Video

When I started this blog I chose to make it semi-anonymous, not using names or making our location clear. It felt important to keep the family’s privacy, particularly as T might not want things shared when he’s older.

Yet I also want to raise awareness of MPS of course, and sometimes those two aims collide.

A while back we were approached to take part in a documentary being filmed by a final year film student. I agreed, knowing that it would be pretty much impossible to not use names in something like this. But after all, if it looked rubbish and I hated listening to my voice I’d never have to share it.

It isn’t rubbish, and I’m not actually wincing when listening to myself. Hopefully it does a good job at capturing the highs and lows of living with a Pudding.

I’ll carry on with the pseudonyms because it’s habit now, but if you click on this link here we all are

(Thank you, Josh, for doing an amazing job. Hope you get good marks!)

Looathon

The theme for this year’s MPS Awareness Day on May 15th is ‘My MPS Hero’. I think most of you will be able to guess who that is for me!

But today my heroes are completely different.

I’ve mentioned the campaign to get more Changing Places toilets installed before. Although provision is growing, there are still however only 1104 in the whole country. To put that into context, research suggests that there are over a quarter a million people with severe disabilities who cannot use a standard accessible toilet and need the extra facilities that a Changing Places loo provides. A quarter of a million adults and children who have no choice but to either stay at home, sit in their own waste or be changed in inadequate conditions.

Today to highlight this issue there is a fantastic group of people sitting in a Bathstore shop window in Baker St, London with their pants down. Shocking? Not as shocking as lying your child on a toilet floor.

Some people have criticised this way of raising awareness, saying surely it’s better to put together a petition, speak to government and try to get the regulations changed. But do you know what, all those have been tried already. Maybe this way, people will actually sit up and take notice and wonder what it is really like to have no rights to dignity. After all, any one of us could end up with a life-changing disability and be in this situation too.

looathonAs Sarah Brisidon, the pants-tastic organiser of this event says, she’s doing it ‘because my little boy (& every disabled person) deserves more than a toilet floor’.

If you want to get involved and can’t get down to Baker St in person to gawp (um, I mean support), you can take your own #looselfie and share on social media using the hashtag #Pantsdown4equality

Here’s mine! It’s only a small contribution, but the real heroes are those who keep on campaigning for change and will go to almost any lengths to make it happen.looselfie

 

PS. Once you’ve finished celebrating these heroes, don’t forget to wear blue on 15th May for MPS!

Conference

Timetable for the MPS ConferenceQuite a few people commented yesterday about the nice weather we’ve had this weekend. I know there was sunshine but I barely saw it as I was sat indoors in a dark room listening to presentation after presentation at a conference.

Not most people’s idea of fun, but I loved it. Because this was the conference organised by the MPS Society. It gathered together individuals, families, clinicians, surgeons and experts on mucopolysaccharidosis and other related conditions in the Hilton Hotel, Coventry. The whole hotel to ourselves, so no-one around to raise eyebrows at the wheelchairs dancing through reception or a child trying to make a break for freedom being chased down by a harried parent. From the moment we were greeted by the friendly MPS staff, we knew we were amongst family.

Pudding smiling up at camera before climbing into the car seat.

There is no doubt of course that living with MPS can be a stressful business, so the weekend started off with a session on mindfulness which Hubby found very useful. T and I managed to sneak in a visit to the hotel pool and then we were ready for dinner, the kid’s disco party and the chance to get to know other families. It’s a slightly surreal experience to meet people that I’ve only ever seen in photos until now, and greet them like long-lost friends. But that’s what it’s like when we’re tied together by this bond. MPS is no respecter of age, background, education or race and it forges close friendships that last through the years.

On the Friday evening we also got to meet our volunteers – wonderful wonderful people who gave up their weekend to take our children off and give them a fantastic time while we sat and listened to all the presentations.A few capsules on a ferris wheel It was a little nerve-wracking to send a challenging child like Pudding off with a complete stranger but I cannot sing their praises enough. For the brief hour that I saw T on Saturday – in between their trip to Drayton Manor and the evening entertainment – he talked non-stop about their volunteer and how great he was.

On to the main business of the conference itself – talks on all aspects of life with MPS, from cardiac complications, behavioural issues through to new treatments round the corner. Some of the presentations weren’t for the faint-hearted; Hubby had to look away when faced with slides on carpal tunnel surgery (not me, I find that sort of thing fascinating)! Some were more challenging on an emotional level – looking at Pudding’s future face-on can be a scary thing. And then there were the inspirational ones, like a teenager talking about living with MPS I (Hurler-Schie) who refuses to let it define her.

Air-con vents on the ceiling of a coachThere was more emotion at the Gala Dinner on Saturday when awards were presented to those who’ve made a difference to the MPS community. People who’ve gone above and beyond to raise money, campaign for treatment or support others. I might have cried just a smidgeon. I blame the wine. Afterwards there was time to let our hair down and have a go at some funfair games while the childcare volunteers continued their stirling work. We even got a little goody bag with items donated by a few companies.

The weekend was inspiring, disheartening, informative, tiring, relaxing and wonderful, and I can’t wait till the next one.

(The photos I have are mainly alcohol-fuelled Saturday evening ones on my phone, so I am illustrating this post with T’s slightly random pictures!)

Nothing and everything

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?

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

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!

 

Rare

When you leave your house today, as you go to work or the shops, look around. 1 in 17 people could, at some point, be affected by a rare disease. In Europe that’s defined as one that affects fewer than 1 in 2000 people.

So how do you spot someone with a rare disease? The man jogging past you may need to take daily medications due to Addison Disease; Charcot-Marie-Tooth disease might be the reason that lady is taking a rest on the bench; the child over there may be behaving ‘strangely’ because of his Tuberous Sclerosis. You may even see someone with 3-hydroxy-3-methylglutarylCoA synthase deficiency, though that’s unlikely as there are only 9 reported cases.

The point is that even though some of them are vanishingly rare, rare diseases added up together are more common than you think. But also they are not always easy to spot, unless there are obvious facial features or mobility aids. At some point it could be you, or a friend or a loved one who gets hit with a bewildering diagnosis.

Two years ago I had no idea about World Rare Disease Day. Nowadays though my Facebook feed is pretty different than it used to be; it is populated with pictures of other boys who also have MPS II (Hunter Syndrome), boys who look just like my Pudding. You see, when your child has a rare disease and you find your community, suddenly it doesn’t feel quite as rare. And on this day, we join together to shout a bit louder and raise awareness of these conditions that have limited patient groups and therefore limited understanding and treatments for them.

And today I celebrate rare. Yes, rare can still mean isolation and struggle and difficult times, but to me it also means this gorgeous smile which certainly isn’t rare in our household.

So today, take a few moments to think of us, share this post and show that you too Care about Rare.