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On Getting the meds.

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Kai is on a lot of different meds. Most we can get from our local pharmacy. A lovely little family pharmacy that delivers (I can’t tell you how much I love that they deliver. They are amazing and I adore them and our hectic life is made a kajillion times easier by this simple service).

However, there are two vital medications that Kai is on that we can’t get from our local pharmacy. 

Sodium Benzoate and Dextromethorphan. 

Sodium Benzoate is typically used as food preservative. Dextromethorphan is usually in American cough syrup. Buuuut we go rogue with off-label use. (Side note: rogue under the direction of our metabolic consultant… medical rogue).

Sodium Benzoate pulls glycine (the bane of NKH) out of Kais blood, transforming it into hipperate so he can pee it out.  This normalises the glycine level in his blood, and reduces slightly the levels in his brain/spinal fluid. This is the medication we rely on most to manage NKH. 

However, because it doesn’t normalise levels in his brain, we use Dextromethorphan (DXM). By the time it gets to the brain, DXM is able to occupy the glutamate binding site of an NMDA receptor. The other binding site is glycine, which essentially means the NMDA receptor can’t fire and the neurone is given a break.

It definitely does a bit more for Kai than suppressing coughs, that’s for sure. 

Because they’re off license, they have to be prescribed and ordered through the hospital. We are the only regulars at our hospital that have NKH. We are the only ones they order Sodium Benzoate and DXM for. 

DXM takes 14 days to ship over from the states, where it is an everyday over the counter medication. We get ours in the form of Delsym. A grape flavoured cough syrup. It’s violently purple.

Sodium Benzoate takes 10 days from a company in Oxfordshire. So for both it’s not a small ask – they require forethought and planning to get hold of.

Kai takes these medications four times a day. When he doesn’t have Sodium Benzoate, his glycine levels sky rocket. High glycine levels means excessive sleepiness, seizures, and a coma. When he doesn’t have DXM, the NMDA receptors in his brain are constantly overfiring. Which means more seizures, neurone death, and more brain damage.

So not having them is not an option for us. Not while his brain is so young.

Long story short, there was an monumental miscommunication between the pharmacy, our community care nurse and me. I asked for the prescription to be chased within the two week window well before we needed it, it was chased outside the two week window, and the pharmacy got the prescription two days before we needed a new supply.

I only found out when our new CCN called to say it was available. Which was awesome, so down I toddled to the hospital to pick up the meds. I congratulated myself on going on a Sunday morning, when the pharmacy was empty and I wasn’t going to have to wait hours and hours. I feel like fate was quietly lol-ing at me and my pride. Seriously… look at that smug face in the empty pharmacy:


Joke was 100% on me and that smug face, because after asking for our meds, I was told pharmacy was out of stock, and the lead times were 10 – 14 days. 

Panic. Extreme extreme panic on my part. 

In the end in a flurry of calls to our CCN, and a dire ‘without these meds Kai will go into a coma and have an inordinate amount of seizures’ to the pharmacy staff – I was asked very politely to leave it with the pharmacy staff and they would call me. In the end, despite my nervousness, they did. They sourced a few bottles to tide us over from another hospital. Thank goodness for that.

In the meantime I’d gone to our amazing NKH support network with an ‘OMG SOS’ help request, and so many wonderful generous people came back and said they’d ship us a bottle if we needed. 

I’m grateful we didn’t, but I can’t tell you how reassuring it was to have people who could help if we got desperate. (Our NKH family is the best).

So, crisis averted. 

The day I need to ask for the prescription to be organised has been marked in my calendar regularly for months and months. Now there are several chase up the prescription reminders, just in case.

I never thought my life would be so dependant on others, that the care of my son would very literally come down to other people doing their jobs and doing their jobs well.  It irks that so much of his care is out of my control. That I have to trust people who do this for money, instead of love.

Le sigh. Fingers crossed it doesn’t happen again.

On the Birthday Bash

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Oh my days. OH MY DAYS. We’ve just spent the weekend up with Sam’s folks. Their friends from church were having a few milestone birthdays and were throwing a birthday bash. 

It was fabulous. There were many cakes, and deliciousness. It was warm, everyone sat outside in the early evening air. I met so many lovely people, so many lovely generous people. 

There was a raffle and an art sale and giant jenga. A whole night of talking to people and sharing our story and hearing about others lives. About their grandchildren and the work they’ve done and the projects people are working on.

It was full on, and generally pretty wonderful. 

After the festivities, when I was falling asleep in the lounge, the final donation count came through. 

On the night we raised £858. I was overwhelmed. I really really was. I got all teared up – people were so generous. As if that number wasn’t huge enough, the next morning more donations had arrived. By the time the weekend was up, that number had moved up to £1058. 

We raised over a grand from a birthday party.  So thank you to everyone who came. Thank you to Jude, Marion, Margot, John and Dorothy for sharing your birthday’s with us. Thank you to Judith, who I know would have been there with us if she could have been. Thank you to everyone who donated, who participated in the raffle (I myself came away with a happy little ceramic lizard, who now lives on my balcony).   Thank to everyone who was there – we are so incredibly grateful to have you all in our corner.

xx


PS – special thank you to Bryan for holding Kai while I ate. He was so comfortable with you he fell right off to sleep. Watching you with him was a nice moment for us. So thank you! 

On figuring out the stupid seizures

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I feel like we’re constantly holding back the tide with our hands. The seizures are unrelenting, and oh how I loathe them. They’re so horrid. 

Here’s the thing – there are half a dozen things that can cause seizures. Pain (like from, say, teething). Heat (oh hey London heatwaves). It could be Kai’s put on weight and outgrown some of his doses, or that there’s NKH progression or that he’s constipated. It could be this viral thing he’s picked up. 

It could be ANYTHING.

So I track the seizures, and we got from 1 a day, to 2 a day and then suddenly with no warning we’re into the realm of 7-10 a day. What happened? What happened in the last week? What have we changed? What is going on?

And I genuinely feel like it’s best to try figure out whats going on by myself.  Isn’t that crazy? We have a huge team of medical people. A huge huge huge team of medical people. People with many degree’s and fancy letters behind their name. But the problem with a rare disease like Nonketotic Hyperglycinemia is because there is no information, and because the NHS is so decentralised, I can predict what they’re all going to say:

  • The neurologist will want to increase his anti-epileptic medication. Without asking whats causing the seizures. Just increase the dose. 
  • The metabolic guy consultant will say he’s sorry Kai’s having a hard time. What’s his most recent weight –  he’s probably outgrown out of his meds. Let’s increase his metabolic meds.
  • Our CCN will want to talk to our neurologist. And then when the increase of anti-epileptics doesn’t work, our metabolic consultant.
  • Our GP will have concerns, but ‘just to be safe’ we should go into A&E and get him checked out.
  • The A&E people will take bloods, and wait for our neurologist to show up.

There is no one on that team asking for the whole picture. There is no one person asking when the last time Kai pooped was (you’d be surprised how many seizures we have because Kai is constipated). There is no one asking about teething or pain or high temps, and do the seizures stop when Kai’s had calpol.  There isn’t anyone looking outside their silo. Our medical team aren’t looking at the non-medical options.

Except me. Because he’s my son and I see everything everyone else is tinkering with and I’m doing the best I can to track what I know. But I don’t know what I don’t know. What if it’s caused by something else? Something I’ve not seen before, or come across, or have no idea to look out for? What is it I don’t know??

I hate that this is the case.  That I feel like of all our team, I’m the best placed person to work out why Kai is having these incredibly horrific seizures. I want to trust our team – I want to trust the team of people with the many years of degrees and experiences and letters after their name to tell me what to do. But I can’t, because they’re looking at their speciality with blinkers on. 

So it’s on me. It’s a weird place to be in. 

The other thing is The Fear.  That for every seizure Kai has, for every additional seizure we have in a day I wonder if this is it. If today is the day we end up back in hospital, or hospice.  I think back frantically to the last time I saw Kai’s beautiful blue eyes and wonder if I’ll see them again. Whether yesterday was the last time I will have heard his little vocal squawks, or the funny faces he pulls when we feed him pureé.

The escalation between where we are, and in a coma in intensive care is a series of small, tiny steps. And they’re all seizure related. The more seizures Kai has, the closer we get and the more anxious The Fear becomes.

I hate that I even feel like this. I want to be able to enjoy time with my baby boy. I want to trust that today will be a good day. I want to be able to plan further than a week ahead and I want to be able to stop pre-empting rsvp’s with ‘If kai is doing well.’

I’m jealous of the Neuro-typical path. Stupid NKH. Stupid Holland. I want to be in Italy, and I’m sad that we’re not. I’m sad that Kai can’t hold his head up. That he’s not crawling or standing or socialising. That we can’t put him down to sleep and trust that he won’t have seizures. That he can’t see across a room. That because of his medical needs we can’t trust a non-medical babysitter. I desperately want more for my beautiful Kai than the life he has, with his grim future. 

I wonder if I’ll ever be not grieving this.

On another week, another hospital visit

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This time we managed about six weeks between hospital visits – some kind of record for us! It’s always the small things that get us here, which I think is why The Fear is so big.

This time Kai was grumpy. Proper unhappy, which is so unlike him. I put it down to teething. Except then he was off his feed… and then he was warm. Low-grade temp, nothing too major. We’re in the middle of summer, everyone is warm right now…. right? No one’s keen on drinking warm milk in this weather…. right? I keep trying to explain it all away, silently hoping that this isn’t a thing. Please don’t be a thing.

Except, then there was this rash. It blanched okay, so in my eyes not any of the big scary things (oh hey meningitis). I mentioned it to a doctor friend, who suggested I call our community team just in case. And then our CCN suggested a gp visit. Who suggested an A&E visit. And now we’re here. In the A&E, with all the fears of everything that came before.

Here’s the thing though – I don’t think we need to be A&E. I don’t think we’re even close to needing to be in A&E. But because Kai has Nonketotic Hyperglycinemia – he’s considered ‘complex’. And with the complexity, our medical support always wants to cover ‘all the bases’ – so they shove off responsibility onto the next escalation point. Our CCN’s point to our GP, our GP points to A&E.  It’s always “just in case” – not because Kai genuinely needs to see the GP or be in the A&E. What bothers me is this kind of mentality is not best for Kai.  Having Kai sit in a waiting room full of sick people, or sit in A&E – we open ourselves up to more colds and coughs and illnesses. Taking care of the “just in case” benefit does not weigh up against the risk of Kai getting something worse.

So. We’re in A&E unnecessarily.

Right now we’re waiting for blood results to prove Kai doesn’t need to be here. I’ve insisted on numbing cream (because apparently using pain relief is not common in under ones. Mums, if they need to take blood from you wee one, INISIT on numbing cream). We waited for the cream, we waited for it to take effect, and now we’re waiting for results. We wait. We wonder. This isn’t anything we need to worry about (……right?). We’re taking bloods, and they’ll be fine and then we can go home. We don’t need to be here….. right?

Cross your fingers we’ll be going home. (Please please please please let us be going home!)


Update:

Bloods took four hours to come back, and they don’t think it’s meningitis or encephalitis (thank goodness!!). In saying that it’s clearly some viral infection of some kind. Poor baby.

Bloods took four hours to come back, and it’s not meningitis or encephalitis (thank goodness!!). In saying that it’s clearly some viral infection of some kind. My poor baby. New question – where is he getting weird viral infections from?!

So, they offered us an observational night at the hospital. But because they know us (we’ve seen this particular paediatric registrar several times before, and our emergency paediatric nurse we’ve had several times before too… I guess knowing the medical team is the silver lining of being a regular at the A&E?) they also said they were okay for us to go home if we were comfortable with that.

It was no contest for us, we go home. We knew what to watch for, we had O2 if Kai needs it, and having Kai at home he’s less likely to catch anything that wafts through the hospital. So home we went. I feel like we’ve dodged a bullet.  I’m so so so grateful we didn’t stay overnight. Hurrah!! Kai is still not himself, but fingers crossed he recovers soon.

On fundraising with supermarkets

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Waitrose has a local community charity campaign… where every month they give £1000 split between three local charities. A while a go I picked up a form from the welcome desk about the applying process. It was just a small form about the charity and a little blurb. I posted it back in and didn’t hear anything back.

That is, until the next month when a friend noticed it while she was doing her shopping.

Two weeks later, we were very excited to see how many green coins out bucket has in it.

Honestly, it’s small things like this that make such a huge difference. Josephs Goal is the charity we support. It’s the only NKH charity in the UK. They, in turn, support Prof. Nick Greene, who we’re trusting to come through with a gene therapy cure. We’ve pinned all our hopes for a future on him. When I’m having a hard time, I’ll silently send a quiet moment of encouragement to Nick Greene + his team. I’ll send hope, and will them a step or two closer to a clinical trial. A step or two closer to a cure for Kai.

The thing is, Prof. Nick Greene is funded by families like us. And to be clear – there are only a handful of us fundraising for a cure with Josephs Goal. Less than the number of fingers on your hand.

Which is why a portion of funds from Waitrose is so profound for us. A few hundred pounds makes such a difference. (Thank you, Waitrose Southside goers for being so generous with your green tokens!)

So, here is my ask: if you live by a Waitrose that has a Community Matters program (or an Asda with their Chosen by You program or Tesco with their Bags of Help scheme) please pick up a local charity form. Nominate  Josephs Goal. Any info you need can be found on the website – www.josephsgoal.org.

It’s such a small thing to do, costs you nothing but a small amount of effort and could have such an impact for us.

Please help, if you can.

On the Piccolo Picnic

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Piccolo is a super cute baby food brand that’s just launched. Buggyfit is a fitness class for Mums and their babies in the buggy. Recently, I was delighted to be introduced to both – Piccolo launched their baby food range at picnic with our local buggyfit chapter, where we were lucky to be put forward as the charity beneficiary.

Oh my days, it was lovely to be out in the sun with some of our NCT friends (Kai is way too unpredictable to commit to regular buggyfit classes, but our NCT friends go). It was nice to hear about Piccolo and weaning, and watch the ladies play buggyfit games.

I did the spiel and we had a silent auction with some fab fab fab prizes. And to be honest, Kai and I just enjoyed hanging out with our NCT friends. It was beautiful afternoon out, London is amazing in the summer and when you’re in good company? All the better.

Thanks to everyone who came out, thanks to everyone who participated in the silent auction, who bought cards and made donations. Thanks to Jo from Piccolo and Eliza from Buggyfit, and thanks to Clare and Jenny for putting us forward. We love you guys xx

On visiting Wearne

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Recently, with Sam’s parents, we drove down to Somerset to spend some time Pam and Robert.

I love Wearne. I’ve been visiting since my very first winter in the UK and I’m so grateful to have a place where I could anchor in the UK. If I was traveling and didn’t want to go back to London, I’d go to Wearne. Anytime I was feeling a little lost or unsure or just wanted to be in a place where things felt solid, it was to Wearne I went.

Unfortunately, this time is soon to come to an end, as the beautiful house is being sold as Pam and Robert move on to new and exciting things. It meant that this trip was special – that was we were able to take Kai down, knowing this could be one of the last times in this big old house of memories felt precious.

In the end, I was like every trip to Wearne is.  It was a wonderful wonderful weekend of country lane walks in the rain (so very very wet) and cuddles with the dogs and amazing food and lots of wine. Of laughs and silliness and amazing company. I got stung by stinging nettles picking strawberries – I ALWAYS get stung at Wearne! Sam and Pam fetched me Doc Leaf (the magic cure)

We added a few fun things this trip. Baths in sinks and fish & chips with champagne. The best bit was the sheer amount of love.  Kai was loved on so hard by his Grandparents, and by Pam. Even by Pam’s Mum Dorothy, who point blank didn’t want to hand him back when it was time for her to go home. It made me laugh, the insistent baby cuddles with (if my Dad was to ever marry his partner, she would be) Kai’s Great Great Step Grandmother.

I’m so grateful we have so many people who love us and care and are willing to openly show how much they care. We came away from that weekend so refreshed (right until we hit bank holiday traffic back to London, but that’s something else).

I’m glad we went. Such a good weekend.

On having a shouty, vocal baby

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Kai is becoming very very vocal. It only happens when Kai is well, when everything is under control so even though he’s a bit shouty, I am *delighted* to hear his little voice! Even when he’s screaming. Most people get quite upset when their babies are very loud, and very upset.

But… we know that sick babies are silent. In intensive care, you could be sitting with your baby and not even realise there were 15 other babies in the same room. Sick babies are silent, and I’ve spent many hours in Kai’s silent company (stupid seizures, stupid coma), so I don’t think I’ll ever tire of hearing him express himself vocally. Hearing him chat away, it’s just the best.

It’s the small things, hey? That’s what we’re appreciating today.

On how to say NKH + wine

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We’re having another fundraiser!

I know. Another one. We are *relentless* in the pursuit of a cure. Cures need funding – especially for one as rare and as unknown as ours.

Let’s try a thing right now – you probably know that Kai has NKH. Do you know what NKH stands for? Can you pronounce it without stumbling over all the many syllables that it has?

It’s okay, we couldn’t at first either. Nonketotic Hyperglycinemia. In the beginning, my eyes would kind of glaze over the ‘glycinemia’ bit and I’d slur it into one really quickly as if by slurring no one would know I couldn’t say it properly. In the end I went away and had a bit of a practice. If I had to practice it I don’t expect anyone else to be able to say it right off the bat.

But… if you can’t say it – if it’s not even easy to pronounce, how can we spread awareness about it? How can we raise all the money for a cause that no one knows about?

So – Nonketotic Hyperglycinemia.

The first bits pretty easy: Non.

The next word, phonetically:  Key-tot-ic

Ketotic means the body is using energy from ketones in the blood. When the body breaks down fat, it breaks them down into ketones.

Nonketotic.

The last word Hyperglycinemia.

Phonetically:  Hyper (that’s pretty easy) Gly – sin – e – me – a

Hyper essentially means elevated. Glycine is an amino acid – it’s what Kai can’t process. All together Hyperglycinemia is where there are high levels of glycine in the blood.

NKH. Nonketotic Hyperglycinemia.

Do you know what’s easier than practicing how to say Nonketotic Hyperglycinemia??

Drinking wine.

Lots of delicious wine. By the Thames. In a fancy fancy sailing club like we’re all very well to do. We’re doing a wine tasting in a sailing club. It is going to be delicious.

When: Sat 12 August, 3:15pm
Where: Ranleigh Sailing Club, Putney, SW15 1LB
Cost: £5 to book your ticket, donate what you think it was worth on the day
Tickets: www.bit.ly/wineforkai

Please come, if you can. We’d love to meet you, and hang out and drink wine.

Thanks to Chris at Majestic Wines in Putney for donating his time for the wine tasting, and Sohail from the fab Clia Care for donating the time at the venue + palette cleansers. You guys are amazing and we love you.

On Charlie Gard and his family

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Edit: 

I didn’t realise today would be the day, so this is a terribly timed post. Oh Charlie. Fly high little guy, you’ve touched millions of hearts worldwide, you were well loved. You will be so missed.

x

——–

I’ve mostly kept my tongue about Charlie and his parents (apart from that one misguided and horrific sun piece, but even then I was throwing my support their way).

I’ve held my tongue because none of us can know what it’s like for them. Not even us, with Kai having spent so many weeks in intensive care, and in hospice on end of life care. With his seizure coma and on a ventilator being told he may die. Not even with our own horrid genetic and terminal disorder. We’ve lived through the horrific. Just in case you wondered what that time for us looked like…

We lived through the horrific. We continue to live through the horrific. And the worst is still to come. 

And yet, our story is not their story. Our lives are not theirs, and our decisions aren’t theirs either.

So many people have condemned Charlie Gard’s parents for doing what they do. I’ve seen comments about how they should always be at his bedside, or should have fought harder at court, or should have let Charlie go earlier. I’ve seen and heard comments that attack their characters, that talk about dignity and death in the same sentence. That talk about quality of life like they know what that means for Charlie. I’ve seen comments about the hospital, and their staff. I’ve seen a lot of judgemental and unnecessarily hateful comments.

Shame. Shame on anyone who thinks even for a second they know what Charlie’s parents should have done. Who thinks even for a second that this family deserve any kind of judgement, any kind of passing comment.

They’re just parents, hey. They’re just doing the best they can for their child they love.

Their best may be different to your best, but that’s okay.

Worse, the least empathetic comments I have seen have come from special needs parents. Parents who have spent time in intensive care. Who have faced end of life and hospice and saying goodbye.

Truth is, how we face those horrors is our own personal nightmare. None of us manage in the same way. None of us can truly know what it’s like for Charlie’s family. When we were in intensive care facing everyday was filled with shock and emotion and grief and hope. Nothing was straightforward, everything was hectic and crazy and we spent a lot of time trying to balance what we hoped with what we knew and what we were being told. I can’t for a second imagine what it’s been like for that small family. Add in the media and the court case and the judgy public, it has to have been 11 months of an insane emotional rollercoaster.

I also feel like we were given a sliver of their life. Just a tiny peek.

Enough to know that compassion and sympathy should be the first port of call, enough to recognise this family is on a very different path to the one everyone else is on. We don’t need to stand on our little soap boxes and point down at them, they’re already living with their decisions. They’re already in a world of grief and hardship.

Let’s not kick them when they’re down, hey. We should be better than that.