Progress

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I am finally allowing myself to believe that this clinical trial is working for Pudding. Although I have seen the results that other boys have achieved, I have until now always had to remind myself that:

a) a trial is exactly that. A trial. What works for some may not work for everyone and that is why they have to test it out.

b) at the time of testing Pudding had almost the lowest possible score that would still allow him to go on the trial. With results that unpromising I had no idea whether this would effect what we could expect from the drug.

The natural course for those on the most severe end of Hunter Syndrome is for progression until some time around age 4 or 5, and then a time when skills plateau before being gradually lost. This is because the normal enzyme replacement therapy that Pudding now receives weekly doesn’t cross the blood brain barrier to work there. In the hope of stopping this regression, every  four weeks we make a trip to Manchester for a concentrated form of this enzyme to be injected into his spinal fluid to break down waste products in his brain.

Since very early on, Pudding has always continued to develop and improve, albeit very slowly compared to others in his age group. Lately it feels like his rate of progress is making a little leap, and as he gets closer and closer to his fifth birthday we have to see that as a good sign.

Most of his achievements might not seem very much to another mother of a four and a half year old, but for us they are massive. As well as continuing to add to his vocabulary, his understanding is continuing to improve. For instance, when playing ball the other day I told him to ‘Stand further back’. I had to work SO hard not to accompany it with a gesture as I wanted to check whether he understood without. And he did.

IMG_8134He can now almost finish this set of jigsaws without any help; he picks out all the bits correctly and only struggles with putting together the three-piece police helicopter. (He is also often very insistent that the policeman drives another vehicle, but I’m not going to argue about that one!)

His ability to compromise is also improving. Rather than just stubbornly demanding TV he can now sometimes be encouraged to help tidy up first.

He has got used to lots of new routines at school and has even in the last few days been able to pick out his name from amongst all the other children’s. (Not something I’ve been able to recreate at home, but again we can’t have everything!)

So I should be feeling nothing but pride in his achievements and relief, right?

Well…mostly.

Part of me (a small part) doesn’t really want the trial to work. I can hardly believe I’m actually writing this. What an unnatural parent I must be to wish away my child’s chance at life. But much as I feel bad for this I can’t brush my emotions under the carpet and pretend I never have them.

The truth is, if the trial doesn’t work then I won’t have to live with the fact that we have this chance when others don’t. Others who didn’t pass the screening, or for whom it came too late. Others like Ethan who I was so happy to meet only a few weeks ago but who is currently having a hard time of it. Other mothers’ sons all around the world who deserve a chance too.

I know that allowing my child to suffer will not alter the suffering of others, so of course we will continue on this path. I hope it is proved to work. I hope the NHS will accept it as a treament. But I will continue to feel guilty about it.

So I ask of you, please celebrate with us when things are going well, but don’t forget the rest of our MPS family. I’m grateful for this trial, I truly am, but it is only a stop-gap. A far from ideal solution. We need a cure.

A world without…?

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Last week I got round to watching a programme I’d recorded – ‘A World Without Down’s Syndrome?’ In it Sally Phillips, who herself has a child with Down’s Syndrome, raises concerns that a new highly accurate screening test will lead to an increase in the rate of abortions of those identified with Down’s (which is already at 90%).

It was an interesting programme and one which raises lots of questions about choice and the knowledge that can inform that choice. For myself, as an older mother I was well aware of the ‘risk’ in my own pregnancies. Having had contact with the Down’s community previously I think I was less scared about this prospect than some other mums would be and refused the testing that was already available. Partly because I knew the limitations of the test itself and also because I would not have aborted anyway.

Watching the programme though, I couldn’t help but think of our situation now. I was prepared to deal with a Down’s diagnosis at birth, but to be hit with the bombshell of MPS when he was three years old was never on my radar. So if I’d been told when pregnant that my child would have this progressive and life-limiting condition what would I have done?

I don’t think I could have faced the prospect of heartbreak and devastation, the weekly treatments, the uncertainty of this diagnosis. How could I put myself and our family through that, let alone the child itself who would have to become more familiar with operations and needles and blood pressure cuffs than I would ever want to?

But of course we never had that choice to make, and I am very glad I didn’t have to. If I had, and found out now that gene therapy could be available in Pudding’s lifetime, I don’t know how I would feel.

Even taking away that prospect, I couldn’t contemplate life without him, knowing now how much I love this bundle of trouble. Last year I wrote that I would change his Hunter’ Syndrome in an instant. That’s still true on a medical level – if I could save him from the needles and us from the worry, I certainly would.

But now I do have more understanding of the other SEN parents who say they wouldn’t change theirIMG_8306 child for the world. Without Hunter’s, he wouldn’t be the boy who makes his TA’s face shine with pride when she shows me his latest ‘drawing’. He wouldn’t be the boy who in a few short weeks has made himself known and loved throughout the school. He wouldn’t be the same boy who makes me melt with love every time I look at him. He simply wouldn’t be my Pudding.

Potentially he could perhaps be a more ‘useful’ member of society. But then he could also have the potential to bully other children, drive dangerously, become addicted to drugs, or many other harmful things.

As medical science moves on apace, soon (even now) they will be able to screen for all sorts of things, from genetic markers for disease through to intelligence. What is right? Where do we draw the line? And who gets to decide?

I don’t have the answers myself. All I do know is that if pregnant me could see current me she would probably still be terrified about the prospect of MPS and all the troubles that it brings. But she would also see the smiles, and the hugs, and the kisses. And the overwhelming love. And I think that would make all the difference.

Guessing games

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This morning Pudding woke up crying. I hear him whimpering in his cot and go to get him out. When I bring him downstairs he sits on the sofa, his normally cheerful face red, contorted and tear-streaked.

Cuddles make no difference.

Even breakfast doesn’t tempt him.

Was it a bad dream? Was he feeling sick? Was it something else?

I put on the TV and Twiglet finds his favourite show, ‘Sarah and Duck’. The magic box soothes him, the storm passes and a few minutes later he starts on his cereal. I hover with towels and sick bowl at the ready, just in case.

It is this that I hate most about having a minimally verbal child. That I never quite know what is going on for him in his times of need. That I have to play the guessing game. That even when he does talk I don’t always know what he’s trying to say. No matter how many times he earnestly repeats ‘De de de Doo’ at me, I haven’t a clue what it means though I know it’s obviously important to him.

I know we’re better off than some. His language is improving all the time, slowly increasing in vocabulary and clarity. He can now put two words together, though only in limited situations. And I am hopeful that he will continue on this path.

Of course it would be fabulous one day to hear ‘I love you, Mummy’. But he doesn’t really need to tell me that because his actions tell me that every day. What I would love him to say even more is ‘Tummy hurts’. Words like that could make such a difference.

He’s fine again now by the way, sick bowl still unused. I’m just faced with the problem of how to turn the TV off without becoming very unpopular again.

Meetings

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The last two weeks have had a beautiful synchronicity (though I suppose that’s not really the right word as I knew both events were happening).

I have had the honour of meeting two lovely mothers and their sons who live with Hunter Syndrome just like my Pudding.

The newbie

Last week in Manchester I met up with C and her little boy who was diagnosed in July, almost a year to the day after Pudding. A few weeks after they heard the news, our specialist nurse put us in contact with each other. I’ve done my best to support her through this difficult time, letting her know what to expect and how we’ve got through the first year. I know she has also appreciated having this blog to read – making my decision to write it even more worthwhile.

It was fabulous to meet her and give her a hug in person. Her boy is a little sweetie and enjoyed playing hide and seek in the ward curtains with Pudding. What she probably doesn’t realise (though will now!) is how much I too have benefited from my contact with her. It feels a little selfish but it’s as if I’m going back a year ago and telling myself the things I needed to hear, partly rewriting the horrible time when we felt so alone and isolated.

The old hand

Then this week I flew to Ireland to meet Geraldine and Ethan. I stumbled across Ger’s blog a few months into our own diagnosis journey, left a comment and was welcomed wholeheartedly. She introduced me to the online community and was the first person I could turn to for advice.

Since then, we read each other’s writing and message a fair amount so I felt like I already knew her. We had one and a half days of wandering around her lovely hometown, drinking in the sea air and being blown along the prom, eating, shopping and talking almost non-stop. She was just as kind and funny and generous as I expected. And of course I got to meet her boys.

I thought dsc00104I knew what to expect when I met Ethan. He had more language than Pudding when he was little and was a whizz at jigsaws. But he wasn’t diagnosed until he was gone five and then they had to battle for six months to get enzyme treatment for him. Sadly he wasn’t able to join the clinical trial that Pudding is on. Now he’s 14. I knew his fingers would be curled in. I knew that he was using a wheelchair more and more. I knew that his language had mostly gone. I knew that swallowing certain foods was becoming more dangerous. I knew that he likes his own space and can hit indiscriminately. Mostly I worried that I wouldn’t know how to interact with him, but I needn’t have done.

When he came in the door, Ethan made a beeline for me, took my hands in his gentle ones and looked directly at me. What I hadn’t known was how beautiful his eyes are and how much he still wants to communicate even though MPS is robbing him of so many things. I was privileged to sit on the couch to eat toast together and watch The Simpsons. I stroked his back and felt at peace.

Deep down I have always been scared that if Pudding got to the later stages of progression in Hunter Syndrome I wouldn’t know how to connect with my own child. That I would be too horrified at the changes to recognise him and love him still. Ethan taught me a valuable lesson – that he is still very much there and lovable. I am so glad I got to meet him.

Another RIP

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Most of the time lately I’ve been able to feel very positive despite the sword of MPS hanging over us.

Pudding is on the trial and we know that this could mean his future is very different from other Hunter’s boys that have gone before him. Even if the trial doesn’t work for him he would have years ahead of him.

Tonight it’s a little harder to stay positive. Tonight the MPS community mourns again.

Ray was 7 years old.

We need a cure.

Hospitals (and play)

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I have a little luxury that I indulge in when we’re in Manchester if it’s a long day or we’re there two days running. Our visit last week was a long long day. There was a problem in Pharmacy making up the drug so Pudding wasn’t given his dose until three hours later than usual.

(Because the drug is injected into the spinal cord it means that there would be severe consequences if any infection was introduced with it. The drug is made up in the aseptic lab – think protective clothing, disinfection, working in sterile environment – and if anything goes even slightly wrong they have to start again.)

If I’m stuck anywhere for any length of time I start to go stir crazy and hospitals seem to exacerbate that. There is always a lot of waiting around – waiting for the next set of observations, waiting for the dose, waiting to see if he reacts badly – and we’re powerless to really do anything much. So what I do is take a walk to the M&S Food Shop for a nice sandwich and maybe even a pudding. It is a definite improvement on the canteen food, but that’s not the luxury. No, it’s the short walk there, and more importantly leaving the building. I go the long way round and cut across the grass. Even though there are no signs saying you shouldn’t I still feel guilty but it’s worth it. The chance to walk outside and gaze at lush green nature, even if it is only a tiny patch, is priceless and is my healing.

Not that Manchester Children’s Hospital is a bad place. I’ve not got much to compare it to having never stayed in one myself, but if you have to spend a lot of time in any hospital I recommend it. It’s pretty bloody brilliant. It was purpose-built in 2009 and obviously has the needs of children very much at its heart. There are toys and cartoon characters everywhere, clown doctors doing their rounds, visitingSmiling lady with a birthday hat on playing with a transformer celebrities and amazing staff…

The most important people though, at least as far as the kids are concerned, are the play specialists. Nope, I hadn’t heard of them either until recently. These wonderful people have a background in childcare but now work in the hospital to offer all sorts of opportunities for play – distracting children from the procedures they are facing and supporting families. And oh my word, they are worth their weight in gold!

The first thing most kids ask when they get onto the research ward is ‘Where’s Emma?’. Non-verbal children like my Pudding rush to give her a hug. She makes each and every one of them feel special and loved. Of course, the nurses do a brilliant job too, but they have to focus on the clinical side and have loads of admin to do as well, so Emma gets to be the fun one. She provides DVDs, spare batteries and wifi, arranges the chill-out room for the teenagers and messy activities for the young ones. She has an enormous smile that never disappears. (And she’s even been known to clean up vomit when the need arises.) Pudding has one T-shirt that says ‘Mad as a box of frogs’ and we have always joked that she should have one too. Madcap indeed, but exactly what we need to keep us all sane in stressful circumstances.

School

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Exciting times! Yesterday was Pudding’s second full day at school. Last week he did two mornings and this week we’ve been alternating so we can ease him (and them!) in gently.

Despite some encouraging transition sessions and oodles of support from school I have been nervous about him starting. Will he run riot? Will the other kids accept him? And so on, and so on. But the experience so far has been almost entirely positive.

IMG_7561Of course I’m not saying he’s behaved like an angel. That would be too much to ask. But he has run in each morning clutching his school bag and with a big grin on his face to greet his TA – superb. He has sat down to eat his lunch most days – amazing! And I get the usual excited ‘Mumm-mee!’ and knock-me-over cuddle when I go to pick him up.

It’s amusing having his big brother and cousins at the same school. So I get the official version of Pudding’s day at hand-over: that he did well on a jigsaw, that he sat down nicely at circle time or has been very enthusiastic with his painting.

Then my informants rush out afterwards and tell me the more usual Pudding stuff:

‘He ran away at dinnertime and Mrs F had to chase him down.’

‘He was hitting his lunchtime lady with a plastic bottle.’

‘He was lying down in the corridor and wouldn’t get up until I said hello to him.’

What do the other kids make of him? As in playgroup, many have simply accepted him for what he is and don’t seem to bother that he can’t talk to them. Others are interested and want to learn more – one little girl was very proud to be able to show her mum the Makaton they did in class. Another boy told me somewhat grumpily that Pudding always messes up his cars, but it was in a tone of complaint that he would use with any other child. I’m sure we’ll come across the whole spectrum, and that’s ok.

He’s certainly making his mark on the whole school community (which is a big one). Many other parents have asked how he is doing. And I’ve been amazed this week by the number of children who’ve said hello to him during school run; not just friends of Twiglet, Niece or Nephew – it’s been those in other years too.

There are so many stories of cruelty and intolerance out there, and of course those people will always exist. Niece was riled earlier this week by a (notoriously mean) boy laughing at Pudding for still being in nappies. But the acceptance and goodwill that we have seen since Pudding started at school, has been filling up the positive side of the scales to overflowing.

And how am I managing to spend my days? Well yesterday, I went into town to meet a writing friend and spent two hours working on the much-neglected novel. Followed it up with lunch, and some early Christmas shopping then walked back to the bus stop in beautiful sunshine with a grin as wide as my face….

My boys. Always.

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As predicted, this summer holiday has been so much better than last. We’ve had some lovely days out/time away and respite has allowed Twiglet and I to spend time doing some more adventurous outings. And of course it has helped that we weren’t being crushed under the weight of a new diagnosis.

The holiday ended with a week in a converted barn down in Warwickshire. There was a play area with Wendy house, footballs and ride-on toys. Boxes of toys to borrow and play with. Fields to either side with horses and cows. And so many great places to visit nearby with children, including Mary Arden’s Farm and Hatton Country World. I think Pudding was in seventh heaven with all these animals to meet!

Then I came down with a rotten cough and spent the last three days coughing for Britain and wishing I was at home. I’m still coughing a week later and found out that the camera malfunctioned so we don’t have any pictures from the first few days. Not the best end to a great few weeks.

img_0124

So, today is a perfect day to receive this in the post. (Not the best photo – see earlier comment about stupid camera!) I first spoke to Melissa at Holmes-made about commissioning this piece before Christmas but didn’t get around to sorting out the details until months later. I wanted a bespoke papercut of my boys. Something to remind me that no matter what happens in the future, they will always be perfect and beautiful in my heart. MPS can steal so much from families, but it cannot steal that.

And what do I think of the first piece of artwork I have ever commissioned? Well, you can probably guess the answer to that one…

Feeling the love

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I have many reasons to feel grateful despite MPS: the uncomplicated smile of delight on Pudding’s face when he sees someone he likes; his deep chuckle when something catches his fancy on TV; the love given to him by his older brother despite being hit frequently; occasional sunny days; trips out.

One thing I haven’t mentioned lately though is the many people who have shown us love and support over the last year. Family and friends have been wonderful. Even though I rarely ask for help (apart from Sister – I ask her ALL the time) I do appreciate that people have offered and looked after Twiglet when we’re off at appointments.

IMG_8884Then there’s all the fabulous fundraising that has been done for the MPS Society. A friend did a 10k recently. Hubby’s brother-in-law and niece are in the Great North Run soon. A team from Hubby’s work have entered a soap-box challenge. Even Niece has started making pom-pom animals and wants to sell them to raise money.

Whether it’s small amounts or large, I appreciate them all. This is money that can be used to keep someone on the end of the phone line to support newly diagnosed families and help them through the minefields of form-filling, money that can be put towards finding new treatments and possibly cures for MPS.

So thank you. From the bottom of my heart, I thank you all.

Perfect Day

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When Pudding was first diagnosed with MPS I thought I’d never be able to smile again. If you are told that your child has a life-limiting illness it is like your whole world has just ended and nothing will ever be the same.

Other parents told me that the first year was the worst, and I wanted to believe them but couldn’t quite. How could I ever come to accept this.. this awful reality? The weekly ERT infusions, the operations, the news about damage to airways and heart, the continuous punches in the gut which come with each new revelation.

But the other parents were right. Things do get easier and the new normal becomes …. well… normal. I’m often told that my blog posts make people cry, even now, and I’m always a bit surprised. I don’t intend it to be that way. I rarely cry myself these days. Never say never, of course – this is not a reality I ever expect to embrace wholeheartedly.

ERT has become a weekly routine. Even the monthly trips to Manchester are getting better. And it helps of course that we have hope for the future. So now I’ve reached the stage when I sometimes get days when everything comes together and life seems almost perfect. This week I had one of those.

In the morning we (me, Pudding, Twiglet, Niece and Nephew) set off for a visit to Nuzzlets organised by our local special needs group. I’d been told about it a while back by portage and knew that Pudding would love it. The chance to meet and feed lots of different animals would be ideal for my little snuggle-monster.

Pudding in his buggy being handed a black kitten on a blanket.Almost as soon as we arrived the kids were cuddling and stroking kittens. The smile on Pudding’s face couldn’t have been wider. There was bird seed to put out, apples to collect in a wheelbarrow, hunting for bugs under a log, a field of sheep to walk through. Each activity was done just for a short time and most of the areas were separately fenced off so I knew that the escape artist would not be able to run off.

Pudding sticking a giant carrot into a giant black rabbit's mouthPudding couldn’t stop giggling as the goats nibbled food off his hand. And apparently guinea pigs and giant bunnies don’t mind being force-fed a carrot. Even Twiglet deigned to have a rabbit on his lap. Completing a successful trip we managed to keep Pudding awake in the car on the way home. Meaning…

…That in the afternoon we continued our project on the Normans while he had his nap. I used to do projects all the time with the other kids – letters of the alphabet, finding out about different jobs, and so on. But as Pudding got bigger and more of a handful it tailed off. Since diagnosis I’ve hardly done anything like that with them. So it felt strangely elating to be designing our own shields, drawing a Bayeux Tapestry on brown paper packaging from one of the medical deliveries, and recreating the Battle of Hastings using Happyland people.

The day was finished off with listening to gorgeous music from Classic FM on my way to my writers’ group in the evening, and receiving a lovely present from a friend.

See? You don’t need to cry for me – on days like this life couldn’t be better.