Another day in Manchester yesterday, and more tears from me. I was already teary after lying awake picturing him going under the anesthetic next week and knowing that we will have a few hours to wait and worry.

Then in the morning as I walked into the hospital I happened to glance left and read a poem on the wall that I hadn’t noticed before, and it said something about stars and that a life was beautiful no matter how long or short… Couldn’t read the rest as I was in tears again.

Pudding was very whingey yesterday and didn’t really want me to leave him. The nurses had two other infusions to deal with so couldn’t help distract him as much as usual. The upshot was that I didn’t get a break until 1.15 when I finally got him to have a little sleep before the psychosocial assessment. Stressful.

But I had to laugh during the assessment. Unlike usual when he has a new audience, Pudding acted more like he would at home. The lovely lady was trying to get him to do some tests such as matching pictures, feeding a baby doll and naming things. He spent most of the time asking for food, trying to escape, throwing things and generally being himself. Silly to feel happy about something like that, but I’m used to feeling a little bit of a fraud when he behaves so beautifully in company, that it was nice to feel justified for a change.

The last straw on the teary front came at the car park. I went to the office as usual to get the parking fee reduced as our treatment took longer than the standard time. Then when I went to pay the £5 charge it came up as £115 to pay! The security guy walked in at that point and when I told him I think he could probably see how close to the edge I was. He just said, ‘Go get your car and when you get down I’ll let you out.’ Bless him!

Is there something about being a parent that sets you out to feel inadequate whichever way you turn?  A few times now I’ve read things written by other special needs parents who have said ‘I wouldn’t change X. His condition is what makes him who he is.’ Do I agree? Do I heck! If I could change Pudding in an instant, I would.

Maybe that would lose some aspects of his character, true. The funny dance he does when he wants attention. His wide-eyed earnest look when he’s pointing at something he wants you to see.

But what would I gain? The chance at a more normal life, no endless trips to hospital and the prospect of treatments needed for life. A normal life-span. The chance to shout at him for normal kid things such as not doing his homework or leaving muddy football kit on the floor. I know life wouldn’t necessarily be perfect – I don’t see us all happily sitting around the table discussing philosophy or me clapping proudly as he wins Business Person of the Year. My house will never be an oasis of calm – I freely admit I haven’t got the self-control and patience for that. But I do desperately want my idea of normal.

I know over the next year my attitudes will change. At the moment I’m still fighting against this. Whilst I busy myself looking into support groups, funding for equipment, filling in forms and so on, I still don’t want to accept it. Part of me still hopes for a miracle cure to suddenly emerge, or at the very least for the DNA test to come back and suggest a mild prognosis.

So maybe in a year or two I’ll be one of those parents saying ‘I wouldn’t change Danny for the world.’ But right now, it’s just one more thing that makes me a bad parent. One more reason why I am not as good as them.

Weeks are disappearing so quickly at the moment. This week it’s certainly because of our trip to Legoland! Yay for the MPS Society! Ok, so Pudding probably would have been just as happy with a few people in a field playing football, but Twiglet was mega-excited. Right from the entrance, he was buzzing every time he saw a Lego model. Of course, he wanted to go on rides as well, but was also dead keen on looking round Miniland or the Star Wars exhibition.

The day nearly started in disaster when we got a flat on the buggy – the thought of carrying Pudding around the whole day was more than a little depressing (he’s over 3.5 stone), but at Legoland they have cart/buggy things to hire, and it even had a steering wheel so he was happy with that. And the ride access pass (for those who don’t understand the concept of queueing and would find it difficult – definitely describes our boy) made things a lot easier.

Pudding’s favourite was the Dino Safari ride. Just a simple ride taking you round some Lego models of dinosaurs  – he looked so happy and excited – but absolutely hated getting off it again. I also loved watching him during the action-packed Pirate show we saw. At one point, when the pirates were all accusing each other of doing something, he joined in to shout ‘You!’. Bless his cottons!

They both also drank loads of sugary drinks from the refill bottles bought by the Society (meaning that the next day, for the first time since ERT started Pudding did 3 fairly loose poos – otherwise nappies have been so much more pleasant and less frequent!) and ate rubbish. Pudding didn’t nap all day, so crashed as soon as we got to the car at 5.20. I didn’t much enjoy the long drive home (got back at 10.45) but I’m glad we went.

He’s continuing to develop his language and signing, impressing Niece and I. And of course, he’s still winning over all the nurses in Manchester. We’re also getting more support. Our portage lady has put in the request for a respite assessment; the physio in Manchester will send us through to the local place for a wheelchair/buggy that would suit his size better; and our contact at The MPS Society has helped to put together the horrible DLA form and checks how we’re doing every so often. Please God, the Tories don’t pull apart the NHS altogether…

Focusing on the positive today. Pudding has definitely been making a little bit of a leap lately in terms of communication. I think the Makaton seems to be really helping. I don’t know whether it’s that he was already trying to say some of the words and I just didn’t understand, or that having a sign as well makes it more concrete for him, but today when I suggested a sleep, he said ‘Ee’ (sounding just like what he says for eat) but with an approximation of the sign, so it was really clear. He has also started using the sign for ‘Where’ and saying it, and I think today he also tried the sign for ‘egg’ despite only seeing it a few minutes earlier. Brilliant boy!

Also an achievement for today was when I had the animal snap cards out. I’d laid out three of them on the floor and gave him a matching one. Straight away he put it on top of the correct pile. Then repeated it with others again and again, even when there were up to 6 piles to choose from. When I gave him one that wasn’t already down, he looked along the row, realised it was different and put it down separately. I was gobsmacked!

We also had a lovely time at the playground the other day. As usual Pudding focussed in on some older boys playing ball and went to badger them. He then ran away with it, into the hard court area. They followed (six 10-11 year olds) and then played football with him for ages; encouraging him to kick, pretending to miss it, and complimenting his skill. It was so lovely to watch, and really gave me hope for the future, that he will be able to get on in life as he’s so engaging.

Sometimes I feel so scared when Pudding hits out. He does it in frustration when I say no to food, or TV, or need to change his nappy. It’s not just my concern about being hurt – which is a real one. (I’ve had my glasses kicked into my nose, leading to bleeding; I’ve been thumped in the throat and kicked in the solar plexus; I’ve been pushed over when he’s caught me off balance.) What really worries me is my reactions to it. When he hurts me, my immediate thought is to hit back, to hurt him and teach him a lesson; not, I know, the best way of dealing with things and I work very hard at suppressing this instinct. But what else can I do? No matter how often we patiently explain ‘No hitting’, ‘Gentle’ or ‘Hands down’ it doesn’t seem to make the blind bit of difference. Doing nappy changes I can sometimes distract him with toys or singing, but that doesn’t always work either.

The worst part is my worries about the future. If this sort of behaviour continues, I can see the potential for years of it. The other day I read something about parents of an autistic teenager who regularly hits them and can do a fair amount of damage. If, as expected with the ERT, Pudding now reaches a normal stature, he’ll be bigger than me by about 12 years old. He’s already so strong now…

Some days he will hit out at Twiglet loads as well, and Twiglet doesn’t help with the way he reacts to it and escalates the incident even further. But there are of course, beautiful moments between them as well. Just now, Pudding was sitting on the floor watching TV. Twiglet went and sat down next to him and Pudding immediately reached out his arm to pull him in for a cuddle. So sweet.

(The TV is on at 10.30 in the morning because Pudding has been really whingey, but mostly because after I said ‘No TV’, he ran to the toy garage and put all the cars away in the box, put the lid on and stacked it on the toy box, then ran to sit on the sofa. How could I refuse to put TV on after that?!)

Just as I think the drive to Manchester is becoming routine, for the next 7 weeks they are shutting one of the roads so I’ll have to find another route through Manchester. Hoorah!

Otherwise things are settling in. After last time when Claire, another ERT nurse, got the line in first time they didn’t bother getting one of ‘experts’ to do it!

But I did have another wobble. The local ENT guy (that I didn’t like!) had said he wouldn’t recommend grommets as it may not help Pudding’s speech anyway. Yesterday we saw another consultant in Manchester. He actually explained the issues with grommets (potential infections, etc) and that it is unclear what sort of effect they would have, and agreed that hearing aids were not going to be tolerated by Pudding. He was very like our local pediatrician in that he gave me the information and then a little space for me to think about my opinion. I said that given we don’t know what CNS involvement there will be, and therefore how long before any decline in his abilities. The emphasis is therefore on Pudding learning as much as he can right now so if there is any chance at all of improvement in speech and understanding then we should go for it. He agreed! Then he pulled the sleep study results towards him and said ‘Now, these weren’t awful…’ Hmmm.

Upshot is that his oxygen levels are dipping at night. Mr Bateman has proposed taking out the tonsils and adenoids while he’s under having the rest of the stuff done. Fine. I think what upset me is that it’s just another issue that we didn’t really realise about. When he was diagnosed, although I was concerned about the future, I thought there wasn’t much in the way of physical problems yet. Now I can just picture Pudding on the operating table being pulled about and prodded. It makes me feel helpless yet again.

Center Parcs!  We’re here with the extended family – 8 adults and 6 kids, in 2 houses next door to each other. Pudding is having an absolute ball! We had a BBQ this evening, though the weather wasn’t brilliant. After eating, we let him out his chair and he just wandered around, shadowed by my Mum and sister. Letting him have the freedom to just go where he wants is by far the easiest way of looking after him, but it isn’t always very practical, so he was loving it. Later, when we came inside he was kicking the soft ball  (with a resounding ‘Boing!’ each time) at the seated adults whilst the other kids batted in and out too. So much attention – he was in seventh heaven!

We can’t forget his condition easily though. Yesterday I had a phone call from Manchester saying that they can do his portacath on Thursday. Never expected to get that so soon. Obviously Jane’s scrawl over the request form saying ‘Urgent! Took 8 attempts to get a line in last time!’ worked. I said that we were on holiday so couldn’t do it this week. Then had to ring Jane this morning, as I wasn’t sure what to do about possibility of grommets which can be done at the same time. She has delayed the GA until we can get that looked into. So that’s the next thing to worry about – general anesthetics are never something to look forward to, but can be of particular concern in MPS due to problematic airways.

What a difference a few days make. Pudding’s first enzyme infusion (ERT) was yesterday and I keep looking at him and seeing a little miracle; knowing that throughout his body there is enzyme working to chop away at the stored GAGs and undo some of the harm that has been building up for the last 3.5 years.

It was a long tiring day – the drive was never going to be a blast, and the M62 was busier than I expected at that time (setting out at 6.10am). But we still did it in about 1hr 45 minutes and almost the same on the way back. Hubby came with us for this first time to help find the way, but I’ll be doing it by myself most weeks.

True to form, Pudding’s veins didn’t play ball but the chap managed to get a canula in eventually. Niamh and Sarah, the ERT nurses were both around for most of the time we were there and had no-one else to look after. We managed to keep Pudding relatively calm and still on the bed with a combination of food, tv and a variety of toys. At one point, they even sent us away to have a coffee by ourselves, though I think we both found it difficult to relax, wondering what mischief he was up to.

Jane wasn’t there this week but she had left the present of a ball for Pudding as she knew how much he loves them. After lunch, Pudding was looking very tired and there was still a while to go on the infusion, so Sarah found a blanket for him to snuggle up with while still watching tv. At one point I looked up, and Sarah was watching him with such fondness, it felt like looking like my own expression. And this was after only really meeting him that day. I nearly cried. These people are so fantastic – if I was in the habit of using the language I would say how truly blessed we are to have them looking after us.

Last task of the day was to have some X-rays done – certainly a challenge keeping him still for that – and then we got back to the car for 3pm. Pudding was asleep before I even started the engine.

We’ll be back again next week, and probably another 10 sessions after that. But now I know what we’re facing. We can do this!

Yesterday afternoon while the kids were watching tv and I was supposed to be getting tea, I had the urge to go out the door and just keep on walking. Walking and walking. Anywhere, just to leave all this behind.

It hadn’t been a good day anyway. I took Pudding to soft play with some friends, but all he wanted to do was throw balls, usually at other children, really hard. To him, it was just funny but I was so aware of how much he could hurt someone, and paranoid about being the mother of ‘that child’. I was quite relieved when our friends had to leave earlier than planned.

Then in the afternoon I went through the Disability Living Allowance form with someone from the MPS Society. Not the most fun of activities. Other reports and feedback we’ve had try to focus on the positive, listing achievements and celebrating small steps that he has made. For the DLA form however you have to put down the worst of the worst, and filling in page after page of things that he can’t do is bound to leave anyone feeling down. I still had the ability to laugh at some of the questions though – on the mobility side: Q. How long would it take to walk 200m? A. If it’s the direction he wants to go he could run it in 2 minutes, but if he doesn’t feel like it…2 hours.

We had our first visit to Manchester yesterday and it was a long tiring day (taking Pudding on the train was always going to be a challenge!). The consultant there, Dr Simon Jones, took great care to explain really clearly what MPS is all about – not much I didn’t know but useful to hear it again, and great for Hubby. He was also very honest about how little they can say for certain. We may find out what sort of severity to expect once DNA tests are done, or we may not. Jane, the specialist nurse was there too, and also another nurse who played with Pudding and kept him happy, sometimes out of the consulting room. This meant that we were free to concentrate a bit more on what was being said, and also felt so wonderful having someone else take him away even for just that half hour. All the staff we met were fantastic, so friendly and warm, and with loads of experience of this ultra-rare condition. We will be seeing a lot of them so it’s good to know we’re in safe hands.

It was a bit of a shock to find out we’re starting ERT next week, and the logisitics of sorting out the weekly drive, childcare, and so on are a bit daunting. But of course, it’s a huge positive that something is being done. As for eventual prognosis we just have to continue waiting and hoping.

I’ve been continuing the process of drip-feeding information to Twiglet. At the weekend, I was flicking through the MPS Society magazine and he shouted out ‘There’s a picture of Pudding in there!’ – even he can spot the typical MPS look! He is of course entirely unaware of the wider implications of the condition, which is just as it should be.

Niece, being older and naturally empathic, has more worries. On the school run today she asked how the visit to Manchester went, and then whether Pudding would ever learn to talk properly, to which I replied honestly that we just don’t know. Then she hit me with the most difficult question – ‘Are you concerned?’ Of course, my honest answer would be, ‘Yes, I’m terrifed about what the future will bring,’ but that’s not something I could say to her. I hedged it instead with ‘I would certainly rather he didn’t have this condition – all I’d want for any of you is to be happy and healthy.’