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.

Sleep (again)

So, any regular readers will have been waiting on tenterhooks for an update on how Pudding’s move to his own room went and whether we’re getting any sleep. Or, more likely, will have completely forgotten about it….

After a massive clear-out of the office (which has now taken over our bedroom), Pudding moved in just before Christmas. The change didn’t seem to phase him at all, though I discovered that with his door directly opposite ours he sounded even louder at night. We waited until after Christmas though to take the cot sides off, and I am very glad we did.

When T graduated from the cot we did all the usual things. We chose new bedding, we talked about how he was going to be in a ‘big boy bed’ now he was growing up. It was an exciting time. But with Pudding it was different, as of course everything is.

When a child has communication problems and little understanding it is far more difficult to prepare for a change. I had no idea whether he would take it in his stride or whether it would throw him completely. Turns out it was the latter.

I suppose that having been in a cot for almost 5 years, apart from a few nights in a hotel room with me, it was quite a reassuring space. To suddenly have that security taken away rocked his world. He understood straight away that he could climb out of bed, and he did, finding it far more distressing that he was going to be left in the room by himself.

Every so often, like when we have the hour change in spring or autumn, he has found it more difficult to settle at night. At those times we’ve simply had to stay in with him until he fell asleep, only for a few nights, and I expected this time to be the same. It was a much slower process though: sitting by the bed with him on my knee to read stories, turning the light out, persuading him to get into bed, staying close by and talking or singing until he was fast asleep. Time consuming but totally worth it to save him from as much stress as possible. Gradually, gradually this has changed and I can now get him into bed, look at a book, turn the light off and go straight out. (On nights when it is Hubby’s turn, Pudding still has him wrapped firmly around his little finger though!) Dropping nap-time completely has helped too – he often can’t keep his eyes open much past six thirty now.

His distress was of course tough to deal with. What mother enjoys seeing their child in tears? However the worst aspect was that it brought on a period of separation anxiety at the start of the school term. Whilst previously Pudding had run in laughing to give his TA a hug, all of a sudden he was clinging to me and crying. This I found very hard and was one of the contributing factors to my low mood last month. But again, with the help of his TA (who became very good at pretending to hide from him) we’ve got through it and out the other side.

Strangely enough, the thing I was most worried about – him getting out of bed at night – hasn’t happened at all. As long as it’s still dark, he has stayed in bed for his nightly partying. We’re not taking any chances of course; he has a very stiff door with a stair-gate on the outside of it.

I’m just not looking forward to those summer mornings when it starts getting light really early…  Knock, knock, knock. ‘Mum-meee! Muuuuum-mee!’

 

 

KEEN

I don’t often think about my time at university. Hey, it was so long ago now that I can barely remember it anyway! Yet recently something has happened to take me back.

Oxford twenty-five years ago. At Freshers Fair I came across a stall for KEEN – a student-run organisation that put on sporting and other activities for disabled children (athletes). I thought it sounded like a ‘good thing’ to do and signed up. I was pretty nervous at the first session I went to. After all, what did I know about interacting with disabled people – I was petrified about coming across as patronising to those with physical problems and worried that I wouldn’t understand those with learning difficulties. I thought the parents would be watching me and judging me badly. I have to admit that nervousness never really went away. I kept on volunteering and even ended up on the committee. In the sessions though I tended to gravitate towards working with the more able athletes.

The format  designed by KEEN Oxford has spread to a few other places and we’re not far from one of them. Little did I realise all that time ago that I would end up taking my own child to sessions run by this fantastic organisation.

The boys and I went for the first time a few weeks ago. We were the first to turn up so arrived in a room full of students all ready to welcome us. Once Pudding had established that there were lots of balls and people willing to play with him, he was of course in seventh heaven. T too loved the attention, and was happy to beat a student at football by 40 goals to 3. Squeaky flashing balls with the lights turned off was even better.

Two happy worn-out boys, two rested parents, no TV for at least half an afternoon. A definite win all round.

I don’t know if any of the student helpers have the same hang-ups as I did, but watching them I only see enthusiastic youngsters full of energy, with so much to offer these kids. And oh, I am grateful for that!