#nonketotichyperglycinemia

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There is this new thing Kai does... it happens slowly, one wriggle at a time. For someone who is meant to be immobile we're delighted to see our guy intentionally move himself elsewhere!
#nonketotichyperglycinemia #glycineencephalopathy #teammikaere #specialneedsbaby #nkhcansuckit

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.
#teammikaere #nonketotichyperglycinemia #glycineencephalopathy #specialneedsbaby

It's been a long two weeks and this poppet is still in hospital. His G tube came out after only a few days so back with the NG tube until we work up G tube feeds again #tubiebaby #tubie #feedingtube #sickkidshospital #sickkidsvstheunkown #maddensjourneywithnkh #nkh #auntielove #caregiver #medicallife #medicalaunt #rare #raredisease #ngtube #gtube #nonketotichyperglycinemia #glycineencephalopathy #infantilespasms #westsyndrome #IS #elilepsy #gerd #hypotonia

Missing my baby girl bad this morning. I will never be whole without my baby...how I wish I could hold her and kiss her and feel her sweet tiny nose on my cheek again...she should be here with us, playing with her siblings and giving mommy and daddy loves... R.I.P. my sweet Angel mommy loves and misses you terribly.
5/13/11 - 5/24/11 😔😢
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#infantloss
#NKH
#nonketotichyperglycinemia

He only rolls on his right side and hasn't managed to get back to his back. But I think he's trying! #nonketotichyperglycinemia #nkh #epilepsy

Hey team, you can help raise funds for NKH research simply by tracking your steps. No fundraising needed on your part, just your everyday movement and a smart phone.

All you need to do is mark 'going' to the Walking with Fiona event on FB (#linkinprofile👆), track your steps from the 22-27th of August, and email your mileage at the end.
That's it! Fancy tracking your steps for charity and research? We are! Walks, yes! 🙌

#teammikaere #fundraising #nonketotichyperglycinemia #soEasy #solidarity #fundingacure #easyAsWalking #helpusfundacure #getInvolved #joinUs

Woo! Spent today putting together a hamper for the 🍷🍷WINE TASTING 🍷🍷 that's happening THIS Saturday! If you fancy drinking wine and feeling smug because you're helping fund a cure for very sick children, then you should definitely come. £5 a ticket to book your spot, donate what you think it's worth on the day. Super looking forward to it. If you want to come, tickets available via the #linkinprofile👆
#fundingacure #nonketotichyperglycinemia #glycineencephalopathy #teammikaere #nkhfighter

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Hey team, you can help raise funds for NKH research simply by tracking your steps. No fundraising needed on your part, just your everyday movement and a smart phone.

All you need to do is mark 'going' to the Walking with Fiona event on FB (#linkinprofile👆), track your steps from the 22-27th of August, and email your mileage at the end.
That's it! Fancy tracking your steps for charity and research? We are! Walks, yes! 🙌

#teammikaere #fundraising #nonketotichyperglycinemia #soEasy #solidarity #fundingacure #easyAsWalking #helpusfundacure #getInvolved #joinUs

New post on the blog! Kai's meds are crazy, but there are only two must-haves that we need to pick from the hospital. Of course, these must haves are difficult to get hold of (meaning at least 2 weeks lead time) and of course they're only used for NKH, and are shipped in especially for us. ⠀

This means no back up stash and when they're out they're out.⠀

I'm continuously frustrated with how medically necessary care for my son comes down to strangers we don't know doing their jobs well. ⠀

Crazy, hey? More on the blog! #linkinprofile ☝️ ⠀

#nkhawareness #nkhcansuckit #nkhfighter #specialNeedsParents #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #specialneedsbaby #moreMoneyMoreResearch #scienceWillWin #teamMikaere

Love him more than life. If I could trade mine for a cure, I'd do it in a heartbeat. ❤️ #zander #zandersstorynkh #nkh #nonketotichyperglycinemia #epilepsy #love #mylittlebumble #ifhnkh

We 🐝 beelieve in a cure! Do you? Coming soon NKH Beelieve Heart in women's boyfriend fit tee, unisex tee, and kids tee. All proceeds will go to NKH research. If all goes well, I'll release a new Beelieve NKH design quarterly! Special thanks to Sinae for putting together the graphic for us and @hybrid.apparel for working with us on this! ❤️ #nkh #beelievenkh #nonketotichyperglycinemia #zander #zandersstorynkh #research #epilepsy #ilovemyjob

New Post on the Blog! The Birthday Bash Fundraiser. ⠀

There's something really heartwarming when a community of people take you in as one of their own. When a group of people celebrating milestone birthdays rally together around your little family. ⠀

So many people stopped to tell us they read the blog, or they were praying for us, or even just to admire Kai's cuteness (it's lovely to have a reason to gush!)⠀

So many people care about Kai, and we're grateful. So grateful. This party also managed to be one of our top fundraisers! Guess how much we raised?!⠀

More on the blog, #linkinprofile ☝️#nkhawareness #nkhcansuckit #nkhfighter #specialNeedsParents #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #specialneedsbaby #moreMoneyMoreResearch #scienceWillWin #teamMikaere

One of us is really really excited about the NKH Conference that is happening tomorrow. One of us is napping.
We're really lucky that some fab brands were happy to donate to our NKH Goodie Bags! Big big thank you to @mylittlepiccolo for supplying the fab food pouches, and @sensorytoywarehouse for some of the sensory toys!
Looking forward to tomorrow!! #nonketotichyperglycinemia #glycineencephalopathy #powerInNumbers #nkhconference #specialNeedsParents #gettingInvolved #goodieBagsAreSoFun

Hey team, do you fancy helping us raise funds just by walking?
Fiona is a little NKH bee, just like Kai. Her Uncle is walking 67 miles along the Notre Dame Trail, and for every person that joins him remotely, he will donate $1 for every mile we collectively walk. What's more, that amount will be MATCHED by his friend Aaron.

All you have to do is:
- sign up 'going' to the Walking For Fiona event on Facebook (link in profile)
- Keep track of your mileage on your Fitbit, or a walking app like 'Walker' over the five days between August 22 - 26.
- Share your miles at the end!

That's it. So simple.
All funds are going to the NKH program under Dr Houlder at Notre Dame's Boler-Parseghian Center for Rare and Neglected Diseases, who is working on Chaperone Therapy.
Are you in with us? Xx

#nonketotichyperglycinemia #fundraising #fundingacure #glycineencephalopathy #easyAsWalking

New Post on the blog: 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?
More on the blog!

#teamMikaere #linkInProfile #nkhawareness #nkhcansuckit #nkhfighter #specialNeedsParents #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #specialneedsbaby #moreMoneyMoreResearch #scienceWillWin

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

More on the blog!⠀

#linkInProfile #nkhawareness #nkhcansuckit #nkhfighter #specialNeedsParents #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #specialneedsbaby #moreMoneyMoreResearch #scienceWillWin

About Zander's spare parts. #broviac #gtube #iv #epilepsy #nkh #nonketotichyperglycinemia https://www.zandersstorynkh.com/single-post/2017/08/13/Spare-Parts

Woo! Spent today putting together a hamper for the 🍷🍷WINE TASTING 🍷🍷 that's happening THIS Saturday! If you fancy drinking wine and feeling smug because you're helping fund a cure for very sick children, then you should definitely come. £5 a ticket to book your spot, donate what you think it's worth on the day. Super looking forward to it. If you want to come, tickets available via the #linkinprofile👆
#fundingacure #nonketotichyperglycinemia #glycineencephalopathy #teammikaere #nkhfighter

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⠀


#nkhawareness #nkhcansuckit #nkhfighter #specialNeedsParents #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #specialneedsbaby #moreMoneyMoreResearch #scienceWillWin #teammikaere

New blog post! https://www.zandersstorynkh.com/single-post/2017/08/06/NKH-Research #nkh #nonketotichyperglycinemia #epilepsy #nissenfundoplication #research #fundraising #hybridapparel #zander #generousity

Recently, with Sam's parents, we drove down to Somerset to spend some time Pam and Robert.⠀⠀
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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.⠀⠀
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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 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.⠀⠀
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In the end, It 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)⠀⠀
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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. ⠀⠀
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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). ⠀⠀
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I'm glad we went. Such a good weekend. ⠀⠀
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#nkhawareness #nkhcansuckit #nkhfighter #specialNeedsParents #nonketoticHyperglycinemia #glycineencephalopathy #raredisease #specialneedsbaby #moreMoneyMoreResearch #scienceWillWin #teamMikaere

There is this new thing Kai does... it happens slowly, one wriggle at a time. For someone who is meant to be immobile we're delighted to see our guy intentionally move himself elsewhere!
#nonketotichyperglycinemia #glycineencephalopathy #teammikaere #specialneedsbaby #nkhcansuckit

He only rolls on his right side and hasn't managed to get back to his back. But I think he's trying! #nonketotichyperglycinemia #nkh #epilepsy

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