It was Pudding’s birthday this week, and I’ve been surprised by some of the emotions it has thrown at me.

Facebook of course delivers memories to me of previous years and previous birthdays. I look back at them and wonder how this can be the same family; they have never heard of MPS or Hunters, not had weekly infusions or sat anxiously through another surgery. I looked at a photo taken of him at only a few hours old and simply could not comprehend that this was the same boy who has given us love and worry in equal measures.

For many MPS parents, I know birthdays and other events must be even more bittersweet; they can look back at previous years and remember ‘Back then, he could still walk/swallow/say ‘I love you’.

I at least have so much to be grateful for: we can still see progress rather than regression.

A year ago when Pudding had just turned 3, we had only just started appointments with Speech and Language. His understanding of even the simplest one stage commands was exceedingly hit and miss, whereas now I can ask him to do basic tasks, such as ‘get your shoes’, without having to repeat and repeat and use gestures. (Whether he chooses to do something is, of course, a different matter!)

Last year, he would mainly play on a very physical and sensory level. Now he still very much enjoys crashing his cars off the windowsill, or flinging objects at us very hard. Yet when I unwrapped (yes, we haven’t quite got that concept yet) one of his presents to find a remote control car, he immediately sat down on the floor with it and tried to work the buttons, looking between the controller and the car. He knew what it was meant to do!

He has come so far in a year, despite all the gunk clogging up his poor brain. Not as far as many other children will have done in the same time, but I am so proud of my little boy.

Hospitals are strange places.

When you spend longer than a few hours in one, time seems to stretch and contract in different ways. You enter a suspended state of animation where the hours are measured by the next set of obs (temperature, blood pressure and oxygen levels – every four hours), other tests or the regimented mealtimes.

A trip outside the ward, even if it’s just to go get a coffee, feels like you have escaped illegally. Breathing in some actual outside air full of invisible pollution from the surrounding city couldn’t be better, even if it was fresh from the purest mountain resort.

When Twiglet rings to speak to me on the phone before bedtime, I hardly recognise his voice. It seems impossible that he can be my son too; he exists on a different plane to me.

Staff are wonderful at trying to make us feel relaxed and at ease but it is odd to have no responsibilities. I’m not able to make my child a piece of toast but I can tell them which size gripper needle to use.

Freed from the restraints of tidying or washing up I find myself more able to sit and play with Pudding, truly enjoying being in the moment with him. Together we race cars down the ramp, and give Mr Potato Head an extra three arms.

But once he settles in front of a film and I have read a book for a while, I find myself a little at a loss and end up surreptitiously tidying up toys in the playroom. (The wonderful play specialist would tell me off for not taking it easy but I can’t help it!)

We’re of course in a privileged position – unlike many stuck in hospital Pudding isn’t unwell. Far from it. Apart from objecting to being pinned down for the dosing and many subsequent blood takings – 11 in 36 hours this time – he’s been having a whale of a time. Running around with the other boys on the trial, kicking a ball up and down the corridor, mesmerising all the nurses with his curly hair and lightning grin. He even got an early birthday cake and balloon octopus!

We did have a bit of a worry initially, as his temperature went a bit high just before the dosing. I didn’t think I could bear having to cancel and come back the next week, but after we stripped him to his nappy, his temperature came down again and we got the go-ahead.

The trial team had all the emergency medications ready in case of a serious reaction, but everything went smoothly. The new port worked just as it should; they were able to draw some CSF (the fluid that surrounds the brain and spinal cord) for testing and deliver the new drug. Unlike the weekly infusions, it was over so quickly; almost the longest part being the need to clean the area thoroughly three times to minimise the likelihood of any infection.

So that’s it until next month. And the next few times we don’t have to have the blood samples done, so it will just mean two nights in the hotel and not having to sleep on the narrow pull-down bed. Hoorah!

So this is it. We’re heading off to Manchester again later today.

This could be the first week of the rest of Pudding’s life. The first dose of a monthly enzyme that could potentially halt the progress of this horrible disease.

We’ve known about this trial ever since we first sat down to talk with the specialist consultant back in July. At that point we hoped to goodness that we would never need to learn any more about it, but of course that wasn’t to be.

Once it was confirmed that Pudding has the most severe form of Hunter Syndrome, we had to face it. Clinical trials of course have an element of risk. There was very sad news lately of a trial for Duchenne muscular dystrophy being suspended due to the death of one of the participants. A different drug and a different disease, and the death may not have been caused by the trial drug itself, but it’s enough to make anyone stop and think again.

Although other boys have been on the Hunters trial safely for a few years now, the numbers are still small. Could it be our son who reacts badly?

It’s a risk worth taking though; the one thing I couldn’t bear would be to look back in ten years time and think, ‘We had a chance, but we didn’t take it’.

So here we are, taking that chance. The dose will be given on Tuesday morning, but because of all the tests afterwards we don’t get to leave until first thing Thursday. Technology not always being my friend, I may not get a chance to update you until then.

For now, wish us luck!

I place him on my bed and pull the covers up over him. He snuggles down with a grin so wide it screws his eyes up. I lie down next to him and close my eyes.

Sometimes he resists his afternoon nap; he’ll slither off the bed, throw cushions off the chair and clamber up to look out the window. He’ll tell me what he can see – ‘car!’ or ‘bir!’ – repeating the single syllable over and over again in the hope of getting a reaction from me. I pretend to be asleep, and pat the bed next to me and he eventually returns.

Other days, he is so tired from his night-time partying or early morning wake-up, that he conks out almost immediately.

Today it is an in-between day. He’s not in bouncy-Labrador-puppy-mode, or too exhausted. He chats at me for a bit, and shifts position a couple of times. I try not to look at him or I know he’ll want to play more.

One stubby finger pokes me forcefully on the nose – ‘Beep!’ – then explores up under my glasses to squish my eyeball. I suppress an urge to giggle. His hand then reaches up to my hair; it’s just long enough now for him to twirl. He’s a little frantic at first, tugging and pulling as he tries to wind my hair in his fingers. Soon though, the habit calms him; the movement slows and ceases, his hand resting heavy on my face.

I carefully lift his hand down. He startles and semi-wakes. Shuffles round to tuck arms and knees under him, bottom in the air in classic toddler sleeping position.

While I watch him sleep, all my worries about treatments, appointments and paperwork recede into the distance. Hunter Syndrome has less power over me. I gaze at his face and listen to the ever-noisy breathing.

There are things I need to be doing – downstairs is a tip, and the washing basket is full again.

They can wait. I’m busy right now.

Imagine you’re nearly six years old. You’re bright and lively. You love your brother but hate the way he hits you all the time for no reason. You love Lego but have can’t leave any of your models out in case your brother destroys them and eats them. You get frustrated that when you’re trying to tell your parents something they often don’t listen all the way through as they’re distracted by him. When you’re out and about, you can’t stop and look at something you’re interested in, because you all have to chase after him. If you don’t finish your dinner you’re not allowed pudding, but your brother doesn’t have to abide by the same rules as he doesn’t understand consequences. You can’t read in bed as your brother is more likely to wake up and cry if the light is on. You lose your temper easily and sometimes your parents can help you through that, but other times they snap back.

I know I’m often not the parent that Twiglet needs me to be, and that makes me so disappointed with myself. I try hard to be patient. But on days when I’ve been stressed or tired it is ridiculously hard to respond carefully when he is shouting at me.

Don’t get me wrong – he is a lovely boy; often patient and loving with Pudding, helping him or me with things, and always keen to tell me about stuff. But he loses his temper a lot at the moment and I know I’m being unfair when I expect him to act in a more logical manner. He is, after all, not quite six.

We often do things together that he does enjoy, such as reading, playing Lego or games. More often than not that means doing it when Pudding is having his afternoon nap or one parent takes him out while the other stays at home on Pudding duty.

But yesterday we had a whole day out together – Twiglet and parents – while Pudding stayed with Mum, Sister, Niece and Nephew from 8.30am till 7pm. It was A-ma-zing! We went Magna Science Adventure Museum and spent ages doing all the hands-on activities. At one point I saw a mother dashing wildly after her small toddler and was very grateful that I wasn’t having to do the same with our rather larger bundle of energy! Then we came home and Hubby and Twiglet played on the computer while I (oh yes!) did the washing up and some other jobs, as well as a sneaky read upstairs on the bed. Then we had a meal out.

All day I was aware that I could enjoy being with Twiglet so much more when the focus of my attention wasn’t constantly being pulled away. I love his company and the strange random conversations we get into. And of course, he didn’t answer back or lose his temper at all during the day. Positive attention definitely works.

Now I just need to figure out how to keep that going whilst breaking up fights and still getting stuff done around the house!

I have found this week REALLY tough.

Pudding has continued to be pretty whingey most of the week, though he is certainly improving, moving around more easily and sometimes going for half an hour without the TV on.

I’ve continued to worry about whether we’re doing the right thing; putting him through this pain and misery voluntarily. It has the potential to save his life but there is no guarantee. It has also made me call into question my own worth as a parent – if I’ve found it this difficult to deal with a week of irritability, how on earth would I cope when it actually gets into the difficult stuff?

I’ve always been keen to read and know as much as possible about what we’re facing but sometimes it can be a double-edged sword.

Even the medical knowledge that I do have from studying clinical medicine in my degree doesn’t always help. I look at Pudding and can see that is moving ok, no stiff neck or rash, no weeping from the surgical wounds, no temperature and not off his food. So logically, I know that there is nothing to really worry about. But after another few hours of miserable crying I can’t help but question that certainty. As a mother, every instinct is to make your child feel better, and when you can’t…

I did ring the research ward yesterday and got some reassurance. All I can do is keep up the painkillers and wait it out.

As the week goes on there are more moments of brightness; yesterday he joined in with Niece’s ballet practice, and this morning I did make him laugh for a while when two of his toys had an argument.

Right now I’m typing one-handed while he snuggles into me to watch more TV. He is not complaining, and he is in the right place for me to drop kisses on his curly head. Right now, I’m content.

 

‘My child was sick last night.’ Not an earth-shattering statement in the grand scheme of things.

You keep an eye on them for the rest of the day, don’t send them to school, ask how they’re feeling now, and know that it will probably pass quickly.

But when the child in question is mostly non-verbal, it’s not always that easy. He can’t tell me how he feels. He doesn’t know whether he’ll be sick again. He wants food anyway.

When the child in question has had an operation 4 days ago, I’m asking myself is it taking longer for him to shake off the general anaesthetic this time? Is he still whinging because his tummy is upset or is it something else? Is it a headache, or does it hurt where the scars are healing?

Should I cancel his ERT this week?

Am I obsessing too much? Why do I worry all the time?

Did I really do the right thing putting him through an operation like that?

Or is it just a simple tummy bug and will pass quickly?

Questions, questions.

Getting home yesterday was soooo nice. Though the drive itself was not – Pudding cried most of the way. Don’t blame him at all – I probably would have done too, if I’d been through the same thing.

The operation went just as planned, and the new port (or intrathecal drug delivery device – IDDD – to give the correct name) seems to be in the correct place within the spinal membranes and is working fine. We have strict instructions not to let anyone touch that one EVER unless they know exactly what they are doing. If someone mistook it for an IV port and tried to access it for drawing blood or injecting something in, the risks would be tremendous.

The surgeon had said that all being well we could go home on the same day, but I knew that was very unlikely to happen. Poor Pudding is one of those individuals who just doesn’t deal with general anaesthetic very well. When he finally woke up he didn’t seem too unhappy but I held off from giving him any food as I knew by now that he was likely to be sick, and he was. More anti-sickness meds sorted that out and he was soon eating and drinking again. Any attempts to sit him up brought on more crying though. This was very likely due to the loss of cerebrospinal fluid during the operation which can lead to a horrible dehydration headache – think of a bad hangover!

So it was inevitable that he had to stay overnight on a different ward. Again it was Hubby who drew the short straw and stayed in with him, while I retired to the hotel for the luxury of a nicely cooked meal and double bed. I felt (a little bit) bad but driving home after listening to crying children all night would have been a disaster.

The next morning he seemed a lot brighter, but was still wary of any movement, probably due to pain from the two incisions – one on his side where the access point for the new port is, and one on the back where they went into the spine. One of the nurses on duty recognised us from the weekly ERT sessions. She knew what Pudding is normally like, running up and down the corridors, so took us seriously when we said that he wasn’t himself. More painkillers, another visit from the neurosurgery team and a few hours later he had brightened up enough to be released.

Yet again, we left the hospital feeling so grateful for all the care we have received. The NHS is a marvellous thing and long may it last.

It was a little bit weird driving home after being in the hospital bubble for the best part of two days. Since then, it’s been sofa, sleep and TV. So much for my worries about keeping him less active after the operation; I think he’s going to have a slower recovery than I expected. Fine by me – the slower he goes, the greater the chance of no complications!

Today, Pudding is full of cold and heavy-eyed so I’m keeping him home rather than sending him to his usual preschool playgroup. It’s got me thinking about how much this resource means to us both.

He started last January and to be honest, I was initially nervous about what he’d be like there. When he went for our first visit, I had explained a bit about him, and that he does hit quite frequently. We didn’t have a diagnosis by then, though we were already being assessed by the Speech and Language Team. I didn’t know if he’d be ready to cope in a setting, but I knew that it would certainly be better for me. It was awful to admit it, but I was really struggling looking after him all day every day. Dealing with the constant demands for food and tv was wearing me down, and it had just taken me months to teach him a few body parts. I felt like I was failing as a mother. I would look at other stay-at-home parents who seemed to have endless supplies of patience and knew that wasn’t me.

The preschool manager (who has been there for years) was extremely welcoming and supportive, but I still worried. She explained that children aren’t allowed in the kitchen area. I pointed out that Pudding hasn’t been very good at accepting boundaries. She said breezily, ‘Oh, they all soon learn!’ I remained unconvinced.

A year on, and he still hasn’t learned not to go in the kitchen! But it isn’t a problem; they just shut the door when they need to.

I’m sure all parents worry about what their child will be like when they go into a setting unaccompanied. Will they behave? Will they make friends? When they reach school will it be more difficult? Will they be bullied?

For now at least, these questions no longer worry me. When we get there in the mornings, Pudding runs in to give the staff a hug and looks around, eager to see what there is to play with that day. I often stay for a brief chat with his keyworker, to discuss our latest news or talk about any goals we’re working on. I watch Pudding during this time, and I see so much to make me smile.

I see him waiting his turn at the top of the slide without pushing. I see another child arrive and immediately ask where Pudding is. I see two boys hand Pudding a toy and giggle excitedly as he runs off so they can play their usual chasing game. I see him thriving in the environment, and being accepted for who he is.

The other children don’t seem bothered by him not understanding the ‘rules’, and happily chat with him even though he can only respond in single words. They haven’t yet learnt about difference or prejudice, and respond simply to Pudding’s pleasure in their company.

As for me, a few times a week I get to do something that I want to. It gives me the space to feel like me again, and I know I’m a better mother because of it. Oh, and I get the best hugs when I go to pick him up!

So, it’s official – surgery is booked in for next Friday. A week today it should all be over.

Last time I wrote I was feeling pretty scared about it because of the other boys I’ve seen on Facebook having complications after the spinal port was placed. The 30 page consent document mentioned all the potential risks, and I knew what we were signing up to. Reading about risks though doesn’t hit home nearly as much as seeing a picture of a boy in hospital fighting off a serious infection.

More than once I’ve wondered whether we are making the right decision but I’ve got a lot more used to the idea now.  And the reason? It’s Facebook again.

Another mum in the UK who I’ve got to know on Facebook (and met at the panto!) has been sharing some of their experience with me. It’s so reassuring to hear about the care that is taken by the trial team, doing all they can to address potential problems even before they occur. And on a group set up for parents to discuss trial matters I’ve been reading about the progress that many of the boys have made with the delivery of enzyme to their brains; from increased vocabulary and understanding, to being able to zip up their own coat. I want that for Pudding. I want it so much.

He is learning still, even now. Yesterday when we were playing with some of his little figures, I said ‘This man wants a friend.’ Pudding immediately pointed at the box where all the others are kept, and said ‘There’. (Well actually a lot of gobbledy-gook followed by ‘Dere’!) How much more could he learn if we can stop his brain filling up with waste products?

I know it’s not guaranteed – it’s a trial after all and for some on the first phase, the treatment was not enough to halt progression of the brain disease. But it’s worth the risk.

Nothing ventured, nothing gained.