’d already secured funding from Elifar for said walker (another lovely charity who have been super super kind) and Elifar agreed to hold the funding for when he’d outgrown it, so we could get a second walker (seriously, how kind is that?!)


(Pictured here without the saddle, and basically used as standing support, with AFOs and gaiters, because he’s outgrown the stander completely now. The chest harness is under the blue support pillow).

So, when it was clear the chest harness couldn’t be raised any further, his legs were too long for the frame and he needed the extra support, we called Jen, our amazing Jirraffe Rep and had a chat. She loaned us the next walker up, we did an adjustment fit via video call and let Mikaere settle in.

Side note: as a mama, I’d forgotten that boys have testicles and it matters how you sit when you’re on a saddle. So that was a fun learning curve for everyone. (If you’re cringing, yes, that’s how I feel. Oh the guilt (!) because I forgot about baby balls!)

After two weeks it was clear that the new walker was a good fit (and almost better than the stander for weight bearing!) and we pulled the trigger.

Mikaere’s brand new gait trainer arrived over the weekend. It’s blue and it’s suuuper shiny! We’ll set up an adjustment call and he’ll spend some time in it every week.

The best bit – and Hayley beat me too it yesterday – was that we were able to pay forward Jirraffe’s kindness. Evelina (of @dear_evelina) goes to the same special needs playgroup centre as Mikaere, and I’d happened to see on ig that they were exploring walker options. I offered Mikaere’s walker that he’d grown out of and was pleased as punch when they accepted.  I’m so glad it’s gone to another family who will appreciate it, and use it. We’re stoked, and we know they’re stoked too, so high fives all round 🙂

So while the stander is out and who knows how long it will be before we can get new afos and a new Lycra suit, and we’re still waiting to hear about supportive chair options (and funding for a new bed and a bathroom changing table and hoists and and and), but we have a walker! Grateful for the small things. We’re pretty pleased 🙂

Jun 24
0

Is it safe? Can we go outside yet?

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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 22
2

NKH Charity Review

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TLDR: I did an in-depth NKH Charity review, a due-diligence exercise to make sure our donations are going to the best place possible. We can no longer in good consciousness support Joseph’s Goal, and as a result of their behaviour, have founded our own charity, the Mikaere Foundation. Obviously, that renders our independent review moot, really. But hopefully it gives you an insight into the levels which we hold ourselves accountable.

We’d love your support with the Mikaere Foundation, but also would highly recommend NKH Crusaders. As I mentioned, I’m really sad about this, but we can not in good conscience recommend the Drake Rayden Foundation due to their lack of transparency (btw, this was not the outcome we were expecting with DRF, womp).

To be clear, this is an independent review, done for our own peace of mind. We reached out to the three charities who knew we were doing a review, but all views are our own and we obviously weren’t compensated in any way.

Links for the NKH Crusaders below, and you can find more about the Mikaere Foundation at www.mikaerefoundation.org.

——-

Over the last three years, we as a family have raised well over £170,000 for NKH, which is no small feat for a single income special needs family. But I also know a lot of that is privilege.

90% of Mikaere’s healthcare costs are met by the NHS. He receives additional, private physio which is generously paid for by my parents, and extra therapies (a mix of ABM, Osteo, CME, movement therapy, hippotherapy etc) which comes out of a special therapy fund which friends and family have been adding into on birthdays and at Christmas (can I mention again how lucky we are?)

With his healthcare needs taken care of (again, such a privilege), we’re free to fundraise with a long term view. I have to be honest though, that we’ve managed to raise so much £££ is an indication of how much amazing support we have around us. That so many of our friends and loved ones have stepped up to donate/volunteer/participate has been everything.

It also means that I feel obliged to make sure we’re doing the right thing with our funds. That it’s going to a cause that is responsible, transparent and has the most impact.

It’s been over three years since we started stumbling through the world of NKH and we’ve found our feet a bit now. I wanted to do an NKH Charity Review to make sure we were donating responsibly (that sounds serious, but it started more as oh, let me just look up to see if they are a registered charity and grew into something much bigger).

It turned into a bit of a shambles with one (seriously, said charity shared a post that implied I was doing “the devil’s work” by asking questions, and asked the Lord to protect them from ‘spiritual warfare’ – I’m not that scary, I promise. Nor did I come into this review with malicious intent. Also, asking for transparency and accountability is not spiritual warfare? It’s the basis of trust with people who are giving you your funds, which allows you to act?). Still, spiritual war and petty posts aside, I was pleasantly surprised by the majority of work the NKH community is doing.

Because that’s the other thing to remember, these aren’t big faceless charity organisations with loads of employees. The community isn’t that large. For me it was so so important to remember that there were real people behind these organisations. These are charities run by families under the same strain and stress as we are. I’ve met all the charity heads in person, and honestly, they’re all really lovely people.

Caveat before we start: I only looked at English based charities, as I’m a philistine monoglot for only speaking the one language fluently. I know there is Les Petits Bourdons in France, and NKH Deutsches Familien Netzwer in Germany, and probably many more I’m unaware of. Hey ho.

I chose the three main/larger charities to review: Joseph’s Goal, NKH Crusaders and the Drake Rayden Foundation. Between them they are the most influential within the community (particularly JG and NKHC) and hit all the varied research teams.

I started with Joseph’s Goal. Update: We are no longer supporters of Joseph’s Goal.

We’ve been supporters since Mikaere was born, as they’re the only UK NKH Charity. In a nutshell, their mission is to raise awareness of NKH and raise funds for NKH Research and family support.

The bulk of their funds goes towards Prof. Nick Greene at UCL, who is working on gene replacement therapy, understanding the glycine cleavage system (in particular the downstream effects of glycine when the GCS isn’t working), and working on a trial for a molecular alternative to Sodium Benzoate. He has three mice models, two cellular models and a zebrafish model.

All of that is publicly available on the UCL website, here.  Nick also acknowledges Joseph’s Goal on his website, and in the research papers he’s published (like this one).

And I know that the bulk of Joseph’s Goals funds go to Prof. Nick, thanks to the UK Charity Commission. Charities in the UK are quite tightly regulated, which helps prevent fraud. Every year the charity has to submit an Annual Report, which is publicly available. The 2019 one is here.

In addition, UCL acknowledges the payments in a letter or significant plan milestones, which Joseph Goal usually shares to their Fb page. It’s also how I know that JG contributions have accelerated research by 12-18 months. That’s huge. (for example these two posts).

Going back to the charity commission annual report, it clearly lists who is on the board (Emma and Paul Kendrick, Joe’s parents. Ann and Norman Kendrick, Joe’s grandparents, Alan and Sue Houghton, Mark Hayes and Greg Farimond). I have to say, seeing this list of names bought a huge amount of comfort. It’s a comfortable mix of NKH family and those with independent perspectives, to make sure JG is making good choices. It helps that I recognised a large number of the names, and had met/conversed with most of them.

The report also shows clearly how they’re following the charity commission guidance on public benefit, as well as clear acknowledgment (with figures!) as to the source of their income.

As an example, it lists the donations by Team Mikaere and family at £48,467 for the 2019 period. Joseph’s Goal raised a total of £195,434 that year.

It also lists payments Joseph’s Goal made. In the 2019 financial year Joseph’s Goal donated £180,000 to Prof. Nick Greene. They spent  £19.5k on overheads (such fundraising events, insurance etc) and it’s all pretty clearly laid out and in line with their vision. Some of their funding went to paying for the Kendrick family to go to the Boston conference, which makes me slightly uncomfortable, but you can see why they do that.

They also have an independent accountant review their accounts, to ensure that their accounts were all above board.

The best bit is that all that information is publicly available, to anyone with an internet connection.

There’s also a lot of what happens behind the scenes. Every month, Alan, the chairman of Joseph’s Goal sends us a ‘Team Mikaere’ contribution spreadsheet that tracks every single donated penny raised by us. It’s an intimidating bit of accounting.

The other factor is the responsiveness of the team. Alan, the JG Chairman generally responds to our emails and questions.

In short, Joseph’s Goal:

  • is transparent about  most things. Their accounts, their board, their vision and their decision making.
  • Prof Nick Greene openly acknowledges their support, and that the funds from JG is having a significant and positive impact on their research.

Next up, NKH Crusaders.

I have a soft spot for these guys, Kristin (who leads NKH Crusaders) is an absolute wonder. She’s been so kind to me, that I can’t not adore her.

Things here got a bit trickier, because NKH Crusaders is not technically a charity, as much as it is a social enterprise. Talking to Kristen about it, I understand her reasoning. In the US, running a charity is EXPENSIVE. The required overheads and set up costs are prohibitive. I also read a few articles that said for every $1 donated, approximately $0.23 goes to charity overheads. I mean, that’s a significant amount. If almost a quarter of your hard won fundraising is lost to overheads, you have to work harder for each $1 donated. It does make sense to send that entire $1 to research. I get that. I’m all for having a greater impact on the research too. In saying that, I know they’re working towards their 501c3 status (which is a nonprofit organisation under the federal law in the United States) and will hopefully be registered in the next year or so.  The reason they’re doing this is to become more transparent, so that’s positive.

Their vision is pretty clear: to raise awareness for NKH and to support NKH Research towards a long term, effective treatment.

Which they do, by hosting the Boston NKH Conference every year, and donating funds to both Dr Katsuri Halder’s team at the University of Notre Dame and Dr Van Hove at University of Denver.

Side note: while they don’t offer funding support to NKH families, they do offer a table specifically for the Ellie-Kate Helping Hands at their annual fundraiser. I don’t doubt that anyone who knew Ellie-Kate or knows her mama Ryan would think it out of line. It’s a lovely thing to do, really.

The team at Notre Dame under Dr Kasturi Haldar are making strides in NKH research. There are two funds which are supported, one is specific to gene therapy research and the other is a general NKH Research fund.  They’re working on gene therapy (working with Dr. James Wilson and his team at the University of Pennsylvania who have developed the vectors) and are looking at chaperone therapy.  They have two mouse models, a computational model (to predict severity from genetics), a cellular model and a zebrafish model. They released 1 paper related to NKH in the last year.

There’s some information available on their website, and on the biannual ND-NKH newsletter (which I can’t tell if it’s from Notre Dame, but it is hosted on their website so I’m going to assume it speaks on their behalf). ND also acknowledge NKH Crusaders in their research papers, like here).

The team at the University of Colorado Denver under Dr Van Hove are also making great strides. They’re looking at understanding more about the biochemistry that causes glycine toxicity/neuron death, specifically at folate methylation, and how to regenerate the methylation of the folates in the brain (this is HUGE!), ran an MRI study to understand brain structure and phenotype, chaperone therapy (and are onto a second, larger screening, focusing on compounds that cross the blood/brain barrier) and in the process of running a natural history clinical study of children with NKH. They have two mouse models and several cellular models. They released 2 papers related to NKH in the last year.

More information is available on their website.

I emailed Dr Van Hove, who was happy to confirm that he was being partially funded by the NKH Crusaders (and several of the other NKH charities), and he acknowledges their support in his research papers (like this one). The University also acknowledges the huge contribution NKH Crusaders have made over the years with a plaque

Speaking to Kristin about their processes, all of the funds raised with NKH Crusaders go into its own, separate account which is overseen by at least three members of the NKH Crusaders Board (who are clearly named on the NKH Crusaders website). They make all NKH Crusaders related payments from that account. Additionally, any funds accumulated from any event are counted by 2 people, one of which must be outside the Archibald family for accountability reasons, before being deposited.

How they make decisions about spending decisions made me really happy. In late 2018 Kristin formed the NKH Leadership Board. Essentially representatives of other families in the USA who have an impact on NKH Research.

(This is why there aren’t more charities involved in this review. There are many, many smaller family charities (some not so small), particularly in the USA who are having an impact, but like TeamMikaere, they partner with other charities. In this case, because so many have partnered with NKH Crusaders through the NKH Leadership Board it seemed prudent to do the review with NKHC).

The list of who is on the NKH Leadership Board made me raise an eyebrow. It’s basically the more influential USA families in the NKH community, who have the most knowledge and experience and have raised a significant amount of funding for research. It’s basically a powerhouse of USA NKH families. It’s really amazing to see so many amazing families come together to make positive change in the world of NKH Research.

They are:

  • Kristin and Bill Archibald (NKH Crusaders)
  • Andrew and Amanda Almany (from the Nora Jane Foundation, which is a registered charity and whose vision is in line with NKH Crusaders)
  • Pat, Mary, Joe and Lynda Sarb (from ND-NKH, which isn’t a charity, but I think it represents the relationship between the NKH community and Notre Dame, which is it’s own,  huge, amazing thing).
  • Mary Fitzpatrick, Sean Nohelty and Kerry Molina (from Fiona and Friends, which isn’t a charity, but has a raised a significant amount of funds for Notre Dame)
  • Heidi Lesley (from Brodyn’s Friends, a registered charity and whose vision is in line with NKH Crusaders)
  • Jacqueline Rhodes (Carson’s Mama)
  • Ryan and Mike McLaughlin (Of Ellie-Kates Helping Hands, which while not a registered charity, helps special needs families in need with financial aid for things like medical equipment etc).
  • Shawna and Chancee Culp (with the Lucus John Foundation who are also a registered charity. Their vision is slightly different, it aligns on NKH Research, but they also support families in NICU and provide grants for genetics testing, express labs and therapy)
  • Kami West (with Swarm for NKH, which is a registered charity but doesn’t have a website, and last submitted a 990 in 2016. They helped TeamMikaere run a £10k fundraising campaign for Van Hove in 2018)
  • Cynthia Graham and Tom Swoboda (with the John Thomas Foundation, a registered charity with aligning visions to NKH Crusaders)
  • Joni and Eddie Kirby (with The Jacqueline Kirby NKH Fund,which, as far as I can tell, is not a charity, but does fundraise for research)

Side note: Apologies, it’s possible I missed some people, for which I apologise. For everyone else, if you’re in the US who are interested in joining the NKH Leadership Board, please reach out to Kristin directly. I bet she’d be thrilled to speak to you.

The NKH Leadership Board meets (online) monthly, and shares updates on fundraising and updates on what they’re doing. They discuss shared goals, specifically in terms of research and funding, or releasing grants. They commit between them to sending a particular amount to Notre Dame and Van Hove every quarter, and in return get quarterly updates from their researchers. It’s all pretty above board. They’re quite transparent and keep each other accountable, which I find reassuring

I also appreciate the collaborative effort, they can only be stronger as a network, with aligned goals and purposes. It also means funding decisions can be made more strategically, ensuring allocated funds are more effective (the Leadership Board have committed to quarterly payments to both Notre Dame and Van Hove, totalling £245,000 between both for the year).

Overall, I think it was a really brilliant idea to form the NKH Leadership Board for charities in the US.  You can read more about their set up and plans in the most recent ND-NKH Newsletter, here.

Behind the scenes, Kristin is super available and responsive. She’s available on Facebook Messenger, and we’ve had many many many chats about loads of things, NKH Crusaders and their vision and operations, Mikaere and her son Thomas, the research teams and what they’re working on, the upcoming conference they want to run. It’s been really enlightening.

So, in review:

  • NKH Crusaders is not yet a charity, but it’s understandable why they’ve made this choice so far. They’re also moving towards becoming a registered charity, so that’s good too.
  • They’re relatively transparent (short of actually sending me their accounts), and have built in accountability into their processes, which will go further once they’re a registered charity.
  • They have the NKH Leadership Board to hold them accountable, provide support and deeper links to the NKH Community.
  • Both Notre Dame and Van Hove openly acknowledge their support.
  • They’re available and responsive. They answered every question I put to them, clarified when I was confused, and were super nice and personable.

NKH Crusaders Links

Next is The Drake Rayden Foundation.

First I have to acknowledge that this review did not go as planned. I reached out to the Drake Rayden Foundation by multiple avenues (via email, on Facebook, comments/dms across several of their social channels) and they weren’t willing to engage with me (citing they were unable to answer due to “confidentiality clauses”), so this review is, well, it’s lacking. I did the best I could and I’ll point out where I have questions/concerns.

In a nutshell, their mission is to “fiercely pursue the most advanced, progressive treatment in the research field for children suffering with NKH. Being involved in the research is simply not enough, we aim to direct it.”

I like they’re aggressive with research (assuming its aggressive, safe and ethical), but I worry that their mission is to “direct” the research.  Where are they directing the research to? I say this because most NKH research is published into the public sphere, available for anyone to see. It’s for the public good. However, for it to remain impartial (rather than for-profit research), research is typically done by independent bodies (like universities who aren’t related to the subject matter). Research teams aren’t slow because they want to be, there are often ethical constraints set by the academic body that they must adhere to, to prove it’s safe and worth pursuing.

If research is being directed, that could indicate that the end result is also being directed to particular beneficiaries (and is usually for profit – think along pharmaceutical company lines). It also means that it’s not being directed to others, and there’s a chance the research would not be available to the entire NKH Community in the same way other research is. I reached out to the DRF to ask if there was any truth in this and they declined to respond due to “confidentiality clauses”.

The DRF is a registered charity and has to submit a 990 report every year to the IRS. By comparison, their 990 mission statement is significantly less aggressive: “to bring hope through the gospel raise awareness and funds for better treatment for Drake and all children affected by NKH” – while I appreciate the O’Sullivan family is religious (and praise them for it), it wasn’t clear if they are using their funding to spread religion in the name of NKH awareness. I asked, but they declined to respond due to “confidentiality clauses”.

Their 990 also says that they fund ‘Research and Treatment Fees’.

Tackling treatment fees first, the Guidestar website says they have “The DRF Cares partners with families affected by NKH and helps supply medical necessities such as items, monies for medicines, or medical supplies not covered by insurance and families can not afford alone.” which was wonderful, but it’s not on their website or advertised anywhere.

Tarah (Drakes Mama), as a representative from the Drake Rayden Foundation did confirm that they are happy to support families, and could request support by reaching out to DrakeRFoundation@gmail.com (full transparency, Tarah actually supplied a different email address, but when I emailed it, the email bounced and said it didn’t exist. This email address is the one listed on their website).

Tarah said in the past, they’ve “supported NKH families that needed funds for funerals, sent supplemental income due to a parent losing his/her job, purchased medical grade car seats insurance would not cover, and helped supplement medical necessary medicine on a monthly basis so NKH families do not have to go without.”  She also said when there is a need, they help meet that need to the best of their ability.  When I asked how they were advertising this support, or if there was a limit on the funding or the types of support the DRF supplies, they declined to respond due to “confidentiality clauses”.

So that explains treatment fees. In terms of research. It gets very very murky here, because the DRF themselves have not confirmed their research partners. They were working with Dr Gray at UTSW on initial gene vectors and are working on a contract to confirm additional work – though they haven’t agreed to work together yet (this came directly from Dr Gray who was happy to respond to my email and an overview of his work with them, and did not come from the DRF). Dr Gray has not published any papers related to NKH.

One of the DRF youtube videos mentioned they hit their yearly funding goals of $150,000, which was to ‘Start 2 vectors (basically engineering viruses carrying the GLDC gene), start toxicology and create 2 models. While I understand what vectors are (by comparison ND had their vectors delivered late last year. UCL have had various vectors available for several years now), toxicology is quite vague and I was curious what the two models were. So I asked, and they declined to respond due to “confidentiality clauses”. I also asked if any research done by Dr Gray (or anyone else) would be made available to the NKH Community. They declined to respond due to “confidentiality clauses”.

Their website mentions they are working with 6 different facilities, and when I asked who they were, they declined to respond due to “confidentiality clauses”.

I know they are no longer working with Dr. Katsuri Haldar and her team at Notre Dame. I had several sources confirm that DRF wanted to direct the ND’s research to specific families, which ND wouldn’t agree to. However, when asked why the DRF cut ties with ND and decided to direct their research internally, DRF declined to respond due to “confidentiality clauses”.

I also asked if other than gene therapy, supporting families and DRF overheads, whether their funds were being directed anywhere else. They declined to respond due to “confidentiality clauses”.

Tarah did mention that in her graduate position at Clemson university, they are currently working to create a first of its kind diagnostic glycine meter, to allow families to test their children’s glycine at home. This is obviously fantastic. Tarah said she wasn’t employed by them, but when asked if the project was being funded or part funded by the DRF, they declined to respond due to “confidentiality clauses”.

The Drake Rayden Foundation also actively promotes their research advisory board (their video says it is “composed of PhD’s and Medial Clinicians that help review the current research, and best plan” for the research they invest in), but will not name who is on it. When I asked, they declined to respond due to “confidentiality clauses”.

This is obviously a concern, as an advisory board is typically used to hold an organisation accountable and to advise on appropriate subject matters. I couldn’t find another example of a charity advisory board who contractually had their names be suppressed (typically their names are shared to provide gravitas and legitimacy to the organisation they serve). I also think it’s important to note, that unlike a board of directors, an advisory board doesn’t have formal legal responsibilities or decision-making authority and can’t issue directives that must be followed by the charity. There’s no above-board reason I can imagine that an advisory team would have name suppression.

One nugget of hope I had was that Tarah mentioned that eventually, they would build a members login on their website which would allow their members access to more information.  When I asked if there were any particular requirements for becoming a member, how people might register or find more information,  they declined to respond due to “confidentiality clauses”.

So, in review:

  • They are a registered charity, whose mission is to fund research and support NKH families in need.
  • They’re not very transparent. In comparison to the other two charities, they offer very little information as to the workings of their organisation, where their funding goes, who they are accountable to and why they are supporting the research facilities they are. For any question they didn’t deem appropriate, they declined to answer due to “confidentiality clauses”.
  • They have an advisory board, but oddly everyone on the board has name suppression.
  • Dr Steven Gray at UTSW has acknowledged past vector work with DRF, but has not confirmed working with them moving forward. DRF chooses not to name any of their research partners, or acknowledge if there are any avenues being funded outside gene therapy, overheads and supporting NKH families.
  • It’s not clear whether research funded by DRF will be made available to the wider NKH community, or whether it will be available only to specific beneficiaries.
  • They’re not especially available or responsive. I’ve sent emails, facebook messages, facebook comments, instagram messages and comments and youtube comments. It was only when I made a very public post in the NKH Community requesting information did Tarah come forward, but it was short lived because she declined to answer any questions and left the group immediately after. If you’re in the NKH Community, you can see my original FB post here, and Tarah’s leaving post here.

I just want to say I’m really really sad about this. I didn’t come into this review with any malicious intent, and I honestly didn’t not expect this level of exclusion. I genuinely thought that I was going to be able to recommend three great charities for NKH families to support. Hey ho, we all make different choices, and I’m sure that the Drake Rayden Foundation has their own reasons for declining to answer so many straight forward questions.

As such, we as a family will continue to support Joseph’s Goal, but would also highly, highly recommend NKH Crusaders (or any of their Leadership Board partners). I’m really sad about this, but we can not in good conscience recommend the Drake Rayden Foundation due to their lack of transparency and unwillingness to have an open conversation about their organisation. Womp.

As always, if you’re thinking of donating I strongly suggest you reach out to the charities you’re considering and have a conversation. Ask them where their funds are going, and how they hold themselves accountable (to you, and the public in general). Make sure their vision and values are in line with your vision and values.

But also – please donate to NKH Research. It’s often the only source of hope for many families, and would genuinely be life altering for so many kids. If you’d like to donate to our justgiving page, you can find it at: justgiving.com/team-mikaere.

Jun 19
1

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!

Jun 15
1

On Isolation

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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

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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 05
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On ANOTHER nursery update

By | #teammikaere | No Comments

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.