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.

We’ve had confirmation that Pudding is now entered on the clinical trial. And he’s been randomised to the treatment arm. We’re waiting to hear about a surgery date sometime in the next few weeks.

I don’t really know what to say.

When I’m telling people they light up and tell me what fantastic news it is. And they’re correct of course. This is the best hope we have right now of stopping the progression of this awful disease and giving Pudding a chance of a future.

I think of all the boys who haven’t made it onto the trial and their parents who have been devastated by the withdrawal of this hope, and I feel guilty as anything that I can’t embrace this chance wholeheartedly.

But I also remember the pictures I have seen lately of other boys in hospital again after the spinal port surgery – those with leakage of spinal fluid or with a serious infection – and a pit yawns in my stomach.

Of course, we’ll still go through with it. There are many other boys who got through the surgery successfully and are in the routine of treatment. There is every chance that Pudding will be one of those. I’ll get used to it and stop worrying quite so much.

But until we’ve got through this next couple of months, fear will be sitting on my shoulder, kicking its legs and jabbing me into awareness every so often.

If I was a Christian I would ask you to pray for us, but I don’t have that faith to cling to. One of the first times of my life when I wish I did. Instead, I ask you to hold us in your thoughts – it means a lot to me.

I’ve always known it would happen some time. Someone other than a friend would notice that his baby face looked odd on a child that old. That he was ‘too big’ to be in a buggy. That he wasn’t behaving like a ‘normal’ child. And the comments would start.

There have already been some well-meaning remarks on the school run directed at Pudding. ‘You’ll be out of that pushchair soon, eh?!’ Erm…no…not unless I fancy him running into the road to play with the cars. But until now, we’ve mainly been cushioned from it.

Last month, we had our appointment with the wheelchair service and got a new buggy designed for older children. It’s brilliant – so much easier to push him in, and looks much more comfortable for him now he’s not squished into the too-small straps. But I think it probably does make it more obvious to a casual observer that Pudding isn’t typical.

Having read a number of blog posts on the ignorant or unkind things that people can say, I was sort of prepared for what we could hear. Our experience so far though has been mostly positive.

Last month we visited a local stately home – we love going there at Christmas as it’s always so beautifully decorated. The huge tree in the main hall has 1500 baubles and there are numerous other trees throughout the house. As you can probably imagine, not the sort of place to take a very strong preschooler who enjoys running and has no appreciation of how easily pretty things can break! So this time I asked if we would be allowed to take the buggy around, expecting disapproval. I took a big breath and made myself say those words, ‘additional needs’. The lady couldn’t have been lovelier and explained that we could use the stair lift, and that she would let them know. So we could relax and enjoy everything, pointing them out to Pudding from a safe distance, and allowing Twiglet the time to do the little trail.

The only sour note was a room guide halfway round who peered at us suspiciously and demanded, ‘Is there a reason why you have him in a pushchair?’ I smiled sweetly back at him, ‘Yes, that’s why they’ve let us through this far.’

In the last hall, we noticed a dog lying by the fire, being fussed over by lots of children. The estate worker noticed me talking to Pudding about it, and made the dog sit up and come to say hello. It was so fuzzy and friendly, snuffling around our hands, and Pudding had the biggest smile on his face. So one outing, two good positives, one slight negative. I can live with that ratio!

New Year is a pretty obvious time  to look back over the last year and on to the next, but with us, it has a particular significance. It’s been a year and a day since the paediatrician first mentioned Pudding had ‘coarse features’ and it was worth checking for underlying reasons for his development delay. It’s been exactly six months since we had the diagnosis of MPS II confirmed.

So what have I learnt in this time? Apart from a lot more than I ever wanted to about MPS.

1)  Knowing is better than not knowing. All the most difficult times I’ve had are when we’ve been waiting to hear something. Ignorance may be bliss for some but for me, no. Knowledge helps me feel more in control.

2) Helping others helps me. I’ve definitely given more to charity in the last few months. Not just the MPS Society, but other random causes that I read about. I’m also trying to be more aware of what others are going through. Some people worry they have no right to complain to me about their own lives now, but I very much believe that everyone’s pain is their own, whatever they are going through. All struggles are valid and I hope by listening and caring I can still help in a small way.

3) Hugs are powerful things. Just before Christmas when we were on the research ward another mum was obviously getting some bad news about a diagnosis. After the consultant left I went over and offered a hug. We stayed like that for a while. We didn’t talk about her child’s illness or Pudding’s. We didn’t need to. As I left a few hours later she thanked me with such gratitude. It was such a simple thing to give, but meant a lot to her as it has to me at various times.

4) Twiglet is going to grow into a wonderful boy. I’ve done my best to inform him about MPS without telling him things that he doesn’t need to know yet. His usual verdict (when not getting whacked) is that his brother is cute and that Hunters is great because we’ve had a trip to Legoland. He doesn’t know that the future may not be quite that rosy. But he has certainly seen me cry a few times lately, and has responded in such a comforting way. My nearly six year old is growing up fast.

5) I have a good marriage. Hubby and I have had occasional niggles since having children – who wouldn’t when sleep is disturbed and there is no space for your own thoughts? But he is so much more generous and better than me at apologising. He makes it impossible for me to sulk at him for long and I am grateful for that. Diagnosis of a serious illness is a known stressor in marriage but if anything we are getting stronger. Love you, Hubby!

6) Whatever the future, Pudding will be looked after. From the lovely nurses, to workers at school and playgroup, and family, Pudding wins hearts everywhere.

7) My sister is my rock. There are many other people around who I know would be happy to offer a shoulder to cry on, a childminding service when we’re off to hospital again, and so on, but my sister is special. She has just always been there – from our early days of playing together, through teenage arguments, living together when I first moved to York, and attending the birth of both my sons. When I was struggling lately, she ran me a bubble bath, made hot chocolate and fed me jam tarts. I would be lost without her.

8) I can survive this. I’ve got through the first difficult months after diagnosis. We may face many more challenges, and I know some of them will be horrific, but with the support of so many people, friends and family, how can we fail?