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 We have withdrawn Pudding from the clinical trial that he has been on.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.

Circles

At this difficult time, my mind has been turning circles: reading up on options, moving towards a decision, learning more, wavering again. Yet strangely, I am finding it easier to deal with than the period just after diagnosis.

After diagnosis, when we first heard the word mucopolysaccharidosis, the bottom dropped out of our world. Learning that our little boy had a progressive, life-limiting condition left us reeling with shock, anger, grief, guilt…the lot.

You may have seen that diagram of a line showing what we think grief looks like, and then a tangled scribble saying this is what it is actually like. (Sorry, I don’t have a copy and wouldn’t know who to credit if I redrew it myself.) Well, that’s what it also feels like going through this journey. Emotions really aren’t linear. They’re complicated; overlapping and folding back in on themselves, circling round, revisiting you when you think you’re already done with that one. Ebbing and flowing. And over time, I’ve found them easier to deal with.

So even though we’re making this life and death decision for Pudding, it is with four years of experience behind us and without that paralysing shock punching into me every morning when I wake up unawares.

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My brain is full of ‘what if’s and consequences but I can still laugh with my friends and have funny conversations with T on the school run. Seemingly simple tasks like booking a taxi are sending my underlying anxiety into stomach-churning levels, but yet I still managed to sort out my hoe insurance ten days before the deadline. I may find it hard to concentrate on planning meals, but can still enjoy eating. I need a hot water bottle at night to ease those tense muscles, but my mind has mostly let me sleep.

The world keeps on turning and another aspect of my life has circled round to bring home how far I have come. I’m rehearsing for a play at the moment, and it’s being directed by the same person as the play I was in at diagnosis time. I have always loved acting – the chance to step away from real life and be someone else – but back then it was tough. Everyone was very supportive and there were numerous times when I had to leave the rehearsal room to go and cry by myself. But now? Well the play is pretty challenging, dealing with family relationships, love and loss and I am finding it quite cathartic in a way – I may not be able to shout and scream at MPS in real life, but I can channel that into my character.  And though they may know I have a disabled son, I doubt most of the cast have any idea of what we’re currently facing and that’s the way I’m happy for it to be. I would do anything for my Pudding, but I also need to be just me sometimes. An ordinary person doing ordinary things.

And as for the future…? We have probably made our decision, but we’re sitting with it for a while, to check that it feels right. All your messages of support and love for Pudding really has helped, so thank you.

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!)

MPS Parents

Today is MPS awareness day – the fourth I’ve marked since Pudding was diagnosed with Hunter Syndrome in July 2015. Whilst I have come to more acceptance of the condition, I can never ‘celebrate’ it.

But what I can celebrate are the other wonderful parents that I have met because of MPS:

The parents who spend weeks in isolation with their child through a bone marrow transplant.

The parents who travel across the country to sit for hours by hospital beds.

The parents who want to be there for procedures but can’t leave work.

The parents who have to stay strong so they don’t crumble in front of their kids.

The parents who can no longer physically manage caring duties 24/7 and have to welcome strangers into their house.

The parents who have no option but to soldier on with no help whatsoever.

The parents who encourage their kids to achieve whatever they can.

The parents who have to make decision after difficult decision.

The parents who learn to take on the role of nurse as well, accessing portacaths to administer treatment.

The parents who hold down a screaming child for yet another needle.

The parents who fundraise and push for new treatments.

The parents who are reeling in shock at one child’s diagnosis and are then told that their baby may have it too.

The parents who step into the unknown on clinical trials knowing that it might not even help their child, but may pave the way for the future.

The parents who have had to give up hope of seeing a treatment in their child’s lifetime.

The parents who dreamed of planning university and weddings and instead plan their child’s funeral.

The parents who are watching their child slip away bit by bit.

The parents who have already lost their child.

The parents who wish they had never heard those three little syllables, M. P. S.

The parents who are convinced that they are broken, that they cannot fight any more. And those same parents who carry on regardless, day after day, because that’s what parents do.

The parents who will love their child, for ever and for always.

You are all amazing. You are all stars. I wish I could send you all chocolate and flowers but virtual ones will have to do…

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Aware?

May 15th – MPS Awareness Day

I did intend to plan something this year. Something to raise money and get noticed. Make some noise and increase people’s awareness of mucopolysaccharidosis. It’s not really in my nature to draw attention to myself, even so I felt it was something that I should do.

But I haven’t planned anything at all.

To be honest, the last couple of months I’ve wanted to stick my head in the sand and pretend that MPS just doesn’t exist. But of course, my son doesn’t have that luxury. The effects that MPS has had on his brain stop him from knowing what it is doing to him. But I am very aware.

I am aware that his breathing is louder than it was, and he needs to rest more often again.

I am aware that many of his hard-won skills, such as pointing to head, toes or eyes, have faded away.

I am aware that he hasn’t grown in the last six months and is now on the 9th centile for his age (up until he was four he was on or above the 75th centile).

I am aware that he has lost most of the words that he was using.

I am aware that the treatments that should be stopping all this from happening are prevented from doing so by his own amazing immune system.

And most of all I’m aware of what all that MEANS. It means that unless something else can be done we are watching our vital, happy little boy die very slowly in front of our eyes.

Since we moved to our new house six months ago, the practicalities of our situation have been a lot easier to deal with, but emotionally the reality of MPS does hit me hard at times. So although I haven’t planned any awareness events, what I can do – what I have always done – is write.

I write about our experience so that others can learn about MPS; so newly diagnosed families can feel a little less alone. I write to save my sanity and hope that I spread awareness that way.

All the current research points to the fact that the earlier MPS is diagnosed the better; the few existing treatments (and new ones coming through) are much more effective early on while the body is still developing and before too much damage is done. So, please, for Pudding’s sake this MPS Awareness Day wear blue, share a post or two, donate if you can, and spread the word.

I’ll be wearing my blue wig and MPS T-shirt all day, and spreading awareness where I can. Who’ll be joining me?

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