Control

I’ve not written a ‘proper’ blog post in ages, and it’s not for lack of stuff to write: I’ve started this particular post a number of times but it never quite comes out how I want. When I started this blog in 2015 soon after Pudding was diagnosed, the words poured out of me. All the fear and guilt and anger and devastation just had to make it onto the screen in any which way. I barely even had to think about what I was writing, whereas now…things feel more complicated.

This year so far has been one of contrasts. After a very stressful first few months we had a great summer, and I think it can be summed up with one word. Control.

I remember reading an article many moons ago about stressful jobs. It may seem counter-intuitive, but it was saying that the most stressful work wasn’t what you might think. It wasn’t necessarily those in high-powered careers who suffered the most, but those people who had the least control over their work environment. The people who have to react to what’s thrown at them with little or no control over their situation.

Over the last few months I’ve come to realise that this what many of us go through when parenting a disabled child. Before anyone gets upset with me, I don’t mean it’s the child themselves that is the problem. It’s all the other things that impact on our lives  – the lack of accessibility, the fight for support, the forms, the waiting for school places and the never knowing what the future will bring. The control that politicians, budget-holders, pharmaceutical companies have over our children’s lives. That knowledge that your precious wonderful unique child is, to them, a figure in a spreadsheet or just another service user.

When I was writing one of my updates on Facebook recently (come find us here if you haven’t already!) I used the word trauma and then wondered if I was being guilty of over-exaggerating. But actually I don’t think I was – consistent lack of control over your situation IS traumatic.

I never know much about what Pudding is thinking, but it’s pretty clear that the same is true for him. When he can decide where he’s going, or what he does – when he is in control – he is happy.

OLYMPUS DIGITAL CAMERAFor us, the main issue has been Pudding’s health. Not his health now (anyone who sees our photos and videos knows that despite his life-limiting diagnosis he still remains ridiculously healthy) but what is to come. We’ve known since February last year that his body was producing antibodies against the enzyme replacement treatment. Yes, antibodies against that very treatment that is meant to be keeping him alive.

We had to make a difficult decision about whether to go ahead with immune modulation drugs which could result in side effects or increased risk of serious infections. There were also other considerations that had a huge bearing on our decision that I still don’t feel able to talk about. All I can say is that it was a time of agonising changes of mind. How to make important choices on not much information? How to keep going when other people hold all the cards? How to know that we’re doing the right thing when any impact could take years to show what the true benefits have been?

In June we went ahead with the immune treatment – four visits to Manchester over two weeks (four injections and two infusions). Pudding was of course a star, taking even more medical interventions in his stride despite not liking them. Then the waiting started.

The summer has been almost a honeymoon period. With plenty of respite in place for Pudding allowing us to concentrate on fun things with T, and with hope that Pudding’s future was a bit more assured, I felt like I was back in control.

But that assurance is starting to wobble again. Latest results from blood and urine tests have not been very positive and more decisions will be needed soon.

 

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!

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.