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.

Trial Update

So we’ve reached that cliff-edge a little sooner than I thought.

Today, Shire (the pharmaceutical company that is running the trial) released this press release. I’ll give you a moment.

Read it? Confused? I’ll see if I can translate….

Now that all the boys have completed their first year on the drug or in the control group, Shire have looked at the data. Specifically they were looking at those dreaded cognitive assessments and seeing how they differed in the boys receiving the drug and those who weren’t. And these results haven’t shown enough of a difference to take the drug forward for approval.

To be honest, I’m not that surprised. Pudding hates the tests almost more than I do, and for the last two times at least has refused to do tasks that I know he is capable of. Why should he draw a circle for the man when he knows there is a football outside that he could be kicking down the corridor? These old-fashioned cognitive tests simply don’t work well with our MPS children. (And yes, clinicians and parents have already been telling them this.) Also, a year is such a short time to assess change in a long-term progressive disease.

So, the pharmaceutical company is going to now look in greater detail at the results from each individual to see if they can pick out useful trends and data. Many families – particularly those with boys who have been on it for years – can tell them of so many ways in which it is working for them. But I simply don’t know if in the end, that will be enough. In the meantime, Pudding and the other boys already enrolled on the trial will continue to receive their dose as usual.

So, it’s not the worst news, but it’s also certainly not the best. We’re teetering on the edge of that cliff and all we can do is wait. And for those families hoping for this treatment to be made more widely available, the wait is even longer.

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(This is my first blog post for a wee while as Hubby has been doing some behind-the-scenes work transferring the website to a new home. Hopefully I haven’t lost anyone in the move. If a few email subscribers could wave to say you’ve got this, that would be great!)

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.

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.

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.

 

 

Labels

I came to a realisation in the wee early hours this morning when Pudding was slumped next to me on the sofa snoring. (Yes, more vomiting. And yes, I’m fed up of the smell.)

I was thinking about the fact that he has possibly acquired some different labels without us even being aware of it.

When he was first given the ‘development delay’ label, I found it very difficult to take on board. It was confirmation of something that I had been worried about for a while – that he wasn’t progressing as well as his peers. It meant he was walking a different path to what I had always expected from my children. And although I had wanted to find out what was going on and had sought help, it was hard to hear those official words. But on the plus side the label also carried with it the hope that things might change – that he would catch up at some point.

Of course he was then given his primary diagnosis of Hunter Syndrome affecting the brain. We have no idea what his potential is under the clinical trial or if gene therapy ever comes available. But he is unlikely to ever catch up with other children his age. Any development he makes will be slow and achievements will continue to be hard-won.

Now he is five years old, health professionals may now be more likely to use the term cognitive impairment or learning disability. And the difference this time is I don’t mind at all. My true realisation as I’m writing this is that it just doesn’t matter. This time it’s the label that is catching up with my acceptance rather than the other way round.

He’s my Pudding, whatever the label.

 

Blank

It’s been a while….

I don’t know what to write. I feel…a bit blank.

We’re in limbo land again. Waiting for news on a surgery date *. Waiting for news on the NICE/NHS England decision.

And in the meantime, even in a world where I am used to seeing dead or dying children on my Facebook feed, it has been an out of the ordinary week. Seven MPS children have passed away in one week. Seven families are now looking at an empty space where their beloved child was.

I didn’t know any of the families personally – most were living with MPS III, so I didn’t have as much contact with them – yet I have seen photos of some since my early days on the Facebook group. Each death hits our community hard and they will be mourned around the world.

There are still families fighting on though. Families who need the hope of a cure and the knowledge that future treatments will help their precious children.

The government’s own Rare Disease Strategy, published in 2013 states it should “ensure no one gets left behind just because they have a rare disease”. This is one thing I believe they could get right. If you haven’t already, please consider signing this petition to help it happen.

 

* We did get some slightly better news about Pudding’s clinical trial. Last week I was concerned that we had had ten months of wasted blood tests, hospital trips, and so on. Ten months of normal life being interrupted by medical stuff that we have forced him to submit to. However, having checked his CT scans the neurosurgeon confirms that although the portacath is now in the wrong place he believes that Pudding will still have been receiving  at least some of the dose in a roundabout way. He won’t be given another dose though until the portacath has been revised.