Moving on

In amongst all the negative stuff about antibodies, trial and so on, it is a pleasure to have some good news for a change.

Way back in September 2015, Hubby and I were looking at schools for Pudding and trying to work out what would be best for him. It was hard making a decision because of course we couldn’t see into the future. We had no idea what the next few years were going to bring. We didn’t know whether he had the severe version of Hunter Syndrome that affects the brain (he does), whether he would get onto the clinical trial that might help his development (he did), whether he might improve enough to start catching up his peers a little (he hasn’t).

Pudding smiling widely in his red school shirt.We already knew what the local primary (which T attends) was like, and we also went to look round the nearest specialist provision. (The term ‘special school’ still makes me wince a little, though there isn’t really an easily understood alternative.) It was lovely there but in the end we chose mainstream. I thought it would be good for him to be rooted in the local community and good for others too, to have some understanding and acceptance of those who are a little different to them.

I will never regret that decision as there have been many positive aspects to Pudding’s time in mainstream. However, going into Year 1, I knew that the challenges for everyone would get greater. Whilst his peers were all learning to sit nicely and be taught more formally, that was never going to be easy for my little whirlwind. We tried, and failed, to get a split place between the mainstream and special schools. I had found reaching that choice a very emotional journey, and even harder to then be turned down.

But a place has now come available and Pudding will be starting at the special school after Easter.

I know he will be missed in mainstream – for a start there were three devastated faces when I sat T, Niece and Nephew down to tell them the ‘good’ news! His TA will have significantly less bruises but will miss him awfully. And the rest of the school will probably seem oddly quiet for a bit.

One thing I hadn’t expected was the reaction of our SENco. She was quite emotional when she told me how hard she had found it to paint a less than positive picture on Pudding’s EHCP – that it made her feel that she had somehow not done her best for him. Yet this couldn’t be further from the truth.  In fact, by being honest about the limitations we were working under in mainstream she has helped him find a place where I hope he will be able to flourish. I would hate her to think she has failed in any way as she has done so much to support both Pudding and I while he has been at the school. She has coordinated people, resources and reams of paperwork. As well as catching up at her SEND coffee mornings and at formal meetings, she has also been known to email me out of hours when I’ve had bad news. I’ve read so many accounts from other people who have never had anywhere near this level of commitment from their SENco, so I hope she knows she is one in a million.

I know I’ll be an emotional wreck on Pudding’s last day in mainstream but I am truly excited to watch this next stage of his life. Onward and upward!

Looking back

I’ve been avoiding writing another blog post and it took me a while to work out why. With the New Year comes the time to be making resolutions and looking forward. Yet with so much uncertainty around Pudding’s future at the moment, I don’t think I want to…

So, in order to make myself feel a bit better I have decided to look back instead and focus on some of our achievements instead.  Three from Pudding and three from me:

 

Pudding wearing a felt toy shopping basket on his head.

Pudding’s achievements

I do sometimes find it hard to stay positive about how Pudding is doing, particularly when his speech seems to be declining, but when we look back there are definite improvements in some areas.

  • His ability to focus has got so much better…when he wants! From standing in line in a PE class to knowing that he has to tidy up first before getting TV, it shows not just focus but understanding.
  • School only introduced PECS part way through last term, and none of us expected him to do so well. He grasped the concept of Phase 1 really quickly – learning that if he gives someone working with him the picture of sweets for instance, he will get those sweets. (If I remember, I may do a longer blog to explain all about it – you lucky, lucky people!)
  • We’ve discovered that he loves having little jobs to do and seems to get such pleasure in completing these routines. Putting his socks in the washing machine, delivering the register at school, sorting the cutlery into the drawer and ‘helping’ with the washing up, all bring a big smile to his face and to ours.

My achievements

  • Top of the list – I’m a much better driver than I was 2.5 years ago. I’ve never been that keen on driving and would always do my best to avoid long trips. One MPS diagnosis and countless trips on the M62 later, and I’m a pro.
  • Historically I’ve also not been much of an active person. But I can now go from 0-60 in about two seconds flat when Pudding makes a break for it. And my weightlifting capacity is increasing at almost the same rate as his size.
  • As my third I was going to put that I’ve learnt to be more patient, but I’m not sure that’s actually true. Perhaps I can at least say that I’m still trying, despite the odds! It’s definitely easier simply to put the TV on given the constant demands, and sometimes I do just give in. But sometimes…I don’t. Sounds ridiculous but I consider it a major achievement that this afternoon I actually got Pudding to do a few jigsaw pieces first.

Hubby and T have had their successes too of course. And whatever happens going forward, I know we’ll all continue making those baby-step achievements. But of course the best thing about looking back or forward is this gorgeous face. The face that can turn my rainy day to sunshine even when I’ve had not enough sleep and am grumpy as hell…

Smiling Pudding in profile with blurred greenery in the background.

Happy 2018, everyone!

Cliff-edge

I wrote recently about feeling lucky, and that’s still the case. But of course, life is more complicated than that. The truth is that right now we’re walking on a fairly even path. The sun is shining, we’re having a fun outing as a family and we’re enjoying the view. But somewhere up ahead of us is a cliff-edge.

We don’t know when we’re going to get to it, though we know it’s close. We can’t change direction to avoid it. We have no choice but to keep on walking forward and just hope that we don’t fall headlong down into the chasm below.

Sorry, that analogy went on longer than I expected. Yes, I’m talking about Pudding’s clinical trial.

I think it’s getting pretty clear to anyone who knows Pudding that he is still gaining skills, whereas boys with Hunter Syndrome really shouldn’t be at this age. Yesterday I watched a video from school of him taking part in a relay race. I just couldn’t believe that it was my little boy running to a classmate, handing over the beanbag and then waiting patiently for his next turn. Yes, of course he still needed support, but the understanding and concentration he was demonstrating were… Well, we were all amazed and T begged to see it again and again. So, from our point of view, the trial that is putting enzyme into Pudding’s brain has to be making a difference.

But what is the cliff-edge?

Around this time in 2016, the final boys were recruited onto the clinical trial which officially runs for one year. (Pudding is currently on the extension study where he still gets the enzyme, but we don’t have quite as much testing.) The pharmaceutical company will therefore have all the data they need to look at the numbers and see whether it is a treatment option that is worth pursuing.

At that point they could just decide to cut and run. That is the first stumbling block but I don’t actually think it’s likely. Some boys have been on this intrathecal enzyme for years now, and are continuing to gain skills. Some trials (including for MPSIII drugs) get pulled part-way through the clinical period due to interim results. But that has not happened with this one which makes me think that the figures so far are promising enough.

The next step is for the drugs company to apply to the FDA and EMA (the bodies overseeing medicines in USA and Europe) for approval. This is a complicated process, could take months and even if the drugs company think they have good evidence, could still result in a ‘no’.

And then, and then…. the NHS would have to decide whether to fund the treatment. That’s the one I’m most scared about.

As ever, it’s the not-knowing that I find hardest to deal with. Not knowing how long we have to wait until we find out. Not knowing what the answers will be. The analysing and second-guessing can drive you crazy.

I don’t think I can deal with thinking about it much. So I’m doing what I can to stay relatively sane. Until we reach that cliff-edge and are teetering on the brink I’m going to keep on walking, ignore the inevitable and enjoy the day while we can.

And I will continue to remind myself that we are indeed still lucky. Other families are much nearer that cliff-edge than us. While decisions are being made, Pudding’s treatments will probably continue to be offered by the pharmaceutical company. Boys who didn’t make it onto the trial still have nothing.

Old Age

I often feel old these days.

Let’s face it, I’ve always been a bit of an old fuddy-duddy, but lately it seems to be catching up with me physically. I’m not as flexible as I used to be. Hubby laughs at me when I get up off the sofa and have to hobble for a few paces before I can straighten up fully.

Pudding looking back at the camera whilst he heads out of a ruined castle archwayI can still race after Pudding when I need to. Other parents will attest to that after seeing me go from 0-60 in two seconds when he’s about to head out the playground gate. But some days it’s an effort.

I turned 40 while I was pregnant with Pudding, and do wonder if I’d find it easier in a younger body. Lack of sleep really does me in – even nights when I’m only vaguely aware of him chatting can leave me exhausted the next day. And bruises I get from him last for weeks.

You might think that with age comes more experience, conferring an advantage in the particular battles involved in raising a child with special needs. But I’m privileged to know a number of younger MPS mums who are doing a bloody marvellous job at just that (waves hello – you know who you are!).

Of course I’ve often wondered if my age is actually the reason for Pudding having MPS. Hunter Syndrome is the only x-linked version of MPS. This means it is passed down on the ‘x’ chromosone from the mother only. I don’t have the gene deletion on my own DNA so Pudding’s case is from a spontaneous mutuation.

Of course I was aware as my single, non-childbearing years continued to pass that my fertility was declining. The ‘cliff-edge’ diagrams and comments about ‘selfish women wanting to delay children due to their careers’ are thrown at you by the media. The link between older mothers and increased likelihood of having a child with Downs Syndrome is well documented and I was prepared for that outcome when I was pregnant. But I’ve never actually dared to ask the question about a similar link in MPS – whether a spontaneous mutation is more likely as the mother’s age increases. I don’t think I really want to know the answer. It’s done now. I can’t change what’s happened. I always expected to have children much earlier but never met the right man until Hubby.

My worry now is for the future. As we age, what will happen to Pudding? Who will care for him and see that he is well looked after? With new treatments becoming available maybe he will beat the odds and kick MPS in the butt. But if he makes it to 30 years old, I’ll be 70. Current attitudes to disability and long-term care available in this country don’t exactly fill me with optimism.

Sometimes the thought of losing him earlier is less scary.