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.

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.

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.

 

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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.

 

An end to hope?

I like being right. Most of us do, don’t we?

Yet there have been a few too many times in the last few years where I have hoped, desperately hoped, that I was wrong.

When our paediatrician first mentioned mucopolysaccharidosis to us, I of course googled it. I saw pictures of other children with this progressive disease and I read the symptoms and I knew this was the answer as to why my Pudding was not reaching his development targets. I hoped I was wrong, but I was right.

He started on weekly enzyme replacement therapy to halt the build up of waste products in his body and we gradually got used to our new normal.

They checked his DNA to see whether he was likely to have the severe form. I had done my reading and I knew that those on the milder end of the condition rarely had development delay. I watched my son having reactions to this new enzyme in his body, I tracked every struggle and his difficulties gaining new skills. Deep down I knew that he had the severe form that meant a gradual loss of skills – the ability to walk, talk, even to swallow. And death in his teenage years. I hoped I was wrong, but I was right.

Pudding got on a clinical trial for a new form of the enzyme to help his brain. It has already halted the disease progression in a number of boys and we knew it would give our son a chance at life again. The drug is delivered by a special portacath that lies just under his skin and connects to the space around his spinal cord. For a while now I’ve been worried that this wasn’t functioning properly and a CT scan confirmed it this week. The dose hasn’t been getting to where it is supposed to. I hoped I was wrong, but I was right.

Yesterday I thought we were facing another surgery to fix this and I was devastated but today my fears are much worse. Today I heard that from the 1st April, at incredibly short notice, a cost-effectiveness threshold is being brought in by NICE and NHS England for orphan drugs (the name given to drugs that are developed for ultra-rare diseases like MPS). So even after Pudding’s port is fixed, even if the trial has all the data it needs to show success, even if it receives approval by the European Medicines Agency, someone in a suit will decide – based on limited patient numbers and data – whether my son will receive a life-saving medicine or whether we will watch him gradually be taken from us, skill by slowly-disappearing skill.

I have got through the last year by refusing to believe my son will die, and now even that is being taken from me. Writing this has been so difficult as the computer screen keeps disappearing behind my pesky tears that won’t stop coming.

This is not just our story but the story of any family who has been devastated by rare disease. A life-limiting illness is hard enough to deal with. Yet knowing your loved one has a life-limiting illness for which there IS a treatment available which you may not access is harder still.

I hope that if enough people write to their MP in the next few days we can get this decision paused until the impact on families like ours can be properly assessed and considered. Please, please, please prove me right this time.

Update: I have spoken to the office of my MP this morning (Julian Sturdy, York Outer) and he will be making representations to NICE, NHS England and the Department of Health on our behalf. Thank you so much to everyone that has already shown their support. The more MPs that do this, the better.

Further information:

MPS Society press release

Information from the Genetic Alliance

Infusion day

Another Friday, another infusion.

A few people lately have been asking about Pudding’s treatment, so I decided it’s time for a blog post about it! Hunter Syndrome means that he is missing a particular enzyme that goes by the snappy name of iduronate-2-sulfatase. The enzyme would normally clear away waste sugars once they have been used by the body. Without it, the waste sugars build up and cause all sorts of problems. So every week, Pudding gets an infusion of synthetic enzyme to remove the waste and keep things working. This is called enzyme replacement therapy or ERT.

For the first few months we had to travel to Manchester for this every week, but now life is much easier with treatments at home.

8.15am – I put emla cream on the site of Pudding’s port. This is a device just under the skin of his chest that then feeds his infusion directly into one of the veins going to his heart. The cream means that it will be numb in time for the needle later.

8.30 – We drop T at school. Pudding objects because he wants to go in too. He doesn’t understand why Fridays are different.

9am – Our nurse arrives. Once Pudding has rushed to the door and said hello, he starts signing and saying ‘TV’. It’s good that he associates her with nice things, despite everything! She checks his temperature and gives him some pre-meds (paracetamol and citirizine) to stop any reactions to the treatment. He’s not keen on having medicine, so we have to catch him before he can run away.

9.30am – The nurse gets a sterile tray prepared and is ready to access Pudding’s port. I sit on the floor with him in front of me and wrap all my limbs around him to pin him down. As long as the TV is on he’s pretty good these days – gone are the times when we needed an extra person to help hold him. The nurse uses a special gripper needle to pierce his skin and go into the port. It is taped down so that it can’t move during treatment and has a thin tube attached to it that his medicine goes through. Before I can release him we also have to try and get a blood pressure reading. Sometimes we’re lucky and get it first go, sometimes it takes several tries before he stays still enough.

10am – We get the highly expensive, magic enzyme out of the medical fridge. The nurse adds it to a bag of saline so that it can be infused slowly into Pudding’s port. (If it was added in all at once it might cause reactions, and also would be more difficult for the body to absorb.) We have a small electric pump that pushes the enzyme and saline mix through the line at a set rate. When we first started home treatments this was held in a shoulder bag which Pudding refused to wear; we had to hover near him for the whole treatment ready to pick it up and follow him whenever he moved. Not ideal! Now we use a little rucksack – like most aspects of treatment, Pudding is not keen on us connecting the line and putting the rucksack on, but once started it doesn’t seem to bother him.

For the next few hours, Pudding is free to watch TV, play, go outside or whatever he likes within reason. We do have to be careful that the needle doesn’t get bashed as that might mean having to access again – the pump will beep to let us know if there’s a blockage in the line and the nurse checks it every so often.

Noon – A dose of ibuprofen.

1pm – More citirizine. By this dose he tends to give in quite easily and opens his mouth for it even without being asked.

1.50pm – The pump beeps to let us know that the saline bag has finished. The nurse puts on another bag to flush any enzyme that is still left in the line.

2.10pm – The flush is finished and we can disconnect the line and take off his rucksack. I have to get back into position on the floor for de-access. First there is an injection of heparin into the port to prevent any blood clots inside it before the next infusion. Then it’s time to remove the needle. Probably his least favourite part is having the dressing peeled off. More paracetamol. Another blood pressure. And we’re finally done. The nurse finishes off all the paperwork, and Pudding ‘signs’ it off on the tablet.

Just in time to head off on school run again.

It’s not the life I would have chosen for him of course but it’s our routine now. I enjoy having a chat with our lovely nurses and getting jobs done round the house. Pudding gets lots more TV than usual and sometimes extra snacks as well. And I am so grateful for this man-made enzyme pumping round his body and unravelling some of the effects of Hunter Syndrome.