It’s a big day tomorrow – screening starts to see whether Pudding is eligible for the clinical trial.
So what’s it all about? Let’s see if I can explain it clearly; it’s difficult sometimes for me to use layman’s terms seeing as I understand much of the medical speak already.
The manufactured enzyme that he is currently getting through weekly infusions has been doing a brilliant job; circulating around his body and chopping up the long-chain sugars so that they will no longer be building up in his organs and joints. Unfortunately, one of the body’s really clever protective mechanisms, the blood-brain barrier, is designed to stop dangerous toxins and infections from passing into the central nervous system (CNS). This means that the Elaprase he is getting into his bloodstream (via IV) is also prevented from entering the brain, and any deterioration there is not being addressed.
The trial of intrathecal (IT) Elaprase aims to get around this problem by introducing a much more concentrated form of the enzyme directly into the cerebrospinal fluid using another portacath. Unlike the one which Pudding already has for his ERT, this port is inserted into the membranes surrounding the spinal cord. IT Elaprase would then be given through this every month. Those who are randomised to the non-treatment arm of the trial would have some of the same assessments, but no port or treatment for the first year, after which they may be eligible to join the extension study. Again, this is a treatment rather than a cure, and would therefore need to be continued for life.
There has already been a Phase I of this trial, and whilst some boys have seen a halt in deterioration of their symptoms, and even improvements in brain function, not everyone fared so well, particularly those who were further on in their disease progression. So for this next phase of the trial, the inclusion criteria have been made much stricter. There are a number of physical criteria but the main stumbling block is for the neurological side. They do an assessment to look at the child’s developmental age compared to their chronological and will reject those with a score that is too low.
Many families have already had this rejection and have been devastated by the removal of this hope for their boys. My heart goes out to them and I know we may face this ourselves tomorrow. But to be honest, I’m not sure how I would react.
Yes, we’ve decided to go for the trial. How could we not, when the decline and death of boys with Hunters is so certain? When other families went through a clinical trial to bring about the medicine that he is on now? When it may help other families in the future?
But it is by no means an easy decision: more trips to Manchester; more interventions; more general anaesthetics; more potential, and very real, risks – with the port, with the treatment itself; more unknowns….
As the consultant said to us, one of the other risks is that all these interventions take time away from the simple enjoyment of family life during a period when he is relatively healthy and still making progress. And it also comes just as I feel I’ve reached some sort of peace with it after the last horrible six months.
It’s all bloody scary, and of course I feel guilty for my ambivalence about him getting on the trial. Though I know I shouldn’t.
What would Pudding choose if he had the understanding to make this decision? We will never know. Perhaps all we can hope is that some day he may be able to tell us we did the right thing. And short of a sudden breakthrough in gene therapy, our only chance of that is in this trial.