This is it

It is done.

I have sent the email setting in stone my son’s future. We have withdrawn Pudding from the clinical trial that he has been on.

I’ve said before that it was a horrible decision, but the answers were partly in my heart anyway. As I’ve watched Pudding lose skills over the past few years, despite being on a treatment that has the potential to save boys with Hunter Syndrome, I had come closer to accepting that we would lose him. But it still felt wrong to actually articulate it, to say that this is what was going to happen. As if by articulating it I’d have given up on him.

While we’ve been talking it through, I have wondered if selfishness was creeping in. That I’d be relieved to have less trips to Manchester and less stress over hospital procedures. That I’d be making this decision for the wrong reasons.

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But when it’s come down to it, Pudding himself has made that decision for us. I asked myself what he would want. He lives in the moment. He likes football and TV and food and going his own way. He doesn’t like needles. He doesn’t like feeling sick from anaesthetic. He doesn’t like being kept on a bed for infusions. He doesn’t understand why he feels so rotten if he gets ill.

He wants to run and enjoy life. And we want him to have that while he can.

At the moment he is still so ridiculously healthy, and all that could change in an instant if we wipe out his immune system. He has lost so much already and I don’t think we could take that away from him.

For now we are going to keep on with his weekly enzyme replacement therapy just in case there is still even the slightest hope that it is doing something to keep him more comfortable. It feels a little less stark than stopping everything at once.

We have sat with these thoughts for a while now, and it feels as right as it can do. It helped that we had a visit to Martin House Hospice at the weekend, a chance to talk with other parents and healthcare professionals away from all the normal household routines. And it has helped having messages from so many of you telling us that whatever we do will be right. Maybe that’s the benefit of blogging about all this – our support network is much bigger than I might otherwise have expected.

We’re under no illusions what our decision means. We will lose our beautiful boy to Hunter Syndrome. But not yet.

Decisions

This is a decision no parent should have to make.

This is a decision that I always knew we might face sometime in the future. But not yet. Not when Pudding is only seven and a half years old.

I knew it wasn’t going to be an easy meeting in Manchester last week. Not when the consultant asked to see both Hubby and I. That’s obviously not a routine appointment; it’s decision time.

Essentially, the treatment we tried in June to reduce the antibodies Pudding has towards his treatment has not made any difference. The stronger a body’s reaction to the treatment and the longer one has antibodies for, the harder they are to get rid of. Pudding has a complete gene deletion, so the enzyme is completely foreign to his body. And he has had antibodies since at least February 2017, probably longer. So there’s a double whammy.

Some families in America that I know of have, even with a complete gene deletion, successfully eliminated antibodies. So I have of course been reading up and learning as much as I can about the options out there. It seems to boil down to a long course of more toxic drugs or daily/twice-daily infusions. Both of which could potentially be for years. Or for ever.

The problem is, as always when talking about rare disease, that the numbers are small. I can’t look at the figures and say 100 people tried this and 75% were successful. We’re talking ones and twos.

Pudding sitting on the floor by hospital ward doors.Pudding has already been on a clinical trial for three and a half years. It seemed like the right decision at the time to put him through more medical interventions even though there were no guarantees. Given the hope that it offered, it was worth the time and the risks.

Of course it hasn’t turned out to be an entirely positive experience for us as we have watched him gradually lose skills, known about these antibodies since last year and yet been unable to treat them.

And now…

We have to decide whether to put him through more. Or to say enough is enough. Quality over quantity. More treatment over living life as it is now. Knowing that the choice of doing nothing will mean accepting the inevitable course of Hunter Syndrome – decline and death.

To be honest, it’s a pretty shit choice.

There are so many factors to consider – risks, benefits, side effects, damage already done, family life. My head is spinning with information and every night when I go to bed I realise quite how tense my body is. I just don’t know how to make a decision like this. How to know we’re doing the right thing. None of the options feel like the right thing. Whatever we choose there will be somebody who says, ‘You chose wrong.’

And the thing I am most scared of, is that it will be me saying that.

 

Control

I’ve not written a ‘proper’ blog post in ages, and it’s not for lack of stuff to write: I’ve started this particular post a number of times but it never quite comes out how I want. When I started this blog in 2015 soon after Pudding was diagnosed, the words poured out of me. All the fear and guilt and anger and devastation just had to make it onto the screen in any which way. I barely even had to think about what I was writing, whereas now…things feel more complicated.

This year so far has been one of contrasts. After a very stressful first few months we had a great summer, and I think it can be summed up with one word. Control.

I remember reading an article many moons ago about stressful jobs. It may seem counter-intuitive, but it was saying that the most stressful work wasn’t what you might think. It wasn’t necessarily those in high-powered careers who suffered the most, but those people who had the least control over their work environment. The people who have to react to what’s thrown at them with little or no control over their situation.

Over the last few months I’ve come to realise that this what many of us go through when parenting a disabled child. Before anyone gets upset with me, I don’t mean it’s the child themselves that is the problem. It’s all the other things that impact on our lives  – the lack of accessibility, the fight for support, the forms, the waiting for school places and the never knowing what the future will bring. The control that politicians, budget-holders, pharmaceutical companies have over our children’s lives. That knowledge that your precious wonderful unique child is, to them, a figure in a spreadsheet or just another service user.

When I was writing one of my updates on Facebook recently (come find us here if you haven’t already!) I used the word trauma and then wondered if I was being guilty of over-exaggerating. But actually I don’t think I was – consistent lack of control over your situation IS traumatic.

I never know much about what Pudding is thinking, but it’s pretty clear that the same is true for him. When he can decide where he’s going, or what he does – when he is in control – he is happy.

OLYMPUS DIGITAL CAMERAFor us, the main issue has been Pudding’s health. Not his health now (anyone who sees our photos and videos knows that despite his life-limiting diagnosis he still remains ridiculously healthy) but what is to come. We’ve known since February last year that his body was producing antibodies against the enzyme replacement treatment. Yes, antibodies against that very treatment that is meant to be keeping him alive.

We had to make a difficult decision about whether to go ahead with immune modulation drugs which could result in side effects or increased risk of serious infections. There were also other considerations that had a huge bearing on our decision that I still don’t feel able to talk about. All I can say is that it was a time of agonising changes of mind. How to make important choices on not much information? How to keep going when other people hold all the cards? How to know that we’re doing the right thing when any impact could take years to show what the true benefits have been?

In June we went ahead with the immune treatment – four visits to Manchester over two weeks (four injections and two infusions). Pudding was of course a star, taking even more medical interventions in his stride despite not liking them. Then the waiting started.

The summer has been almost a honeymoon period. With plenty of respite in place for Pudding allowing us to concentrate on fun things with T, and with hope that Pudding’s future was a bit more assured, I felt like I was back in control.

But that assurance is starting to wobble again. Latest results from blood and urine tests have not been very positive and more decisions will be needed soon.

 

Conference 2019

Saturday was the hottest day of the year so far, and what was I doing? Rubbing away goosebumps in a conference room in Coventry…

We’ve just spent the weekend at the MPS Society Conference – a weekend of talks, coffee, cake, chatting, more cake, more talks, partying and talks. Full on and exhausting, but most definitely worthwhile.

We’ve attended events each of the last two years, so you might think that there is not much more information I need to take in. Yet there are always some useful snippets that I pick up on, something to reassure me about the next steps we’ll be facing. I won’t bore you with the many details that I scribbled down in my notebook – info about changes in the corpus callosum relating to behaviour, warning signs to look out for as swallowing function declines (oops, I just did!). We’re lucky with the health professionals we see in Manchester in that any questions I have are always answered. But sessions at conference often answer the questions that I didn’t know I had.

And as always, it’s the chance to talk to other parents and individuals with MPS that is almost more important. Chatting with others who just get it.

Unlike in previous years we didn’t take Pudding with us – the date coincided with the weekend we’d been offered respite at Martin House Hospice. It did feel a little odd being at an MPS event without him, but in a way he was very much with us still. Walking down the corridor to our room, I could picture him thundering down the very same corridor two years ago. Helping myself to juice at the breakfast buffet I heard a little voice in my head, shouting ‘Du!’. And of course, every snippet of information that I stored away was one that will inform his future.

bananaT had a super time in the children’s programme (trip to Drayton Manor, magic show, DVDs and more sweets than I could possibly approve of). But it occurred to me that maybe one of the greatest benefits to him of the weekend was the chance to be play with us and be silly, released from the responsibilities of having to be the sensible big brother  while we concentrate on Pudding. (Yes, that is him and Hubby having an inflatable banana/guitar duel.)

And last but not least, I stepped way out of my comfort zone by standing up on stage to sing a solo in the MPS talent show!

It’s strange writing this today, exactly four years on from the confirmation of Pudding’s diagnosis. Back then it would have been too overwhelming, too difficult to contemplate choosing to spend a whole weekend immersed in the MPS world. I would have sobbed my way through the first couple of talks before hiding in the loo. So much has changed in the past four years, and while not everyone will find the same path through this life, for me embracing times like this can certainly have positives.

Pudding smiling in a red ladybird jacket.

(If you’d like to see some of the highlights from the weekend, have a look at this video. You might spot me!)

Life and Death

*Trigger warning – death and loss*

I’ve never really been a big fan of New Year’s resolutions. Why try and set yourself up to fail in the most miserable dark time of the year? (Eternal optimist, me!)  But maybe this post does fall into the ‘New Year, new you’ sort of vibe, though the subject matter not so much.

When I set up this blog I promised myself and my readers that I would always be honest about what we’re going through and how I’m feeling. I didn’t think it would be fair to hide any aspect of our journey because the whole point of it is to share, so that hopefully others on the same path could recognise their own problems and feel a little less alone.

On the whole I’ve stuck with that, but there’s one area that I’ve often skirted around and avoided tackling head-on. Mostly because I was scared about how people would judge me after reading it. I’m still scared, but a conversation I had recently made me realise that I may not be the only person who has had similar thoughts on this topic.

I think about death quite a lot. You tend to when your child has been diagnosed with a life-limiting condition. (I never quite understood the family member that told another MPS parent that they ‘focus on death too much’.)

But of course death is never a simple subject to touch on. I’ve never lost anyone very close to me. Grandparents and friends, yes. But not a parent, or partner, or child. So I can only imagine the pit of grief that swallows you up after it happens. I know it can never be easy losing a loved one, whether it is fast or slow, expected or not. And I hope I will not offend anyone by what I am writing here. But it feels particularly cruel to face a long, slow decline for someone you love more than anything.

So here goes. Deep breath.

I have sometimes wished my son would die.

Not now. Not while he loves life and embraces it with such obvious relish. But if I could choose, I would choose a swift and merciful end for him rather than losing him bit by bit. And in my darker times I have wished that it was sooner rather than later, just to take away the agony of waiting for it.

One of the very first things I ever read about MPS when Pudding was diagnosed was the Wikipedia page. It refers to a case from 2004 when a father suffocated his 10-year-old son who had Hunter Syndrome. That has haunted me ever since. Never in a million years would I do something like that to my darling boy and this is not a blog post about mercy killing or euthanasia*, but I guess I understand part of why he may have done it.

Faced with the prospect of my son spending years losing the ability to talk (which he mostly has done), to walk, to swallow; thinking of him having more pain as his joints degenerate; knowing that he may be hit by seizures and by the end may not even recognise his family… there have been times where I’m certain I could not go through that. Maybe that makes me selfish, putting my wishes foremost.

Or is it? Is it selfish to hope that your loved one, whether 7 or 70, can live without pain, physical or mental, and can die with dignity? The reason we have these thoughts is because we love them. And love makes us want to end any suffering.

As with anything I write in this blog these are my own thoughts and emotions and I’m simply offloading. I may be in a tiny minority but I’m going to feel better for having said it. My thoughts may change, as so many things I’ve written about have done. Maybe as his condition worsens I’ll be more and more desperate for him to cling onto life with both hands and never let go.

Right now, as I’m writing this, Pudding is clambering onto my lap with his tablet, resting his head heavy against my cheek, his warm bulk blocking my view of the screen and making it pretty awkward to type. I simply can’t imagine him not being here.

But I will always hope for the best for him. In life and in death.

Pudding in front of some greenery. He looks a little pensive or worried.

 

*I do happen to believe that an adult in their right mind with a life-limiting condition should have the choice to die at a time of their choosing, but know that this is a topic fraught with problems and presents a number of ethical issues.

 

Speech

‘He still can’t talk!’

It was just a comment from a six-year-old outside Pudding’s school. Honest surprise that in the term since my little boy had left mainstream his speech hadn’t miraculously improved.

What that child didn’t know is that his words made me cry. It had been a pretty rubbish day for a variety of reasons so I guess his comment affected me more than it would normally.

But the hard truth is that Pudding says far less than he used to.

Speech and language therapy (SLT) was the first intervention that we had, starting when he was two years eight months, even before he was diagnosed. I had heard all the usual comments –  ‘Mine didn’t talk until he was three’, ‘He’ll probably start speaking in full sentences’ – but I knew that something wasn’t right. It wasn’t just that Pudding didn’t speak, but it was his lack of understanding too.

Early SLT sessions started working on trying to encourage two words being put together. Not just ‘More!’ but ‘More apple’ or ‘More juice’. We never got anywhere with that one!

Slowly though, his understanding of instructions improved and his vocabulary climbed to over 50 words. He even managed to work on his own sentences – in 2015 we were over the moon when he came out with ‘Where de moo?’ as the pantomime cow went backstage. Getting on the trial (which should in theory halt any deterioration in the brain) I thought that his language may continue to improve though I never hoped for any miracles.

In the last year or so I have lost that hope. Slowly, so slowly that we barely noticed, many of his words have been lost. He still chats away in his own language but recognisable words are fewer (with the exception of some random outliers – ‘Des a Bunny!’ shouted at top volume is a joy to hear).

Pudding wearing a crown of flowers and grass.

At the end of term we of course got a report from his new school and it was a lovely read. Apart from one sentence that suggested a target for him would be to use ‘Yes’ in appropriate situations. He actually did say ‘yes’ even before ‘no’ appeared (an early sign that he wasn’t an entirely normal child!) and continued to use it really well. Yet now, ‘no’ is often used for both.

He used to melt hearts with his enthusiastic ‘Dank Kyou!’ but he doesn’t say it anymore.

He used to shout ‘Duck!’ when Sarah and Duck came on TV.

I’m not even sure when I last heard ‘Mummy’.

I have come a long way with acceptance in the last year. It used to be that when I saw a young child chatting away to their Mum my heart would sink as I wished that I could have that with my Pudding. I know now that that will never happen. And the other week I was so proud of myself for feeling nothing but simple enjoyment as I overheard a conversation on the bus where a lady was answering every question under the sun from her inquisitive two-year-old. I marvelled that it didn’t hurt as it always had.

I can be content with my Pudding as he is, but I don’t want to lose any more of him. After the latest positive hearing test, I can’t stick my head in the sand and put his lack of speech down to hearing loss. It may still not be the start of the long slow Hunter Syndrome decline, but I have to face the possibility that it could be.

And that is a scary thought.

Rare Disease Day

Today it’s Rare Disease Day and the focus this year is on research. As some of you will know, rare diseases aren’t actually that rare. One in every 17 people will be affected by a rare disease at some point in their life. Every treatment that has ever been made available for any disease is as a result of medical research. Yet for those living with rare diseases (sometimes known as orphan diseases) treatments just aren’t as easily found as research is more costly when it can’t be offset against a large patient base. On the other hand, research into rare diseases is a real trailblazer and can bring about new options for other conditions too.

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Some rare diseases are wildly different to Pudding’s diagnosis of Mucopolysaccharidosis (Type II – Hunter Syndrome) and some are much closer. Today I want to tell you about Batten Disease – one very similar to MPS. You’re probably wondering why. After all, this is a blog about Hunter Syndrome and how we’re living with it on a day to day basis.

Well, there was a family on This Morning the other week, and they are living our future right now. Watch it, and you will see so many similarities with our situation: like MPS, Batten Disease is a genetic condition caused by a missing enzyme; children seem healthy at first and are often not diagnosed till around the age of 3; they slowly lose skills such as the ability to talk, walk or swallow; and parents face the agonising fate of watching their children die too early. Way too early.

Like us, this family managed to get their children onto a clinical trial and have seen the drug stabilise their loved ones and even allow a little progress. Unlike others now and in the past who have not received this treatment, these children have a chance at life. Yet NICE have now decided not to make this treatment available in the UK. And there is no way that any individual could afford a drug like this.

This could be us in a few months time.

I know people will, and do, say things like ‘The NHS doesn’t have unlimited funds’, and I understand that. I really do. (Maybe I’ll address those sort of arguments in a future blog.)

But this is the reality of Ultra-Rare Disease. Research is needed so badly, but it is a double-edged sword.

Just imagine it, if you can. Your lovely son or daughter is diagnosed with a life-limiting disorder. You deal with this devastating news however you can. Then you are given some hope – a research trial results in a treatment that is keeping children alive. Yet, because of the country you live in, your child will not continue to receive it. There is a treatment available. But not for your child.

How would you feel?

You can help them by signing a petition asking for this drug to be made available. Please do. You can also follow their journey on Facebook at ‘Ollie’s Army Battling Against Battens’.