#teammikaere

One of the things that really gets me is when people assume Mikaere isn’t capable. We’ve had a few new people meet Mikaere recently (all genuinely lovely people, so no shade to them).

It’s just, so often people assume that Mikaere can’t, that they miss what he can. He’s perfectly capable of independent play, assuming it’s accessible for him (bright objects with bells hanging from the hoist, within reaching distance, for example).

He’s happy to explore, and can follow instructions if you give him enough time to process the ask and model it a few times.

You don’t need to play *for* him, you don’t need to shake things in his face, or even just talking at him nonstop (who likes that, anyway?). And sure, narration is fine and important, but give him the opportunity to respond. A conversation has natural breaks so the other person can share their side too. And Mikaere *does* respond, which is the most heartbreaking part. He wants to chat to you, he wants to be seen and heard. He wants to be given the opportunity to show you what he can do.

Also, sometimes he just wants to play, if you could just get out of the way, please.

I know that this is something his team will learn, eventually, but ooof. Watching them shake things in his face always takes me a back (and I always immediately step in, because wtf, how do you like having things shaken in your face, oh hai, here is a random everyday object, let me introduce you to it by SHAKING IT IN YOUR FACE. God. He’s disabled, not a puppy you want to hype up).

Anyway. Can we just assume people can do things? Even when they’re disabled? K, thx.

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit#ableism#ableismIsShit

This kid, legs for daaaaays! We went out onto the common for a walk. Usually we don’t get to see awake Mikaere. He’s so busy and engaged at school that he often crashes and sleeps when he’s at home.

But, now that we’re enjoying the summer holidays, we get to see our guy awake and alert. Today he was so focused, and vocalising and happy. It was a *joy* to see. Honestly, he’s done so well at school this year, it’s really really brilliant to see him thrive, and to be able to enjoy the positive experiences he’s had 🙂

We’re in a season of calm, and honestly – it’s so good for all of us!

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit

Earlier this week, our boy had an EEG. It’s the first one in a few years; and it’s because his seizures have changed over the last six months or so. He’s still having daily seizures, and they’re still a thing that dominate our lives. We’re working out a new plan, and hopefully this eeg will help inform that. Poor bug looks exhausted because they need him to be sleeping (so this is at nap time, and he proper wants to be in bed, at home, not at a hospital with wires being stuck to his head).

It’s not the worst appointment, but I’m always torn. I’ve realised that I can turn down, or change appointments to suit what’s best for Mikaere. If they’re “just because” they can be done over the phone, I don’t need to stress my boy out by taking him into the hospital. If they’re going to distress him, but not inform any real change or aren’t prompted by any real symptoms (I’m looking at you “routine blood draws”) we decline, and don’t do them.

Lockdown has a lot to answer for, but one of the (very few) upsides was recognising the doctor/family authority relationship, and showing that actually, I do have some recourse to shield Kai from unnecessary in-person appointments. They’re not always what’s best for him, and advocating can look different depending on what he needs.

It also means that we’ve had significantly less hospital visits this year, which 🙌🙌🙌 Obviously, some appointments need to be in person, but I wish I’d known I could do this earlier. Hey ho!

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit

Today we went to a community event at Mikaere’s school – I say event, but it was a very low key walk around a local common (where we met a park ranger and his horse!) and then back to school for a BBQ, ice cream and sensory stories.

It was pretty great, in that we got to meet many people from Mikaere’s school, teachers, therapists, people on the parent governor board, but also just other families like ours. It was sweet, actually, and really helped normalise what our life is like. We’re not the only ones blending food or carrying around syringes and meds, trying to shove wheelchairs along gravel paths (gravel is the WORST). But mostly I’m grateful because it was the perfect level of entertainment for Mikaere. He was so happy to be out there, to be with people who talk to him (and don’t shy away), for the walk and being outside in the wind, for the sensory entertainment. It was pretty great, I’m glad we went.

It was also pretty great for Mikaere’s sibling, there were plenty of other siblings there who were happy to have him follow them about, but also just to expose him to others who have disabled siblings too. He’s not at an age where he cares, but it’s nice for him and us to see other families like ours 🙂

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit

These two. This guy is jumping out a plane (even though the thought positively terrifies him!) to raise funds for NKH Research.

Does the idea of skydiving terrify you? Are you thinking “good for you, mate, but skydivings not for me”? Yeah, welcome to our day to day. Except we can’t opt out of “not for us”. Our kid, who we love and adore has NKH. He has seizures and pain and could never be able to do anything like jump out a plane. We’re terrified, of what it means to parent a child who has a terminal disorder, of the pressure to do more, and love more and be more, because his time with us is less.

Please help us, please help us raise funds so NKH is not a painful, awful thing anymore.

Sams skydiving on August 19th in Hinton. Will you come jump with him, for NKH Research? (It’s free; if you hit the fundraising target).

Can’t make that date, or location? Pick a date that works for you, at one of 20 locations around the UK. Not in the UK? Sign up with a local airfield in your area and fundraise for us anyway.

Please, help us make change, help us make a difference, we’re terrified too, hey.

https://mikaerefoundation.org/fundraise-for-us/skydive-for-nkh/ 

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit#cure4nkh#fundraising#charitySkyDive#skydiveForCharity

I’ve spoken before about the support we’re lucky to receive so we can help Mikaere. He essentially needs 24/7 awake care because of his seizures (where he often stops breathing, or might choke on his secretions). We’re lucky in that we have an amazing support package, with 7 nights of nurses, 5 full days with a 1:1 nurse for when he’s at school and not able to be with us.

The offshoot of this level of support is the tremendous amount of trust we have to give a literal stranger, to welcome them into our home, our family, to be around our kids and to care for Mikaere, particularly at school when we’re not able to be with him. The training is never ending, the checking in is never ending, are they happy? Are they safe? Are our kids safe?

We have little to no privacy (there’s always someone in our home, which is… small) and after the shock/betrayal of one of our nurses a few years back, we’re a little bit less trusting than we were before. We ask more questions, we check in more frequently, we don’t let things go, and there’s a clear line now – though one that’s hard to navigate. We’re not family, but there is significantly more trust involved than someone just doing their job.

There’s also the paperwork. Care plans, and risk assessments and obvs books. Originally the agency used to make up these (much smaller) observation books, but I found they were asking for information that wasn’t necessary for our boy, and was taking way too long for our nurses to fill out, meaning it was taking them away from Mikaere. Blah. I would take them apart, streamline them, and put them back together. In the end I just asked that they send the raw packs, and I’d put them together. I make them massive now (no more of this month by month business), but it means 3-4 times a year I’m spending an afternoon making obvs books. Printing supplements and punching holes and binding.

So, you know, it’s been a wild Saturday afternoon. I was talking to Sam, and prebabies Saturdays were for adventuring, and wine. Now it’s music lessons and life admin and Pixar movies on repeat. Parenting is just the most wild flip, hey?

#nonketotichyperglycinemia#nkh#nkhawareness#glycineencephalopathy

We are so lucky, SO LUCKY! I mentioned in our stories last month about how there was a UK shortage of Delsym, which is an over the counter cough medicine in the states. It’s one of the few that has dextromethorphan in it, which is a drug that helps calm Mikaere’s brain (it’s very clever, the NMDA neurones in Mikaere’s brain have a glycine binding site, which means it’s constantly over firing, which contributes to neurone death and brain damage. So dxm blocks the other glutamate binding site, to give it a break so it can’t overfire, thus slowing down any deterioration, helping with seizures etc etc). So, huge ramifications for our boys day to day.

The problem is that it’s not available over the counter in the UK. It has be to shipped in especially by our hospital pharmacy because it’s used off license. And they haven’t had any for months and months. There are two alternatives, one caused Kai to projectile vomit, and the other is 96% ethanol, and I’d rather avoid having a drunk/vomity kid.

When I posted the story I was getting desperate, we were running out and it was impossible to get more. But we have so many wonderful people in our life who were visiting the states and able to bring back some for us. Sometimes a bottle or two, sometimes a lot! Thank you Lewis, and Lily and Jamie and Katy and Jen and Lorisa, Breege and Shane and just – everyone. Everyone who has gone out of their way to help us, who offered and who asked friends to help. We’re grateful, and it has a massive impact on our boys quality of life (and by extension, ours).

We’re so very lucky, hey?

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit#dextromethorphan#delsym

Recently, UCL held a family update webinar for NKH families to go over some of the more shareable aspects of the research (with a goal to provide hope and inspire fundraising). It’s always so interesting sitting in on these. We’re lucky in that we’re able to have conversations with Prof Nick about what’s happening behind the scenes, and whats upcoming, and it’s always nice when the research team is able to share with the wider community.

The most exciting for us is always going to be news about gene therapy for NKH. It’s the only treatment designed to help the underlying disorder, rather than just to treat the symptoms.

The team at UCL are following a strategy to develop gene therapy which aim to place a working copy of an NKH gene into the body, they have two projects on the in progress (the brain and liver gene therapy projects) which the Mikaere Foundation grants support.

We’ve had permission to share an update publicly, which you can read on The Mikaere Foundation website: https://mikaerefoundation.org/research-updates/

It’s not as in depth as the webinar update, and there is still a lot of good stuff happening behind the scenes, which hopefully we’ll be able to share at some point. We’re pretty pleased to be able to contribute best we can into moving NKH research and gene therapy forward.

Even better, we’ve just sent over an additional £10,000.00 this week. We’re a super small charity, so are incredibly grateful for the love and support that everyone has shown us, and STOKED that we’re able to send across another grant so soon after the last one.

We’re making change, hey? And we’re doing it transparently, with kindness. It’s really important to us that, as a charity we have integrity, and are kind and respectful to all our incredibly generous supporters. We can’t do this without you, so thank you for being in our corner. We appreciate you so much!

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit#cure4nkh#fundraising#teamMikaere#theMikaereFoundation

One of the things we do with Mikaere is a regular music therapy session. They’re hit and miss, sometimes he sleeps through. But sometimes he has a brilliant time, loads of engagement and smiles. We LIVE for these sessions, making happy memories, making opportunities where Mikaere find’s enjoyment. Genuinely, I feel really lucky that we’re able to find happiness in these sessions. As he gets older so many things are inaccessible or impossible, so to have these mornings, it’s everything.

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit

We had a lovely Fathers Day morning in the park, with a pub lunch and a walk and icecream. Look at this faaaaaace! It was a lovely morning, for sure.

Happy Father’s Day to you, Sam. The guy that keeps the wheels on our little family buggy, and keeps us on the path moving forward, no matter how tricky the day. We love you! X

#nonketotichyperglycinemia#nkh#nkhawareness#ifhnkh#metabolicdisorder#teamMikaere#glycineencephalopathy#nkhcansuckit#fathersDay#icecream