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

Clinical trial – a year on

Monday and Tuesday we were in Manchester again. It is the end of Pudding’s first year on the clinical trial that aims to halt the progression of Hunter Syndrome in his brain. So he needed to go for an MRI scan and lumbar puncture under general anesthetic.

It’s IMG_20170109_180120been an emotional journey of course. First there was the decision to enter the trial when the potential good had to be weighed against the negative implications. There was the major surgery itself meaning the placement of a portacath into his spinal cord. The first few months when he reacted with sickness, and then the gradual easing of tension as the reactions were brought under control. The waiting game as we wondered whether it would help him at all. And the slowly dawning hope that as he approaches his fifth birthday there is no sign yet of him losing skills. Indeed he seems to be gaining them.

It is little things. Things that other parents would hardly notice. Like me asking him to turn on a light that was beside him and him doing it. Like me saying ‘good building!’ as he played with his blocks and him responding ‘da dyu!’ (his version of thank you).

So although the results of this end of year MRI scan won’t be available to us, I’m pretty sure it will be positive. Enough boys with Hunter Syndrome have now been recruited onto this study and while we wait for them all to complete the trial year, Pudding will join others on the extension study. They continue to receive the monthly doses but with less regular blood tests, ECGs and so on – something both Pudding and I will be very happy about.

At the end of this calendar year, Shire (the pharmaceutical company who developed this drug) will be putting the numbers together and starting the process of getting it approved as a treatment.

I should be feeling positive.

Yet my newsfeed has been filled this week with stories of an NHS in crisis. Not enough beds, not enough doctors, not enough money to treat an increasing number of patients. With these sort of pressures who is going to sign off an eye-wateringly expensive new treatment?

Right now I should be filled with campaigning zeal. I should be writing to my MP and demanding to know what can be done to save the organisation that could save my child’s life. But I know what the response will be. The NHS is ‘very important to us’. ‘We are doing all that is necessary’. Health funding is at ‘record levels’.

It shouldn’t stop me, I know. I shouldn’t let the sense of powerlessness take over. But I just…right now, I just…can’t…


I am finally allowing myself to believe that this clinical trial is working for Pudding. Although I have seen the results that other boys have achieved, I have until now always had to remind myself that:

a) a trial is exactly that. A trial. What works for some may not work for everyone and that is why they have to test it out.

b) at the time of testing Pudding had almost the lowest possible score that would still allow him to go on the trial. With results that unpromising I had no idea whether this would effect what we could expect from the drug.

The natural course for those on the most severe end of Hunter Syndrome is for progression until some time around age 4 or 5, and then a time when skills plateau before being gradually lost. This is because the normal enzyme replacement therapy that Pudding now receives weekly doesn’t cross the blood brain barrier to work there. In the hope of stopping this regression, every  four weeks we make a trip to Manchester for a concentrated form of this enzyme to be injected into his spinal fluid to break down waste products in his brain.

Since very early on, Pudding has always continued to develop and improve, albeit very slowly compared to others in his age group. Lately it feels like his rate of progress is making a little leap, and as he gets closer and closer to his fifth birthday we have to see that as a good sign.

Most of his achievements might not seem very much to another mother of a four and a half year old, but for us they are massive. As well as continuing to add to his vocabulary, his understanding is continuing to improve. For instance, when playing ball the other day I told him to ‘Stand further back’. I had to work SO hard not to accompany it with a gesture as I wanted to check whether he understood without. And he did.

IMG_8134He can now almost finish this set of jigsaws without any help; he picks out all the bits correctly and only struggles with putting together the three-piece police helicopter. (He is also often very insistent that the policeman drives another vehicle, but I’m not going to argue about that one!)

His ability to compromise is also improving. Rather than just stubbornly demanding TV he can now sometimes be encouraged to help tidy up first.

He has got used to lots of new routines at school and has even in the last few days been able to pick out his name from amongst all the other children’s. (Not something I’ve been able to recreate at home, but again we can’t have everything!)

So I should be feeling nothing but pride in his achievements and relief, right?


Part of me (a small part) doesn’t really want the trial to work. I can hardly believe I’m actually writing this. What an unnatural parent I must be to wish away my child’s chance at life. But much as I feel bad for this I can’t brush my emotions under the carpet and pretend I never have them.

The truth is, if the trial doesn’t work then I won’t have to live with the fact that we have this chance when others don’t. Others who didn’t pass the screening, or for whom it came too late. Others like Ethan who I was so happy to meet only a few weeks ago but who is currently having a hard time of it. Other mothers’ sons all around the world who deserve a chance too.

I know that allowing my child to suffer will not alter the suffering of others, so of course we will continue on this path. I hope it is proved to work. I hope the NHS will accept it as a treament. But I will continue to feel guilty about it.

So I ask of you, please celebrate with us when things are going well, but don’t forget the rest of our MPS family. I’m grateful for this trial, I truly am, but it is only a stop-gap. A far from ideal solution. We need a cure.

I wish I could see the future

So, I haven’t written much lately.

The reason? I’ve spent much of the last three weeks feeling angry and disappointed and downright scared about the future. Bear with me – I’m not wanting to be contentious here.

I believed very strongly that we would be better off staying in the EU. I recognise that many people also had valid reasons for believing the opposite, and I don’t think this is the place to argue about those reasons. However, by avoiding writing about it, I’ve tied myself up in knots thinking about it instead. This blog has been where I’ve vented and sorted through my thoughts for the last year, and although this vote seems unrelated to our journey through the trials of MPS, for me it’s not.

The truth is, we’re reasonably well-off and Hubby is in a good job which is unlikely to be affected by all this turmoil. If it wasn’t for Pudding, I probably would be able to set aside my worries and just move on.

We’ve been told that there is bound to be some economic uncertainty for a while but that we’ll be better off in the long run. But I think the vote couldn’t have come at a worse time just as we are (very slowly) recovering from the global economic downturn. If the last six years are anything to go by it is those on the margins of society that will suffer the most. And that includes the disabled population of this country.

Earlier this year the government had to back down on cuts to disability benefits, and this was hailed as a success. Yet the news from those who are continuing to fight for these payments is still worrying. I fear what further cuts are coming, whether directly or by the back door. And I fear that we have a government in place that cares little for the human rights of those affected.

Pudding after opMainly though, I worry about the NHS. It’s clear that there won’t be a massive injection of cash in the years to come. Will there be less funding? And more pressure on staffing levels? And where does that leave us? Pudding already receives one of the most expensive drugs in the world every week as his enzyme replacement therapy. The trial drug that he is currently on is likely to have just as jaw-dropping a price. Even if it is proved to be a success, a health service strapped for cash could easily decide not to fund it. I understand that difficult decisions will always have to be made, but this is my precious son.

When we first heard the news that Pudding had the severe form of Hunter syndrome we were devastated that he would not live beyond his teenage years. For a while we couldn’t even imagine the possibility that he might still have a future. The clinical trial has given us hope again, and I don’t want that hope to be taken away.

This is a situation where I would truly love to be proved wrong.