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.

6 thoughts on “End of an era

  1. Joanne Dacey

    I am mum to a 26 year old with Hunters who has learning difficulties but was deemed to have capacity to refuse treatment nearly 2 years ago.
    (We were on the original elaprase trial in Manchester 2002)
    He said it wasn’t any good and doctors can’t help.
    Our story is a long one but the upshot is that we are now watching a rapid decline in his mobility and have sleepless nights listening to his laboured breathing.
    We also have to manage his anger and frustration at his situation and his lack of insight to accept help.
    Me and his dad deal with things differently but I know we are both wondering when his discomfort, and our constant stress and anxiety, will be over but don’t know how we are going to live with heartbreak afterwards.
    I have pushed back all input from other families and the MPS society. (Denial I guess)but reading your blog has really resonated with me.


    1. huntersmum

      That must be incredibly hard for all of you. I’ve often said that in a way I’m grateful that Pudding is unaware of everything. I try to make the right choices for him and hope that I am choosing what he would, but I will never know. And also he can never challenge that.
      Your comment has really touched me and I want you to know that you don’t have to do this alone. I don’t want to intrude but if you ever feel the need to talk things over, do please let me know on here and I can email you.
      Sending much love.


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