Ellly

Kai can’t hold up his head. I’ve dropped the yet from that sentence, and as I type this I’ve got a lump in my throat.

My baby boy is ten months old and he can’t hold up his head. It’s why in almost all of the photos of Kai you’ll see us carrying him like a newborn, supporting his head.

When most of his peers are pulling themselves up on things, cruising and generally little whirlwinds of energy and curiosity, when typically babies at two months can hold their head up… it’s hard to know that Kai can’t. (I’m silently thinking yet, but it’s not a surety despite the hope that accompanies it).

When we were told many many months ago, way back in that little room in NICU, weeks after Kai was born that he was going to have a profound developmental delay I didn’t really listen. Because at the time, what I heard was that my baby was going to live.

To have profound disability, you had to live. Anything beyond that we’d deal with, I was sure of it. We’d do daily physio and whatever and Kai would be fine, because he was going to *live*. Anything else came secondary.

Truly understanding what everything past ‘living’ would mean has taken months of grief and therapy. It’s taken living it. They were right about the developmental delay. Head holding is the foundation for most skills. Without head holding there can be no sitting. There can be no crawling. There can be no standing.

And the standing is an important one, because weight bearing is how hip sockets are formed properly. Without weight bearing, Kai’s hips risk hip dysplasia and dislocation (and pain).

Sitting is also important – the more his core is engaged, the less likely he is to develop scoliosis and require an uncomfortable plastic brace or surgery with metal rods.

But to stand you need to be able to sit first. To sit you need to hold up your head.

And Kai can’t do that, despite our daily efforts. Every day, before his feeds, if he’s awake we do a little bit of physio. Five – ten minutes at a time. Little and often.

We support his core with a support band designed for an adult thigh, wrap it around his belly like a stabilising support brace and ask Kai to hold up his head. (Thanks Kirsty for the tip and the brace!)

On a good day, he’ll manage a few seconds. On a bad day, he’ll be like a rag doll.

We do a bunch of other things throughout the day. Sidelying, tummy time, rolling. We spend a lot of time repositioning his hips – this is easier now thanks to his superman hipp helpers support shorts – their sewn together so Kai’s natural position (a wide splay) isn’t as easy to get into. Better for his hips.

And yet, despite all our efforts, we’re still high risk of scoliosis, and hip dysplasia. We’ve been referred to paediatric orthopaedics, another medical professional on our already very large team.

I know. I know it’s early days still. And Kai might manage to hold up his head one day. That he’s on his own path and going at his own pace and today is not the day for head holding.

But as every day goes on, it’s hard not be a bit discouraged. We have so much hope for Kai, and it’s difficult to let go of that hope and still be comfortable in the world of developmental disability.

So, every day. Physio. Every day excercises and repositioning. We hope for progress. Fingers crossed, hey.

We know that Kai has two mutations that cause Nonketotic Hyperglycinemia.We know because when he was diagnosed we sent Kai’s blood off for DNA testing to confirm he does have the mutations. We know where they are: he has two mutations in the GLDC gene of the 9th Chromosome,c.395C>T p.(Ser132Leu) and c.1108C>A p.(Gln370Lys). One is prevalent in New Zealand, in the Maori population (obviously inherited from me), and is severe. The other is a more mild mutation (apparently, or so we hope).

The next thing to confirm is that Kai inherited those mutations from us, his parents. So we went and talked to a geneticist. He had some lovely things to say about our options with future babies (as any child we have has a 25% chance of having NKH). Nothing we didn’t already know. He seemed surprised that we knew so much about NKH already, but explained that most his patients don’t have a diagnosis yet. Most have Syndrome Without a Name – that must be tough. I really really feel for those people. We’ve found such comfort in the fundraising, knowing we can fund and push a cure further a long.

The other funny thing was he felt the need to say that if we wanted to get our DNA tested next to Kais, that the paternity would be revealed. I thought it was an obvious conclusion, but apparently not to everyone. It turns out that he has quite a few patients who call back the next day to ask him to leave some children off the test because they have different fathers! Isn’t that crazy? Apparently, it happens more than you’d think. So crazy.

So yes. We went, we got bloods done. And now we wait four months of our genetics to come back to make sure Kais mutations were inherited, and not a random mutation.

It’s not super relevant right this minute, but if we ever wanted to have more children at some point, it would. We’ll see. I can’t possibly imagine having the energy for a second child, but one day, maybe.

We’ll see.

Kai has pretty frequent seizures. Every day, he seizes. It’s been a while since we’ve had a seizure free day, and while we strive to get back there, we manage the best we can in the meantime. We don’t know when they’ll be, they could be caused by anything or everything. We don’t know all Kai’s triggers, so we can’t protect against them.

If you pair the seizure lottery with visits from our nearest and dearest – sometimes, when other people are holding Kai, he’ll seize. Not because of anything they’re doing, it will just happen. I really struggle with what to do in those situations. I can see it coming a mile off – before the person holding him even realises something is amiss, I quietly check the time, and then I’m torn.

Do I move him? I don’t want to move him abruptly, picking him up and taking him back can make it more difficult for Kai, and doing so can be startling for my friend. I don’t want anyone to be alarmed. Do I keep quiet? Sometimes his seizures are subtle, and if you don’t know what’s going on, you might not even notice that a seizure was happening.  

Usually, I calmly ask my friend not to be too alarmed and explain that Kai’s having a seizure. We’ll gently move him on his side and count it out, wait for him to recover.
I make sure I look and sound calm, which calms my friend and we gently love on Kai till the seizure is finished, till he’s recovered and then I’ll take him back. 

Typically Kai will sleep, and I’ll make an effort to resume our conversation, acknowledging that it happened but firmly moving forward. I don’t want there to be a fuss, this is our everyday. We manage, no fusses required. 
I’m always shocked at how raw I feel for Kai when this happens. The reaction is always the same: shock, tampered down alarm, pity, a bit of sadness thrown in. It’s always going to be a bit alarming when Kai seizes in your arms. When you’re not sure what to do, and it’s all so unexpected. 
I want to spare Kai that. I want to spare Kai other peoples feelings. I never want him to feel like an object on display (which is why we’re very careful what we share in the name of awareness, and what’s kept private) and I never want him to feel like he’s the centre of a spectacle. I’d like for him to have some dignity, and having seizures in public… it makes it difficult. We can’t hide them or prevent them. I’m also not willing to hide out at home 24/7, so we don’t. 

It’s only later that I’ll let myself feel all the raw feelings, the sadness and just straight up unfairness that NKH has delivered to Kai. 

Honestly, parenting a special needs baby is a continuous exercise in grieving. 

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.

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.