Ellly

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

After Mikaere’s metabolic appointment, we hit up a nearby splash pad so our youngest family member could burn off some energy. It’s not easy trying to manage the very different needs of my babes, and splash pads aren’t very inclusive… in that mobility equipment is designed for very singular situations. I don’t want Mikaere’s wheelchair to get soaked, because he has to sit in it all the way home. Wheelchairs are expensive, and fiddly, and we don’t have a spare one that’s appropriate for water play. The splash pad didn’t have hoists or things, to sit on while you splash, or a changing places facility… so we settled for wheeling him close enough for leg splashing (which he was curious enough to start with, and then decided that leg splashing was not for him).

This wasn’t meant to be a Debbie downer post (although it’s hard not go down that path when talking about accessibility… the world is widely inaccessible, and accessibility is rarely prioritised or designed for as standard) BUT it’s hard to be enthusiastic about a little leg splashing when you can see the experiences of Mikaere’s neurotypical peers. Oof.

Anyway. We went to a splash pad and it was cute and there were fountains and I genuinely wish accessibility was designed into these things as standard.

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

We’ve recently been granted a wrap around service – which is transport to and from Mikaere’s school. Honestly, this is such a genuine blessing. We were doing manual transfers (lifting Mikaere out of his wheelchair and into his car seat) which… he’s not a small kid, you know? It was hard for him, and hard for us. It was very physically hard for everyone, and definitely had some negative impacts on Mikaere’s hip dysplasia.

So being granted school transport, that’s wheelchair accessible (and therefore doesn’t require any manual transfers) has been GAME CHANGING for us.

There is a bit of a faff around how many people are involved (between school, the council, the service, the driver, and us… communicating changes requires some coordination)
BUT I will take all the logistic faff for the ease and comfort in which our guy is taken to school.

We’re pretty lucky, I know not every family is granted this kind of service. I know there is so much fight and battling for services, so to be granted this, a service which is so desperately needed and quite drastically improves Kai’s quality of life (and dare say ours, too), I’m grateful.

I cried as I waved him off the first time. Which feels stupid, because obviously he’s been going to school for the longest time. But I did. Thankfully, his driver is the NICEST person. It feels like we really lucked out.

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

ID: There is a white taxi cab side on, with the door open. You can see Mikaere in his wheelchair through the door. Behind the car is a building with glass windows, and a blue sky.

One of things that happens as Mikaere gets older is the scarcity of *things* that he needs. Things that were wildly available when he was wee babe don’t exist in big kid sizes. Like bibs, bibs that are *waterproof* and don’t leak through to his shirt (I’m looking at you, M&S adaptive bibs).

I got fed up. Usually I’m all for paying for convenience, but it actually has to be convenient. The ones we need are so expensive, or ugly or the shipping was horrendous or there weren’t that many options available etc etc. So I pulled out the sewing machine, ordered some fabric and off I went.

I am not a seamstress. The last time I properly sewed anything that wasn’t clothing for a bear (a one-off project for Kai’s class), was high school. I don’t how the right techniques to finish a bib, but you know what? My kid has at least one bib, that’s the right size, that keeps his chest dry 🙌🙌🙌🙌

I attempted to make button buddies too (a small fabric button that goes around his gastrostomy to keep it dry, so it doesn’t granulate. They’re also stupidly expensive and we keep losing them to the same monster that steals our socks).

And then I figured out why button buddies are so expensive, and it’s because they’re a bitch to make. And I made the mistake of lining them with micro fleece (if the purposes of the button buddy is to soak up the liquid coming up from the stoma, then using water proof fabric is a terrible idea). BUT – I gave it a go, my third one was better than my first, and I’m going to scavenge from the rubbish M&S bibs to make the fourth, so you know. I’ll get there. I’ll not be defeated by a stupid button buddy.

So this is where I am, parenting wise. I’ve entered the sewing stage out of desperation. Wish me luck!

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