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On friends running the Dublin Marathon

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Today Shane, Maria and Kevin ran the Dublin marathon for #TeamMikaere and Joseph’s Goal.

Shane’s son Rauirí and Mikaere are friends from our local special needs playgroup. There is a lot of love between our families, we have an incredible amount of time for them.

Shane (and Maria and friends!), running for us today? That’s everything. They wore Kai’s name across their chests and ran 26.2 miles. A phenomenal achievement. Even more so, apparently one of their party injured themselves half way *and continued* still crossing the finish line. That level of determination is admirable.

They’ve also raised a whopping £2k for NKH research, and if I’m honest, that feels personal. That feels like over and above, and we’re grateful. Heartwrenchingly, overwhelmingly grateful. So to the Hoynes: thank you. Thank you thank you thank you, genuinely.

If you’d like to support this amazing achievement they’re fundraising on justgiving at: https://www.justgiving.com/fundraising/shane-maria

On keeping my eye on the (Zonisamide) ball

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I feel urgent. I’m in the car, silently willing traffic to get out of the way. Mikaere’s fine next to me, kicking the shit out of some bells tied to ribbons in front of him.

There’s been a mix up, and I wasn’t top of my game enough to catch it, and now there is all sorts of hustling happening. There are four medications Kai can’t skip. Two for his glycine, and two for his seizures. We’ve recently switched services, a new GP which comes with a new pharmacy.  Except that our new pharmacy doesn’t call you when the medications are in, and also isn’t open on weekends (literally wtf).

So, I’m in a panic because we have exactly one anti-epileptic dose for the weekend, when we need at least four doses. Fuck. Missing them and facing a weekend of seizures (and all the joy that comes with them) is not how I want to spend my weekend.

But the anti-epileptic Mikaere is on is not your typical run of the mill anti-epileptic. That’s because the bog standard seizure medications are contraindicative with NKH.  So, he’s on a medication that’s not licensed for children under 6, and it’s usually down the bottom of the list of what a neurologist would try, because it’s more expensive.  What I’m saying is that it’s not a medication most pharmacy’s have on hand. It’s usually special order.

Conveniently, I called our old pharmacy, who have a box in stock (woo!).  But, to pick up the box, I need a prescription, and our GP is closed. So I call our CCN, who was all hands on deck for someone else’s emergency. Womp. Next step was to call our palliative Care team, who have a backup GP but told me to get in touch with our local hospital as technically we’re not in hospice on a symptom stay, so should be supported by our community team.

So I call the switch board of our local hospital, who put me through to casualty, who told me to ring 1111. I rang 1111 and spoke to a lady who could send a repeat prescription to only specific pharmacies.  Lovely. So I ring the four pharmacies they work with, and none of them have it in stock.

I call 1111 back, and speak to a doctor who took a history. Said that because the medication is usually only recommended for those over the age of 6 (and my son is 2) and so we’d need to be reviewed, with documentation that he’s been prescribed it.

So, I made us an appointment for in 30 minutes. We live 25 minutes away, the next dose is due in 20 minutes, so the three of hustle to get out the door.

Traffic is awful, but we manage. The doctor see’s us right away (and I feel terrible for wasting her time, showing her our latest review letter with medications + doses listed, and with the last prescription receipt) and then we make it to the pharmacy just before it closes.

I make up the dose right there in the car, and the dose is only 15 minutes late.

I’m relieved, but fuck you guys. That was hours and hours of hustle because I didn’t know our local pharmacy isn’t open on weekends.

Hey ho. I’m glad we worked it out in the end.

On the Lycra Suit

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Mikaere has hypotonia, which means he has low tone, or muscle weakness. Kind of. It’s not that his muscles are weak, and that he just needs practice to build up his strength, but that his brain finds it difficult to send the signal to ‘fire’ his muscles, so they can do what they’re meant to.

This means he finds it difficult to do things we take for granted, like hold up his head, or pull himself forward, or even lift his hands to his face (something even neurotypical newborns do).

One the things we do to help him is set him up in a Lycra compression suit. One benefit is that supports his core. It helps realign his spine and pelvis, giving stability and also provides better proprioceptive feedback, which is knowing where his body is and what it’s doing as he moves himself around.

The suits are custom made, so we went and got him measured up for a one. Spider-Man colours, just for fun.

We know this helps with his core stability. Fingers crossed it’ll help groove in some pathways in his brain and he’ll eventually be more stable without the suit as he is with it.

It’s just gone back to the shop for adjustments, so we’ll wait and see!

 

On the b:Generous Amsterdam + Paris Run

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Every year Sam’s work does a Be Generous week, that’s focused around giving back to the community. It means charity events and volunteering and donating. Every year there is a run in Amsterdam (and this year Paris too!) for #teamMikaere and NKH Research. That this is a regular run blows my mind.

People sign up to run around Vondel Park, and people get their laps sponsored. I love that they do this. There were a few cheeky sponsors this year, who increased their sponsorship rate for higher laps. Sam flew across to Amsterdam to run, which was amazing. He ran 5 laps, with each lap being 3km. I can’t really fathom running that personally, we’re super proud of him!

Overall, there were 28 runners in Amsterdam, and 7 in Paris. They raised over €5,500 for NKH Research, which is no small act!

When I think about all those people who ran, when I think about Chris R who organised the runs, and all the people who  sponsored/donated – I get teary.

This is personal for us. This is our son’s future, one which is not promised or even expected, and here are all these people who clearly are with us. Research is the only hope we have for an effective treatment, for a better quality of life for our son. That money is the only bottleneck is frustrating.

I can’t begin to explain what a comfort it is to know that there are people fundraising on our behalf. That we’re not alone, that we’re not doing this by ourselves.

You make us feel heard, and seen. You give us hope. So thank you. We love you guys, and we’re grateful you’re on #teamMikaere

On of course we ended up in hospital

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

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

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

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

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

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

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

——-

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

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

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

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

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

 

On an awful morning

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It’s just gone 5am, and Sam’s moved out into the lounge to sleep and I’m playing it fast and loose by moving Mikaere into our bed. He’s on o2, but despite it his heart rate is through the roof, his respiratory rate is ridiculous – he’s working hard to breathe.

There are tubes and wires everywhere, and Mikaere is frustrated at the mask on his face and keeps tangling his fingers in all the tubes.

I’m trying really hard to hold it together. But I hate this. I hate that my baby is struggling. I hate that we have to have monitors and alarms and tanks of o2 by our bedside. I hate that at this point I don’t know whether we’ll still be here in bed in the next hour or in a&e.

We all desperately need the sleep. Sam’s night ‘shift’ finished only three scant hours ago when he finally got to go to bed, and I’m run down and exhausted and poor kaikai, he needs the recovery time. Instead he’s thrashing about trying to get his mask off, and the stats monitor is kicking off because his heart rate is too high. (A typical heart rate for a sleeping toddler is between 80 – 120 beats per minute. The stat monitor reads 173 beats per minute right now. That’s me in the middle of a HIIT class!).

It’s just, Kai being ill is such a trial. And I hate this. I think frequently about how neurotypical parents get to go to sleep at night and not worry whether they’ll end up in the a&e before their alarm goes off. About how they’re not woken by stat monitors, heart racing as they try see if their baby is blue or not.

I hate the special needs life, you guys. It’s so royally awful, and my baby suffers and there’s no way to fix this

I read a book a while back, called ‘Was this the plan?’ about a special needs Mum and how she managed her through daughters life and again through her husbands trial with cancer. She says frequently that you can’t do anything about the cards you’re dealt, but you can decide how you play them. BS, is what I think. There’s no good way to play these cards. There is no way to accept the unacceptable. There is no way I’m going to be okay with my son living a life of pain and suffering. With my baby living a life less than what everyone else expects and enjoys.

And if I’m being honest, that entire book was a factual recount of an awful series of events, pain, grief and death. What was missing was any kind of emotional accounting. That’s what would have been helpful to me. How to manage these roiling emotions when life is one emergency after the next, when you don’t have any emotional capacity left and you’re in the dark place.

Because that’s what I want to know. How do I survive this grief, when I don’t even know whether we’re all going to get through this morning?

On Going to Nursery

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As I write this, we’ve just come out of September. There were many back to school or first day photos in September. So so many.
We were also gearing up for a first day at nursery, possibly by the end of October. It was broached by our portage play therapist, knowing how I felt about being separated from Mikaere (which is no thank you never), and that at five, he was going to have to go to school (by law).

Knowing that it would take a long time for me to feel comfortable with Mikaere going somewhere outside my care, and into the care of strangers (especially when he’s on palliative care with a terminal disorder and every single day is precious), we went very very slowly.

Last year we visited schools. We talked about what some basic goals might look like, and what we’d be comfortable with. And then we went to the council and said, yes please. Please find us a place at this Lovely School here. That happened across months and months and months. It was very slow, and very gradual. Plenty of time for my mama heart to get accustomed to the idea of sending my baby to school.

Last week I hosted a group of professionals into my lounge where they presented an offer of placement: Five days a week, three hours a day between 12 – 3pm. His entire therapy caseload would be transferred to the school and how lovely was that?

Not lovely. Not lovely at all. I was shocked and made it clear that this package would not work for us for several reasons:

  • Mikaere is on a feed between 12pm and 2pm. That’s two hours where he is in a chair, relatively upright and still, else vomits.
    He typically sleeps from 2pm – 4pm, or has down time. He’s not typically very active in this time.
  • Five days a week is too much. He’s very easily over stimulated, and without lots of down time to compensate, he tires quickly and has seizures. Obviously we want to avoid that.
  • I’m not comfortable having his therapy transferred to school when I’m not there to oversee it. So much of what we do is lead by us, by me, because Mikaere’s well-being is so fluid. Seizures steal so much of his skill, so we’re can’t build on what he’s learnt week to week. One week he has full control of his limbs and his rolling. The next he’s floppy and can’t bend his elbow. The idea of not being there and things being missed without me to advocate for him (like I do now) is inconceivable. What’s more, if he’s meant to be having all this therapy when he’s on a feed or sleeping, he’ll never get the therapy he needs.

So no. It was not lovely, and I felt like this package had been designed by someone who did not know Mikaere, or his medical needs, and did not care. When I expressed all of this, it became clear it wasn’t the school setting it up, it was a council led, one size fits all special needs package. Have you ever heard anything so ridiculous – as if you could bundle the entire spectrum of special needs toddlers into one package. A package which does not suit Mikaere or me.

I was devastated you guys. Because right then my choices are put my son in a situation that I know will not work well and cause harm, or not have him go to nursery altogether and deprive him of lovely social interactions. That’s hard.

So I did what I always do when I’m faced with two unacceptable choices, which is accept neither and escalate. I asked for a few months leeway to review, and I wanted the name of the person at the council who works with Lovely School to arrange the packages so I could get one that works for us.

I think they were unprepared for me to do that. But you guys, I’m so tired of fighting.

I feel like I’m fighting every corner, for more for better for Mikaere. There is no part of his care that just works for him, no service that ‘just works’ like it’s meant to to meet his needs. (Just as a side note: I’m still trying to manage home visits from our gp, and his neurodisability service is in severe crisis to the point where they can’t offer prescriptions for medications he needs to keep him out of a coma. I’m fighting for the very basics of his medical care, so I’m not exaggerating when I say there isn’t a single part of his care that isn’t being fought for).

I’m so tired. The idea of gearing up for another fight against another immovable entity, another faceless group who doesn’t acknowledge my capability, my knowledge or expertise, who sees me as just another ‘hysterical mum’ – it’s exhausting and I haven’t even started yet. But I will. I will put my head down and provide paperwork and research and requirements and laws. I will escalate higher and higher up the ranks until it’s acknowledged that a one size fits all package is not appropriate for all children. That it’s not appropriate for my son, and that is unacceptable.

I will fight this fight, this extra fight in this extra corner, because I love my son, and he deserves the very best quality life I can wrangle for him.

So, off we go. Battle armour on. I can do this.

On the vomiting & the PH Study

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Oh the vomiting. I feel like it’s one of the invisible parts of our life, but Mikaere vomits EVERY DAY. Everyday the gagging, and the vomit and the changing and washing and comforting.

We carry towels around with us (most which have ever so slightly off colour splotches). We have a change of clothes for him, and for us. Vomit and the discomfort of vomiting is our day to day, and has been since February 2018.

Can we just take a minute and talk about how awful that is? How uncomfortable for Mikaere, how sad and smelly and gross and just, awful?

How happy would you be, if you vomited everyday? Tasting the bile, feeling it rise up the back of your throat? Knowing that day after day you wouldn’t be able to keep anything down? And no choice but the vomit, not able to communicate that you feels nauseous, not able to move your body into a more comfortable position.

How is that acceptable? How is that quality of life?

It’s not. No one seems as upset about it as I am.  It’s taken a year and half for anyone to investigate. A year and half of me speaking about it with every single medical professional on our team, insisting that this is not okay, asking for help, asking what else we can do, asking for more for better.

Then our gastro follow up for the gastrostony that we had in Feb 2018 was set for April 2020. Because the gastro Service at our local hospital is chronically underfunded and there is no consultant to see us.

This week we finally, finally had a ph study. It’s the very first step in understanding how much vomiting/reflux is happening. It’s only for 24 hours and requires a prob is put down Kai’s nose (and an X-ray to confirm correct placement).

It’s frustrating. We already know he’s vomiting, we already know he has reflux, and we know this because we take detailed logs of everything Kai does. I’m not sure whether they think I’m a hysterical mama bear whose making it up, or whether my data is just inaccurate (or are they just doing their due diligence?) but regardless, a step has been taken. Something has happened, and I’m hopeful that that something results in a review which will then kick off a bigger investigation.

My fear is that there is no reason. Or the reason is something stupid like the surgeon hitched the gastrostomy too high.

We’ll see. I’m grateful something has happened though, even if that something was a redundant waste of time. If it means someone is looking at its data and recommending a review, it will be worth it.

 

On the research happening in the UK

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

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

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

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

GldcGT1

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

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

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

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

GldcGT2

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

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

Gldc missense mutation

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

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

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

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

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

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

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

On the ABM intensive

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One of the new therapies we’ve tried recently is the Anat Baniel Method. It’s a lovely therapy that meets Mikaere where he is, that doesn’t force him to do anything, but builds on his current skill set.

It’s a bit like magic, to be honest. We went away with another special needs family down to the Isle of Wight where there is an amazing Anat Baniel therapist – Michelle Wheatley. She’s positively lovely. She also lives the special needs life, so she *gets it*. She also is able to interact with Kaikai with love and care and intention, which I appreciate.

So many of therapists force Mikaere through their intended programme without first taking stock of what kind of day he’s having. Michelle always starts with Mikaere. How he’s doing, what kind of day he’s having, what he’s interested in, the kind of movements he’s making. I love that. I love that it’s the kind of therapy that focuses purely on where he is right now.

I do want to say that while I trust the method, and I like Michelle a lot – I feel like a lot of ABM practitioners are about the money. I’d also even go as far and say for Anat Baniel herself, the leading lady is only about the glory and the dollar signs. That *frustrates* me so much, that there are so many practitioners who are taking advantage of special needs families. (Not all, mind. Michelle for example is affordable and a genuinely lovely person).

But we’ve seen gains with ABM. Mikaere rolling over, beginning to sit up, started tolerating tummy time, started being more intentional with a handful of movements he’d practiced with Michelle – it was pretty mind blowing .

It’s also a bit frustrating, because if we hadn’t seen gains I could have left that awful ABM culture where London appointments are £125+ for 45 minutes behind and focused on something else.

Still. We *have* seen gains. That’s what I’m holding on to. So we’ve been down a few times, driving down to the Isle of Wight for a week for an intensive. Its amazing being there. Its amazing for all of us, for our mental health and emotional wellbeing to be out of the constant therapy/appointment loop. Beach walks definitely help.

So ABM. I’d recommend it, but not at the ridiculous prices some practitioners charge. (If you’re in the UK, I would highly recommend Michelle. More information about her practice at www.brainbodysense.co.uk