Christmas

I’ve always loved Christmas. A time to enjoy family along with good food, games and laughter, and of course, presents – giving and receiving.

This year, it was particularly appreciated. We certainly needed that break from the weekly grind of treatments and bad news. We shared Christmas with my sister again (which meant that we brought a few things over to their house where they hosted and did everything else) and my parents came down too. Pudding duty was therefore shared out among more adults (and niece and nephew) and we could relax a little more than usual.

HulaAnd what did he make of it? Not sure! He loved joining in the ritual of handing out the presents from under the tree. Though if he’d been solely responsible, there would have been some very confused recipients. He wasn’t too bothered about opening presents himself, but was very taken some of them  – greatest hits were a whistle in the shape of a train, Mr Tumble’s spotty bag, and a giant gift bag that he could climb into. But his favourite thing by far was having everyone around; to cuddle, to chase, to play hide and seek with and show off to.

Family is a big thing for Pudding too – something I’m glad I share with my son.

Happy Christmas everyone!

Holiday

After all the emotion last week, I thought I’d come through ok.

Then on Monday while shopping for a picture frame, I had a phone call from the Healthcare at Home manager. She said that given Pudding’s reaction last time, she wasn’t happy with his next ERT being done at home. Whilst I understood her position – she has to consider the safety of her staff who would feel responsible if anything went wrong – I was devastated. After 3 weeks of home treatment it was being taken away from me again.

I knew that it would be difficult to arrange the transport to hospital at such short notice, so I’d have to drive again. And I still had other things to do two days before Christmas. My first instinct was just to say we won’t go. But that felt so selfish. Of course, I just ended up sobbing in the middle of the shop.

When I got home, our specialist nurse from Manchester rang. She knew exactly how I was feeling. She said they’d look into getting transport sorted, but that it would also be difficult to get the Elaprase in time. Given that it has to be kept refridgerated, I’m not meant to bring our own supply from home. She raised the possibility of having a week off treatment but wasn’t sure if it would be clinically advisable for him at the moment, so needed to check with the consultant.

Ten minutes later, she rang back again. We have a holiday from ERT this week, and will go in on the 29th instead. Best present ever!

Still here

It’s been almost a week since I wrote on here. Not that there hasn’t been things to update, but more that I was at a loss about how to write them. Having felt so much happier lately, I didn’t want to ‘spoil it’ by writing when I was in the middle of a downer. Which is silly really – I started this blog to act as a warts-and-all diary dump of what we were going through. To capture the ups and the downs of a life with Hunter Syndrome. I shouldn’t feel ashamed about admitting to those downers.

Pudding’s second general anaesthetic didn’t go too badly. We were based in the Clinical Research Facility ward, so had more personal attention than on the general list, which always helps. And there wasn’t much invasive work being done, so I was a bit more relaxed. But there is still an emotional toll to pay. Knowing that I would be driving home the next day, I chose to use the hotel room that the study had paid for. Just as the taxi was called, Pudding threw up  – not unexpected after the last time. I knew he’d be ok, with the nurses and Hubby there. But after the taxi ride (marked by a distinct disregard for the use of brakes) I cried in the hotel room.

At home on Thursday we started his ERT later than usual as it was the Christmas party at his playgroup. All went reasonably well at first. After a bit of a struggle he did go to sleep on Hubby while I did the school run, but when he woke up at the end of the infusion he wasn’t at all happy. The TV went on of course but it wasn’t helping. I made him an omelette for tea (his favourite) but he only ate a few bits that I fed to him, and the high-pitched whinging wouldn’t stop. He then vomited again, but rather than make him feel better as it usually does, he carried on crying. As this went on longer the nurse and I were both starting to get worried, wondering whether it was a reaction to the lumbar puncture.  After speaking to the on-call metabolic consultant, I was about to head out the door to A and E. At this point, after an hour and a half of crying, Pudding suddenly said ‘Du!’ (for juice), picked up a piece of bread and started eating. The relief was amazing.

Five minutes later, our consultant rang and dropped the bombshell – after a reaction it’s usual to have to do the next infusions in hospital again… I had already been feeling emotional that morning, but that opened the floodgates again.

I cried.

I cried the next morning when Pudding hit me in the face and I wanted to hit him back.

I cried while Twiglet comforted me.

I managed not to cry at school drop-off.

I cried when Pudding was miserable on the way to playgroup.

I cried when I got back to a messy house.

I cried when my sister sent a message telling me to come round for a bath.

I cried when I got there.

I cried during our Portage session.

Yes, I know. It was a lot of tears. Probably over-due!

But I’m back on an even keel again now. We’ve had confirmation that our next ERT can still be at home, with a bit of an adjustment in the meds again. Pudding is almost certainly on the clinical trial (they just need to double-check his DNA to make sure the genes either side aren’t badly affected).

And I am looking forward to Christmas with my lovely family.

Food

So today it’s the second part of the screening process for Pudding to get onto this clinical trial. At about 6pm this evening he will have an MRI scan and lumbar puncture under general anaesthetic. (Hopefully they’ll also fit in a little look at his eyes which is one of the general baseline health checks that they haven’t yet been able to get done since diagnosis).

So although I’m not as nervous about this as his first operation I’ve got lots of things going around in my head. Will he feel sick again afterwards? Will we be able to keep him from sitting up after he comes round (and therefore avoid the bad headaches which are common after lumbar puncture)? Will the results be ok to get him onto the trial? And so on.

And what will Pudding be thinking about? Food. Always food. He finished his lunch at 11.30am and won’t be able to eat now before the operation. I know it’s probably difficult with any child having to keep them away from food for six hours before an operation. A child with limited understanding makes it even more difficult. And a child with Hunters Syndrome, who seems to think that food is the be-all and end-all of existence brings the challenge to potentially epic proportions. If I had a penny for all the times I heard a plaintive ‘Ungry!’ during a normal week, I would be rolling in it, that’s for sure.

We don’t really know why Hunters boys are so keen on their food – but it’s a really common finding amongst them. It can have its uses as a guaranteed way of distracting from other unwanted behaviours, but when you can’t use it…

Well, we’ll be heading off on the drive in an hour or so. He’ll sleep for at least part of that, and then there will be the distraction of arriving at the hospital and seeing everyone there. We’ll be taking the tablet for him to play on, there’s a football there, and always the option of TV of course. In the scheme of things it won’t be the most difficult thing we’ll have to face. He might disagree with that though!

Results

He did it!

He scraped through with a score of 56 (needed 55).

I am so relieved. The longer we had to wait, the more I was certain that I wanted him to get in. Yes, it means that we may have lots more difficult stuff to face over the next few months, but it does mean the future is not set in stone. It opens up new possibilities.

We’re not in the trial for definite yet. Next week is the rest of the screening, including the lumbar puncture which would assess whether there are any physical problems that would prevent the placement of a spinal port. But he’s over the first hurdle, so I’m hopeful that he’ll get in.

Now I get to go and celebrate by doing the washing up! (And eating some chocolate brownie that I made this afternoon when I didn’t know whether I would need it to drown my sorrows.)

No news

Still no news, but we’ll hopefully get the results of his DQ tomorrow.

Yesterday, we had the consent discussion in the morning and signed the 30 page document. Then after Pudding had his lunch they tried to get some bloods from his port, but were unsuccessful two times running. We were in a little treatment room, and he was obviously getting a bit distressed. So I suggested (though slightly gritted teeth at this point) that when the doctor tried, it should be on the ward with Pudding able to watch TV. This worked fine, but by that point it was getting closer to 3pm and his DQ assessment. We were desperate for him to have a nap so that he would perform better, so hubby took him out in the buggy while I went through the medical history with the doctor. Didn’t work, so by 3pm we were pretty stressed. No nap = not a very co-operative boy.

True to form, he wouldn’t stay at the table to focus on the tasks. Once the assessor had the bright idea of strapping him into his buggy, however, things went a lot better. The tests involved things like naming objects, matching things that go together and so on. He got all the things correct that I would expect him to, and even impressed me with some that I didn’t think he would do. So I think it was a good representation of his abilities, and I won’t be left thinking, ‘If only he’d had a sleep…’

I have spoken to the research team today to sort out some of the details for next week – MRI scan and lumbar puncture – should he get through. But it all rests on these results.

Waiting. Waiting…

Clinical trial

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.