Joy

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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.

Screen time – how much is too much?

On By huntersmumIn family4 Comments

There was a post in a Facebook group recently from a mum looking for some reassurance. She was concerned about the amount of screen time that her SEND child was getting and wondering how others dealt with the same issue.

There were lots of helpful/non-judgemental replies (social media CAN be good!) and mine was as follows:

    ‘If I had my way, my kids would only have 2 hrs max during a day. But Pudding didn’t get that memo. He had about 8 hrs today. So hard to get him to engage with anything else, and certainly I couldn’t get anything else done when he’s around otherwise.’

That earnt me some grateful reactions from other parents. And of course there were many others who said similar things. It’s always good to know that your child is not the only one

It’s a subject so tied up in Mummy guilt even with children who don’t have any issues. Am I doing enough for my child? Am I teaching him/her the right skills? Will he/she become addicted to games/be able to interact with others/learn to cope with boredom/get enough exercise. The ramifications are endless and I’ve had more than my fair share of anxiety over it in the past. But lately I’ve just gone with the flow.

Pudding watching a film on his tablet

If screen-time for Pudding is what makes life easier – for all of us – then that is what we do. We work hard to engage him with other things when we can and sometimes we even get to celebrate not putting on the TV until 2pm! (Usually only if we have made it out the house on an outing.) But other days…? Well, if we want to get any washing up done, or prevent T getting hit or have 5 minutes to ourselves, then screens are our friend…

Some of his time is spent playing on his tablet which at least is slightly more educational. Pudding has learnt to do some of the simple jigsaws and can even spell ‘bus’ and ‘egg’ on the Alphablocks app. But he won’t tolerate the tablet for too long. Once he has tired of it, that will get launched at us too. And tablets are quite heavy! So mostly it is TV. And if that is all day, then so be it. It’s easy enough to stop T from over-indulging as well – he has so many other interests so we can read together or play a game or he’ll go and play Lego.

That was all this blog-post was going to be about: a statement that no amount of screen time is too much. But I’ve realised that’s not actually true. For me.

I spend far too long on a screen lately. It’s crept up on me. More and more time scrolling endlessly through social media, falling into that trap of worrying that I’ll miss something, wanting to feel connected. And when I’m not on the computer, any spare 5 minutes I have I’ll pick up my phone to play a game (I’ll not tell you which as I don’t want to be responsible for getting you addicted as well!). More often than not, the 5 minutes stretches to 10 and then 15…

I thought it was an escape from everything else when I couldn’t face the To Do list, but it doesn’t really work like that. Maybe for the 5 minutes/half an hour/two hours that I’m staring at the screen, I stop thinking about stuff for a bit. But it’s still there when I look up again. Only it’s a little bit worse because weeks or months later I still haven’t tackled any of it.

When we were in hospital earlier in the week for two overnight stays (routine blood samples) I bought a magazine called Psychologies. Although part of me laughed a little at the article formats that encourage you to change your life in easy-to-follow steps, I guess somehow it has worked. This morning I woke up determined to be better.

I have done two coats of paint in a cupboard upstairs. And at least three times when that game was calling me, I ignored it and chose to do something more useful instead. My world will not implode if I have less screen time. And I could become a heck of a lot more productive.

I hope I can keep it up. Wish me luck!

Rare Disease Day

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Today it’s Rare Disease Day and the focus this year is on research. As some of you will know, rare diseases aren’t actually that rare. One in every 17 people will be affected by a rare disease at some point in their life. Every treatment that has ever been made available for any disease is as a result of medical research. Yet for those living with rare diseases (sometimes known as orphan diseases) treatments just aren’t as easily found as research is more costly when it can’t be offset against a large patient base. On the other hand, research into rare diseases is a real trailblazer and can bring about new options for other conditions too.

clinic-doctor-health-hospital.jpg

Some rare diseases are wildly different to Pudding’s diagnosis of Mucopolysaccharidosis (Type II – Hunter Syndrome) and some are much closer. Today I want to tell you about Batten Disease – one very similar to MPS. You’re probably wondering why. After all, this is a blog about Hunter Syndrome and how we’re living with it on a day to day basis.

Well, there was a family on This Morning the other week, and they are living our future right now. Watch it, and you will see so many similarities with our situation: like MPS, Batten Disease is a genetic condition caused by a missing enzyme; children seem healthy at first and are often not diagnosed till around the age of 3; they slowly lose skills such as the ability to talk, walk or swallow; and parents face the agonising fate of watching their children die too early. Way too early.

Like us, this family managed to get their children onto a clinical trial and have seen the drug stabilise their loved ones and even allow a little progress. Unlike others now and in the past who have not received this treatment, these children have a chance at life. Yet NICE have now decided not to make this treatment available in the UK. And there is no way that any individual could afford a drug like this.

This could be us in a few months time.

I know people will, and do, say things like ‘The NHS doesn’t have unlimited funds’, and I understand that. I really do. (Maybe I’ll address those sort of arguments in a future blog.)

But this is the reality of Ultra-Rare Disease. Research is needed so badly, but it is a double-edged sword.

Just imagine it, if you can. Your lovely son or daughter is diagnosed with a life-limiting disorder. You deal with this devastating news however you can. Then you are given some hope – a research trial results in a treatment that is keeping children alive. Yet, because of the country you live in, your child will not continue to receive it. There is a treatment available. But not for your child.

How would you feel?

You can help them by signing a petition asking for this drug to be made available. Please do. You can also follow their journey on Facebook at ‘Ollie’s Army Battling Against Battens’.

Birthdays

On By huntersmumIn family2 Comments

It’s birthday season and I find it hard to believe that my little Pudding will soon be six years old. I look back on pictures of him as a baby and it’s like looking back on a different world. One in which he had so much potential, so many possibilities in front of him.

However, this is our world now and as with Christmas I think we’re going to get it right. Pudding loves birthday cake and being the centre of attention, but otherwise doesn’t really ‘get it’. Give him a wrapped present and he’ll grin widely and then chuck it away. So, we’ll do things the Pudding way.

Pudding holding a wrapped present and smiling.I’m not planning a proper party where he’ll be expected to do things properly. Instead we’ll just be going to our local soft play centre and suggesting to a few friends that they join us there if they’re free. And I know he’ll have a lovely time running around and playing football and building with the bricks. And I’ll have a slightly less lovely time running after him and trying to distract him from the cafe counter and the ball pit (his aim when throwing balls at other kids’ heads is devastating!).

Part of me feels a little bit guilty for taking the easy option, but truth is that the easy option really is better for both of us. Some day I just need to let go of the idea that ‘normal’ is the only way.

Of course, ‘normal’ is still what I’d like quite a bit of the time. I’d love my child to welcome other children to his birthday party and go to theirs. I’d love him to help me pick out the right presents for his friends and get excited that there’s only one sleep to go before a party. But we don’t get all that.

Pudding has only been invited to one party so far this school year.

Of course, he doesn’t know or care, which makes it easier certainly. There are other children out there though who do know. Children who see everyone else in their class getting invites or talking about the fab time they had. Children who want to have friends and don’t understand why they get sidelined. It is heartbreakingly common for children with learning difficulties or other disabilities that set them apart from the crowd.

Which made it all the more lovely to hear a positive birthday story recently. One lady in a Facebook group I belong to for parents of children with SEND sent out a message to all those children who never got invites. She wanted them to feel included for once so offered an open invitation to her son’s birthday party. Even people she had never met were welcome to come and join in the fun. How wonderful is that?

Of course I don’t expect everyone to do that (and I’m also not angling for loads of invites to land on our doorstep!) but wouldn’t it be nice if children with SEND were included, properly included in all areas of life. We can’t force children to be friends with someone, but I suppose what we can do is take the time to encourage them to think of others. To reach out to someone who seems lonely. To see that someone who acts a bit differently to them is just different, not wrong.

It feels like I’ve moved off topic a bit, but I guess what I’m saying is that special occasions such as birthdays often serve to highlight how different life is for us than how I expected it to be.

Different, but not wrong…

Audiology (sort of)

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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.

Clouds

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Do you ever have one of those days where clouds hang over you and your bad mood just infects everything? Where you spend hours feeling angry/anxious/miserable for no very good reason? One of those days when you wish you’d just given up and gone back to bed?

Yesterday was a bit like that. By the afternoon, lack of sleep caught up with me and everything just became a bit too much.

I got irritated when Hubby bonded with T over computer games rather than getting him to do guitar practice or tidy his room.

I snapped when Pudding ran away with my phone. Again.

I wanted to cry when faced with another load of washing up.

I felt horribly guilty when snatching the rolling pin away from Pudding (again) that I accidentally banged his head with it.

I lost it completely when T refused to eat his dinner ‘because the pastry fell apart’.

I felt sick to my stomach when thinking of potential reactions to a tweet that I never even wrote (yes, I’m expert at catastrophising over hypothetical things!).

And any number of other ridiculous little nothings. By the evening I was a seething mass of bleak negativity. It got to the stage where I was putting off going to bed as I knew that I would only lie there replaying everything over and over which would stop me getting to sleep.

And then just before I went upstairs, something on the kitchen wall at eye level caught my gaze. A bit of wilted spinach that I’d pulled out of Mr Fusspot’s dinner and flung at the bin in a rage. Was my aim really THAT bad?

I’ll have to admit, it made me giggle. And everything suddenly seemed a lot better.

Moral of the story?

Every cloud has a spinach lining!

(I should have taken a picture of the spinach stuck to the wall, but I didn’t think of that. So here’s a picture of the leftover tortellini pie that I spent a significant amount of time making before watching both boys reject it. It was rather tasty!)

Tortellini pie (pasta in a white sauce, layered with tomato sauce and spinach)

Moving on

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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!

The Good, The Bad, and The Ugly

On By huntersmumIn medical4 Comments

Finally getting round to explaining what set off my last rant about MPS. Of course, I always hate MPS (who wouldn’t when your child has been diagnosed with a life-limiting illness?), but I found last week’s hospital trip particularly hard.

So here it is – the good, the bad, and the ugly. Though as I always prefer to end on a positive note if I can, it’s actually the ugly, the bad and the good!

The Ugly

As you may have read before, the clinical trial Pudding is on had disappointing first year results. Before the boys received their doses this time, our consultant (who also runs this phase of the trial in the UK) gathered us parents together to explain what he has heard, and answer any of our questions. He wasn’t able to give us too much information as the full results are embargoed until February when they will be announced at a conference. But what he could tell us was that he was more heartened by the results than he had expected.

The reason I’m still calling it the Ugly is that analysing data for such a small group is …well… complicated. Without going into a whole essay about the mechanics of designing clinical trials (I find it fascinating, but you probably wouldn’t!) one year of data is just not enough to show clear benefits. So their next step is possibly to include data from other studies done previously which show the normal course of decline in MPSII. Not a straightforward process, but there is potential.

Of course, there will still be the issue of getting agreement from NICE and NHS England to fund it if the drug is approved. But I’m trying to hold onto something our doctor also said about the many battles he has had to fight in his clinical career. ‘I’ve realised that the only way I can get through, is by dealing with them one step at a time.’

The Bad

This is the one that knocked me for six. After a bad night’s sleep on the ward (Pudding was still climbing out of bed and switching the lights on and off until nearly 11pm) and the morning’s discussion on trial issues, I had another talk with the consultant. He told me that Pudding has developed antibodies to the enzyme infusion that he receives every week.

Pudding on a see-saw in a bright red ladybird-design coat.

Again without going into all the details (lesson on cell biology, anyone?), the basics are that all sorts of different antibodies circulate in the blood. The ones that we really don’t want to see are neutralising antibodies which stop the enzyme being taken up into the cells to do their job. And yes, those are the ones that Pudding has.

These results are actually a year old, so there is a possibility that more recent results will show that the antibodies have gone down again. It’s unlikely though, as there have been a few other reasons to think that the enzyme is just not working as well as it should be for him. Of course, without the enzyme clearing away as many of the waste sugars, they will be building up again, and potentially causing new damage to his organs, joints and so on. So…next stage will be to think about ways to get round it. This will probably mean some form of immune suppression drugs.

The news wasn’t entirely unexpected. Some boys with this condition have a small ‘spelling mistake’ on the DNA, meaning that their body produces a faulty version of the enzyme or just not enough of it. Pudding, however, has a full gene deletion. So the synthetic enzyme he gets is completely foreign to his body, and hence…antibodies.

In the grand scheme of things it’s not the worst news in the world. But it certainly wasn’t what I wanted to hear.

The Good

Yes, that’s it from the depressing side! Yay!

Even in the depths of this horrible MPS world, the silver lining is always the other people that support us along the way. Our lovely doctor, who cares so much for each and every one of his patients and hates giving us bad news. The nurses and play specialist who look after Pudding so I can off by myself for a cry. And of course, my fabulous, wonderful MPS family. This hospital visit was the first time in ages that all four boys on this phase were treated on the same day, so I could have a chat with the other parents.

When I got our bad news, one of them gave me a massive hug with a tear in his eye. Hugs that come from someone who truly understands what you’re going through are the absolute best. They can never make things completely better, but it’s a bloody good substitute!

 

PS. We do have another bit of good news that I’ve heard this week, but I won’t write about it until we’ve got the official letter!

Hatred

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T, Niece or Nephew sometimes say things to me like ‘I hate broccoli’ or ‘I hate doing science’ and I’ve always told them that hate is a very strong word. That maybe we can think of a better way of describing how we feel about something.

But I can say truthfully and unequivocally, I hate, HATE, hate MPS.

I hate that mucopolysaccharidosis is a word that now rolls off my tongue easily when most people have never heard of it.

I hate that people I know are having to make heartbreaking decisions.

I hate that I have to watch my son take medicines and needles and recover from anesthetic with no idea why he’s being put through all this.

I hate that children are dying.

I hate that I’m too tired and miserable today to even try on some clothes that I’ve just had delivered.

I hate that I see other little boys with nasal cannulas and g-tubes.

I hate that every time you think things are looking up there is another barrier to face.

Pudding watching TV in the hospital playroomI hate that the few other families who know and understand this MPS life are spread all over the world and often out of reach.

I hate that I have to understand terms like ‘neutralising antibodies’, ‘urinary GAGs’ and ‘hypertrophic cardiomyopathy’.

I hate that this bloody disease punches you and punches you and punches you again.

And I hate that I can’t make this any better for my little boy.

 

Sometimes the word hate simply isn’t strong enough.

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!