Tag: future

His eyes

On By huntersmumIn hospital8 Comments

It’s been a long day at hospital.

My back is aching and I am so tired. I go to bed but cannot sleep. When I turn out the light and lie down all I can see is his eyes. Red-rimmed and full of tears they look into mine and beg me to make it stop.

It was just a routine trip really. Our usual monthly trip to Manchester Children’s hospital for the clinical trial that Pudding is on. T came with us too as he really wanted to see where his brother has been coming for 3 years now. But as those who follow us on Facebook will know, we’ve been having a few problems with Pudding’s IV port – the one which we use for his weekly treatments. Towards the end of the day, we went down to Radiology to try and get a lineogram.

Pudding was already tired and we ended up having to wait far longer than we expected. I knew it wouldn’t be easy. He was hitting out in the waiting room. Shouting and hard to distract. He fought us as we got him on the X-ray table. We needed him to be still so we could get a clear picture but of course he can’t know this. He doesn’t understand.

So often his behaviour is physical  – being non-verbal he can’t tell us what he wants. He can take my hand and lead me to the kitchen cupboard to ask me for food. He can hand me his tablet to ask it to be turned on. He can throw things until I notice that his programme on TV has finished and needs to be turned over.

But as I stood at his head and pinned his arms down, he looked at me with those heartbreaking eyes. And I knew exactly what he wanted. It didn’t matter that he can’t talk. It didn’t matter that he has a severe learning difficulty. Clear as anything, he was saying ‘I don’t want to be here’. Speaking to my soul and begging me to help. And I held him down.

The lineogram couldn’t show anything anyway. In the time since it had been accessed the needle had come out of place. So we have to try again in two days time. He is now fast asleep, lying peaceful and unconcerned by anything. And I’m left here wondering what it will be like next time. Will he be in a better mood and will it all go swimmingly. Will he see the room and start fighting again? Will I need to look into those eyes again and tell him it will all be alright? Will I do my best to calm him when I’m close to tears myself?

At times like this all I want to do is whisk him away. Get him miles away from needles and x-rays and monitors and all the shitty implications of a medical life. Say goodbye to the hospitals. Live life in the moment and not think of the future. He should be in a field somewhere – kicking a ball, stroking a bunny, throwing stones in a river.

How can I ever know what is best for him? He’ll never be able to tell me whether I got it right. When the moment is past he doesn’t hold it against me.

But those eyes stay with me…

eyes

Can I love MPS?

On By huntersmumIn family16 Comments

The other day I watched my eldest, T, shooting zombies on a computer game and telling me enthusiastically about the gun he’d just got (ON THE GAME!) and how machine guns were the BEST. I sighed and wondered why with all the amazing toys and books we have around, it is simulated violence that wins out.

And then I had a bit of an epiphany.

His brother, Pudding, may laugh at cartoon violence but he will never get involved in blood-thirsty shoot-outs.

I read a lot of blogs about other disabilities and one of the discussions that I find both fascinating and thought-provoking is differing views of autism. Parents of children with autism often struggle to adjust to this different world and use strongly emotive language about it. Whereas adults with autism will point out that autism is a part of them and to say you hate autism is to say you hate them.

That discussion has often made me think about how I refer to MPS – I’ve frequently said I hate it and wonder what adults with the same condition would say about this. The trouble is, I guess, that when I write I often use MPS as short hand for ‘Mucopolysaccharidosis Type II (Hunter Syndrome) – the severe version’. It’s just simpler to write. And whilst there are adults with other types of MPS or the attenuated (milder) end of Hunter Syndrome, there are NO adults still living with severe Hunter Syndrome for me to ask.

If my son was diagnosed with cancer or caught a life-threatening illness, that would be less complicated – I could rail against that to my heart’s content. But MPS? Without MPS he would be a completely different boy. How can I hate something that is a part of him? And yet, how can I not hate something that will take him from me before he becomes an adult?

And yet, and yet, and yet. There are bonuses to having my boy with MPS. The lack of interest in violent computer games is just one of many.

He may never tell me he loves me but he will also never scream ‘I hate you!’ in the heat of an argument.

Pudding aged 3He may not ever find ‘the one’ special person in his life. But to him, everyone is special.

He will never get drunk and fall in through the door at 2am.

He may not join in nursery rhymes but he will also never disturb the whole street by playing thumpingly loud music.

He will never judge anyone based on their race, religion, gender or any other construct of society.

He will always need help with things but will never look at me with contempt because I can’t manage the settings on my phone.

He will never demand the latest toy craze because ‘everyone else has one’.

His uncomplicated joy in life is contagious.

And he may attract stares sometimes but he will also continue to bring many wonderful people into our lives.

There will always be the health aspects of MPS that I rail against and if I had a magic wand I would cure him in an instant. But there are things that I can celebrate about MPS as well. My emotions and thoughts around this topic will probably yo-yo though the months and years depending on what is happening around us. (I think another blog post is forming in my head about separating out the different aspects of health/disabilities and what it is that actually bothers me.)

But the one thing that will never change is that Pudding is my gorgeous boy and I love him with all my heart.

First week

On By huntersmumIn school1 Comment

I know there is some controversy over the term ‘special school’ and so far when referring to Pudding’s new school I’ve been careful to use the official term specialist provision instead. But do you know what? After his first week there I’d like to say it IS special.

To be fair, most schools are special places, full of amazing teachers and hope for the future. (When they are not being destroyed by funding cuts, the need to teach irrelevant grammar, endless curriculum changes, etc, etc, but I won’t go off on a rant about that. Promise!)

But this place feels even more special to me. As I’ve said many times before, I’ve been so happy with the way Pudding’s mainstream school has done their best for him, welcoming him and all his ways into the school community. Yet, now I feel he’s in a place where he truly fits in. At mainstream, he would always stand out as being different and be treated as … well… a special case. But now, he’s with other children who have the same or similar needs.

Pudding in white school topIt is hard to describe the relief I felt on getting the first letter home describing what his class was going to get up to this half term. I no longer have to deal with the heart-sink of reading ‘this week we’re going to be looking at number bonds to twenty’ when my son can’t even count to two. Instead I read about an emphasis on mark-making, sensory play and grouping objects. They work on self-care and regulating emotions, do dance and explore stories in amazing interactive ways. It’s exciting watching this new future unfold in front of him.

His first day was unsettling of course – waving him off in a taxi and knowing that I wouldn’t get to speak to his teacher directly at pick-up like I’m used to. But as the week went on, we got into routine. Pudding happily looked out for the taxi each morning, and climbed into it looking very proud of himself. And in the afternoon his welcoming committee (me, T, Niece and Nephew) waited impatiently at the window for the first glimpse of his smiling face. We have a home-school communication book to pass messages back and forth. And pictures are regularly added to an online account so that I can see what they’ve been up to in class.

school

One of the biggest changes for me is the school run. I’m used to looking out the window first thing to check the weather, decide if we need the buggy cover. I’m used to getting boiling hot with the effort of pushing the buggy and stripping off layers by the time we reach school. Yet now, T and I saunter along and I could even have the luxury of an umbrella if it’s pouring. But oddly, I miss it. I miss other kids saying hello to him as they head to the nearby secondary. And I miss Pudding – even though I only see him for about an hour less each day. But it makes his greeting when he does get home even more special.

Apart from that, I literally couldn’t be happier. And Pudding seems pretty happy too, so win-win all round.

 

Joy

On By huntersmumIn familyLeave a comment

With World Down Syndrome Day coming up (21st March – I’ll be wearing my odd socks!) I’ve been reading some lovely posts from parents about their children with Down Syndrome. And of course there’s the beautiful carpool karaoke video that has gone viral – have tissues to hand when watching!

Together they have reminded me of something important.

Being an older mum, I always knew that my chance of having a baby with Down Syndrome was higher. (And yes, I use the word ‘chance’, not risk.) I knew I would love my baby no matter what and having known a number of people with Down Syndrome, was not scared about the prospect of this new addition to our lives. I knew that there would be challenges along the way, but these would be outweighed by the positives.Research shows that the overwhelming majority of parents surveyed described their children with DS as great sources of love and pride.

At birth nothing appeared out of the ordinary and I thought nothing more of it. Fast forward three years and Pudding was diagnosed with Mucopolysaccharidosis, something I’d never been prepared for. Over the nearly three years since then, I have blogged about the ups and downs of living with this diagnosis.

Any regular readers will know there have been a lot of downs and I’ve always tried to be honest about how I’m feeling. And yet…and yet…writing about the negatives sometimes pushes out the positive. With Pudding, despite the challenging behaviour, stress over hospital visits and fears for the future, the positives are definitely there too.

I regularly post cute photos and little updates on Facebook but when blogging it always seems easier to put the hard stuff into words. The good stuff is so much more difficult to describe.

Pudding peering around a tree with a huge cheeky grin.How can I put into words the joy on his face this morning as he leapt onto the bed shouting, ‘Daaaddeee!’? How can I adequately get across what a cute little beetle he is as he lies back and waves his foot at me for his sock to be put on? The softness of his hand as he yanks it towards his tablet insisting that I help him? The funny little stampy dance that he does when he is excited by the attention he’s getting?

The low-points are mainly to do with external worries and my attitude to them but the high points are in my heart.

A number of Down Syndrome posts this week have emphasised the joy that comes with this life. Celebrating that joy, as many families will be on 21st March and throughout the year, is what our children deserve.

Audiology (sort of)

On By huntersmumIn medicalLeave a comment

Those of you who follow us on Facebook will know that we ended up in A&E on Monday night – nothing serious – just being checked out when Pudding started vomiting following a head bump. Both the doctor and I thought it was unrelated but we had to be sure because of course he couldn’t tell us how he was feeling. It got me thinking about what Pudding’s learning disability actually means for him and his future.

Many studies have shown that people with a learning difficulty often have worse health than those in the general population. Sometimes that is due to an underlying health condition that also causes their learning difficulty (for instance, Pudding’s diagnosis of MPS). But this is not always the case. When premature deaths are analysed, apparently 38% of people with a learning disability died from an avoidable cause, compared to 9% of those without a learning disability.

I’ll just give you a moment to read that again. 38% of premature deaths in those with a learning disability could have been avoided. 

The reasons of course are varied and complicated, but can often be put down to a series of misunderstandings or miscommunications or plain indifference. Take for example, the case of Richard Handley (related here in a slightly sweary way) from a bowel problem. Or that of Connor Sparrowhawk  an autistic man with epilepsy who drowned in a bath unsupervised.

All (well, almost all) our interactions with health professionals so far have been exemplary. Take audiology a few weeks ago. Pudding isn’t always very cooperative at appointments but they took their time and didn’t rush us. One lady did a marvellous job of distracting him with toys but at the same time allowing him to listen and react to the sounds.

First she tried getting him to jump the little wooden men into the boat each time he heard a noise but that didn’t work. Pudding just wanted to jump them all in straight away – why bother waiting?! So next, they used the test for much younger children where some puppets light up and start dancing whenever the sound plays. He soon learns that when he hears a sound he can look at the puppet and it will start.

Pudding watching TV in the hospital playroomThe lovely audiologist in the other room had the difficult task of trying to work out whether his reactions were genuine or whether he was anticipating the stimulus. The results agreed with the last hearing test he had, showing moderate hearing loss. But she wasn’t prepared to just accept that. She wants to be sure it’s a genuine result rather than just the difficulty of testing someone who doesn’t understand why we’re getting him to do this. So we’re going to try again another time, and also have someone observing him in school to see what he is like in a functional situation.

The pediatric specialists we have seen work hard to engage with Pudding and listen to my parental expertise. And I wonder whether part of that is that they are used to dealing with a wide range of ages and abilities. Therefore children with a learning disability don’t really phase them.

But of course, once that child gets bigger and less cute and moves up to adult services, parents sometimes have less involvement in daily support and health issues. The parents’ expertise in their child can be sidelined. Little health problems can be missed and worsen. Not everyone will care enough to worry about every little symptom that appears and look into potential causes.

I will always want to look out for Pudding and keep him safe and happy, but I won’t be able to for ever.

Sometimes I would love for time to simply…..stop.

Moving on

On By huntersmumIn schoolLeave a comment

In amongst all the negative stuff about antibodies, trial and so on, it is a pleasure to have some good news for a change.

Way back in September 2015, Hubby and I were looking at schools for Pudding and trying to work out what would be best for him. It was hard making a decision because of course we couldn’t see into the future. We had no idea what the next few years were going to bring. We didn’t know whether he had the severe version of Hunter Syndrome that affects the brain (he does), whether he would get onto the clinical trial that might help his development (he did), whether he might improve enough to start catching up his peers a little (he hasn’t).

Pudding smiling widely in his red school shirt.We already knew what the local primary (which T attends) was like, and we also went to look round the nearest specialist provision. (The term ‘special school’ still makes me wince a little, though there isn’t really an easily understood alternative.) It was lovely there but in the end we chose mainstream. I thought it would be good for him to be rooted in the local community and good for others too, to have some understanding and acceptance of those who are a little different to them.

I will never regret that decision as there have been many positive aspects to Pudding’s time in mainstream. However, going into Year 1, I knew that the challenges for everyone would get greater. Whilst his peers were all learning to sit nicely and be taught more formally, that was never going to be easy for my little whirlwind. We tried, and failed, to get a split place between the mainstream and special schools. I had found reaching that choice a very emotional journey, and even harder to then be turned down.

But a place has now come available and Pudding will be starting at the special school after Easter.

I know he will be missed in mainstream – for a start there were three devastated faces when I sat T, Niece and Nephew down to tell them the ‘good’ news! His TA will have significantly less bruises but will miss him awfully. And the rest of the school will probably seem oddly quiet for a bit.

One thing I hadn’t expected was the reaction of our SENco. She was quite emotional when she told me how hard she had found it to paint a less than positive picture on Pudding’s EHCP – that it made her feel that she had somehow not done her best for him. Yet this couldn’t be further from the truth.  In fact, by being honest about the limitations we were working under in mainstream she has helped him find a place where I hope he will be able to flourish. I would hate her to think she has failed in any way as she has done so much to support both Pudding and I while he has been at the school. She has coordinated people, resources and reams of paperwork. As well as catching up at her SEND coffee mornings and at formal meetings, she has also been known to email me out of hours when I’ve had bad news. I’ve read so many accounts from other people who have never had anywhere near this level of commitment from their SENco, so I hope she knows she is one in a million.

I know I’ll be an emotional wreck on Pudding’s last day in mainstream but I am truly excited to watch this next stage of his life. Onward and upward!

Looking back

On By huntersmumIn family1 Comment

I’ve been avoiding writing another blog post and it took me a while to work out why. With the New Year comes the time to be making resolutions and looking forward. Yet with so much uncertainty around Pudding’s future at the moment, I don’t think I want to…

So, in order to make myself feel a bit better I have decided to look back instead and focus on some of our achievements instead.  Three from Pudding and three from me:

 

Pudding wearing a felt toy shopping basket on his head.

Pudding’s achievements

I do sometimes find it hard to stay positive about how Pudding is doing, particularly when his speech seems to be declining, but when we look back there are definite improvements in some areas.

  • His ability to focus has got so much better…when he wants! From standing in line in a PE class to knowing that he has to tidy up first before getting TV, it shows not just focus but understanding.
  • School only introduced PECS part way through last term, and none of us expected him to do so well. He grasped the concept of Phase 1 really quickly – learning that if he gives someone working with him the picture of sweets for instance, he will get those sweets. (If I remember, I may do a longer blog to explain all about it – you lucky, lucky people!)
  • We’ve discovered that he loves having little jobs to do and seems to get such pleasure in completing these routines. Putting his socks in the washing machine, delivering the register at school, sorting the cutlery into the drawer and ‘helping’ with the washing up, all bring a big smile to his face and to ours.

My achievements

  • Top of the list – I’m a much better driver than I was 2.5 years ago. I’ve never been that keen on driving and would always do my best to avoid long trips. One MPS diagnosis and countless trips on the M62 later, and I’m a pro.
  • Historically I’ve also not been much of an active person. But I can now go from 0-60 in about two seconds flat when Pudding makes a break for it. And my weightlifting capacity is increasing at almost the same rate as his size.
  • As my third I was going to put that I’ve learnt to be more patient, but I’m not sure that’s actually true. Perhaps I can at least say that I’m still trying, despite the odds! It’s definitely easier simply to put the TV on given the constant demands, and sometimes I do just give in. But sometimes…I don’t. Sounds ridiculous but I consider it a major achievement that this afternoon I actually got Pudding to do a few jigsaw pieces first.

Hubby and T have had their successes too of course. And whatever happens going forward, I know we’ll all continue making those baby-step achievements. But of course the best thing about looking back or forward is this gorgeous face. The face that can turn my rainy day to sunshine even when I’ve had not enough sleep and am grumpy as hell…

Smiling Pudding in profile with blurred greenery in the background.

Happy 2018, everyone!

Cliff-edge

On By huntersmumIn medical7 Comments

I wrote recently about feeling lucky, and that’s still the case. But of course, life is more complicated than that. The truth is that right now we’re walking on a fairly even path. The sun is shining, we’re having a fun outing as a family and we’re enjoying the view. But somewhere up ahead of us is a cliff-edge.

We don’t know when we’re going to get to it, though we know it’s close. We can’t change direction to avoid it. We have no choice but to keep on walking forward and just hope that we don’t fall headlong down into the chasm below.

Sorry, that analogy went on longer than I expected. Yes, I’m talking about Pudding’s clinical trial.

I think it’s getting pretty clear to anyone who knows Pudding that he is still gaining skills, whereas boys with Hunter Syndrome really shouldn’t be at this age. Yesterday I watched a video from school of him taking part in a relay race. I just couldn’t believe that it was my little boy running to a classmate, handing over the beanbag and then waiting patiently for his next turn. Yes, of course he still needed support, but the understanding and concentration he was demonstrating were… Well, we were all amazed and T begged to see it again and again. So, from our point of view, the trial that is putting enzyme into Pudding’s brain has to be making a difference.

But what is the cliff-edge?

Around this time in 2016, the final boys were recruited onto the clinical trial which officially runs for one year. (Pudding is currently on the extension study where he still gets the enzyme, but we don’t have quite as much testing.) The pharmaceutical company will therefore have all the data they need to look at the numbers and see whether it is a treatment option that is worth pursuing.

At that point they could just decide to cut and run. That is the first stumbling block but I don’t actually think it’s likely. Some boys have been on this intrathecal enzyme for years now, and are continuing to gain skills. Some trials (including for MPSIII drugs) get pulled part-way through the clinical period due to interim results. But that has not happened with this one which makes me think that the figures so far are promising enough.

The next step is for the drugs company to apply to the FDA and EMA (the bodies overseeing medicines in USA and Europe) for approval. This is a complicated process, could take months and even if the drugs company think they have good evidence, could still result in a ‘no’.

And then, and then…. the NHS would have to decide whether to fund the treatment. That’s the one I’m most scared about.

As ever, it’s the not-knowing that I find hardest to deal with. Not knowing how long we have to wait until we find out. Not knowing what the answers will be. The analysing and second-guessing can drive you crazy.

I don’t think I can deal with thinking about it much. So I’m doing what I can to stay relatively sane. Until we reach that cliff-edge and are teetering on the brink I’m going to keep on walking, ignore the inevitable and enjoy the day while we can.

And I will continue to remind myself that we are indeed still lucky. Other families are much nearer that cliff-edge than us. While decisions are being made, Pudding’s treatments will probably continue to be offered by the pharmaceutical company. Boys who didn’t make it onto the trial still have nothing.

Old Age

On By huntersmumIn familyLeave a comment

I often feel old these days.

Let’s face it, I’ve always been a bit of an old fuddy-duddy, but lately it seems to be catching up with me physically. I’m not as flexible as I used to be. Hubby laughs at me when I get up off the sofa and have to hobble for a few paces before I can straighten up fully.

Pudding looking back at the camera whilst he heads out of a ruined castle archwayI can still race after Pudding when I need to. Other parents will attest to that after seeing me go from 0-60 in two seconds when he’s about to head out the playground gate. But some days it’s an effort.

I turned 40 while I was pregnant with Pudding, and do wonder if I’d find it easier in a younger body. Lack of sleep really does me in – even nights when I’m only vaguely aware of him chatting can leave me exhausted the next day. And bruises I get from him last for weeks.

You might think that with age comes more experience, conferring an advantage in the particular battles involved in raising a child with special needs. But I’m privileged to know a number of younger MPS mums who are doing a bloody marvellous job at just that (waves hello – you know who you are!).

Of course I’ve often wondered if my age is actually the reason for Pudding having MPS. Hunter Syndrome is the only x-linked version of MPS. This means it is passed down on the ‘x’ chromosone from the mother only. I don’t have the gene deletion on my own DNA so Pudding’s case is from a spontaneous mutuation.

Of course I was aware as my single, non-childbearing years continued to pass that my fertility was declining. The ‘cliff-edge’ diagrams and comments about ‘selfish women wanting to delay children due to their careers’ are thrown at you by the media. The link between older mothers and increased likelihood of having a child with Downs Syndrome is well documented and I was prepared for that outcome when I was pregnant. But I’ve never actually dared to ask the question about a similar link in MPS – whether a spontaneous mutation is more likely as the mother’s age increases. I don’t think I really want to know the answer. It’s done now. I can’t change what’s happened. I always expected to have children much earlier but never met the right man until Hubby.

My worry now is for the future. As we age, what will happen to Pudding? Who will care for him and see that he is well looked after? With new treatments becoming available maybe he will beat the odds and kick MPS in the butt. But if he makes it to 30 years old, I’ll be 70. Current attitudes to disability and long-term care available in this country don’t exactly fill me with optimism.

Sometimes the thought of losing him earlier is less scary.