Height

Do you remember those early baby days when you’d eagerly await the health visitor with her scales, or queue up at baby group to get your child’s red book filled in? Stripping off your squirming little bundle and plopping them screaming blue murder on the cold surface didn’t always feel kind but it would give reassurance that they were feeding ok and gaining the right amount of weight.

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I did have friends who had worries – babies ‘failing to thrive’ – but Pudding never had that issue. Born exactly on the 50th centile for boys (in other words, totally average) he very quickly headed up to the 91st centile, then the 98th (only two per cent of boys would be bigger) and then off the scale. We used to joke that he’d grow up to be a sumo wrestler.

His height wasn’t quite as impressive – he tended to hover around the 91st centile – but it did start causing me some concerns. Not healthwise at that point. No, it was because he was tall that people often thought he was older than his actual age. If you add in the development delay that was starting to be an issue before he turned three, his behaviour was often much less accepted and understood than it would have been from a smaller child.

On the second visit we had with our local pediatrician, the doctor made the comment ‘but he’s still growing well, which is a good thing’. It didn’t make much sense to me until I went home and looked up that word he’d said – mucopolysaccharidosis. Children with MPS2, which Pudding was eventually diagnosed with, tend to be big at first, but then growth tails off and stops as the waste products in their body build up. Before any treatment was developed, average height for those with the progressive condition was around 120cm (4 feet). Enzyme Replacement Therapy (the treatment that Pudding has been getting every week since he was three and a half) is hoped to lead to a much more ‘normal’ stature.

So maybe that might explain my touchiness on the subject when people who’ve not seen Pudding for a while say, ‘Oh hasn’t he grown!’ or ‘He is getting tall.’ Maybe my grouchy response of ‘No, he hasn’t.’ would be forgiven if they saw this picture. That chart in the red book so proudly filled in through the early years is now just another source of heartache.

Pudding’s height chart, showing that he has not grown since he was six and a half. His height is now below all the centile lines.

I know of course that there are many people out there of short stature who lead perfectly full lives. It’s not his height itself that particularly bothers me. It’s the implications of what it means. The implication of time running out.

Writing that, I’m acutely aware that I’ve never wanted this blog to become one long woe-fest, so I will point out the positives as well. If he was now the size of an average 9 year old there is no way I’d be able to pick him up as easily. He’s still a fairly solid 28kg (4.4 stone) which I can just about manage for short distances, with a careful eye on my back. Mostly though, I don’t feel so bad about continuing to use one of his other nicknames – Bubba. My baby.

Of course, T will always be my baby too, even when he’s grown up and off by himself in the big wide world, but I wouldn’t dream of saying it aloud. Pudding though… Pudding is a special case.

Middle Age

My son is as old as me.

Not chronologically of course – he’s eight and I’m 49. But the other day I realised that soon he’ll be nine, and in Hunter Syndrome terms that is getting closer to being old.

One of the blessings of being in lockdown again is not having to do the school run with T. Normally I do enjoy it; strolling along past the little lake, chatting about Minecraft or Pokemon or Last Avatar. Sometimes, I walk a different way which means I was more likely to see Pudding’s mainstream classmates – children he’d still have been in school with if MPS had not come into our lives. For a long time after he moved to his fabulous specialist school the obvious differences between them stopped bothering me. I stopped comparing him to them and wishing things were different. But last term the negatives began to creep in again. I would see them zooming along on scooters, so tall and growing more independent. And yes, it gave me a pang knowing that they would soon be walking to school by themselves, that so many possibilities stretch before them.

They are growing up but are far from old. Whilst Pudding is more like me.

I groan now when getting up off the floor. Pudding will no longer bend down to pick most things up off the floor (a tempting shoe to throw being one exception). I can hardly see to thread a fine needle like I used to. He is finding it more and more difficult to judge depth when stepping from one surface to another.

But while I know I’ve got years ahead of me before I am done with middle age, I don’t know about Pudding.

In the MPS world birthdays are scary. A birthday doesn’t just mean another year older. It means another year closer to old age. When a life can be cut off before adulthood, when is old age? 15? 13? 10?

I don’t know. And I don’t want to find out.

Disability

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

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

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

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

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

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

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

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

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

Seeing things differently

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

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

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

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

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

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

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

One photo. So many different ways of seeing it.

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

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

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

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

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

Time

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

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

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

I can stop time.

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

And time…pauses. Nothing else matters.

Fear

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

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

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

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

Scary.

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

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

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

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

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

cuddle

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

Logic taking another little holiday.

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

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

 

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

Why MPS Awareness now?

A couple of days ago I wrote on Twitter that it felt strange shouting about MPS Awareness Week at a time like this. After all, why should anyone care about a rare condition that no-one has ever heard of, when they’ve all got their own worries at the moment?

But the more I think about it, the more relevant it does seem.

I suppose it also follows on from my last post – Trapped – that I’d completely forgotten about until coming on here just now. (Unsurprising. It was written a whole two months ago.)

Covid-19 has brought the whole world to a standstill. Normal life no longer seems real.  People are worried about the future, worrying about whether they can still work. Dealing with stomach-churning anxiety when doing the simplest of tasks. Stuck indoors and isolated from everyone else. We clap the NHS every week.

Welcome to the world of an MPS parent.

IMG_20170109_180120Listening to the emotions that many are going through during lockdown brings back memories of the time we were first told that Pudding had MPSII (Hunter Syndrome). It was a bombshell, rocking our world. All plans went out the window. I felt like I was stuck on a rollercoaster, my heart constantly lodged in my throat and life became more about hospitals and than school sports days, and NHS staff became my heroes. As time went by, Pudding’s behaviour often made it easier to stay at home away from other families who would point and make rude comments. Isolation among MPS families (as with others dealing with disability) is common.

But the analogy doesn’t hold up for long.

Covid-19 is a horrible virus, that spreads easily and has caused many deaths. But we will see an end to the chaos eventually. Scientists are working flat-out on vaccines and treatments. And until then, unless you are in one of the vulnerable groups (which include many people with MPS) there is a good chance that you will pull through.

Some types of MPS do have better treatments right now. But particularly for those with progressive MPS 2 or 3, once the crisis of Covid-19 is over, the future still doesn’t look bright. Once we have been handed that diagnosis we know what the future will bring, and it is not one that any parent wants to hear.

I don’t mean to underplay this trauma that everyone is going through right now – after all, we’re going through it too. But I hope it explains why I will still shout louder about MPS awareness at this time.

Please join me on Twitter or Facebook on the 15th May in wearing blue (or purple internationally) – we’d love to see your pictures.

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.’

Memory

So what does it mean when I say that MPS is a progressive disease?

Things change, but ever so slowly. Skills lost so gradually that I barely notice until months later when I’ll suddenly realise that something else has gone. And sometimes I don’t remember at all.

I know that he’s lost pretty much all his language now, and can list off many of the things he used to name when we looked at books together – cow (moo), bird, cat, clock, fish, shoe and so on. I can still hear his voice in my head sometimes but I wish I had so much more on video. 

Pudding in the garden chasing a ball with a big grin on his face.But Facebook reminded me the other day that he used to say ‘kick’ or ‘roll’ in context too. Both long gone. Even the way he plays football has changed – his skills used to be amazing and he can still wow strangers with his kick. But these days he’s more likely to simply pick the ball up and run away with it – of course with a big cheeky grin.

The way he used to say ‘Thank you’ would melt your heart – also forgotten until another MPS mum mentioned it recently. And just yesterday a memory came up from five years ago that he’d tried to sing ‘Twinkle Twinkle’. I literally cannot remember this at all, can’t even picture the possibility.

Maybe it’s just my memory keeping me safe from mourning too much. Maybe I’m getting better at living in the moment.

But sometimes I’m scared that I’m forgetting too much. And I want to preserve all these precious ‘last times’. Gather them up and hold them safe, even when I can no longer hold him.