Last weekend we travelled to Manchester for a lunch and panto arranged by the MPS Society. As well as other MPS and related diseases we got to meet two families with young boys on the MPS II intrathecal trial. This was so good – Facebook contact has been great and so useful at times, but there is nothing like meeting people face to face and being able to have a good natter (in between dashing off to catch one or other of the boys!) with someone who knows exactly what we are going through.

The panto – Jack and the Beanstalk – was done by a small travelling company who set up in the conference room where we also ate. As usual, Pudding wasn’t very keen on sitting still but I kept him in my patent Mummy cuddle for most of the time. I’m well practised at wrapping him up in my arms and legs, and it tends to keep him calm in a number of situations. But of course, in a room with plenty of other MPS kids he wasn’t the only one  who wanted to roam, so by the end I let him. The actors did very well dealing with all the pitch invasions; Pudding was very taken by the cow, and kept asking one actor, ‘Where de moo?’ while peering back stage. He also enjoyed dancing and got to use one of his stock phrases, ‘Behind you’, in context!

And then, of course, on Wednesday we had our first home treatment. I was a bit taken back by the size of the delivery we got beforehand, but the homecare nurses soon had it sorted into fewer boxes, and took away the 11litre sharps bin and IV stand that weren’t needed. So we’re just left with one large box of pre-meds and equipment. And the highly expensive, life-altering enzyme in our new medical fridge. Magic stuff!

The ERT itself went as expected – we’ll soon get used to the new routine. True to form, Pudding wouldn’t wear the bag that the pump comes in, so we had to follow him round with it. Mostly he watched TV but he also demonstrated his trademark sudden darts into the kitchen, catching by surprise whoever was on bag duty at the time. When not on duty myself I was able to get on with some house stuff. I was surprised at how emotional I got – after 18 weeks travelling to hospital, something as simple as being able to do the washing up while he was having his treatment was suddenly overwhelming.

The other thing I got done this week was a long overdue sort out of paperwork. Disability Living Allowance, portage reports, inclusion funding applications, My Support Plans, consent forms: a special needs child generates a LOT of paperwork, and I have realised that this is responsible for many of my dips in mood. Some weeks when I have felt on top of things – staying positive and living in the moment – it has all come crashing down when I read the latest assessment; ‘_ _is behind his chronological age in all areas of development…’. I know he is making progress still at the moment, but seeing in stark black print that he is lagging further and further behind his peers is often an unwelcome reality check.

Then coming up next week we have appointments for the wheelchair service, trial screening, and speech and language as well as the weekly ERT. And Twiglet has started badgering me to put the Christmas decorations up…

I find it so hard to describe what Pudding is really like. Sometimes I think of it like having a young toddler in the house, only more so. It can be difficult to get anything done when he’s around and he is very good at hitting his brother and throwing things, but it’s not all doom and gloom. Here are a few snapshots from Pudding-land to give you an idea:

We are playing ball together; Pudding giggling with excitement and thundering after it, before flinging it wildly at my head. (It’s the soft one – I’m not stupid!) He thunders past his table and stops. ‘Oo!’ The ball is forgotten as he starts turning the pages of a book there.

I pick Pudding up from pre-school on Monday afternoon. His key-worker says with feeling, ‘Good luck when putting your own Christmas tree up!’

He brings me a First Words picture book and we snuggle on the sofa to look at it together. We get to the page with pictures of food, and he clambers down to patter into the kitchen. He looks at me plaintively, saying and making the sign, ‘Eat!’ It’s only half an hour since breakfast.

He is asking for the TV to be on. ‘Ee Bee!’ I distract him with a chasing game and he runs off shrieking. 30 seconds later he taps me on the back (well, more of a slap really). ‘Ee Bee!’

I corner him by the door to get his wellies on, and lean in for a sneaky kiss on his cheek. As I wiggle his foot into the boot, he bends forward to touch his lips against my forehead and blows gently. Love his kisses!

I’m trying to hang the washing up to dry. Pudding helps by flinging it across the room. I show him how to put something on the radiator and does the next one for me, then ends up wearing Daddy’s pants on his head while doing a little dance. ‘Ta da!’

We’ve just got in to the house. He spots an unlocked cupboard and pulls out a plastic biscuit cutter and runs off with it. Two seconds later, he’s back, tapping me and saying ‘Where?’. He grabs me by the hand and pulls me to the bathroom where he points to the toilet with the cutter floating in it.  At least he hasn’t reached in to pull it out himself this time!

We’re upstairs during the morning countdown to school run. I’m in my underwear. He climbs into our bed and pulls the covers up. ‘Mummy!’ I look round. He stares back with his big eyes, and pats the pillow next to him. I give in, lie down next to him and get rewarded with the biggest grin. School run can wait for another few minutes. …

Two very good pieces of news at the hospital today.

Firstly, my DNA results are back and I don’t have the same mutation as Pudding, so it was a spontaneous change on his X chromosome. If I did have another son (which definitely ain’t gonna happen!) there would apparently be a slightly higher chance of MPS than in the general population but not the 50% chance of a carrier. It also means that other family members should be in the clear.

Secondly, after 18 weeks, we have finally been cleared for home treatments. We had no untoward temperature rises again today, so the combination of medications and slower infusion rates is doing the job. We’ve been sent home with a bag full of prescription potions, our medical fridge is already in place and assuming there is no hitch with arranging the delivery of the precious Elaprase (enzyme) we should be able to have the treatments at home starting next week.

So no more packing bags the night before. No more waking Pudding up early and giving him breakfast in the car. No more long commute (though this has definitely been easier the last few weeks using a volunteer driver from Patient Transport – these people are amazing). No more sitting in a hospital for hours. Instead we’ll be here and Pudding will be able to move around more with a mobile pump, while I can get on with other exciting things like the washing up.

It will be sad not to see the lovely nurses every week – but we will be back there again soon for clinical trial screening (more on that another time). And we’ll have other lovely nurses here instead.

And then this evening there’s a letter in Twiglet’s school bag explaining what activities they have on in the run-up to Christmas, and my eye is immediately drawn to the paragraph on the school play – ‘Following each performance we will be collecting donations to go to the MPS Society, a charity very dear to one of our families.’ Of course, I cried again. Lots of tears today, but happy ones for a change.

Now excuse me while I go shout from some roof-tops and do a tap-dance round the living room. Can you tell how happy I am?!

If…and I have to keep repeating this one to myself… if, Pudding’s temperature behaves itself again this week, we will be able to start having infusions at home.

Trying so hard not to get too hopeful about this one.

In other news, I saw a lovely man at the hospital last week. He made me laugh, and he made me cry. I’ve never seen a psychologist before, or indeed anyone working in that sort of field, so I wasn’t at all sure what to expect. I’ve had times over the last six months when I’ve wondered whether I was depressed. Mostly I’ve come to the conclusion that I’m not – just dealing with something monumental. But of course, I’ve got no real experience, so it was good to have someone outside it all to say, ‘You’re reacting entirely normally.’ And because he has worked with the Willink team for many years, he knows all about MPS, so I didn’t have to explain a thing.

It was such a relief to meet someone new, and have him look directly in my eye and say what a horrible thing it is that we’re facing. So often people mean well, but just don’t know what to say, and I find myself helping them out, brushing aside my own feelings to ease the conversation past this uncomfortable bump. Not that I blame them at all – I know I’d have had problems myself before all this. This is, I suppose, the benefit of all the talking therapies – the chance to be freed of all the constraints of normal conversation. To say things that you keep hidden from almost everyone else. To be challenged.

He tried, and failed, to get me to say out loud that I was doing a good job. And I was surprised by how difficult I found that. Because I know deep down that I really am. The session reminded me of all the times in my life that I’ve lacked self-belief. Times when I have taken the easy road to avoid having to face things. Times when I have resisted change. Times when I was scared that I’d be found out as a fraud who doesn’t really know what she is doing.

But this time, there is no easy option. I can’t avoid this one. I know I will do a good job. For my family, for both my boys. And for me. Because if I don’t, things would be a whole lot worse for everyone.

So yes, Stewart, although I may still have difficulty saying it out loud, I am doing the best I can. And yes, I will ace it.

I’m sure that any parent of special needs children will tell you that it’s a roller-coaster of a life. Probably even more so when the diagnosis is of a progressive, life-limiting disorder. That’s certainly been my experience so far anyway. I’ve been through many emotions in the last few months: disbelief, dawning realisation, depression, anxiety, anger, devastation, guilt…  You name it, I’ve been there.

Last week was not a good one, but this week I feel lighter again. A meal out to celebrate the end of the play I was in. A bit of sunshine. Talking with a good friend. Baileys hot chocolate. Cuddles with my boys. All these things make a difference.

And then there was the news. Often full of horrible depressing events here and abroad – so I confess I mainly avoid it. But lately there have been two wonderful things pop up in my Newsfeed. First was a young girl with leukaemia who has shown good progress after a pioneering treatment involving gene editing. And second was the announcement that researchers have used ultrasound and microbubbles to breach the blood brain barrier and allow a brain tumour to be treated. Obviously both these cases are very different from the situation we are facing, but it’s a start. Medical advances can and do make huge leaps.

So for the first time since July, this week I looked at Pudding and said, ‘You’re not going to die.’ OK, so I know I can’t really affect the outcome. Whether a cure comes in time for him is still very much unknown. I’m not kidding myself.

But as Andy Dufresne says in my favourite film, Shawshank Redemption, ‘I guess it comes down to a simple choice, really. Get busy living or get busy dying.’

When I look at Pudding, I see a boy who is busy enjoying life with such vitality and commitment. His warmth draws answering smiles from anyone, and he always has loads of hugs to offer.

It may not always be this way, and I know there will be plenty of times that I rail against this horrible condition; when I will see those who are becoming friends lose their battle against it; when I resent anyone who has never been a regular visitor to a children’s hospital.

But for now I choose to remember the words they told me when I first rang the MPS Society – he is the same little boy that he was before diagnosis, and enjoy him for that.

I choose to get busy living.

One of the questions I found the most difficult to answer was back in August. Pudding was having a slight reaction during his infusion, so they needed to get a doctor to sign off some extra meds.

She checked him over, then said, ‘So he has MPS I?’

‘No. MPS II’

‘And how is that affecting him?’

I looked at her, utterly confused, and garbled something about a range of different things but mainly his development. Five minutes later I told the ERT nurse what she had asked, and she explained that all the doctors change over jobs in August, so it would be someone who had never come across MPS before. It brought home to me that now I will always be more of an expert on MPS than the vast majority of people I come across, including medical professionals.

Having completed three months of enzyme infusions and been through most of the initial assessments, now seems to be as good a time as ever to answer that question though, and take stock of the effects so far.

Physical appearance – he has the usual Hunter appearance – chubby cheeks, large forehead, broad nose – that tends to get more obvious as they grow older. His tummy is big due to the increased size of spleen and liver (this may reduce with the ERT).

Ears – those with Hunters are particularly prone to hearing problems. Pudding had persistent glue ear both sides. Since grommets were done in August, his hearing has definitely improved, and they will probably have to be repeated again in the future.

Skeletal issues – He is tall at the moment; without treatment growth would normally slow down around now and stop at just over 4 foot, but with ERT it will probably continue to give him a normal height. Movement at his hips and shoulders is reduced; this doesn’t give him many problems at the moment, but he is often stiff after a period of inactivity and it contributes to his characteristic running style! At rest, Pudding’s fingers tend to curl over slightly though they can still straighten at the moment. Whilst ERT stops further build up of GAGs in his joints it cannot reverse any damage already done, so all these problems are likely to worsen. Clawed hands are very common, along with carpal tunnel issues. X-rays didn’t show too many problems, but we are awaiting an MRI which would look in more detail at the formation of the vertebrae in the neck.

Teeth – widely spaced and odd shapes. Brushing is a challenge due to his inability to stay still!

Airways – he has always been a noisy breather, particularly at night. A sleep study showed quite a lot of dips in oxygen saturation, but this has improved since adenoids and tonsils were removed in August. His airways apparently didn’t look too bad, so hopefully diagnosis came before too much damage on this area. Smaller airways and shorter necks in Hunter Syndrome can make it challenging for anaesthetists during a general anaesthetic, so this will remain something that we worry about.

Heart – his heart muscle is slightly thickened and some valves affected by buildups of GAGs but so far the heart is still doing its job effectively.

Bowels – doing a lot better since the start of ERT!

Brain – this is the biggy. We know now that Pudding has the neurological form of MPS II (Hunter Syndrome). Essentially this means that without further treatment that can reach the brain he will continue to gain skills slowly for the next few years. His learning will then plateau, and both mental and physical abilities will decline as his brain loses control of various functions. This will affect the following:

Speech and language – while Pudding still tends to use single words and a lot of babble, phrases are beginning to surface. ‘Where’s the baby?’ was a recent sentence that he wowed me with. Vocabulary is improving and his understanding is so much better than a year ago when we started down this route to diagnosis. We’re using and trying to teach him Makaton, to help him improve his communication and leave something if he loses his speech later on.

Behaviour – discipline can be really difficult. Lately though there have been a few breakthroughs – the word ‘sorry’ can even be heard sometimes. In one of the leaflets I have it describes younger children with Hunters as ‘cheerful, overactive and strong’. Pretty accurate! Behaviour can get a lot more unpredictable and aggressive as the disease progresses.

Seizures – we haven’t had any yet, but they occur in about half of severely affected children so it is one more thing to look out for as the years go on.

I could write more, but that is venturing into the realms of the future rather than what we can see right now. Whilst we obviously worry about all that we are facing, there are still hopes at the moment. Hope that we can get on the clinical trial, hope that brain involvement can be slowed or halted and hope that gene therapy can eventually provide the answer. They are small hopes – it pays to stay realistic – but we have come so far already. I look at Pudding these days and know that things could be so much worse. Ten years ago, ERT was only in trial and it has made such a difference to many. Who knows what the next few years could bring?

 

Every time I think I’m coping well again, it seems like I get hit back down. I’ve avoided posting on here in the last few days because I was well and truly in the slough of despond. Nothing seemed worth the effort and I was crying every day.

My hair was shaved off, my release of doing the play was over, trips to Manchester would be continuing and we would have to stay there for longer as the infusion rates would be slowed down. Filling in a form the other day I was stymied by the question ‘What do you want for your child in the next 3-5 years?’ I sat and stared at it for minutes, tears gathering again.

I couldn’t write on here. Even I was getting fed up of my misery, let alone any poor souls who are reading this.

A few other MPS mums have said to me recently that the first year is the hardest. I have to keep reminding myself that it is only four months since our world was turned upside down. Six if I count from when the pediatrician first mentioned MPS. It’s no wonder that it is hard still.

So why am I writing now? I’m on the up again. And perhaps strangely it’s because of the trip to Manchester yesterday. Yes, it was a longer day – we set off at 7.15am and didn’t get back till just after 6.30pm. Yes, it’s hard at times to keep Pudding content while stuck on a bed for over 4 hours. But the upside is I got to spend the day with two wonderful people. I remember many moons ago there was a TV series about nurses called ‘Angels’. I never thought much about that title at the time, but now I know how true it is.

All the team that we get looked after by in Manchester are amazing. They help parents like me through the most difficult times. They understand. They listen. They push me out the door to go get a drink. They hold me tight through the tears. They look at Pudding with love and tenderness. They manage appointments and do everything they can to make things easier.

I’ve always been a middle ground sort of person. Ask me to rate a service and I’ll never give the extremes, but would always choose the less definite ‘good’ or ‘poor’. Yet, filling out the feedback form for their upcoming assessment by the Care Quality Commission, there was no doubt in my mind that 5 out of 5 was the minimum that I could give on every single question.

I honestly don’t know how I’d have got through all this without their support. Angels indeed.

Since having the MPS diagnosis I’ve noticed how the little things take on so much more significance.

Driving past our local hospital always gives me a twinge of  anxiety even though we hardly go there at the moment. I over-analyze people’s reactions. I watch out for any new symptoms intently; is this something that could be a problem?

So this morning he still had a cold – should we go to Manchester? We did. And part way through the ERT his temperature went up to 38.6 degrees, so the infusion had to be stopped. Not in itself a disaster, but it has repercussions – longer until we can start having treatments at home, more trips to hospital.

But it works the other way too. Yesterday, when Pudding said ‘Me!’ to let me know that it was his turn to sit on my knee I couldn’t have been prouder. When he is watching TV and reaches out to stroke his brother’s hair my smile could fill the whole room. And when my poorly boy still says thank you (‘Dyu dyu’) before starting to drink the milk he’s been demanding, I want to hug him till the world ends.

I’m learning to appreciate the little things more. Instead of getting frustrated about what we couldn’t do as a family or worrying about Pudding’s abilities, I’m letting go. I’m loving lazier mornings at the weekend, tumbling together on the bed, enjoying my family for what they are. Little things can be treasures as well as minefields.

I’m shaving my hair off to raise money for the MPS Society. People tell me I’m brave, but I’m not.

I’m doing it because I feel like I have no other choice. I want to raise money to ensure future research into these horrible conditions, and shaving my hair, though unpleasant, is the easy option really. If I was brave I’d do something I hated, like running, or I’d jump out of an aeroplane.

When I started writing about our new life with Hunters, it was a private diary and I used it to blurt out all my innermost thoughts. As a blogger it’s easier to suppress the difficult emotions; to portray myself as a better person. But I made a promise to myself to be honest. So here goes.

I want to raise awareness of MPS, and shaving my hair will certainly have an impact and make people notice. But also I know that it will be me who is noticed. So am I being attention-seeking? Quite possibly. As a life-long introvert that is not something I normally crave, apart from when on stage. But right now, I feel desperation sometimes to reach out to people – to grab them by the arms and say ‘Can you hear me? Do you understand? This is what we’re living with.’ I want their care and concern. I want them to talk to me, to ask how we’re doing. Without this attention, I feel almost as if I would disappear from view. Not waving, but drowning.

People tell me that I’m brave for facing this condition the way I am. I can talk calmly about its causes and life expectancy, make light of it with, ‘It’s all pretty pants!’ But when I see pictures of children further along in their disease progression, I know that one day it may be Pudding in a wheelchair; when I think about the details, I know that there will come a time that he will no longer be able to swallow safely and will have to be fed through a tube; and when I see posts from mothers who are already mourning the death of their child, every part of me thrusts away the thought that one day that will be me. At those moments I am not at all brave. Just very, very scared.

I cling to the hope that he will get on the clinical trial, that the new treatment can halt brain involvement, that gene therapy will provide a longer-term answer. But on an entirely selfish note, I dread the continued trips to Manchester and further disruption to my normal life. So when people use the ‘b’ word, I feel even more of a fraud than usual.

But perhaps, just perhaps, I’ll feel a little braver when I hit ‘Publish’ for this post….

Over the last few months I’ve been rehearsing for a play. Tonight is the opening night and I won’t be on stage.

That may seem like a strange reason to be grateful but let me explain.

I’ve always enjoyed acting – that chance to get up on a stage and be someone completely different, to move and entertain an audience. Since having children I’ve not been able to do much, so I was dead pleased to be cast in the ensemble for this play back in June. Then, before even the first rehearsal, we got the positive screening result for MPS. By the second cast workshop, we’d heard that it was MPS II and Pudding was started on enzyme replacement.  At that point I was hopeful that come the performance weeks we would no longer be travelling to Manchester; I knew that I would struggle to perform after one of those exhausting days, let alone having the worry of getting back on time.

Rehearsals were not always easy; sometimes it felt like the difficulties of the battle scenes were echoing my own struggles and more than once I had to go and find a quiet corner. But unlike my life at the moment, acting is generally much more predictable – you stand where you’re told to stand, say your lines and someone responds.  Sometimes things go a bit wrong, but we work together to cover a missed line or awkward entry. And for a few hours each week I was doing something for me. Something unrelated to development targets, treatments and worries about the future. So when it became clear that home infusions wouldn’t be able to start as early as I’d hoped, there seemed to be no other option but to pull out of the cast.

But the wonderful director told me we could find a way around it. Other cast members are taking over my lines and actions on the nights I can’t be there, and once again I get to be part of something special. On stage I won’t be a Hunters Mum. I’ll be a noble, a soldier, an attendant, a munition worker. Not tonight, but certainly tomorrow, and for that I am grateful.

So thank you, Lasses, and all the crew. Hopefully you all know how much this means to me.

Attack!