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.

Healing for the Soul

I haven’t posted on the blog for nearly 2 weeks. Not the first time that it’s been that long but it does feel a bit weird. Sometimes gaps have been because we’ve been busy. But sometimes it’s because it can be hard to admit to what I’m really thinking.

Hard thing to admit # 1: I’ve been struggling with a low mood lately. If I’m honest with myself, I’d been struggling since Christmas. I’d been so pleased with myself for having things on a relatively even keel after the emotional trauma of diagnosis year that the dip felt like a failure. How could I feel bad when other people have it so much worse? How could I have a lovely time with friends and then weep as I drove away? How could I have so many things on my to do list, yet get home and feel the hopeless inertia take over?

It wasn’t as if anything major was going on, just the ongoing stresses of daily life with Pudding, worries about his future, fears about the new politics of fear and division, inability to sort out other people’s problems. Just the standard cares of the world really. In the end I burst into tears in front of our homecare nurse and admitted that I’d cried every day for the last two weeks.

The world didn’t end when I admitted that “failure”. In fact, just saying the words helped immensely. I don’t have to be ridiculously strong the whole time. Caring for a child with additional needs IS hard. And I am looking into finding a talking therapy and addressing some of the underlying issues that have been worrying me.

Hard thing to admit # 2: I enjoy having time away from Pudding. I have six hours a day of course when they’re at school. But that goes surprisingly quickly when you’re tidying up and doing other routine stuff.

T and I just had a weekend away with my family up North. As soon as we got to the Hotel of Mum and Dad (I wrote about this before), T ran off with his cousins to the other end of the house and I could relax knowing that I didn’t have to be on constant alert. We had a civilised trip on the train to visit more family and eat lots of lovely food. A lovely time for relaxation.

And the highlight for me was a trip to the beach. As I emerged from the dunes on a beautiful spring morning my soul opened wide and drank in the sand, the sun and the endless sea. ‘I’ve missed this!’ I shouted. I meandered along, picking up shells, while the others kicked ball and ran down sand dunes. The remaining stress ebbed away.

The healing won’t last forever, but it’s helping me get through half term with relatively little shouting and no tears (well, not from me anyway). Maybe the learning point from this is I need to add in a little dose of nature to my routine every so often. Landscape that doesn’t throw things or hit or judge. Landscape that just is, and is beautiful. Healing for the soul.

I didn’t take any pictures on the beach so here are some spring flowers instead.

PS. Dr Google told me that I didn’t have depression, and he was right, but ignoring my own needs could have led to it getting worse. If anyone reading this is struggling themselves, please, go talk to someone – a good friend, GP, whatever. Don’t feel you have to stay strong whatever the cost.

My Valentine

Last year in February, the month of love, I wrote a post and quoted a Wet Wet Wet song ‘Love is all around me’. I read it again recently and I’ll be honest, I had a lump in my throat.

The love and support I’ve had from those around me have made so much difference since Pudding’s diagnosis. Without those family, friends and professionals who care for us in a variety of ways, I’m not sure I could have coped. (There are still times I don’t cope so well but that’s another story.)

This year I’ve been thinking more about the contrasts of love. Leaving Hubby out of it, the two great loves of my life are my boys. (Oh, and chocolate, mustn’t forget chocolate.) Yet, the love I feel them is not the same.

I look at T with pride and awe at his imagination, his bright mind and classic looks. I marvel at his growing independence and get so much enjoyment at sharing my old favourites and new experiences with him. My heart swells and I think it can’t be possible to love anyone as much as this.

And then I turn to Pudding who has MPS written all over his face and I melt all over again. Yes, I feel pride at every little achievement he makes, steps that would be easy for most other children but that are hard won for him. But my love for him is both softer and fiercer. I want to wrap him in my arms and protect him from the world. His chuckle can turn around a grey day and an unexpected kiss from him is worth a million dollars.

Sometimes after making me angry T has told me I love his brother more than him, and maybe other people think that is the case too. I don’t think it’s true – yes, I lose my temper with T and in the heat of the moment may not always like him. But I still love him. And with Pudding my feelings can be just as complicated by irritation and fear and sometimes boredom. My love for them is never in question – equal but vastly different. And when I catch them for a brief moment snuggled side by side on the sofa my world is complete. To quote this time from a musical I love – Blood Brothers – ‘They’re a pair, they go together.’

So, two Valentines this year for me. Well, ok Hubby, maybe three…


Mummy Times Two

What’s on your mind?

For a while now there’s been one question that I’ve wanted to know the answer to more than anything. More even than the ‘What does the future hold?’ question, which I have sort of accepted that I will never know. The question is ‘What goes on in Pudding’s head?’

I live with him and love him. I know loads about him. I know that he loves watching Octonauts or Sarah and Duck. That he has a mean left kick in football. I know (mostly) what foods he will or won’t eat. I know (usually) when he’s about to hit me or throw something.

But I never really know what he is thinking. Because he can’t tell me.

When chuckles suddenly erupt from his round belly for no reason that I can fathom, what has started them? Has he seen something that tickles his sense of humour, or is he remembering something funny? Or, is it another new symptom to worry about? (Gelastic seizures, which cause a sudden bout of laughing or crying, are another thing I’d never heard about before Pudding’s diagnosis with MPS. Unlikely at this stage, but that doesn’t stop me running the possibilities through my head.)

When he is chatting in his bed alone at night in the pitch black, who is he talking to and what is he saying? I’d love to be able to join in sometimes as it sounds like a lot of fun.

When he asks for ‘Beebies’ for the twentieth time in a row with that beautiful hopeful smile, does he expect the answer to be different to the previous 19 times?

He does sometimes show problem-solving skills such as coming to find me when he needed a milk spillage cleared up, or getting a stool when he wants to reach something. So I know that he can identify a problem and find a solution.

I’ve often wondered how much he recognises people that we don’t meet very often and remembers things we’ve done with them. He’s so happy to see anyone and gives smiles and cuddles out freely regardless of whether he knows them! But I had an insight when we met his cousin’s cousins recently after a gap of only three weeks. The first time we saw them was in a restaurant and we whiled away the wait for food by playing one of his favourite games. It’s very simple – we point at each other and say ‘You!’ then someone replies ‘Me? No, you!’ (Really, don’t ask. Don’t all families do weird stuff like this?) Well, the second time we met up, as soon as the little girl peeped around the corner, Pudding pointed at her and shouted ‘You!’ Not his usual greeting, so I’m sure he remembered the time before.

Unless his language makes a huge leap forward, I probably never will have much idea of what he’s thinking about aside from the basics. I wonder what he would have been capable of, had his brain not been gradually clogged up with waste sugars for the first four years of his life. One thing I can be sure of though – there’s more that goes on in that curly head than I will ever really be aware of.