I know, I know. It seems like almost every week there is another awareness day, another cause tugging at your heart- and purse-strings.

MPS Awareness Day is on the 15th May and I wanted to say a little about why it’s important to me. Obviously MPS is something I think about every day since I first heard about it a year ago, but why do I want to shout about it so much?

I’m not really pushing fundraising this time, as I strong-armed so many of you into supporting my efforts in November. However if you’re feeling flush you can donate here. The MPS Society support families dealing with MPS in many ways. Grants are also made to research projects that look for new treatments and potential cures such as gene therapy. Vitally important even for us as the clinical trial Pudding is currently on is by no means an ideal solution.

Another aim for awareness days is to spread more understanding about a condition. I’ve read some fantastic pieces educating readers about autism or the difficulties of living with an undiagnosed child, and know that these have the power to change the way I view random encounters.

But for me, the reason I blog and the reason I am shouting about MPS on 15th May is simple. I’ve written on ‘It’s Me Ethan’ about how lucky we were to get Pudding diagnosed when he was. Many MPS families struggle for years to get answers for their child’s problems. If by our efforts to raise awareness we can help even one family find a diagnosis sooner then I will be happy.

So please, if you can, share a post about MPS over the next few days – I don’t mind whether it’s one of mine or another – and ask your friends to as well. Maybe you don’t know anyone with similar symptoms. Maybe your friends don’t. But maybe somewhere a friend of a friend is worrying about their child’s development, sitting in yet another hearing appointment, phoning a speech and language therapist, thinking about their child’s distinctive facial features or wondering why trousers never fit round his big tummy. Maybe they will see a post about MPS and the penny will drop. Or maybe you know a health visitor, or nurse, or GP who regularly see children and could pick up on this rare condition.

Early diagnosis means that those MPS conditions with existing treatments can start to be treated straight away before too much damage is done. It means that when clinical trials become available, families can have the chance to take part before the disease progresses too far. It can really make a difference.

You can make a difference.

I’ve always said that motherhood has changed me for the worse.

Some days I desperately want my old self back – the one who has had enough sleep, who has the privacy to pee in peace, and most importantly who has the head-space to think my own thoughts.

Do I wish my children away? No. Truly, how could I? Despite Twiglet’s outbursts of temper, despite all the worries about Pudding, I love them to eternity. I got that bit right. When Pudding reaches out to stroke my hair or Twiglet shares with me something exciting from his day, contentment flows through my veins. When they’re in bed and I see a lovely photo of them I want to run up and give them another kiss. Even when I’ve been desperate to get rid of them for a few hours, after a while without them I start feeling antsy and in need of cuddles.

But I do wish I was a better mother to them. And a nicer wife. One who doesn’t snap or sulk. One who doesn’t hold resentments close and nurse them into grievances. I know I’m doing it sometimes and try not to. I tell myself it’s not all about me. Everyone has their problems: Hubby works so hard at his job whilst also dealing with the same emotional toll as me; Twiglet often battles against the unfairness of a sibling who is treated differently from himself.

And yet, it’s hard to change my very nature. I think at heart I’m pretty selfish. In the past, I’ve heard people saying ‘I’d do anything for my child’ and I’ve wondered ‘Would I?’. Would I really?

And then, a year ago today I heard that word mucopolysaccharidosis for the first time. Although it was only mentioned as a possibility by the paediatrician, once I started reading I knew. I knew it was more than a possibility. Pudding had too many of the symptoms for it to be a coincidence – the large belly, the broad nose and classic facial features, the large head and short neck, short fingers that didn’t straighten fully, hearing issues, development delay, stiff joints.

I was facing the likelihood that my child had a life-limiting disorder and I didn’t know how I could possibly deal with it. But it turns out I could, and I can and I am dealing with it (most of the time). Then, just as our weekly treatments were about to start at home rather than Manchester, we got the DNA results showing the worst outcomes. The clinical trial was mentioned and more trips to Manchester. I was revolted that my first reaction was ‘I can’t bear to’. Yes, selfish thoughts again. But of course, I am doing it. I love my child so I had no choice – love does indeed trump my selfish gene.

I know people who have moved country for their child (NHS Wales doesn’t yet fund treatment for Hunter Syndrome). Others spend months in hospital or years caring for someone they love. Some people give organs, jump into burning buildings. Amazing examples of unselfishness. Perhaps I haven’t been called on to that extreme yet. But I know that I will do what I can.

Maybe what I can do is pretty small right now but that’s ok. Anyone who knows me will be well aware that I’m conservative with a small ‘c’. I don’t like change or standing out from the crowd (unless on stage!). So shaving my hair off in November to raise funds for the MPS Society was a big thing for me. Now it’s coming up to MPS Awareness Day on May 15th and the theme in the UK is ‘Wear it blue’ (purple in most other countries). So on that day I will be wearing it blue for my gorgeous boy, and now that my hair is long enough it will be going blue too.

To make me feel a little less stupid, it would be great if you could join me too. Not the hair, don’t worry – I don’t expect that! On the 15th May wear it blue (or purple) and post a photo for everyone to see. Join me, @ukhuntersmum, on Twitter with the hashtag #MPSawareness. Share a post about MPS. Anything really to make a noise about this horrible condition that is robbing children of their potential. And their lives. 

So what are communication problems actually like with a special needs child? Obviously vastly different from the ‘normal’ range, but also very variable within those who do have difficulties.

For ages I’ve not known quite how to describe Pudding’s language skills. Non-verbal definitely isn’t right – the child hardly ever stops talking. He doesn’t seem to mind who he talks to; me, a passing dog, a stranger, the hedge, his breakfast are all equally valid. It’s just that most of what he says is incomprehensible. 

Apparently the technical term is emergent language skills. (Though that seems strange to me when they have been ’emergent’ for so long.) He is still continuing to improve, but unlike a child with no language difficulties, he takes a lot longer to learn any new words. He can still surprise me though: in our speech and language session this week he left me open-mouthed when he suddenly came out with ‘bike’ and ‘mug’, both said for the first time and so clearly with the consonants on the end. I think we’re past the magic 50 words now (typically reached by the age of two; Pudding is four) and probably adding a new word every two weeks or so. As expected at this stage of development, his words are often unclear too – he only uses a limited number of consonants at the beginning of words (mainly ‘b’, ‘d’ or ‘m’) and very few at the ends, so for instance ‘cat’ comes out as ‘da’.

So single words are increasing and he does have a few set phrases; ‘where are you?’ and ‘behind you’ are often used, though often other people have problems telling which one he’s saying! But proper sentences seem a long way off still.

You know that adorable stage that babies and toddlers go through when they are learning to make noises and there is loads of babbling sounds. Well, Pudding has been doing this for ages – it sounds like a sentence with all the intonation in place, and often one discernible word at the end. If he doesn’t get a response he can even repeat the same thing again and obviously expects an answer. He will cock his head to one side and wait for a reply. I’m probably the person who most gets Pudding-speak but my heart sinks sometimes when he is trying to desperately to be understood and I’m failing.

The worst aspect of this is the times in hospital when he’s been upset after an operation or dosing and I have no way of knowing whether he’s feeling sick or has a bad headache or is just generally grumpy and annoyed with us. Many other parents of minimally/non-verbal children will understand this stress. As a parent we’re hard-wired to help our children feel better and it’s so much more difficult if we have no clue what they need from us.

Language problems aren’t just about what the child can say – it’s also how much they can understand. Pudding has come on so much with this over the last year. We’re now pretty good on phrases with one key word (‘Where’s your coat?’, etc) and are moving on to understanding more complex instructions. He’s also getting better at some verbs (ok, any that involve playing ball..) but is still not keen on ‘wait!’, though that is most likely an objection to it rather than lack of understanding! Adjectives, prepositions, and so on? Let’s just say he wouldn’t be passing baseline assessments at school any time soon. As for more complex concepts, he has no clue. We don’t get the excitement about birthdays, the anticipation of Christmas. He struggles with ‘first…then…’ sentences and has no idea about consequences.

Someone asked me in February whether I’d told him he was going to have an operation. Um, no! That would involve him understanding what an operation is, and having a concept of the future.

He lives very much in the moment, which can be an advantage if I’m trying to distract him from his demands for food – ‘Oo, look! A bird!’ And if I’m honest has other advantages. When I’ve talked to other mums who have children with physical problems but no cognitive delay, I can see what challenges they face; their need to fit in with unaffected peers and find their place.

Sometimes I feel that perhaps we are the lucky ones. Pudding is blissfully unaware of all the issues and complications that MPS brings. He doesn’t worry about his health or the future or what others think of him. He is content when he has food, TV and attention. Our life would probably be easier if he had better language skills, but would he be happier? Probably not…

On the way to gym club today we passed the hospital as usual. But unlike usual I was beeping my horn in support of the junior doctors standing there in the hail, on strike.

I don’t usually talk about political issues on here – that’s not the reason I started blogging and I’ve seen too many discussions on the internet descend into name-calling and slanging matches. I’m not going to go into all the ins and outs of the arguments in this battle between them and Jeremy Hunt. Suffice it to say that these are not petulant toddlers, stamping their feet and whining that they don’t want to work harder. They are dedicated professionals who put in long hours to get this far and already work damn hard. People who deserve better than a forced imposition of an unfair contract.

I know there are problems in the NHS; long waiting times, unequal access, and so on. But I don’t believe this is the way to tackle it. And I worry that this is just the start of the NHS being dismantled piece by piece. This fight isn’t just about junior doctors – it’s about what comes next. Who will be next in the firing line? Nurses? Consultants?

What do I know? I’m just an individual, a mother. All I know is that the NHS has been a life-saver for us over this last year. Literally. The NHS was there to diagnose Pudding’s mucopolysaccharidosis. It was there to offer treatment within a week. It was there to arrange all the tests and screening to check his vital organs. It was there to pick up the pieces when I cried every week. It was there to help us get onto the clinical trial that may save his life. It is there offering a safety net if we need it.

I am so scared that one day it won’t be there.

So, junior doctors, I stand with you.

I was reading a book (yes, fiction, I was actually reading fiction) yesterday evening. I reached the end of a chapter, turned to the next one and the chapter heading stopped my breath for a moment. It said simply ‘Hunter’.

Certain words have been changed so much for me since Pudding’s diagnosis. When I see the word ‘Hunter’ in a book, or on a local estate agent’s sign, my mind automatically adds on ‘Syndrome’ and triggers all the emotions that go with that.

As soon as I became a mother it became much more difficult to hear of any child being unwell or in trouble. I think it’s a natural thing – you can’t help but consider the awful possibility that but for the luck of the draw it could be your own child.

Yet now, when I unexpectedly hear something similar it hits home so much harder. A joke about the ‘stupid class’ at school, isn’t a joke any more. Hearing a story about a mother losing her teenage son it’s not just a story, or a distant possibility. Words can make me want to slam my hands over my ears and walk away. Keep on walking and never come back.

Whoever we are, words always pass through a filter according to our own culture, background and experiences. I guess my filter is pretty sensitive right now.

The other side of this new awareness is that I am now so much more careful of the things that I say or do too. I am trying not to judge so much. Child misbehaving at the soft play? Maybe he has ASD. Chance encounter with rude, unsmiling person? Maybe they are dealing with their own world caving in. The internet seems to be littered with trolls and rude comments, even on the sort of sites where you would think that supporting each other would be most important thing rather than arguing about whose way of approaching a problem is right.

We can never really know what our own words and actions mean to someone else. All we can do, is act with compassion wherever possible. And not use our words to deliberately hurt – there is enough pain in the world already.

(Bit of a ramble today, but that appears to be the way my brain is working right now!)

 

Statement 1 – ‘Well, actually, if you had a time machine you still couldn’t travel to the past or the future, because it would still be the present for you.’

Statement 2 – ‘You don’t care if he hits me!’

Sometimes I find it hard to believe that the six-year-old boy who can use the logic of statement 1, can also fling statement 2 at me in a rage. I actually sat down to write about Pudding’s speech and language skills, but as soon as I typed the word ‘communication’ it was Twiglet that sprang to mind.

I know I can’t be the only mother to have issues around communication. He is a fabulous boy – bright and funny – but he does drive me to absolute distraction sometimes. Almost always it is to do with Pudding.

I know I’ve said before that on the times we have been out together without Pudding there have been no arguments, tantrums or whatever. And he has said recently, ‘Pudding gets more attention than anyone!’ To which the honest answer is, ‘Yes, you’re right. He does.’

He loves his brother dearly, that much is certain. But it’s a strain on anyone if they get hit often. Randomly. For no reason. And its not really surprising that he snaps and screams in Pudding’s face or hits back. I try to get him to respond in a consistent way, as that is the only chance we have of getting Pudding’s behaviour to change. So it is frustrating when Twiglet can’t do that. And yes, I probably start sounding pretty sarcastic when I try to intervene and that is when I get the hurtful comments shouted at me.

I am pretty honest with him – I tell him when what he has said has hurt me, and he does see me cry. Things have actually been a lot better over the last few weeks as we’ve addressed some of the other flashpoint issues of Twiglet’s behaviour (the potential reduction in gaming time at the weekend has made him much more willing to carry out his jobs!). This seems to be having a knock-on effect on how well he manages his temper at other times too. And of course, the more aware I am of my own reactions, the better I deal with him.

I always worry though, about whether I am getting the communication right regarding Pudding’s condition. We have a fantastic book that has helped him to understand MPS and the sort of effects it has on children. So he knows quite a bit about why his brother is different but then there is also the biggy, the elephant in the room. We have never talked to him about life expectancy.

The clinical trial may mean that we never have to. Even if that is not to be, we have years before we need to have that discussion. I hope. But it means that there is always something I’m keeping from him. I can never truly say why I may be more tired or stressed than usual.

I never tell him, ‘Your brother may die’.

 

I’ve complained about paperwork before – the reams and reams of forms and admin that take up so much of the day as a special needs mother. But it does often serve a very useful purpose. The latest being one which will have a big impact on Pudding’s future over the next few years; the Education, Health and Care plan.

I mentioned in a previous post that I wasn’t much looking forward to the meeting just before Easter. Actually, though, it was fine. Hubby had a day off work anyway so came along too; also there was our Portage worker, Speech therapist, key worker from playgroup and our local pediatric consultant. This was the first time that all these people had been in the same room, all focussed on Pudding and his needs. There was some discussion of the positives – achievements that Pudding has made lately and things that we can carry on working on. But yes, of course, we had to talk about the negatives too.

Yet again, we had to face that question, ‘What do you want for your child in the next 3-5 years?’ (Simple answer: what any other parent would! Long answer: we hope upon hope that the clinical trial works well for him then we might see him continuing to gain skills and language). But this time, with some of my post-diagnosis turmoil fading, it wasn’t so bad.

The meeting covered a huge range of issues, from the need for support at mealtimes to stop him stuffing too much food in his mouth at once, to how to evacuate him from school if he refuses to move when the fire alarm sounds. Strangely reassuring that these things are taken into account!

Less than two weeks later we got the news that the panel had agreed his EHCP. Hoorah! Up until now I’ve found it very hard reading sentences like ‘P is significantly behind his peers in every area’. But this time I welcomed it. Sentences like this mean that hopefully he will be able to start at school with a clear understanding of his needs, and won’t just be labelled as a difficult child.

The next stage is for the EHCP to be sent to school and for us to start talking about his transition. Of course they have final decision on how his special educational needs funding is actually spent, but we all know that if he doesn’t get one to one support, they would soon regret it. Ah, the chaos that he could cause….

And the best thing from this process? One simple line from one of the reports feeding into the EHCP – “P is a delightful little boy, who is a joy to know”. This filled me with sunshine when I read it. My gorgeous son will probably hit other children sometimes, pull all the books off the shelf and eat the play-dough, but I know he will be liked, and when it comes down to it, that is what is truly important.

Tonight I found some of the most beautiful words I have ever read and I want to share them with you.

Are you ready? Well, here goes:

“RGX-121 is REGENXBIO Inc.’s product candidate for the treatment of Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome. Individuals with MPS II have a deficiency in the lysosomal enzyme iduronate 2-sulfatase (IDS), an enzyme found throughout the body, including in cells in the central nervous system (CNS) that is responsible for the breakdown of polysaccharides. RGX-121 uses the AAV9 vector to deliver the human IDS gene to the CNS creating the potential that normal IDS enzyme can be produced. Delivery of the gene encoding the enzyme that is deficient within cells in the CNS could provide a permanent source of secreted IDS beyond the blood-brain barrier, allowing for long term cross-correction of cells throughout the CNS. This strategy could also provide rapid IDS delivery to the brain, potentially preventing the progression of cognitive deficits that otherwise occurs in Hunter syndrome patients. The U.S. Food and Drug Administration (FDA) granted Orphan Drug Designation to RGX-121 for the treatment of MPS II. For more information, visit http://www.regenxbio.com/“

Did you understand all that? Thought not!

It may not seem a very beautiful piece of writing to you, but to me it means the possibility of a cure, the greater possibility of life beyond the teenage years, the possibility of no more weekly infusions.

Anyone need a translation? Basically, it’s one of the ways that is currently being developed to deliver gene therapy. It would get Pudding’s body to start producing its own enzyme. But more excitingly than that, it would halt the progression of disease in his brain too.

It’s still a way off. They won’t be filing a request for a clinical trial until 2017. And it will be a long drawn-out process with its own risks and inclusion criteria. But there’s time and there’s hope. Hope for Pudding and the other boys like him. I’ve known for a while that gene therapy is in the pipeline, but there is something about seeing something like this in print that means so much more.

So look back over those dry clinical phrases, and perhaps you can see how beautiful they seem to me….

 

I’ve realised the major problem with blogging as an introvert is that it’s easy enough to write the posts, but I’m absolutely hopeless at promoting them.

When Pudding was first diagnosed, I searched the internet night after night, and in the early mornings when I found it impossible to sleep. I was desperate to find information on what I was facing; not just medical information, but what it was actually like for families navigating their way through this situation. I did find some US blogs, but these had less relevance for me – the cultural background and healthcare system being so very different from our own here in the UK.

I was writing anyway, pouring out my emotions onto the computer in an effort to survive this rip-tide. Anger, devastation, grief, guilt, concern for my own future, more guilt about my selfishness…

Gradually I came to realise that I was writing just what I wanted to read myself. What if I could give this to someone else just newly diagnosed? Perhaps they too would be trawling the internet, desperate to find someone to tell them what they were feeling was normal. Perhaps they could find a blog that could give them a bit of comfort. Perhaps that blog could be written by me? And A Hunter’s Life was born.

It became a way to keep friends and family up-to-date with our latest news without having to hold back the tears if they asked a direct question. But also, more and more, I have wanted to raise awareness of Hunter Syndrome and MPS. With a rare disease, the more knowledge there is out there, the more likely a diagnosis can be made before too long.

So…with that in mind, please could you vote for me in the Mum and Dad blog awards?Nominations close on the 8th April. Only those with a decent number of nominations will get through, and I know there aren’t many of you reading this, but nothing ventured, nothing gained! I’ve been going for less than a year, so Best New Blog seems like the most appropriate, and you could also spread the love by nominating any other UK blogs that you read and love.

Thank you!