The Good, The Bad, and The Ugly

Finally getting round to explaining what set off my last rant about MPS. Of course, I always hate MPS (who wouldn’t when your child has been diagnosed with a life-limiting illness?), but I found last week’s hospital trip particularly hard.

So here it is – the good, the bad, and the ugly. Though as I always prefer to end on a positive note if I can, it’s actually the ugly, the bad and the good!

The Ugly

As you may have read before, the clinical trial Pudding is on had disappointing first year results. Before the boys received their doses this time, our consultant (who also runs this phase of the trial in the UK) gathered us parents together to explain what he has heard, and answer any of our questions. He wasn’t able to give us too much information as the full results are embargoed until February when they will be announced at a conference. But what he could tell us was that he was more heartened by the results than he had expected.

The reason I’m still calling it the Ugly is that analysing data for such a small group is …well… complicated. Without going into a whole essay about the mechanics of designing clinical trials (I find it fascinating, but you probably wouldn’t!) one year of data is just not enough to show clear benefits. So their next step is possibly to include data from other studies done previously which show the normal course of decline in MPSII. Not a straightforward process, but there is potential.

Of course, there will still be the issue of getting agreement from NICE and NHS England to fund it if the drug is approved. But I’m trying to hold onto something our doctor also said about the many battles he has had to fight in his clinical career. ‘I’ve realised that the only way I can get through, is by dealing with them one step at a time.’

The Bad

This is the one that knocked me for six. After a bad night’s sleep on the ward (Pudding was still climbing out of bed and switching the lights on and off until nearly 11pm) and the morning’s discussion on trial issues, I had another talk with the consultant. He told me that Pudding has developed antibodies to the enzyme infusion that he receives every week.

Pudding on a see-saw in a bright red ladybird-design coat.

Again without going into all the details (lesson on cell biology, anyone?), the basics are that all sorts of different antibodies circulate in the blood. The ones that we really don’t want to see are neutralising antibodies which stop the enzyme being taken up into the cells to do their job. And yes, those are the ones that Pudding has.

These results are actually a year old, so there is a possibility that more recent results will show that the antibodies have gone down again. It’s unlikely though, as there have been a few other reasons to think that the enzyme is just not working as well as it should be for him. Of course, without the enzyme clearing away as many of the waste sugars, they will be building up again, and potentially causing new damage to his organs, joints and so on. So…next stage will be to think about ways to get round it. This will probably mean some form of immune suppression drugs.

The news wasn’t entirely unexpected. Some boys with this condition have a small ‘spelling mistake’ on the DNA, meaning that their body produces a faulty version of the enzyme or just not enough of it. Pudding, however, has a full gene deletion. So the synthetic enzyme he gets is completely foreign to his body, and hence…antibodies.

In the grand scheme of things it’s not the worst news in the world. But it certainly wasn’t what I wanted to hear.

The Good

Yes, that’s it from the depressing side! Yay!

Even in the depths of this horrible MPS world, the silver lining is always the other people that support us along the way. Our lovely doctor, who cares so much for each and every one of his patients and hates giving us bad news. The nurses and play specialist who look after Pudding so I can off by myself for a cry. And of course, my fabulous, wonderful MPS family. This hospital visit was the first time in ages that all four boys on this phase were treated on the same day, so I could have a chat with the other parents.

When I got our bad news, one of them gave me a massive hug with a tear in his eye. Hugs that come from someone who truly understands what you’re going through are the absolute best. They can never make things completely better, but it’s a bloody good substitute!

 

PS. We do have another bit of good news that I’ve heard this week, but I won’t write about it until we’ve got the official letter!

Hatred

T, Niece or Nephew sometimes say things to me like ‘I hate broccoli’ or ‘I hate doing science’ and I’ve always told them that hate is a very strong word. That maybe we can think of a better way of describing how we feel about something.

But I can say truthfully and unequivocally, I hate, HATE, hate MPS.

I hate that mucopolysaccharidosis is a word that now rolls off my tongue easily when most people have never heard of it.

I hate that people I know are having to make heartbreaking decisions.

I hate that I have to watch my son take medicines and needles and recover from anesthetic with no idea why he’s being put through all this.

I hate that children are dying.

I hate that I’m too tired and miserable today to even try on some clothes that I’ve just had delivered.

I hate that I see other little boys with nasal cannulas and g-tubes.

I hate that every time you think things are looking up there is another barrier to face.

Pudding watching TV in the hospital playroomI hate that the few other families who know and understand this MPS life are spread all over the world and often out of reach.

I hate that I have to understand terms like ‘neutralising antibodies’, ‘urinary GAGs’ and ‘hypertrophic cardiomyopathy’.

I hate that this bloody disease punches you and punches you and punches you again.

And I hate that I can’t make this any better for my little boy.

 

Sometimes the word hate simply isn’t strong enough.

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!