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.’

That moment. That moment when the pediatrician goes to fetch a box of tissues before sitting down to talk to you. That moment where you know this is it, this is real, this is not just a simple mistake on the screening test.

I was expecting another couple of weeks before we heard anything, and had almost got used to waiting. But the call from the hospital came yesterday afternoon. I didn’t sleep well last night, and this morning felt exhausted as well as apprehensive. Walking back from school run, I felt like I could hardly breathe – a tight band was cinched around my chest, as well as that sick clenched stomach.

But now we know. It’s MPS II (Hunter Disease).  I thought I would cry, but actually knowing which horrible condition Pudding has is easier than worrying about the whole range of horrible conditions. Diagnosis is a relief and gives us positive things to focus on. The first of many trips to Manchester. Starting enzyme replacement therapy (ERT). The possibility of treatments in the future that can help the central nervous system as well.

Worries still remain of course, and I sometimes feel bad about how I feel. Am I condemned to years of looking after a child with special needs? If the ERT prevents the physical problems that lead to early death but does nothing to arrest mental retardation, is that really a good thing? Will I end up resenting the loss of my freedom even more? It feels so horrible to even think this, that I’m almost scared to even write it down. Yet, I know I can’t be the only person to think this way, can I? Or are all other mothers of special needs children just saints?

Is it good for me, all this reading? I keep looking at the Society’s website, even though I practically know it by heart now. What do I expect? Some new miracle cure to pop up? I don’t know. I guess on some level I’m thinking knowledge is power. The more I know, the more I can do about it. Only I can’t. I can’t do anything right now and that is what defeating me.

Days go by now when I feel entirely normal. I still know what’s looming over us, but it’s like I can process it somewhere else, a part of my mind that is separated off and unemotional. Other days, like today, it threatens to overwhelm me again. Hubby is back at work today after a week and a half off dealing with this emotional bombshell, and I went into town after dropping Pudding off at playgroup. I expected to feel relief at the return to normality, and my usual lightness of spirit at being out the house with no children in tow. Instead, after getting what I needed, the cloud descended and it was as much as I could do to drag myself to the bus stop and get home. It is like all the life and joy suddenly gets sucked out of me. Partly I think it was Pudding being ill yesterday – nothing much, a lot of whinging, off his food and sulphur burps. But whilst he still can’t express what he’s feeling it’s hard to comfort him or know what to do. And I know it may get far worse than this.

There are lighter notes though. I’ve hesitated to tell many people about what is happening; partly because I am afraid of my own emotional response to sympathy, and partly because what do I say when it is all so up in the air still. But I did talk about it to another mother at playgroup last week, and I am so glad I did. Her eldest also has a rare genetic condition and they don’t know what the future will hold, but they’ve lived with it for almost 13 years now. She told me that the way she gets through it is to focus on the positive, day by day. Would be trite coming from anyone else, but from someone who knows what they’re talking about, it gave me hope that I can do the same.

I also spoke to someone from the MPS society which helped. They couldn’t really give me much information at the moment – I’ve read most of their website already – but knowing they are there is so reassuring. She listened quietly and patiently while I got emotional, and then told me what they can offer. She also said I can ring any time even if it is for a rant or a cry. And she said one thing which strikes me now as very wise – Pudding is the same little boy that he was two weeks ago, and enjoy him for that.

5.30am is becoming depressingly familiar. Though to be fair, it’s better than 2am. I come to consciousness and for a while lie there listening to the birds, being gradually aware of the sun on the curtains, and then boom, the knowledge is back with me. Or rather, the not knowing.

It can be so paralysing. I’m continuing to go through the motions. Clothes are washed, dishes done, Twiglet got to school, but decisions are crippling. I can stand in the kitchen wondering what we will eat for half an hour and still be none the wiser.

It is getting better though. This is my mourning period and I can see myself coming out the other side. But new losses hit me every so often. I mourn the loss of a ‘normal’ family life, the loss of my emerging life after the intense period of motherhood. I worry what life will be like for Twiglet – will he always be the one whose needs come second place to the concerns of hospital appointments? And so on. And strangely, I mourn the loss of petty little jealousies – previously I had been getting increasingly jealous of other mums as I could see the gap between Pudding and his peers getting wider. Now I just don’t want my son to die.

I can’t sleep. Again.

i’m tired and go to bed at a reasonable time, but then all the worries and possibilites start churning endlessly in my head, going round and round until i become dizzy with them. It could be the milder form. He’s progressing at the moment. but…

And there’s the problem. In my head I already know that the likelihood of reprieve is slim. My lovely vital engaging little boy might die before he’s 10. Or if he doesn’t there could be other devastating physical problems. I can forsee a lifetime of hospital trips, hope for new treatments, being dominated by this condition.

I already feel bad for Twiglet, that we can’t always do things that he would enjoy. How much more so will that be the case in the future? How can I stop myself snapping at him when I’m eaten up with worry about his brother?

In a way I know this is my grieving period. Accepting and embracing the worst that could happen, so when we get the actual diagnosis, it may come as a relief, a release from that worst case scenario. So I’m waiting and waiting again.

For the last year and a half it feels like I’ve been stuck in a strange sort of limbo – knowing that something isn’t right with him, and not being able to get that seen by any health professional. But of course then it was just a matter of ‘being a bit backward’ and ‘perhaps it’s something that will improve as he gets older’. Now, I’m still stuck in the not-knowing, but the thing we don’t know is much worse.

Real life feels strangely unreal. I can be going to fetch a bottle of milk from the fridge, enjoying the warmth of a summer morning meaning that I don’t have to shiver on the way to the shed, hearing the birds chatter gently to each other and wondering what the weather will be like. And suddenly the remembering thumps into me.

Part of me wants to shout from the rooftops what I’m feeling at the moment, display this rawness to the world, invite people’s sympathy. But circumspect behaviour kicks in. Why tell people when I don’t have the answers to any questions at the moment? Why open the floodgates in public when I may never stop crying? Why mess up their lives with noisy uncomfortable emotions? So I carry on normal conversations, laugh and enjoy sports day like all the other parents.

This is the very definition of isolation.

Thank the universe for my sister and good friends who I can talk to. Hubby knows now too, and I think it’s hitting him harder – I’ve had longer to process the possibilities.

When I got the phone message at 5.30 on a Friday afternoon I knew it was not going to be good news. ‘Hi, this is your pediatrician. Please can you call me back before six, or speak to my secretary first thing on Monday morning.’

I’ve been expecting this since the second urine sample was taken – the screening test for MPS. I managed to speak to him and arranged to meet at the hospital today. He confirmed the positive screen and Pudding had more blood taken – this will be sent to Manchester to work out which type he has.

I feel strangely empty and matter-of-fact during the short appointment. Hubby still doesn’t have any idea of the implications of this condition – I haven’t told him what I’ve found out, not while he’s been so busy with work and overseas trips.