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