Rare Disease Day

Today it’s Rare Disease Day and the focus this year is on research. As some of you will know, rare diseases aren’t actually that rare. One in every 17 people will be affected by a rare disease at some point in their life. Every treatment that has ever been made available for any disease is as a result of medical research. Yet for those living with rare diseases (sometimes known as orphan diseases) treatments just aren’t as easily found as research is more costly when it can’t be offset against a large patient base. On the other hand, research into rare diseases is a real trailblazer and can bring about new options for other conditions too.

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Some rare diseases are wildly different to Pudding’s diagnosis of Mucopolysaccharidosis (Type II – Hunter Syndrome) and some are much closer. Today I want to tell you about Batten Disease – one very similar to MPS. You’re probably wondering why. After all, this is a blog about Hunter Syndrome and how we’re living with it on a day to day basis.

Well, there was a family on This Morning the other week, and they are living our future right now. Watch it, and you will see so many similarities with our situation: like MPS, Batten Disease is a genetic condition caused by a missing enzyme; children seem healthy at first and are often not diagnosed till around the age of 3; they slowly lose skills such as the ability to talk, walk or swallow; and parents face the agonising fate of watching their children die too early. Way too early.

Like us, this family managed to get their children onto a clinical trial and have seen the drug stabilise their loved ones and even allow a little progress. Unlike others now and in the past who have not received this treatment, these children have a chance at life. Yet NICE have now decided not to make this treatment available in the UK. And there is no way that any individual could afford a drug like this.

This could be us in a few months time.

I know people will, and do, say things like ‘The NHS doesn’t have unlimited funds’, and I understand that. I really do. (Maybe I’ll address those sort of arguments in a future blog.)

But this is the reality of Ultra-Rare Disease. Research is needed so badly, but it is a double-edged sword.

Just imagine it, if you can. Your lovely son or daughter is diagnosed with a life-limiting disorder. You deal with this devastating news however you can. Then you are given some hope – a research trial results in a treatment that is keeping children alive. Yet, because of the country you live in, your child will not continue to receive it. There is a treatment available. But not for your child.

How would you feel?

You can help them by signing a petition asking for this drug to be made available. Please do. You can also follow their journey on Facebook at ‘Ollie’s Army Battling Against Battens’.

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!

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!)

Paperwork and assessments

Paperwork. Every SEND parent’s favourite thing. NOT!

Endless pages of assessments that never really become easier. The joys of having to answer ‘No’ to question after question about everyday skills that any unaffected five-year-old could do with ease.

When Pudding first entered the clinical trial his DQ (development quotient) score was 56 (so 56% of what another child his age would get). That put his abilities at around half his actual age. Two years later I don’t know what it would be now. He’s nearly six and I often describe him as functioning like a two year old, but although that’s true in some respects it is way off in others.

The last few weeks I’ve been filling in information for the Imagine ID project. This large-scale study aims to collect data from families on how genetic conditions affect development in children. I’m not complaining really, because it is something I have chosen to do – research is important. But I must admit it doesn’t always put me in the best of moods having to face up to the realities of Pudding’s abilities.

Some of it was pretty straight-forward – other questions not so much. For instance, it’s pretty difficult answering a question like ‘Does he blurt out answers in class more or less than other children his age?’ when he is non-verbal! And I’m not quite sure it’s worth getting him to do the ‘fun drawing task’ as it will just be a scribble.

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Anyway, I’ve now had the report through and it confirms (if I didn’t know already!) that he scores high for troublesome behaviour, attention difficulties and sleep.

And then we have also had the review meeting for Pudding’s EHCP (Education and Health Care Plan). This is a document that sets down what a child needs to have put in place to help them succeed at school. It is certainly more positive than some forms (yes, DLA form, I’m looking at you!) as it looks at what he has achieved alongside setting targets for the next year. For instance, this time we were able to put a tick next to ‘Can take his coat off’!

But again, it can be a bit brutal facing reality. The educational psychologist had been in to assess him and I was asked for permission to change the way Pudding is described from ‘moderate learning difficulty’ to ‘severe learning difficulty’. The teachers did apologise when asking this, as they were concerned about how I would feel. Looking at the descriptions though, I know it makes sense. When Pudding was first diagnosed he was at playgroup and his differences weren’t quite so obvious. As time goes on, he is progressing but at a far slower rate than his peers, and that gap is widening and widening. So that’s another label he’s acquired.

And on Tuesday it’s our next trip to Manchester with …guess what… the psychological assessments again!

But of course, none of these assessments will ever truly give a picture of Pudding is like. They can tell someone that he is non-verbal, prone to violent outbursts or that his DQ is hitting new depths. But they can’t tell anyone how gorgeous his smile is. Or how he does a funny little dance when he’s excited. Or how much we love him.

Which is why I’m getting better at looking past those forms and reports. And instead I keep in my mind pictures and memories like this morning when T went upstairs to get Pudding up. I watched on the monitor as my big boy sat on his brother’s pillow and gently stroked his head, telling him that he’d put his cereal out ready. I watched him bend down and kiss Pudding and help him turn the duvet down. And I knew that these little moments are what life is really about.

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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.

The necessary

We’re back in Manchester again. Clinical trial dosing day. Sometimes it seems to come round really quickly. And today I really didn’t want to come.

Pudding watching TV in the hospital playroom

There’s a bug doing the rounds at the moment. Pudding had it last week and very kindly passed it onto me. It wiped me out completely on Friday (Hubby said that he knew I was ill as I wasn’t even going on Facebook) and I expected to feel better the next day. But I didn’t. Or the next day. Or Monday. No awful symptoms, just feeling bloated and spacey and draggingly tired.

The thought of setting off on the train and spending a long day in hospital today was about as welcome as…well I’m sure you can think of something. I checked with the ward hoping that they would say not to come, but they didn’t.

A couple of people asked whether I’d be better just staying at home and missing the dose, and oh I was so tempted. But I couldn’t ignore that little voice in my head. The one that reminds me how important this treatment is. The one that whispers how lucky we are. The one that warns we may not have too many other doses left to us if it doesn’t get approved or funded.

So I’m here. And coping.

We do what we have to, don’t we? All parents do. We get out of bed. We make sure they’re clean and fed. We nag them about homework. We stand by the side of a pitch in the rain. We travel across the country. And we hold them down for needles. Our own needs sometimes just have to take second place.

We do what is necessary.

Optimism

Two weeks ago we had a meeting in Manchester with the team that co-ordinate Pudding’s care. It was strangely relaxing in a way to drive over there outside of rush hour traffic, in beautiful sunshine, and knowing that we weren’t facing any needles or treatment that day.

We gathered in a room – me, him, the consultant, the doctor running the clinical trial and his specialist nurse – to talk through how things have been going over the last year. There are a few small concerns that we’ll look into; Pudding has been getting very tired again lately, sitting down to rest more often and having more naps. But overall, his weekly enzyme treatments seem to be doing the job of keeping his body working a little better.

We’ve had a blip with the clinical trial of course, meaning that he missed three doses of the enzyme into his brain. The operation to replace that portacath went very well though, and we are now back to the monthly routine of trips to the trial ward.

Pudding in a stripey black and white top looking directly at camera, unsmiling.Pudding is very slowly continuing to add to his vocabulary and make progress in small ways. I was able to tell them how recently he got a snack out the pantry which I’d accidentally left open and then put it back when I told him!!!! (This is huge, people!) Throughout most of the meeting, Pudding was sitting beautifully in his buggy and playing games on his tablet. The consultant commented on his concentration levels and said that in the normal course of Hunter Syndrome he would expect increased levels of hyperactivity by now. Overall therefore, he was ‘cautiously optimistic’ that the trial meds are working for him.

That’s good, right? So why do I not feel more…optimistic?

So many feelings continue to battle inside me. After the meeting I sat in the coffee shop downstairs and shared biscuits with my gorgeous boy. I watched children and their families passing by and saw PEG tubes and drip stands and monitors. And I was hit yet again by the thought that this is our reality now. The world where all these medical things have become things that I recognise and barely take a second glance at. The world that many people are blissfully unaware of.

Even if Pudding continues to do well on the IT medication it’s just the beginning. The treatment would need to get approval, we would have to fight for it to be funded. Gene therapy may become available and halt the progress of the disease even more effectively. And we continue to hope for all that. But I also have to bear in mind that Pudding will always have MPS – when looking for a new house I still need to think of future-proofing it. Would there be space for a downstairs bedroom or lift? What would wheelchair access be like?

Perhaps when it comes down to it there’s also an element of defence mechanism in my lack of optimism. If I continue to remember the worst outcome, then my world cannot crash too far.

I would so love to have a crystal ball. To look into it and take away the uncertainty. But of course we don’t. So in the meantime we continue learning to live with MPS. And we continue to love our little boy who is beating the odds and teaching us to walk through this world on a slightly different path. Despite how miserable my blog posts can sometimes be (sorry!) this path has many beautiful moments on it – smiles and laughter, wet kisses pressed onto my cheek and satisfying armfuls of chubby cuddles.

I may not be hugely optimistic about the future, but that doesn’t mean I can’t enjoy the present a lot of the time.

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