Paradise

On By huntersmumIn familyLeave a comment

I have a neck!

(How stupid does that sound? Nearly 46 years on this planet and she’s only just realised…)

The truth is I’ve been walking around since Monday morning like a swan with an elegant long neck rising effortlessly out from my shoulders. I had forgotten what feeling truly relaxed is like. The norm for me had become anxiety and stress, both emotional and physical – pushing the buggy, coercing a reluctant child up the stairs, carrying the heavy weight of an MPS diagnosis and all that it entails.

So what has changed? The paradise on earth that is Martin House Children’s Hospice.

When Pudding was first diagnosed, several people mentioned Martin House to me, but I pushed that idea away as fast and far as I could. To me, a hospice meant dying children and that was something I did not want to think about. Even when it was explained to me that many families go there for respite rather than end of life care, there was a barrier that I just couldn’t cross; it was one more thing on the path to acceptance of a life-limiting condition.

Earlier this year though, I was finally ready to take that step and got in touch. We went for a first look round in May, and ever since T has been asking ‘When are we going back to Martin House?’

Hubby looking out from a balcony at the grounds of Martin House at several rabbits on the lawnIt’s hard to describe what a special place it is. Sitting here I’m stuck for words. But I can close my eyes and see… Rabbits on the lawn. Jars full of cake. Paths that twist and turn through peaceful gardens. Communal tables set out for dinner. A rainbow of children’s faces on the wall. A bench in the sunlight. And I can hear shrieks of delight from T as he plays in the water with other siblings.  Birdsong. The patter of Pudding’s feet when he takes a break from TV to run to me for a cuddle.

A carer is allocated to each of the children to give parents a break from the constant monitoring of vital signs or medications. In our case, it was freedom from the need to be on constant high alert. It’s only when we got a break from that – a proper break, not just a few hours while he’s at school or asleep – that I realised just how wearing it is.

It was odd at first to let go. After all it’s second nature for me to jump out of my chair to follow him when he runs. I constantly assess his mood to second guess whether he’s about to hit anyone or throw something. But for the whole weekend someone else was there to do that. They even sat with him at meal-times so we could eat our food without having to persuade him to eat or stop him from cramming too much in.

A path winding through some trees and under a pergola. Hospice buildings in the background.So I sat in the sunshine and read a book, played with T and the other siblings, and chatted to other parents. I was so relaxed I barely took any pictures.

As I expected, we saw the difficult stuff too. At least one of the children staying didn’t have much longer in this world. And while we there a group of bereaved siblings were having a get-together. But the atmosphere is definitely not a sad one. It’s a welcome and warmth. The feeling of being well looked after and peace. A little slice of paradise. A weekend that meant more to us than I thought any holiday could.

As we drove away on Monday morning back to normal life, T asked ‘When are we going back?’

As soon as possible please….!

(Martin House survives on the kindness of volunteers and donations. If you would like to contribute to their wonderful support of families dealing with a life-limiting condition, you can do so here.)

Kindness

On By huntersmumIn familyLeave a comment

So you may have gathered that the last few weeks haven’t been the easiest – sickness bugs, half term, surgery, virtual house arrest after surgery (and don’t even mention politics!). But I’ve been carried through by the kindness of … well, almost everyone.

Of course, there will always be the exceptions, the ones who judge or who don’t make the effort to consider that not all children come from the same mould. We had one of those in half term when we visited a cathedral. I approached the information desk to ask for the disabled exit (because yes, Pudding was not happy, and yes, he was making sure everyone knew about it). The lady turned round from a conversation with a smile that didn’t reach her eyes and told him to ‘Shush. Please!’ before waving us to a lift which wasn’t what we wanted.

But I won’t waste my ire on people like her. This post is about the good ones, the people who show their kindness through everyday actions. Like the other staff there who went out of their way to try and engage Pudding in activities despite his difficult behaviour. Maybe a job to them but welcome inclusion to me.

The very next day the boys and I were in the playground at a stately home. After spending ten minutes trying to escape, of course Pudding didn’t want to leave when the transport came. When he decides against something it is becoming more and more difficult for me to manage him physically. He is now half my weight and very strong. I was rescued by a complete stranger who offered to take the buggy while I persuaded /coerced Pudding to move. Such a little thing for someone to do, but such a help to me.

Pudding in a check shirt frowning slightly at the camera.We met another friend there and while we followed a trail around the gardens, she said to me, ‘I’ll push the buggy for a bit’. Such a little thing for someone to do, but a welcome rest for me. (He’s heavy!)

One of the added problems about Pudding’s appointments in Manchester is having to work out what happens with T while we’re away. The day of surgery, a friend offered to pick him up from school, take him to the earlier gym class her son goes to, and then wait around until T’s class had finished. Yet another friend picked him up from school the next day and held onto him for an extra hour when we were delayed getting back. A short(ish) time for them, but a release from worry for me.

MPS has brought us so many trials and tribulations, and a world that I wish I had never heard about. But it has also brought the ability to see a side of people that I might not really have been aware of otherwise. My everyday heroes. Not just family or long-term friends who are bound to us with ties of blood and years of shared experience, but people who’ve got to know us since Pudding’s diagnosis and who haven’t run a mile at the sight of an unconventional set-up. Not forgetting the kindness of strangers.

Kindness matters. It really does make a difference. Next time you see someone struggling and wonder whether you should intervene, just offer that help. It might be a small inconvenience to you, but could mean the world to them.

Surgery

On By huntersmumIn hospital3 Comments

Surgery this evening.

After finding out in March that the port that delivers Pudding’s trial medication to his brain is no longer working properly, he is having it replaced today.

This morning I chased him and let him climb on my back  and tickled him until we were both in helpless giggles, as I knew we wouldn’t be able to do that for a while.  I watched him eat a very early lunch knowing that in a few hours he would be looking at me with those accusing eyes and repeatedly asking for ‘bibit’ (biscuit). He kept running away with the bag I was trying to pack and for once I didn’t get cross or frustrated because I knew that he’s going to feel reluctant to move at all for the next week or so.

Pudding was very excited when we got back to the trial ward in  Manchester. We’ve not been for three months now so he was obviously keen to make up for lost time, running up and down the corridor and shouting ‘Found you!’ at all the nurses. Very cute, but it was difficult to share his enthusiasm knowing that in a few hours I had to sign a consent form for surgery listing ‘permanent nerve damage’ as a potential side effect.

The anesthetists here are fantastic, and experienced with the short neck and difficult airways that Hunter Syndrome produces. I trust them with my son’s life but I wish I didn’t have to.

At 6pm we walked down to surgery with him complaining all the way. It was nearly his bedtime. He was tired and hungry and had had enough. I watched his eyes roll back into his head as the anesthetic took effect. Now we wait for three hours until we can see him in recovery and listen to those pitiful cries as he tries to tell us that he feels rotten and he hurts and he doesn’t know why. And I’ll feel helpless because I can’t explain to him why he needs to go through this.

We’ll stand ready with the sick bowl and obsessively watch the SATS monitor over the next few hours. The TV will stay on for a week and we’ll check his dressings for any leakage of spinal fluid.

It’s his sixth general anaesthetic since diagnosis almost 2 years ago, and we’ve got used to the routine but it never gets any easier.

Labels

On By huntersmumIn medical2 Comments

I came to a realisation in the wee early hours this morning when Pudding was slumped next to me on the sofa snoring. (Yes, more vomiting. And yes, I’m fed up of the smell.)

I was thinking about the fact that he has possibly acquired some different labels without us even being aware of it.

When he was first given the ‘development delay’ label, I found it very difficult to take on board. It was confirmation of something that I had been worried about for a while – that he wasn’t progressing as well as his peers. It meant he was walking a different path to what I had always expected from my children. And although I had wanted to find out what was going on and had sought help, it was hard to hear those official words. But on the plus side the label also carried with it the hope that things might change – that he would catch up at some point.

Of course he was then given his primary diagnosis of Hunter Syndrome affecting the brain. We have no idea what his potential is under the clinical trial or if gene therapy ever comes available. But he is unlikely to ever catch up with other children his age. Any development he makes will be slow and achievements will continue to be hard-won.

Now he is five years old, health professionals may now be more likely to use the term cognitive impairment or learning disability. And the difference this time is I don’t mind at all. My true realisation as I’m writing this is that it just doesn’t matter. This time it’s the label that is catching up with my acceptance rather than the other way round.

He’s my Pudding, whatever the label.

 

Ups and downs

On By huntersmumIn fundraising2 Comments

It’s been a funny old week. Ups and downs. Tears (mine) and vomit (Pudding). Hopes raised and feelings of despair. Some weeks fly by with barely a worry, and other times even the littlest of things can trigger days of anxiety and low mood.

I’ve said before that I hate it when Pudding is unwell. If he can’t tell me what’s wrong it all becomes a guessing game. At least this time we had some warning: Hubby had gone down with a sickness bug the week before so when I heard a strange cough in the early hours of Sunday morning it was a dash to find out which boy I had to stick a bowl in front of.

Ten minutes later (with first load of bedding in the washing machine) and Pudding was installed in front of the TV where he pretty much stayed for the next few days. Bang went our plans for meeting up with the rest of the family to wow the world with our wearing blue en masse! And also bang went my plans to spread awareness the next day.

Being stuck at home with a grumpy poorly boy watching the rain pour down outside was not guaranteed to raise my mood much. And the added tension of diving for the sick bowl every time he gave the slightest cough didn’t help.

BUT even in the down times there are always highlights. Seeing Facebook turn blue (or purple!) for MPS Awareness Day did help so thank you to anyone who supported that. Thank you to my gym who held a bake sale. Thank you also to the child who told me that my blue lipstick made me look like I’d drawn on my face with pen – it gave me the chance to let your parent know about MPS and my blog. Thank you to Hubby who made it possible to get to my first counselling session (more about that another time) on Tuesday when Pudding celebrated the end of his 48hr exclusion period from school by being sick again. And thank you to all the friends that I whinged at/cried on over the course of the week.

On Thursday we were finally able to send Pudding back to school and the sun even came out. When the sound of renovation work next door became just too much I could escape to the gym to do some writing and giggle my way through an aqua zumba class. And breathe.

Although it never feels like it at the time, the downs are usually followed by ups. I just have to be patient.

 

PS I mentioned on Facebook that we might have a date for the port surgery to be done. Spoke too soon unfortunately. But we hope that it will happen in early June.

Nothing and everything

On By huntersmumIn UncategorizedLeave a comment

In the run-up to MPS Awareness Day on May 15th, the MPS Society is asking us all ‘What does MPS mean?’

Last year I already wrote a long (and emotional) post about what it means to me as a parent. Of course, most of this blog is from my perspective. I share what I’m going through, what I think. It’s my personal journey through the minefields of MPS.

But what about my Pudding? What does he think of MPS? Well, there’s the great unknown. When your child has only limited words, even a simple conversation is impossible let alone an in-depth one. He has certainly heard those dreaded initials often enough in our house, but have they made any impact on him? I doubt it.

He doesn’t know why he has to put up with treatments and needles. He doesn’t know why he can’t talk. He doesn’t know why he is different to the other children in his class. I’m not even sure he realises he is different. 

MPS has sculpted every bit of him. From his big belly, and the fingers that don’t straighten to his broad nose and big forehead. But when he looks in a mirror he doesn’t see that – he just smiles at his reflection in the same open way that he does with anyone else he comes across.

That simple mistake in his DNA that has turned our life upside down for the last two years means nothing to him. And in a way I’m glad. For if he ever gains enough ability to question it, how could I possibly explain?

 

(If you’d like to let the world know what MPS means to you, you can download the poster from the MPS Society website. Share it on social media with the hashtag #WhatMPSmeans)

 

What will you do?

On By huntersmumIn UncategorizedLeave a comment

One hundred years ago Charles A Hunter, a doctor working in Canada, first described the symptoms of Hunter Syndrome. In 2017, there are still children dying from this and other mucopolysaccharidosis conditions. That is why MPS Awareness Day on 15th May is just as relevant as ever.

Every year we ask friends and family to join us in wearing blue (purple outside the UK). Clothes, hair, lipstick, nails – whatever you like really. Last year it was a Sunday, so me and the boys went out to a nearby stately home with Sister, Niece and Nephew, all dressed completely in blue. This year it’s a Monday – so great for making maximum impact at work, the supermarket  or wherever!

The MPS Society have resources such as posters and fundraising ideas to help. You can even change your Facebook or Twitter picture to MPS Awareness. Go have a look and get involved – I’d love to see your pictures on the day itself!

Learning

On By huntersmumIn Uncategorized2 Comments

Not Pudding. Me. It may be a bit of a cliche but Pudding definitely teaches me things.

He is so friendly with everyone he meets, welcoming them with an open heart and no judgement, despite often being on the receiving end of judgemental looks himself. To him, everyone is a potential playmate regardless of age, race, class or any of the other constructs that we use to measure each other against.

Today I took the boys to the playground after ERT – time to get some fresh air after all the medical stuff. When we arrived there were some older girls hanging around so I avoided them and started playing tag with T whilst also trying to make sure Pudding didn’t escape. But within 5 minutes Pudding had zoned in on the others and moved in closer.

I could hear laughter coming from the girls and my Mummy-radar was on high alert. Were they laughing at him or with him? It’s so hard to tell sometimes but I’m getting better at giving strangers the benefit of the doubt. Rather than marching in with suspicious looks, I used some Makaton to him (signalling to them that he is different) and translated what he was saying (‘Found you!’). I then backed off though I desperately wanted to stay and protect him from their potential scorn.

Two minutes later he was having the time of his life with four girls chasing him round the playground whilst they shouted ‘Found you!’, and making him screech with laughter. I was free to sit down and take it easy, smiling at their acceptance of the simple level of play he was capable of.

When they left he cried. And when they came back again a few minutes later they loved his shout of joy.

Pudding’s approach might not always work, but it certainly has more chance of winning hearts than approaching others with suspicion. I’m not sure I’m capable of just walking up to strangers to point at them and shout ‘Found you!’ but his smile is one thing I can learn from and his belief in the kindness of others. Though I definitely can’t carry it off with quite such cuteness!

 

Blank

On By huntersmumIn medicalLeave a comment

It’s been a while….

I don’t know what to write. I feel…a bit blank.

We’re in limbo land again. Waiting for news on a surgery date *. Waiting for news on the NICE/NHS England decision.

And in the meantime, even in a world where I am used to seeing dead or dying children on my Facebook feed, it has been an out of the ordinary week. Seven MPS children have passed away in one week. Seven families are now looking at an empty space where their beloved child was.

I didn’t know any of the families personally – most were living with MPS III, so I didn’t have as much contact with them – yet I have seen photos of some since my early days on the Facebook group. Each death hits our community hard and they will be mourned around the world.

There are still families fighting on though. Families who need the hope of a cure and the knowledge that future treatments will help their precious children.

The government’s own Rare Disease Strategy, published in 2013 states it should “ensure no one gets left behind just because they have a rare disease”. This is one thing I believe they could get right. If you haven’t already, please consider signing this petition to help it happen.

 

* We did get some slightly better news about Pudding’s clinical trial. Last week I was concerned that we had had ten months of wasted blood tests, hospital trips, and so on. Ten months of normal life being interrupted by medical stuff that we have forced him to submit to. However, having checked his CT scans the neurosurgeon confirms that although the portacath is now in the wrong place he believes that Pudding will still have been receiving  at least some of the dose in a roundabout way. He won’t be given another dose though until the portacath has been revised.

 

An end to hope?

On By huntersmumIn medical8 Comments

I like being right. Most of us do, don’t we?

Yet there have been a few too many times in the last few years where I have hoped, desperately hoped, that I was wrong.

When our paediatrician first mentioned mucopolysaccharidosis to us, I of course googled it. I saw pictures of other children with this progressive disease and I read the symptoms and I knew this was the answer as to why my Pudding was not reaching his development targets. I hoped I was wrong, but I was right.

He started on weekly enzyme replacement therapy to halt the build up of waste products in his body and we gradually got used to our new normal.

They checked his DNA to see whether he was likely to have the severe form. I had done my reading and I knew that those on the milder end of the condition rarely had development delay. I watched my son having reactions to this new enzyme in his body, I tracked every struggle and his difficulties gaining new skills. Deep down I knew that he had the severe form that meant a gradual loss of skills – the ability to walk, talk, even to swallow. And death in his teenage years. I hoped I was wrong, but I was right.

Pudding got on a clinical trial for a new form of the enzyme to help his brain. It has already halted the disease progression in a number of boys and we knew it would give our son a chance at life again. The drug is delivered by a special portacath that lies just under his skin and connects to the space around his spinal cord. For a while now I’ve been worried that this wasn’t functioning properly and a CT scan confirmed it this week. The dose hasn’t been getting to where it is supposed to. I hoped I was wrong, but I was right.

Yesterday I thought we were facing another surgery to fix this and I was devastated but today my fears are much worse. Today I heard that from the 1st April, at incredibly short notice, a cost-effectiveness threshold is being brought in by NICE and NHS England for orphan drugs (the name given to drugs that are developed for ultra-rare diseases like MPS). So even after Pudding’s port is fixed, even if the trial has all the data it needs to show success, even if it receives approval by the European Medicines Agency, someone in a suit will decide – based on limited patient numbers and data – whether my son will receive a life-saving medicine or whether we will watch him gradually be taken from us, skill by slowly-disappearing skill.

I have got through the last year by refusing to believe my son will die, and now even that is being taken from me. Writing this has been so difficult as the computer screen keeps disappearing behind my pesky tears that won’t stop coming.

This is not just our story but the story of any family who has been devastated by rare disease. A life-limiting illness is hard enough to deal with. Yet knowing your loved one has a life-limiting illness for which there IS a treatment available which you may not access is harder still.

I hope that if enough people write to their MP in the next few days we can get this decision paused until the impact on families like ours can be properly assessed and considered. Please, please, please prove me right this time.

Update: I have spoken to the office of my MP this morning (Julian Sturdy, York Outer) and he will be making representations to NICE, NHS England and the Department of Health on our behalf. Thank you so much to everyone that has already shown their support. The more MPs that do this, the better.

Further information:

MPS Society press release

Information from the Genetic Alliance