End of an era

Back in July 2015 I held my newly diagnosed son down as a needle was put in his hand and then watched in awe as liquid magic was pumped into him. A synthetic version of the enzyme that his body was missing. A treatment that would start clearing up all the waste products that had, unknown by us, been building up since he was born. Amazing science that would give him more energy, less pain, a more normal life.

He has had this four hour infusion every week since – almost six years – with only a few exceptions for holidays or when he was sick.

On the 7th May I will hold him again and watch as he receives his last one.

You see, when I wrote last week about an email from school making me cry, I wasn’t being entirely honest. Yes, it did catch me by surprise, but the reason I was vulnerable right then was because I was waiting to speak to Pudding’s consultant via a video call and I knew what was coming next.

A while ago we had some difficulties with Pudding’s portacath during treatments – the pressures were ridiculously high, almost to the level where the pump would simply stop working. So we were having to think about what we would do if things got worse. As always, it’s hard making decisions without full knowledge so we got some blood and urine samples taken.

The results were back and I knew it wouldn’t be good news.

A close up photo of boy with curly hair with his thumb in his mouth. He is not smiling.

We’ve known for ages about the antibodies he’s developed that work against his enzyme infusion (that’s why we withdrew him from the clinical trial back in 2019) and all the outward signs have been that the weekly treatment was no longer doing what it was supposed to.

Last week we got the confirmation. The waste products in Pudding’s system are now 4 times higher than the top of the normal range for his age. (At diagnosis they were 2.5 times higher than normal, and they should normally come down as we get older). And in ideal test-tube conditions, only 10% of the treatment will be getting into his cells.

Although we have not been doing any harm continuing to give him weekly ERT, we can pretty much say with certainty that we are not doing any good.

So, it’s time to stop the needle pokes. Time to wave goodbye to the massive box of medical supplies. To free up space in the fridge and let my salad drawer be full of salad rather than medication.

I know that it’s not going to change anything for Pudding (other than another day back at school each week). The really hard decision was withdrawing from the trial which was intended to be a life-saver. All the ERT has ever been since, is a way of helping him feel more comfortable. But that doesn’t stop me feeling all the feels.

The end of an era.

Theory vs Practice

This week I got an email from school that made me cry. It was nothing nasty, nothing insulting, but quite the opposite. Written kindly and sensitively just as I would expect from this lovely place. But it really took me by surprise how I reacted.

Earlier in the day I’d spoken to a continence nurse for our first appointment since the service had been reallocated to the children’s centre. She was looking at Pudding’s details and trying to get a proper picture of his toileting needs. As part of that she of course asked about his diagnosis.

As usual, I reeled off the top-line facts about his Mucopolysaccharidosis Type 2: that we had no idea until he was 3; that his body can’t get rid of certain sugary waste products and so they build up; that he’s currently in the stage where he is losing skills; that the prognosis is not good. And as usual I heard that small shocked silence while the person on the other end of the conversation finds a kind and appropriate response.

I’m an old hand at these conversations. I’ve had so many of them. Maybe I come across as callous or uncaring when I give out these facts in such a matter-of-fact way. But the truth is, when I am saying these things I’m not talking about my son.

All these horrible facts describe what will happen to a theoretical boy and at a theoretical point in the future.

Oh, I know that’s not strictly true. I’m not really burying my head in the sand about what will happen to my gorgeous boy. I know that we are losing him to this horrible condition. But I guess that in a way I have learnt from the best teacher in the world. Him. I’ve often written about how Pudding lives in the moment – happy or unhappy with what’s there right in front of him, and no understanding of what will come in the future. It’s a good way to be sometimes.

So what about that email from school? Pudding has up until now been in an autism-provision class as he has had many similarities with these children – the need for structure and routine, and a sensory semi-formal curriculum. Even very recently I had wondered how long this would be suitable for him given the changes we’ve seen lately. But that was theoretical, my own private musings. The email confirmed my thinking and brought it into reality.

Practice feels much harder to deal with than theory.