Pudding peering around a tree with a huge cheeky grin.

Rest in Preparation

Last month I booked a burial plot for my ten year old son.

In the foreground there are bluebells at the foot of a tree. The blurred background has a grassy path with dandelions passing through longer grass and trees. A few wooden stakes mark out plots.

That’s a sentence I never expected to have to write when I first got pregnant. Even when he was diagnosed with a life-limiting condition and I was dealing with all the emotional fall-out, I still didn’t really believe it. That is, I did believe it but I don’t think you can ever truly grasp the reality until you’re closer to it. Let’s face it, when you’re watching a cheeky 3 year old making another bid for escape from the play-park, it’s hard to think of those details.

We may still have years yet before we need it, but we’re definitely closer than we were. Seven years down the line and my chunky active toddler is now a ten year old in a six year old’s body, with the joints and mobility of a much older adult.

Ever since Pudding was diagnosed with MPS (Hunter Syndrome) I’ve always faced this journey we’re living by wanting to know as much as I can about what’s coming. And death is no exception.

And yet, it’s been hard to contemplate the realities of death and all that it seems to entail. A black hearse with flowers in the shape of his name, just like the one in a TV programme that bulldozed Hubby and I when we were watching it. Regimented rows in the cemetery with bunches of flowers and fading teddies. I didn’t want any of that.

I’ve always fancied a green burial myself and when I started looking into that for Pudding I came across the Natural Death Handbook. It was a revelation to me. Not just full of advice about natural burial grounds and finding a funeral director, it’s also got personal stories of how people have done the whole thing themselves. Stories that have made me cry, yes, but also smile and laugh and say ‘Oh yes that’s how I want things to be!’ Stories that take away some of the fear.

We don’t have to have a sombre ceremony in a crematorium. We don’t have to have a hearse. We can hire a hall and decorate his coffin with ribbons and drive to the graveside ourselves. Or not. I don’t know the details yet. But having had a fairly unconventional wedding, it’s comforting that we can do an unconventional funeral too. Our way.

I was apprehensive when I visited the burial ground for the first time. Would it make me sad? Would it live up to my expectations? But when I walked down the little lane in February there were birds singing and bulbs starting to come up. Pushing the gate open and taking it all in, the first thought that popped into my head was of Pudding in his cheekier days peeking out around a tree. And I knew it was the right place for him.

Pudding peering around a tree with a huge cheeky grin.

I just hope it will be a while yet before this new reality kicks in.

Lobsters

When Pudding was first diagnosed with Hunter Syndrome (MPS) at three years old his future was laid out before us.

He would continue to gain skills for a few years, albeit slowly because of his learning disability. Then his ability to learn would plateau, with everything staying stable for a while before the learning curve started to fall in the other direction. Skills and abilities would be gradually lost until his body couldn’t take it any more and he would pass away.

It was all so very unreal at first.

In that first summer, when the sun was shining and I was surrounded by people enjoying their normal lives it just didn’t seem possible that I would some day have to say goodbye to my gorgeous boy. Watching him pull every book off the bookshelf in turn just to look at one page then discard it, or chasing after him when he made yet another bid for freedom from the playground, it didn’t make sense. Even when I was holding him down for another needle, or getting the results from the latest tests on his heart or airways (tests that already showed deterioration that I was previously unaware of) I still half-expected someone somewhere to tell me there’d been a mistake. The blood test had been checked again and everything was fine: he didn’t have MPS after all. A pipe-dream, of course. That call never came.

I’m not sure I can identify when his skills started to plateau. I do remember the joy of any small win. Watching him jump for the first time, hearing a new word spoken, seeing him respond to a simple command – these were all causes for celebration. Yet how can you truly tell when the little gains stop? It’s not something you can easily quantify. All you can do is suddenly realise that it’s been a long time since any new skill has been ticked off on the inevitable questionnaires.

Even then, as other parents saw me going from 0-60 to run after him yet again, I would joke that for a child with a life-limiting condition he was ridiculously healthy. Yeah, I know, inappropriate humour becomes a bit of a survival mechanism.

Close-up of Pudding's face - he is looking with concentration at something off the screen.

Now though… Now there’s no denying that we’re on that downward curve. Pudding no longer runs anywhere – he has to be persuaded to move from his chair. He still enjoys some food, but it’s taking him longer and longer to eat and his (much-delayed) gastrostomy is becoming more necessary. He is on medication for his bowels, for reflux and for joint pain and stiffness. Less mobility means more circulation problems and chilblains recently became an issue. Then just before Christmas, my poor boy started getting periods of gelastic seizures – bouts of laughing or crying for no true emotional reason. (And before you ask, the periods of laughing aren’t cute. After a few hours, they sound hollow and rather creepy.) Whereas before he would greet the whole world with open arms and a big grin, now we have to work hard to get even a brief smile.

As the medical issues stack up, all I can do is look out for the next lot of symptoms and hope that we can keep him as safe and happy as possible.

They say the lobster in the pot doesn’t know what’s coming, doesn’t notice that the water is getting hotter. Unfortunately, I’m not a lobster.

How long?

How long do we have?

It’s an inevitable question once your child is diagnosed with a life-limiting condition. It’s a question I’ve asked our consultant and one that others have asked me.

How long do we have?

How long before we know for certain? How long before we will see the benefits of treatment? How long before he loses his speech? How long before he can no longer walk? How long before he needs peg feeding? How long before it becomes too much for his heart and airways? How long do we have? How long? How long…

The answer to the ultimate ‘how long’ is elastic. It was cut brutally short at diagnosis but stretched again when enzyme treatment started. When it was confirmed that Pudding had the worst possible outcome (a complete gene deletion) that elastic contracted again. And then it eased out again once he got onto the clinical trial.

Our boys all seem to react to Hunter Syndrome so differently – some are plagued with chest infections, ear infections, hernia and so on from the get go. Others like Pudding seem to escape much of the bodily effects and present mostly with development delay. So when it comes to asking ‘how long’, there is no easy answer that the doctors can give.

But now having stopped the trial and no longer having treatment, we’re back to that pitifully short length of elastic that we were left with when we first had his diagnosis confirmed.

How long do we have before he will no longer reach out to hold my hand? How long before that infectious and increasingly rare smile disappears for ever? How long will I still be able to hold his solid little body to mine? How long before I plan a funeral? How long…

One of the hardest things I’ve ever had to do on this MPS journey was just before the final diagnosis. Hubby (who I’d kept in the dark about all my late night googling) suddenly asked me, ‘So what’s the worst case scenario?’ and I had to tell him that we might lose our little curly-haired livewire as early as ten years old. That’s not likely to be the case now. At least I hope not: he’s already nine and a half. Most estimates of life expectancy before enzyme treatment became the norm were around 14 years.

And yet, I continue to count our blessings. It may seem strange, this insistence of mine on our good fortune, but compared to some other families I know of, we are lucky. Although Pudding is declining, although his condition is life-limiting, we are not yet in the life-threatening stage. I don’t go to sleep worrying that I’ll lose my child to a seizure in the night, or have another acute illness hanging over us.

How long do we have? It could still be years. It could be quicker than we expect.

Maybe some day we will be sat in another clinical room and the consultant will shake his head and say, ‘I’m sorry, you only have…’ Maybe if I had a crystal ball I could check and see how long that will be.

But when it comes down to it, I’m not sure I want to know.

Quilt

Some places are just special. Martin House Hospice is definitely one of those.

You feel it as you walk in. The welcome smile, the rainbow of pictures, the jars of cakes – it all feels like one big warm hug.

Of course we haven’t actually been there for a while. We were due for a visit at the end of March 2020, but then…well, I think you all know what happened. But Martin House has still been there for us. There have been parents’ meetings on Zoom complete with a delivery of cakes, activities sent through for siblings. And most importantly, there has been somebody at the end of the phone when Pudding has given us a worry (which he always seems to do on a weekend when it’s much harder to reach our normal hospital staff!)

Many charities have struggled over the past year and a half as normal fundraising events have been cancelled and donors have been faced with different priorities. So when my aunt let me have a beautiful quilt that she had sewn herself and asked me to use it to raise some funds, I knew exactly who I wanted to benefit.

This lovely purple hexagon quilt could be yours. To be in with a chance, follow the link below and donate at least £4.

I’ve chosen to do a ‘hundred square’ fundraiser, so everyone who donates has a fairly good chance! Well, better than a standard raffle anyway…

Just click- here – to make your donation and don’t forget to choose the option that will allow me to contact you or otherwise I won’t be able to let you know if you’ve won!

They will never know…

A while back, Pudding and I went to meet T at the school gate for the first time in ages. This is the mainstream primary that Pudding also attended for the first year and a bit of his school life. Loads of people noticed him and came out of their way to say hello to him – the lollipop man (probably not the right term, these days!), parents from T’s year, but also children who remembered Pudding from his time there.

I found that hard, as I knew how much he had changed in the last three years and felt that I needed to warn the children. That he might smile at them but wouldn’t interact in the way he used to. That he likes people saying hello to him but might not show it any more. I thought it would be hard for them to understand and reconcile their memories with the reality.

Later though, I thought more about it and realised that at least all these people do have memories of him, which will hopefully last. Much tougher for me to accept is that people who meet him now will never know the whole of him.

They will never know the little 5 year old who would thunder around school with a massive grin, making himself known to everyone. They’ll never have seen the Year 6’s queueing up to give him high fives. They missed him taking over the headmaster’s office and making himself comfortable in the spinning chair. They’d have to imagine him (with probably once of the worst attendence records in school) gatecrashing the ‘100% attendance breakfast’ and demanding juice.

Anyone seeing him now, passively watching the TV, wouldn’t know that once he pattered on stage at the travelling panto to ask where his favourite pantomime cow had gone. That at the donkey sanctuary he would run around telling everyone at top volume that there were ‘Dong-key!’ as if they might not have noticed. That everywhere he went, he greeted the whole world with joy and openness.

Boy with huge grin wearing Star Wars T-shirt running towards the camera. Man in baseball cap and glasses in background.

Those who don’t know him will see a child at the playground who needs to be persuaded to leave his wheelchair and clings to me for balance. They would never believe that I used to watch him like a hawk, that he would peer round at me with a cheeky grin and then make a beeline for the gate out to the road. That I would have to go from 0-60 in five seconds flat in order to catch him.

They won’t see the boy who would earnestly babble to his breakfast. Or wait at the window to watch for his Daddy to come home, then run to the door and catch him by the hand to lead him into the house. They’ve never known the delight of watching him hide behind a cushion to play peekaboo and then giggle so infectiously that you couldn’t help but join in.

Those who take the time to know him now still love him, and of course his family’s adoration has no bounds. I don’t really know what any random stranger meeting Pudding would make of him, but I do know that they have missed out on the most adorable child, more packed full of character in those few years than many people manage in a lifetime.

Celebration

So tomorrow is Pudding’s last ever Enzyme Replacement Therapy, the end of preventative treatments for his condition and I guess in a way the official start of the final stages of mucopolysaccharidosis. But I don’t want it to be a day of mourning for what might have been.

I want it to be a time to celebrate.

To celebrate our consultant who never dictates but makes every decision a collaboration with us, and tried all he could to get around Pudding’s stupidly strong immune system.

Celebrating the scientists who made this treatment possible and those who are still working on new and better approaches.

I want to celebrate our specialist nurse based in Manchester who has always been an immensely patient go-between and coordinator for all things medical.

Celebrate our NHS – an amazing organisation that has provided this expensive medicine for Pudding without us losing everything or having to go bankrupt.

But mostly today I want to celebrate the homecare nurses who have been almost part of our family for the last five and a half years. They have administered this ERT week in week out, being a reliable steadfast presence through the most difficult of times. They have been a sounding-board for medical stuff, a listening ear for worries and cheered for our successes. They have cuddled Pudding, held his hand and loved him as much as we do. They have listened to T’s school work, played games with him and even thrown themselves around on the Wii. They have treated Pudding at school, getting fully involved in all sorts of class activities.

Nurse sitting on sofa with notebooks, wearing mask and white coverall PPE. She has smiling eyes.

Since the onset of Covid they have still come to our home, working in PPE coveralls and masks for the four hour infusion. They have continued to come through staff shortages and their own family stresses. They have been meticulous about cleaning and keeping everyone safe. They have been a breath of fresh air and sanity throughout a challenging year. They are amazing.

I won’t miss holding Pudding for needle pokes, or lugging heavy boxes of supplies around. But I really will miss these lovely people.

End of an era

Back in July 2015 I held my newly diagnosed son down as a needle was put in his hand and then watched in awe as liquid magic was pumped into him. A synthetic version of the enzyme that his body was missing. A treatment that would start clearing up all the waste products that had, unknown by us, been building up since he was born. Amazing science that would give him more energy, less pain, a more normal life.

He has had this four hour infusion every week since – almost six years – with only a few exceptions for holidays or when he was sick.

On the 7th May I will hold him again and watch as he receives his last one.

You see, when I wrote last week about an email from school making me cry, I wasn’t being entirely honest. Yes, it did catch me by surprise, but the reason I was vulnerable right then was because I was waiting to speak to Pudding’s consultant via a video call and I knew what was coming next.

A while ago we had some difficulties with Pudding’s portacath during treatments – the pressures were ridiculously high, almost to the level where the pump would simply stop working. So we were having to think about what we would do if things got worse. As always, it’s hard making decisions without full knowledge so we got some blood and urine samples taken.

The results were back and I knew it wouldn’t be good news.

A close up photo of boy with curly hair with his thumb in his mouth. He is not smiling.

We’ve known for ages about the antibodies he’s developed that work against his enzyme infusion (that’s why we withdrew him from the clinical trial back in 2019) and all the outward signs have been that the weekly treatment was no longer doing what it was supposed to.

Last week we got the confirmation. The waste products in Pudding’s system are now 4 times higher than the top of the normal range for his age. (At diagnosis they were 2.5 times higher than normal, and they should normally come down as we get older). And in ideal test-tube conditions, only 10% of the treatment will be getting into his cells.

Although we have not been doing any harm continuing to give him weekly ERT, we can pretty much say with certainty that we are not doing any good.

So, it’s time to stop the needle pokes. Time to wave goodbye to the massive box of medical supplies. To free up space in the fridge and let my salad drawer be full of salad rather than medication.

I know that it’s not going to change anything for Pudding (other than another day back at school each week). The really hard decision was withdrawing from the trial which was intended to be a life-saver. All the ERT has ever been since, is a way of helping him feel more comfortable. But that doesn’t stop me feeling all the feels.

The end of an era.

Theory vs Practice

This week I got an email from school that made me cry. It was nothing nasty, nothing insulting, but quite the opposite. Written kindly and sensitively just as I would expect from this lovely place. But it really took me by surprise how I reacted.

Earlier in the day I’d spoken to a continence nurse for our first appointment since the service had been reallocated to the children’s centre. She was looking at Pudding’s details and trying to get a proper picture of his toileting needs. As part of that she of course asked about his diagnosis.

As usual, I reeled off the top-line facts about his Mucopolysaccharidosis Type 2: that we had no idea until he was 3; that his body can’t get rid of certain sugary waste products and so they build up; that he’s currently in the stage where he is losing skills; that the prognosis is not good. And as usual I heard that small shocked silence while the person on the other end of the conversation finds a kind and appropriate response.

I’m an old hand at these conversations. I’ve had so many of them. Maybe I come across as callous or uncaring when I give out these facts in such a matter-of-fact way. But the truth is, when I am saying these things I’m not talking about my son.

All these horrible facts describe what will happen to a theoretical boy and at a theoretical point in the future.

Oh, I know that’s not strictly true. I’m not really burying my head in the sand about what will happen to my gorgeous boy. I know that we are losing him to this horrible condition. But I guess that in a way I have learnt from the best teacher in the world. Him. I’ve often written about how Pudding lives in the moment – happy or unhappy with what’s there right in front of him, and no understanding of what will come in the future. It’s a good way to be sometimes.

So what about that email from school? Pudding has up until now been in an autism-provision class as he has had many similarities with these children – the need for structure and routine, and a sensory semi-formal curriculum. Even very recently I had wondered how long this would be suitable for him given the changes we’ve seen lately. But that was theoretical, my own private musings. The email confirmed my thinking and brought it into reality.

Practice feels much harder to deal with than theory.

Height

Do you remember those early baby days when you’d eagerly await the health visitor with her scales, or queue up at baby group to get your child’s red book filled in? Stripping off your squirming little bundle and plopping them screaming blue murder on the cold surface didn’t always feel kind but it would give reassurance that they were feeding ok and gaining the right amount of weight.

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I did have friends who had worries – babies ‘failing to thrive’ – but Pudding never had that issue. Born exactly on the 50th centile for boys (in other words, totally average) he very quickly headed up to the 91st centile, then the 98th (only two per cent of boys would be bigger) and then off the scale. We used to joke that he’d grow up to be a sumo wrestler.

His height wasn’t quite as impressive – he tended to hover around the 91st centile – but it did start causing me some concerns. Not healthwise at that point. No, it was because he was tall that people often thought he was older than his actual age. If you add in the development delay that was starting to be an issue before he turned three, his behaviour was often much less accepted and understood than it would have been from a smaller child.

On the second visit we had with our local pediatrician, the doctor made the comment ‘but he’s still growing well, which is a good thing’. It didn’t make much sense to me until I went home and looked up that word he’d said – mucopolysaccharidosis. Children with MPS2, which Pudding was eventually diagnosed with, tend to be big at first, but then growth tails off and stops as the waste products in their body build up. Before any treatment was developed, average height for those with the progressive condition was around 120cm (4 feet). Enzyme Replacement Therapy (the treatment that Pudding has been getting every week since he was three and a half) is hoped to lead to a much more ‘normal’ stature.

So maybe that might explain my touchiness on the subject when people who’ve not seen Pudding for a while say, ‘Oh hasn’t he grown!’ or ‘He is getting tall.’ Maybe my grouchy response of ‘No, he hasn’t.’ would be forgiven if they saw this picture. That chart in the red book so proudly filled in through the early years is now just another source of heartache.

Pudding’s height chart, showing that he has not grown since he was six and a half. His height is now below all the centile lines.

I know of course that there are many people out there of short stature who lead perfectly full lives. It’s not his height itself that particularly bothers me. It’s the implications of what it means. The implication of time running out.

Writing that, I’m acutely aware that I’ve never wanted this blog to become one long woe-fest, so I will point out the positives as well. If he was now the size of an average 9 year old there is no way I’d be able to pick him up as easily. He’s still a fairly solid 28kg (4.4 stone) which I can just about manage for short distances, with a careful eye on my back. Mostly though, I don’t feel so bad about continuing to use one of his other nicknames – Bubba. My baby.

Of course, T will always be my baby too, even when he’s grown up and off by himself in the big wide world, but I wouldn’t dream of saying it aloud. Pudding though… Pudding is a special case.

Middle Age

My son is as old as me.

Not chronologically of course – he’s eight and I’m 49. But the other day I realised that soon he’ll be nine, and in Hunter Syndrome terms that is getting closer to being old.

One of the blessings of being in lockdown again is not having to do the school run with T. Normally I do enjoy it; strolling along past the little lake, chatting about Minecraft or Pokemon or Last Avatar. Sometimes, I walk a different way which means I was more likely to see Pudding’s mainstream classmates – children he’d still have been in school with if MPS had not come into our lives. For a long time after he moved to his fabulous specialist school the obvious differences between them stopped bothering me. I stopped comparing him to them and wishing things were different. But last term the negatives began to creep in again. I would see them zooming along on scooters, so tall and growing more independent. And yes, it gave me a pang knowing that they would soon be walking to school by themselves, that so many possibilities stretch before them.

They are growing up but are far from old. Whilst Pudding is more like me.

I groan now when getting up off the floor. Pudding will no longer bend down to pick most things up off the floor (a tempting shoe to throw being one exception). I can hardly see to thread a fine needle like I used to. He is finding it more and more difficult to judge depth when stepping from one surface to another.

But while I know I’ve got years ahead of me before I am done with middle age, I don’t know about Pudding.

In the MPS world birthdays are scary. A birthday doesn’t just mean another year older. It means another year closer to old age. When a life can be cut off before adulthood, when is old age? 15? 13? 10?

I don’t know. And I don’t want to find out.