Holiday

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.

First treatment

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!

I want to escape…

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.

Beginnings

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. 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?