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.

 

Can I love MPS?

The other day I watched my eldest, T, shooting zombies on a computer game and telling me enthusiastically about the gun he’d just got (ON THE GAME!) and how machine guns were the BEST. I sighed and wondered why with all the amazing toys and books we have around, it is simulated violence that wins out.

And then I had a bit of an epiphany.

His brother, Pudding, may laugh at cartoon violence but he will never get involved in blood-thirsty shoot-outs.

I read a lot of blogs about other disabilities and one of the discussions that I find both fascinating and thought-provoking is differing views of autism. Parents of children with autism often struggle to adjust to this different world and use strongly emotive language about it. Whereas adults with autism will point out that autism is a part of them and to say you hate autism is to say you hate them.

That discussion has often made me think about how I refer to MPS – I’ve frequently said I hate it and wonder what adults with the same condition would say about this. The trouble is, I guess, that when I write I often use MPS as short hand for ‘Mucopolysaccharidosis Type II (Hunter Syndrome) – the severe version’. It’s just simpler to write. And whilst there are adults with other types of MPS or the attenuated (milder) end of Hunter Syndrome, there are NO adults still living with severe Hunter Syndrome for me to ask.

If my son was diagnosed with cancer or caught a life-threatening illness, that would be less complicated – I could rail against that to my heart’s content. But MPS? Without MPS he would be a completely different boy. How can I hate something that is a part of him? And yet, how can I not hate something that will take him from me before he becomes an adult?

And yet, and yet, and yet. There are bonuses to having my boy with MPS. The lack of interest in violent computer games is just one of many.

He may never tell me he loves me but he will also never scream ‘I hate you!’ in the heat of an argument.

Pudding aged 3He may not ever find ‘the one’ special person in his life. But to him, everyone is special.

He will never get drunk and fall in through the door at 2am.

He may not join in nursery rhymes but he will also never disturb the whole street by playing thumpingly loud music.

He will never judge anyone based on their race, religion, gender or any other construct of society.

He will always need help with things but will never look at me with contempt because I can’t manage the settings on my phone.

He will never demand the latest toy craze because ‘everyone else has one’.

His uncomplicated joy in life is contagious.

And he may attract stares sometimes but he will also continue to bring many wonderful people into our lives.

There will always be the health aspects of MPS that I rail against and if I had a magic wand I would cure him in an instant. But there are things that I can celebrate about MPS as well. My emotions and thoughts around this topic will probably yo-yo though the months and years depending on what is happening around us. (I think another blog post is forming in my head about separating out the different aspects of health/disabilities and what it is that actually bothers me.)

But the one thing that will never change is that Pudding is my gorgeous boy and I love him with all my heart.

Micklegate Madness

Despite appearances to the contrary (after all I love acting, and share a fair amount of my life on here) I’m not actually very keen on standing out. I’m more of a keep-quiet, blend-into-the-background, kinda gal.

Pudding however, has a habit of turning things upside-down. And I’m not just talking about the kitchen bin here. He challenges me to change my life too. Four months after his diagnosis I shaved off all my hair to raise money for the MPS Society. The response was brilliant and the final total was over £3000.

Three years on and I’ve seen many people taking the effort to do fantastic fundraisers. I’ve toyed with various ideas and I’ve felt bad that I’ve not got round to making any a reality. Part of it, I know, is down to struggling with my own demons. That’s about to change but it’s not down to me.

pudletA couple of months ago I got a message with a proposal (no, not that sort!). I’ve written before about how much the support of friends means to me, and one lady has featured in a previous blog when Pudding was invited to her daughter’s party. Her message suggested the frankly quite stupid idea of driving an engine-less soapbox cart down a steep hill and wanted to know if I’d like to be part of the team and raise money for MPS. Once I had established that I wasn’t expected to step foot in said cart and just had to help push, I of course had to reply a resounding ‘Yes!’

Don’t worry – the cart has brakes and is part of an organised event, so I’m fairly confident that my friend will still have all her limbs by the end of the day. The Micklegate Soapbox Run has been held on August bank holiday the last two years and is already a brilliant local fixture. Some other lovely ladies have been persuaded/bullied into joining our team, the cart is looking great and Danny’s Daring Damsels will soon be flying down that hill.

But now of course, I have to do the bit that I find difficult – to ask whether anyone fancies sponsoring us! The link is on justgiving, so it’s dead easy and I will love you forever. So will Pudding. Though to be fair, he loves everyone anyway…

Don’t forget, if you’re in York on the day you can come and cheer us on!

(And before anyone else says it: I know ‘dame’ would probably describe me more accurately than damsel, but it didn’t sound as good, so there!)

Facade of fortitude

In my last post I was really pleased to be able to share a documentary that featured Pudding and me. And even happier that it’s been shared and viewed by so many people. I’ve always said that the more times his lovely face is seen, the more chance there is that someone somewhere will recognise MPS the next time they see it.

What I have more issues with though is the comments that follow. Nobody has said anything horrid – quite the opposite in fact. I’ve written about this before. Strong. Brave. Amazing. Inspiring. All lovely things to say – but it doesn’t really feel like they describe me. In fact it makes me feel like a bit of a fraud. I can think of a few words that describe me better – grumpy, lazy, unreasonable, demanding, to name but a few!

Joking aside, just like anyone I’m a mixture of positive and negative aspects. Just an ordinary person trying to cope with this frankly sometimes shitty hand of cards that I’ve been dealt. You would all do the same. You really would.

Whilst I feel like I’m nothing special there are others in the MPS community who I think are. They are dealing with the same horrible diagnosis but with an extra helping of difficulty: money troubles; single parenthood or a troubled relationship; no family support; two or more children with the same condition. They are the amazing ones.

Maybe I have the words to express our story better than others but again I’m not special there either. I haven’t really written about the blogging event I went to last week (apart from just a smidgeon of gushing about the lovely Gethin Jones). But it was a brilliant evening celebrating the writing of many better people than me. It also served as a reminder that while Pudding’s condition is life-limiting, it is not at present life threatening. Two very lovely ladies stood out for me – Little Mama Murphy (writing about her profoundly disabled son), and Living with Lennon (Lennon sadly died in August last year). Both their awards were very well-deserved. They too are the amazing ones.

I’m ok with not being amazing. There will always be the times where I feel like a fraud or know I’m acting strong despite all the fear and anxiety churning along underneath ready to drown me. But for me, it’s enough to be enough. As long as I have the love and support around me that helps me to keep going. As long as I can make my gorgeous Pudding break out into irrepressible giggles. As long as I can feed my family and juggle those appointments. And as long as I remember to allow myself the occasional wobble without losing myself completely, then that’s fine with me.

Pudding in front of some greenery. He looks a little pensive or worried.Perhaps I should change the tag-line of my blog – Facing the future with a facade of fortitude…?!

Interview with an MPS sibling

Most people will know that #MyMPSHero is a chubby little boy with a big smile and an impressive head of curls. But of course there are many heroes in my MPS world and today I’m handing over to one of them. MPS siblings put up with a lot and my biggest boy, T, is no exception to that. We’ve always tried to be open and honest with him about Pudding’s condition but sometimes I do wonder what he makes of it all. T agreed to be interviewed by me for this blog post and I’ll leave his words to speak for him:

Boy wearing #MPSday t-shirt with a blue paper bow-tie and moustacheHow would you explain Mucopolysaccharidosis to someone who has never heard of it?

It’s a disease that not many people get so it’s very rare. It makes lots of the parts of your body not work very well.

How does it affect your brother?

It’s stopped him from talking and he doesn’t really understand very much of what we’re saying. He never actually goes by rules of games because he doesn’t understand. I don’t like thinking about the bad bits because it’s too upsetting.

What’s the best thing about living with Pudding?

Cos of MPS that’s made him look really cute, so that’s nice. He also gives really good cuddles and kisses.

And what’s the worst thing?

That’s easy to say – he always hits us and throws books at us. Other things as well as books.

What is he good at?

He’s good at throwing things! And as I already said he’s good at doing cuddles and kisses. He’s also really good at football.

What do you think he’ll be like in the future?

I don’t really know. I’ve got an idea that some time there might be an antidote to MPS. But I don’t want it to stop him being cute though.

Do you have any advice to give other children who have a brother or sister like Pudding?

You’d better get good at dodging things. But try not to get angry when they do throw things because then that encourages them to do it again.

I know you didn’t like it when he moved away from the school you go to. Why was that?

I liked him being at school because he would roam around a lot, and sometimes he would come and invade our classroom and give me a cuddle. But I’ve got used to him not being there now.

Can you imagine what it would be like to have a brother more like you?

Yup.

Do you think you’d prefer that?

Not really, because I like Pudding. He’s cute.

So do you think he’s the best brother you could possibly have? (incredibly leading question from the interviewer!)

Yes!!

Photos

I love looking through baby photos, don’t you?

Those sweet little expressions they used to pull, the chubby cheeks, the memories they bring back…

And there’s the rub. Because the memories can be bitter sweet.

Whilst I enjoy Facebook’s On This Day feature – laughing at the funny things T used to say, or reminders of days out we enjoyed – sometimes it punches me with what could have been.

I might see a photo of the panto we went to a few years ago and realise that Pudding never says anything as clearly now as when he asked ‘Where de moo?’

A photo will come up of a hospital bed, and I’ll be transported right back to those terrible first few months where the only thing that seemed real was the knowledge that I couldn’t escape this nightmare.

Pudding aged 3Sometimes though the hardest photos of all are those from before diagnosis. When I had never heard the initials MPS. Photos from more innocent days. I look at his so-obviously-Hunters face and think ‘How could I not have known? Why didn’t I fight harder to get his delays looked into? Why did I let the professionals’ dismissals over-ride my concerns over the way he looked and acted? How could I have missed what is so obvious to me now?’

Pudding aged 2

But of course I couldn’t have known. I’d never seen a boy with Hunter Syndrome before. I didn’t know what that baby face with its broad nose and big forehead meant. I didn’t know what all the niggling little symptoms added up to. How could I have done? That’s the problem with rare diseases like mucopolysaccharidosis. You rarely see them.

And that’s why I keep on blogging and sharing pictures of Pudding. In the hope that one day, somebody somewhere will recognise these features in their own child and press for a diagnosis.

I can’t stop them feeling all that pain, but hopefully in the future they won’t be the one looking at happy memories and wondering why they didn’t know.

The Good, The Bad, and The Ugly

Finally getting round to explaining what set off my last rant about MPS. Of course, I always hate MPS (who wouldn’t when your child has been diagnosed with a life-limiting illness?), but I found last week’s hospital trip particularly hard.

So here it is – the good, the bad, and the ugly. Though as I always prefer to end on a positive note if I can, it’s actually the ugly, the bad and the good!

The Ugly

As you may have read before, the clinical trial Pudding is on had disappointing first year results. Before the boys received their doses this time, our consultant (who also runs this phase of the trial in the UK) gathered us parents together to explain what he has heard, and answer any of our questions. He wasn’t able to give us too much information as the full results are embargoed until February when they will be announced at a conference. But what he could tell us was that he was more heartened by the results than he had expected.

The reason I’m still calling it the Ugly is that analysing data for such a small group is …well… complicated. Without going into a whole essay about the mechanics of designing clinical trials (I find it fascinating, but you probably wouldn’t!) one year of data is just not enough to show clear benefits. So their next step is possibly to include data from other studies done previously which show the normal course of decline in MPSII. Not a straightforward process, but there is potential.

Of course, there will still be the issue of getting agreement from NICE and NHS England to fund it if the drug is approved. But I’m trying to hold onto something our doctor also said about the many battles he has had to fight in his clinical career. ‘I’ve realised that the only way I can get through, is by dealing with them one step at a time.’

The Bad

This is the one that knocked me for six. After a bad night’s sleep on the ward (Pudding was still climbing out of bed and switching the lights on and off until nearly 11pm) and the morning’s discussion on trial issues, I had another talk with the consultant. He told me that Pudding has developed antibodies to the enzyme infusion that he receives every week.

Pudding on a see-saw in a bright red ladybird-design coat.

Again without going into all the details (lesson on cell biology, anyone?), the basics are that all sorts of different antibodies circulate in the blood. The ones that we really don’t want to see are neutralising antibodies which stop the enzyme being taken up into the cells to do their job. And yes, those are the ones that Pudding has.

These results are actually a year old, so there is a possibility that more recent results will show that the antibodies have gone down again. It’s unlikely though, as there have been a few other reasons to think that the enzyme is just not working as well as it should be for him. Of course, without the enzyme clearing away as many of the waste sugars, they will be building up again, and potentially causing new damage to his organs, joints and so on. So…next stage will be to think about ways to get round it. This will probably mean some form of immune suppression drugs.

The news wasn’t entirely unexpected. Some boys with this condition have a small ‘spelling mistake’ on the DNA, meaning that their body produces a faulty version of the enzyme or just not enough of it. Pudding, however, has a full gene deletion. So the synthetic enzyme he gets is completely foreign to his body, and hence…antibodies.

In the grand scheme of things it’s not the worst news in the world. But it certainly wasn’t what I wanted to hear.

The Good

Yes, that’s it from the depressing side! Yay!

Even in the depths of this horrible MPS world, the silver lining is always the other people that support us along the way. Our lovely doctor, who cares so much for each and every one of his patients and hates giving us bad news. The nurses and play specialist who look after Pudding so I can off by myself for a cry. And of course, my fabulous, wonderful MPS family. This hospital visit was the first time in ages that all four boys on this phase were treated on the same day, so I could have a chat with the other parents.

When I got our bad news, one of them gave me a massive hug with a tear in his eye. Hugs that come from someone who truly understands what you’re going through are the absolute best. They can never make things completely better, but it’s a bloody good substitute!

 

PS. We do have another bit of good news that I’ve heard this week, but I won’t write about it until we’ve got the official letter!

Hatred

T, Niece or Nephew sometimes say things to me like ‘I hate broccoli’ or ‘I hate doing science’ and I’ve always told them that hate is a very strong word. That maybe we can think of a better way of describing how we feel about something.

But I can say truthfully and unequivocally, I hate, HATE, hate MPS.

I hate that mucopolysaccharidosis is a word that now rolls off my tongue easily when most people have never heard of it.

I hate that people I know are having to make heartbreaking decisions.

I hate that I have to watch my son take medicines and needles and recover from anesthetic with no idea why he’s being put through all this.

I hate that children are dying.

I hate that I’m too tired and miserable today to even try on some clothes that I’ve just had delivered.

I hate that I see other little boys with nasal cannulas and g-tubes.

I hate that every time you think things are looking up there is another barrier to face.

Pudding watching TV in the hospital playroomI hate that the few other families who know and understand this MPS life are spread all over the world and often out of reach.

I hate that I have to understand terms like ‘neutralising antibodies’, ‘urinary GAGs’ and ‘hypertrophic cardiomyopathy’.

I hate that this bloody disease punches you and punches you and punches you again.

And I hate that I can’t make this any better for my little boy.

 

Sometimes the word hate simply isn’t strong enough.

Cliff-edge

I wrote recently about feeling lucky, and that’s still the case. But of course, life is more complicated than that. The truth is that right now we’re walking on a fairly even path. The sun is shining, we’re having a fun outing as a family and we’re enjoying the view. But somewhere up ahead of us is a cliff-edge.

We don’t know when we’re going to get to it, though we know it’s close. We can’t change direction to avoid it. We have no choice but to keep on walking forward and just hope that we don’t fall headlong down into the chasm below.

Sorry, that analogy went on longer than I expected. Yes, I’m talking about Pudding’s clinical trial.

I think it’s getting pretty clear to anyone who knows Pudding that he is still gaining skills, whereas boys with Hunter Syndrome really shouldn’t be at this age. Yesterday I watched a video from school of him taking part in a relay race. I just couldn’t believe that it was my little boy running to a classmate, handing over the beanbag and then waiting patiently for his next turn. Yes, of course he still needed support, but the understanding and concentration he was demonstrating were… Well, we were all amazed and T begged to see it again and again. So, from our point of view, the trial that is putting enzyme into Pudding’s brain has to be making a difference.

But what is the cliff-edge?

Around this time in 2016, the final boys were recruited onto the clinical trial which officially runs for one year. (Pudding is currently on the extension study where he still gets the enzyme, but we don’t have quite as much testing.) The pharmaceutical company will therefore have all the data they need to look at the numbers and see whether it is a treatment option that is worth pursuing.

At that point they could just decide to cut and run. That is the first stumbling block but I don’t actually think it’s likely. Some boys have been on this intrathecal enzyme for years now, and are continuing to gain skills. Some trials (including for MPSIII drugs) get pulled part-way through the clinical period due to interim results. But that has not happened with this one which makes me think that the figures so far are promising enough.

The next step is for the drugs company to apply to the FDA and EMA (the bodies overseeing medicines in USA and Europe) for approval. This is a complicated process, could take months and even if the drugs company think they have good evidence, could still result in a ‘no’.

And then, and then…. the NHS would have to decide whether to fund the treatment. That’s the one I’m most scared about.

As ever, it’s the not-knowing that I find hardest to deal with. Not knowing how long we have to wait until we find out. Not knowing what the answers will be. The analysing and second-guessing can drive you crazy.

I don’t think I can deal with thinking about it much. So I’m doing what I can to stay relatively sane. Until we reach that cliff-edge and are teetering on the brink I’m going to keep on walking, ignore the inevitable and enjoy the day while we can.

And I will continue to remind myself that we are indeed still lucky. Other families are much nearer that cliff-edge than us. While decisions are being made, Pudding’s treatments will probably continue to be offered by the pharmaceutical company. Boys who didn’t make it onto the trial still have nothing.

A letter to our doctor

We usually meet in a clinic situation of course. Whilst I and the nurses don’t treat you with the proper respect and joke about all the time you spend away from the hospital playing golf (which you don’t) there is always a professional boundary. A line which I don’t feel I can step over.

At the MPS conference though I took the chance to give you a hug and tell you how much I thought of you. You laughed it off with a comment about being emotionally unavailable. You may also have thought I was a little bit tipsy. (I suppose I was, but I’d only had one glass – just enough to loosen my tongue.)

I’ve written about the wonderful nurses before and how they kept me going. But at a time when some pediatric doctors’ expertise and integrity has been called into question by sections of the media, I think it’s important you know what you yourself mean to our family, and I’m sure many others.

Just over two years ago, on Wednesday the 1st July 2015, we were told that our youngest son has MPS II, a progressive, life-limiting condition. These are the words that no parent wants to hear. Ever. We had been called in to see our local pediatrician who confirmed the diagnosis we had been expecting. And he told us that an appointment had been arranged for us to see the experts in Manchester the following Monday.

You’re probably used to shell-shocked parents arriving in your office, but to us of course it was all new. And yet… Having heard the worst already (at least I thought we had) it was reassuring to be there amongst people who knew all about this terrible diagnosis.

Infusion pump in sharp focus with Pudding on hospital bed behind.I’d already read everything the internet had to offer on Hunter Syndrome, or so it seemed. But you were so patient explaining it all again to Hubby and taking us through the next steps, telling us about the enzyme replacement treatment Pudding could start the next week. I’ve no idea how long we were in that office – over an hour I think – but I never felt that you were rushing us.

Over the next few weeks you often popped in when Pudding was having his ERT to see how we were doing and answer my questions. I had a lot, and you never shied from giving me the difficult answers. It was often hard to hear, but I needed and appreciated your honesty.

You joke about the nurses calling you emotionally unavailable but I think we all know that is far from the truth. When you had to tell me that Pudding’s DNA results showed a complete gene deletion (meaning inevitable progression of Hunter Syndrome) I could see how deeply you cared about us all.  Later when we talked about the fight that MPS IV patients had (and will face again) for a treatment to be made available, your anger at the situation was clear.

I have entrusted my son’s life to many people already – anesthetists, surgeons, pharmacists, even down to those who safely access either of his ports – but you are the expert at the heart of all these services. A kind, caring, down-to-earth, approachable expert that I am very grateful to rely on.

All our love,

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