Pudding peering around a tree with a huge cheeky grin.

Rest in Preparation

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

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

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

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

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

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

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

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

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

Pudding peering around a tree with a huge cheeky grin.

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

Lobsters

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

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

It was all so very unreal at first.

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

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

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

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

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

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

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

How long?

How long do we have?

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

How long do we have?

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

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

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

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

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

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

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

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

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

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

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.

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.

Trapped

We can’t go anywhere or do anything that I want to. You can forget about lazy foreign holidays or trips around historical sites. Life will just carry on around us and we’re stuck. Stuck in a rut that will only end in the worst way.

No I’m not talking about Covid-19, but my state of mind a few weeks ago. Although I do bumble along quite happily most of the time, the lows are still there and seem to hit harder sometimes simply because they take me by surprise.

This time, although I knew I was feeling miserable, I just couldn’t see that I was being unreasonably so. I was in a hole and couldn’t see my way out and when that happens logic flies away and it’s impossible to reach out for help. What’s the point? Nobody can help. Nobody cares. 

I was worrying about some aspects of Pudding’s care, but not sharing concerns with Hubby – he’s got to keep working to support us and doesn’t need more pressure on him – and at the same time resenting him for not knowing. And I was losing sleep over little things that I had no control over.

Like I said, logic doesn’t hold much sway.

So what snapped me out of it? A blogger friend of mine, Gemma from Isla’s Voice checked in on me as she often does. Just a simple message asking how I was doing. Maybe it just came at the right time to find a way through my barriers, but I found myself letting some of it out and sobbing as I wrote back to her. That night I was still holding the world at bay, but Hubby came and gave me a hug. Often when I’m feeling emotional/angry I’ll escape from contact as soon as I can, but he held on and my walls came tumbling down. I cried. Messy crying.

We talked. And the world became infinitely better again.

But it wasn’t until the weekend and our walk in the woods that I twigged what one of the main contributing factors had been. (I’m supposed to be intelligent, but hey…) No wonder I was feeling trapped. It’s not my family that is the problem. It was the weather. We had been pretty much trapped in the house every weekend for the last month by regular storms. Not easy to wrap up and head into nature when you’ve got wheelchairs and poor balance to consider. And I DO really need a fix of nature every so often.

Of course with coronavirus complicating the world right now, social distancing and self-isolation are the key words being thrown around and we may end up having to stay in again. But spring is around the corner, the weather is improving, and the garden desperately needs some work. I am determined not to feel trapped by this.

I only ever really write about our own story. I’m no expert and don’t feel qualified to preach to others or give advice. All I can say is that reaching out to others really can make a difference. Maybe not every time. Maybe sometimes you’ll be pushed away. But just maybe you’ll be the right person at the right time and you can help them out of that hole.

Trials and tribulations

When we made the horrible decision to withdraw Pudding from the clinical trial he was on I felt relief in a way because I would finally be able to write a long ranting post about the things that had gone wrong for us. A post that I didn’t dare write before.

But… four months on and I’ve still not written it. Why not? Well, ranty posts really aren’t me. There are definitely aspects that I would love to have been different: if decisions had gone another way then I think my boy could have had a real chance at this treatment working for him. But the treatment IS working for other boys and righteous anger isn’t going to help anyone, least of all Pudding. So instead, here’s my honest view of what life is like inside a clinical trial.

ward2Whilst I knew a fair amount about research and trial design from my chiropractic degree, life as a participant (or in my case parent of a participant) is quite different from the theoretical facts.

Travel. This is the first aspect of trial life that made my heart sink and it continued to be one of the most difficult. Of course the ideal would be a trial centre close to home but in the world of rare disease research that is always going to be unlikely. We had a journey to Manchester every four weeks, and other families I know travel further, every week. Although travel costs are covered or transport tickets provided, that doesn’t take away all the stress. We had the choice of me driving (and god, how I hate the M62) often making a 12 hour day, or braving the disapproving stares of train commuters while Pudding kicked out or threw his tablet at them. Never quite worked out which was worst.

Numbers. A clinical trial is all about numbers. Trials for common diseases often have hundreds or even thousands of potential participants, but with rare disease the numbers are much much smaller.  Those developing a treatment need to be able to prove it works and, particularly when dealing with such a limited group of participants they do that by removing as many varying factors as they can. Data is anonymised, you are given a number. Everything is measured, quantified, recorded on scales. In some cases, parents believe that they can see a difference in their child’s progress and well-being but if the numbers don’t agree, the treatment won’t get approved, the pharma company won’t make money. Bang, trial closed. This is a hard lesson to learn, but I think is a very important one for any parent thinking of entering a trial – to a big pharma company you will always be just a number.

Guilt. I’ve often mentioned that as a mother I think I’m hard-wired to feel guilt. That’s upped as a parent of a disabled child. And once on a clinical trial – let’s just say stratospheric. Pinning your child down for a procedure that he doesn’t want and doesn’t understand is heart-breakingly awful. But it is ten times worse when you know it is something that you have chosen to put him through. You can argue to yourself that you have chosen this for all the right reasons and that it has the chance to save his life, but at the time it makes not one bit of difference. In that moment, you just want to pick him up and get the hell out of there. But you don’t…and you continue feeling guilty.

wardThe left behind. While we’re on the subject of guilt, this is a big one. As I mentioned above, a trial needs to ensure it’s looking at as a similar a group of participants as possible. And that means inclusion/exclusion criteria. For the IT trial we were on they were certain health requirements and being within a certain range of intelligence (55-85% of ‘normal’). I know a number of families whose children weren’t eligible for the trial or were diagnosed after the numbers were filled up. Pudding himself only got in with one mark to spare. Any time I complained about the difficulties of trial life I would feel so much guilt because I knew that we were the lucky ones, the ones who had the chance that any parent would give the world for. At least that’s one thing that I no longer have to feel guilty for now that we’ve joined the world of the left behind. But I also don’t feel envy for those who continue to see progress on the trial or who will hopefully benefit in the future, just sadness that it will be a long time yet before this condition will no longer be described as life-limiting.

Families. Although it often means leaving your own family back at home, one incredible benefit of trial life is spending time with others. Living with a rare disease is pretty isolating. Gradually you do make friends with others in a similar situation locally, but there is nothing quite like being with those who completely get what you are going through with no need for explanations. People who understand all the ups and downs of the trial. The staff too can begin to feel like family – we saw the same nurses every month for almost four years and it was so hard to say goodbye.

playroomHope. This is what it’s all about really. With any trial treatment you choose to get involved presumably because of the hope that it will make things better. After diagnosis of a life-limiting condition then this hope becomes more important than ever. Particularly in those first few months after we heard of MPS, life was pretty bleak, and without hope – hope that he would get on the trial, hope that it would help – I’m not sure I could have got through it. The negative thoughts and beliefs never disappeared, but that’s ok. Hope balanced with caution is the approach that made the most sense for me.

Reality checks. One thing I never expected was how I would feel during the regular psychology questionnaires. These are designed to assess everyday skills as reported by parents so has reams of questions about reading, writing, toileting, social interactions and so on. Even before Pudding started losing skills (meaning that I was answering no more and more) this relentless barrage of things he couldn’t do was something I came to dread. I’ve come to realise, as many SEND parents do, that celebrating small achievements and not focusing on the negatives is pretty much the best way to stay sane. So this was a reality check that I really did not need.

Juggling. Planning ahead, notifying school and taxi, fitting in other appointments while we were there, making sure someone would be able to pick T up…  Not too hard, seeing as I don’t work and have reliable friends and family around. But still extra stuff that needs to be kept on top of.

Looking back over all of this, it does seem to paint a fairly negative picture. So if we had our time over again, would I still choose to go down this same route?

Absolutely, I would. No question.

We always knew that one of the reasons we got involved was not just for our own possible gains, but for the greater good. Without research and clinical trial particpants, no new treatments can ever be developed. I do, of course, worry that Pudding’s experience will make those all-important numbers look a bit worse,  but we can’t change that.

And I know that in the future I will be able to look back and say ‘We tried.’

Today I cry

Today I cry.

This morning I should have got in a taxi to the station with Pudding, caught a train to Manchester and arrived at the hospital. We would have had a lovely greeting from his fan club of nurses and other staff. He would have had a dose of the potentially life-saving drug, just as he has done every four weeks for the last three and a half years. And we’d have whiled away the next four hours with playing and TV in between medical observations.

I am sure that we have made the right decision in withdrawing Pudding from the clinical trial. But that doesn’t stop it being hard. And so I cry.

I cry for the loss of hope. I cry for the loss of his future. 

Pudding with a massive smile, laughing at someone just off camera.

I cry that after three and a half years one of the boys on the trial finally learnt my name and now we won’t see him again.

I cry for the skills he has lost and those he has still to lose.

I cry for the other boys with Hunter Syndrome that never even had the chance of this hope. And I cry for families that have been on trials before that were ended with no choice or input from them.

I cry for the strength I will need to deal with things still to come.

Today I cry. But not for ever.

I don’t have the time. For one thing, it’s production week for our play right now and I’m too busy to spend long in the emotional depths. But also, I think of the reasons that we actually made this decision. One of the huge positives of this choice is to give us more time to enjoy away from the clinical hospital side of things and I am determined not to waste this.

Every time over the last few weeks that I have looked at my gorgeous Pudding, my heart melts even more. And every time I cuddle him, I hold on just a little bit longer. Every minute has become that much more precious.

Less than a week after we saw the consultant for that life-changing discussion I did a talk at Martin House Hospice during their Open Day. I used a talk that I’d written for them on a previous occasion and hadn’t got round to updating it much. Reading through it just before, I knew there was one paragraph that I would struggle to get out without being too emotional and that’s because it had taken on a particular poignancy since I had written it months before.

And most of all Martin House has taught me that a hospice isn’t just a place about dying. Coming here is definitely about having the space and energy to live life to the full and celebrate what we have. And whether we have days, weeks, months or years to spend with our life-limited children, it’s important that we spend them living, not dying.’

And that is what I intend to do.