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!

It’s been an odd few days. Mostly in a good way.

Most significantly, I’ve been feeling a bit more stable again. Although this pathway through the Hunters diagnosis is full of rocky places and stumbles, every so often we get to the top of a small hill and the view makes up for some of the hard bits.

Hubby came with me to Manchester on Wednesday so we could talk to the consultant together about Pudding’s future and the possibility of getting him on the trial of intrathecal enzyme. This introduces the enzyme directly to the spinal fluid in the hope of reducing deterioration of the brain and possibly even improving function. It would involve more trips to Manchester and, if he is randomised to the treatment arm of the trial rather than the control, more interventions including general anaesthetics, so it’s not a decision to be made lightly. The first phase of the trial gave very mixed results, so we can’t hope for too much at this stage. But if he’s eligible we will likely say yes. Even if it doesn’t benefit Pudding, it may benefit others in the future. And we know the inevitable outcome if we do nothing…

Next thing on the list was a visit to our nearest special school. Pudding is due to start school next September so we’ve begun to think about where is best. Special school? Mainstream? Mixture of both? Another difficult decision to think about.

Yet yesterday morning before the visit I found myself humming while sorting the washing out. I had made contact with another Hunters mum after seeing her blog online, and then happened across someone else’s too. By the afternoon I was added to a Facebook group, and had friend requests from 10 others. It meant reading some pretty difficult posts about boys further on in their disease progression, but somehow that mattered less than suddenly being part of this community who knew exactly what I was going through too.

Then this morning the first thing I saw online was a comment from a complete stranger on my fundraising page. She had seen our story in the local press and wanted to make a donation. That fills me with hope for the future of our boys.

And perhaps best of all, Pudding is doing really well with his language at the moment – playgroup report that he is echoing more words and using some new ones spontaneously. He has even said a verb (‘pull’ to ask for help with his banana, and when singing ‘Wind the bobbin up’) and a personal pronoun (‘me’ pointing to himself when we ask where he is). Huge milestones!

I know I’ll probably be hit by another body-blow soon, but it is becoming easier to deal with them. We will get through this.

Of course it’s a horrible cliche that love conquers all. I’m not sure I’d agree with that, but I certainly know that love has done so much for me in the last few months, and particularly this week.

Love comes in Makaton lessons that help a grandmother communicate with her youngest grandchild.

Love comes in a bunch of yellow roses, as beautiful and sunny as Pudding himself.

Love comes in an acre of chocolates sent to save this committed vegetarian from a bacon sandwich.

Love comes from another mother on the playground who held my hand while I struggled not to cry in front of the children.

Love comes in a list of DIY jobs done by a friend despite running a marathon the day before.

Love comes from friends who share my fundraising page with others, and their friends who donate despite never having met me.

Love comes from my dear husband who, despite being shell-shocked himself, can make the world seem simpler and better with just a few sentences.

Love comes from a big brother who wants Pudding to go to his school so he can still see him during the day.

And love comes in a little boy who takes such joy in dancing and singing round the living room trailing a streamer of loo paper he has just filched from the bathroom. A boy who can make us smile and laugh even now.

I feel like over the last two days on an emotional level I’m right back where I was in June and July. Tears are never far away, and it is difficult to carry on with the everyday things such as getting dinner ready, doing the shopping or washing up.

I want to disappear under the quilt and say to hell with it all.  I want to swear loudly in public. I want the comfort of a bacon sandwich or acres of chocolate.

I want the most difficult decisions we make about Pudding’s future to be which subjects he chooses at GCSE, not the choice between mainstream or specialist schools. Or whether we enrol him on a clinical trial.

I want the sun to stay out and keep the gloom of winter at bay.  I want to have a conversation with my son. I want him to walk to secondary school with his mates.

I want to choose our next house on the basis of which street it’s in, rather than whether there is space for wheelchair access.

I want to go back to being able to enjoy a novel.

I want someone to tell me that they have found a cure and everything will be ok.

I want him to bring his girlfriend home from university to meet me, so I can embarrass him with tales I tell her about his childhood.

I want him to have a quick and easy death.

I want_

I want_

I want him to live.