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.

i

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.

Disability

Yesterday was the International Day of People with Disabilities. The perfect time for me to write about something that’s been on my mind for a while. Only, true to form, I’m now a day late…

(I should also point out that it was originally called International Day of Disabled People, and many disabled adults that I follow would prefer it still to be so. If you are interested, there is a wealth of information out there on the social model of disability v the medical model.)

It took me a loooong time to describe Pudding as disabled. At first all we knew was that he was a bit behind his peers, then came the mention of development delay. But still I thought he might ‘catch up’. The diagnosis of MPS (mucopolysaccharidosis) meant having to alter all our preconceptions about what his life would be like. Yet I still didn’t really think of him being disabled.

Looking back I know it is down to deep-rooted beliefs about the word itself. I saw it as a fairly narrow definition for those with obvious physical differences. And, dare I say it, I saw it as a negative. Neither of which I wanted to use to describe my son.

Growing up I never really had much exposure to disability. I didn’t see many people out in society, very rarely on TV (although there is still a long way to go, this at least has changed massively since). At university I did volunteer for a project working with disabled children and young adults, but even in that context language and attitudes surrounding it never came up. Later I did know a few disabled people, but again the conversations just didn’t happen. So until Pudding’s diagnosis I was ignorant of so much of society. And I do feel guilty of that.

Pudding smiling widely seated in his wheelchair wearing a bright red coat with ladybird spots.

Over the last few years I’ve followed blogs and listened to disabled activists on Twitter. I know that disability is not a dirty word. I know that many disabilities aren’t visible. I know that an estimated 22% of the UK population is disabled in some way. And I use the word regularly to describe my son. Pudding IS disabled – both physically and mentally, and also by society in general. And that does not mean he himself is any less value as a person.

And yet, in a conversation the other day I felt bad for using the word. I was speaking to someone I’d only recently met and they asked about my work. Unlike the first years after diagnosis when I felt almost compelled to throw into conversation the awful prognosis of MPS, I tend to avoid it now. So I replied that I didn’t currently, that my son was disabled and ‘it was complicated’. Very true. Yet my tone obviously implied more, and their response was to say ‘I’m sorry about that’. That made me worry that I am continuing to perpetuate the outdated notion of disability being solely negative. But I don’t want to come full circle and kill conversations with the bombshell of ‘he’s got a life-limiting disorder’.

Some day I’ll find the right way to respond to a simple question!

Seeing things differently

When Pudding was diagnosed with a rare progressive condition that I’d never heard of (I mean, who HAS heard of mucopolysaccharidosis in the course of normal life) I knew that nothing would ever be the same again.

I was right. It hasn’t been. But that doesn’t mean that life is over, that everything will always be bad.

When he was first diagnosed, other parents told me that the first six months to a year were the hardest. I tried to find that helpful but couldn’t really see myself going back to feeling normal again, not feeling all that fear and grief and anger. It just didn’t seem possible.

Five years on, and a friend, another MPS mum, recently messaged me with this photo that she’d just come across in a back copy of the MPS Society magazine. To her, it was just a lovely photo – Pudding reaching over to me as I leaned on his hospital bed.

To me, it was so much more than that. It was a reminder of the day our fears came true. The day, a few months after diagnosis, that we finally got the results from his DNA test, confirming a complete gene deletion and therefore the worst possible outcomes from his condition.

I mentioned that and she immediately apologised, wishing she hadn’t sent it. But as I told her, I truly didn’t mind. For despite the circumstances, I do now love that photo. Yes, it is bittersweet, but it doesn’t just make me think of the worst.

When I see it I also remember the consultant’s face as he told me, and I knew how much he cared. I remember the hug that our specialist nurse gave me as she wished she could do more to make things better. I remember the nurses on the ward not just giving Pudding his treatment, but loving him with all their hearts. I remember being so grateful that my mum was with us on that (as I thought) routine visit. I remember the beauty of the moors as we headed back home along the hated M62 in sunshine.

One photo. So many different ways of seeing it.

In fact, I actually find it hard now to truly remember my feelings from those first few months. Not that I have exactly welcomed MPS into our lives. But I do think I’ve come to much more of an understanding with it. An acceptance that what will be will be.

A lot of the reason I’m free to see things differently at the moment is the wonderful long break we’ve had from hospital. Leaving the clinical trial he was on was difficult certainly, but it has meant that normal life is more ‘normal’ – no more clinical visits, no more psychology tests where I’m hit again and again with the reality of what he can’t do. No more M62!

Pudding’s health continues to be mostly ok for the moment and he’s a lot easier to deal with, being so much quieter than he was. Whilst I know the things that are still to come for us, it’s like we’re in the golden days. The eye of the storm. And I’m liking it here.

I used to hate all those motivational/inspirational memes (still do actually). You know the sort of thing: ‘Special children are only given to special people’ or ‘What doesn’t break you, only makes you stronger’. But I guess one that does ring a bit more true for me now is ‘Whilst you can’t change what happens to you, you can change how you react to it’. Not that I’ve really made any attempt to change. Perhaps it’s more accurate to say that I have been changed.

The next stages in Pudding’s condition may come quicker than I think, or we may still have months or years to make the most of. Who knows, I may see things differently again tomorrow! But until then, I accept.

Time

Yesterday nearly passed me by. Five years since Pudding’s diagnosis of MPS Hunter Syndrome. Five years of knowing that we will lose our gorgeous boy before he turns 20. Five years since I gave up hope of being told it was all just a silly mistake. Five years of this roller coaster of treatments and hope and despair.

In the last few weeks I’ve noticed that Pudding has started getting darker hair on the corners of his lips. A reminder that time is passing and even though his brain is declining his body is still getting older.

But don’t cry for us. Not for long anyway. Because I have a secret.

I can stop time.

All I have to do is snuggle in close and let his head rest on my shoulder. Lean in to him and breathe in his hair. Breathe in the warmth and marmite and banana. Feel his hand grab mine to fiddle with. Drink in all the love and content that flows from him in buckets.

And time…pauses. Nothing else matters.

Fear

Fear. It creeps up on you, doesn’t it?

The whole situation with coronavirus has been a perfect breeding ground really.

I’ve written before about how my anxiety levels seem just naturally higher these days. It started when becoming a stay at home mum: my horizons narrowed and I was no longer pushed to do things that I found stressful. A few years later Pudding’s diagnosis came and things suddenly became that much more limited and worrisome.

And then a worldwide pandemic. Boom! Horizons reduced even further. We’ve been lucky: our home and garden have been very much a safe space for us. With the exception of sporadic trips out for exercise we’ve pretty much stayed put. Yet now shielding advice has been changing and I’ve known for a while that I’d need to venture out into the world again.

Scary.

Logically I know that the risk of me catching anything on a quick trip to the shops is minimal. I can tell myself that till I’m blue in the face. But of course brains don’t always work like that. Logic doesn’t always win over fear.

Last week I beat that fear in a small way. I stepped inside a building other than my house for the first time since the 21st March. It was only taking a parcel to the post office and I’d already paid the postage online. There was one other customer in the shop and it actually wasn’t at all scary.

We will definitely not be going wild and having a family trip to the pub anytime soon, but it felt like a positive step taken.

And then, this weekend the fear bubbled up again. Or should I call it anxiety? Sometimes I know exactly what has triggered it: an argument on social media, a TV programme I’ve watched that has touched a nerve. Sometimes it takes me a while to pinpoint what the cause was.

This time it was a letter received from the government on Friday – a letter that said Pudding is still considered to be in the ‘clinically extremely vulnerable’ group and should remain shielding until August.

cuddle

I know that those letters aren’t always accurate (see below for the explanation) and I know that his consultant was happy for us to start easing into normal life a little more. But I’m obviously well conditioned to respond to authority, despite my reservations about the current government, and that letter tickles all those ‘but what if…?’ nerves.

Logic taking another little holiday.

Well, the weather this weekend hasn’t been very conducive to getting out anywhere anyway. So I have been doing the next best thing – plenty of cuddles with Pudding. Very much like a therapy pet, it is impossible to stay stressed for too long with that soft, warm snuggly body pressed into you.

Fairly difficult to breathe too when he’s lying on top of you, but I’ll take that side effect any day!

 

Shielding letters: at the start of lockdown consultants helped identify groups of patients that could be most vulnerable to the effects of Covid19. All diseases/conditions are described by a code – a bit like the Dewey Decimal system for books. So Pudding’s condition would come under Inherited metabolic conditions, then lysosomal storage condition, then mucopolysaccharidosis, then MPS II Hunter Syndrome. (Don’t quote me on this by the way – I’m not sure of the exact breakdowns, but using this just as an example.) But when the NHS database was accessed in order to send out these letters the data was not able to be broken down in such detail. Therefore, rather than sending out letters to patients with Hunter Syndrome who also have particular risk due to airway issues, a much wider group of patients were targeted. If you have a shielding letter but are not certain whether it should apply to you or vice versa, I’d recommend talking to your consultant to get more individual advice.