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.

Lucky

Well, what a hectic half-term that was. We headed to the wilds of a Yorkshire forest for 4 nights with my parents, Sister and family. Then it was back home for Pudding’s ERT, straight off to Leicester, via Martin House, and back just in time to drop both boys off at school yesterday morning! Hubby and I were both fairly sleep deprived and loved having our own bed  last night, but the week has helped me realise again how lucky we are.

Yes, I know how strange that might sound to some people. And I certainly couldn’t have imagined saying it two years ago when we first got Pudding’s diagnosis, but lucky we are.

Pudding in red waterproofs running away along a forest path.

The Forest Holiday (which could have been a disaster if I hadn’t realised we’d booked for a completely different site to Sister) was a superb family break. Having other adults around to help supervise Pudding takes the pressure off us, and Pudding always laps up the extra attention. Although we wouldn’t let him try the zipwire, pumpkin carving or outdoor hot-tub, he did come on some beautiful walks in the November sunshine and there was always the TV. I am so grateful that I have family living nearby who also don’t mind sharing their holidays with us.

I wrote about Martin House on our first wonderfully relaxing visit. This time was a bit different as we decided to leave Pudding there after our first night, and head off for a trip to the National Space Centre. It meant that T had undivided parental attention for 30 hours which he certainly appreciated. I also noticed how much more we could enjoy him without having to negotiate the sometimes difficult interactions between the boys. And although I thought about Pudding often and worried about things like bedtimes, I had complete confidence that he would be very well looked after. Yet again, I felt lucky that we have access to this resource.

We have a stable family life, a roof over our heads and enough money to live comfortably. We are lucky to have one gorgeous son with no medical issues and despite his MPS, Pudding thankfully has very little in the way of day-to-day health needs.

During the time that we were at Martin House, we did of course see children who are far more poorly than Pudding. It’s a hospice after all. But despite this, it is not a sad place. And in fact, talking to other parents and seeing the matter-of-fact dealings of suction tubes and peg feeds is sort of reassuring. It helps me think I could deal with that if I need to.

Unlike many families we haven’t had to fight. So many others – not just those with MPS – struggle to get diagnosis, struggle for access to services, have to fight for school provision, fight for EHCPs, DLA and Blue Badges (see glossary). Although the forms and medical stuff still take it out of me, I feel lucky that our path is easier than some.

Of course, it isn’t always easy to focus on the positives. But I know things could be so much worse for us, so right now I’m living in Luckyville.