Things people say

It happens to all parents of disabled children. The questions and comments from other people who don’t quite know how to interact with us now. I haven’t really had any negative comments yet but there have been a few times when I’ve been a bit stumped as to how to answer.

I think the hardest one has been someone saying (before I actually told them about MPS) ‘At least it’s not xxx, because that would be really bad.’ In those sort of situations mostly I feel sorry for whoever has said it, as I tell them a little more and they realise that Hunter Syndrome is not something to wish on any child.

Below are three of the most common things I get told and also the answer I should give if I wasn’t feeling shy/uncomfortable/too tired at the time!

I’m probably asking too many questions

To be honest, I really don’t mind. Despite being an introvert, I’ve actually always been quite open about things. The fact that I blog about our life with Hunter Syndrome shows that I don’t mind putting things out there. Mind you, the same won’t be true for everyone with a special needs child. Take your cue from who you’re talking to and as long as you’re coming from a place of genuine interest and caring, I’m sure you’ll be forgiven a lot.

It’s not as bad as what you’re dealing with

Never say this to me. Your problems are your problems, whatever they are, and as a friend I want to be there for you, just as I hope that you would be there for me. OK, if you need a good whinge about how your child is not yet fluent in Russian despite three month’s of private tutoring I might not be the best person to talk to. But that’s not very likely from my friends anyway. So please, let’s leave my issues aside for the moment, and tell me what’s bothering you. To be honest, it will probably do me some good to think about others.

I don’t know how you do it

Um…that’s a simple one to answer. I do it because I have to. Sometimes it is easy. We have our routines for treatment and trips to Manchester. He watches far more TV than I would really like.  Sometimes it is more difficult. When he wakes up and starts shouting just as I want to go to sleep myself I may mutter a few choice words. When we’re out and he disrupts some other children’s game my heart sinks as I know they might not understand. When he runs off in the opposite direction to where we just parked the buggy I have to make a snap decision as to which one to temporarily abandon. (The buggy usually wins that toss-up: whoever steals it is more likely to get some stinky nappies than anything valuable.)

It’s not the life I would have chosen. But it’s our life. He is hard work, yes, but he is also undeniably, unbearably cute. I couldn’t choose not to love him, therefore I do it because I have no other choice. You would too!

 

Progress

I am finally allowing myself to believe that this clinical trial is working for Pudding. Although I have seen the results that other boys have achieved, I have until now always had to remind myself that:

a) a trial is exactly that. A trial. What works for some may not work for everyone and that is why they have to test it out.

b) at the time of testing Pudding had almost the lowest possible score that would still allow him to go on the trial. With results that unpromising I had no idea whether this would effect what we could expect from the drug.

The natural course for those on the most severe end of Hunter Syndrome is for progression until some time around age 4 or 5, and then a time when skills plateau before being gradually lost. This is because the normal enzyme replacement therapy that Pudding now receives weekly doesn’t cross the blood brain barrier to work there. In the hope of stopping this regression, every  four weeks we make a trip to Manchester for a concentrated form of this enzyme to be injected into his spinal fluid to break down waste products in his brain.

Since very early on, Pudding has always continued to develop and improve, albeit very slowly compared to others in his age group. Lately it feels like his rate of progress is making a little leap, and as he gets closer and closer to his fifth birthday we have to see that as a good sign.

Most of his achievements might not seem very much to another mother of a four and a half year old, but for us they are massive. As well as continuing to add to his vocabulary, his understanding is continuing to improve. For instance, when playing ball the other day I told him to ‘Stand further back’. I had to work SO hard not to accompany it with a gesture as I wanted to check whether he understood without. And he did.

IMG_8134He can now almost finish this set of jigsaws without any help; he picks out all the bits correctly and only struggles with putting together the three-piece police helicopter. (He is also often very insistent that the policeman drives another vehicle, but I’m not going to argue about that one!)

His ability to compromise is also improving. Rather than just stubbornly demanding TV he can now sometimes be encouraged to help tidy up first.

He has got used to lots of new routines at school and has even in the last few days been able to pick out his name from amongst all the other children’s. (Not something I’ve been able to recreate at home, but again we can’t have everything!)

So I should be feeling nothing but pride in his achievements and relief, right?

Well…mostly.

Part of me (a small part) doesn’t really want the trial to work. I can hardly believe I’m actually writing this. What an unnatural parent I must be to wish away my child’s chance at life. But much as I feel bad for this I can’t brush my emotions under the carpet and pretend I never have them.

The truth is, if the trial doesn’t work then I won’t have to live with the fact that we have this chance when others don’t. Others who didn’t pass the screening, or for whom it came too late. Others like Ethan who I was so happy to meet only a few weeks ago but who is currently having a hard time of it. Other mothers’ sons all around the world who deserve a chance too.

I know that allowing my child to suffer will not alter the suffering of others, so of course we will continue on this path. I hope it is proved to work. I hope the NHS will accept it as a treament. But I will continue to feel guilty about it.

So I ask of you, please celebrate with us when things are going well, but don’t forget the rest of our MPS family. I’m grateful for this trial, I truly am, but it is only a stop-gap. A far from ideal solution. We need a cure.

A world without…?

Last week I got round to watching a programme I’d recorded – ‘A World Without Down’s Syndrome?’ In it Sally Phillips, who herself has a child with Down’s Syndrome, raises concerns that a new highly accurate screening test will lead to an increase in the rate of abortions of those identified with Down’s (which is already at 90%).

It was an interesting programme and one which raises lots of questions about choice and the knowledge that can inform that choice. For myself, as an older mother I was well aware of the ‘risk’ in my own pregnancies. Having had contact with the Down’s community previously I think I was less scared about this prospect than some other mums would be and refused the testing that was already available. Partly because I knew the limitations of the test itself and also because I would not have aborted anyway.

Watching the programme though, I couldn’t help but think of our situation now. I was prepared to deal with a Down’s diagnosis at birth, but to be hit with the bombshell of MPS when he was three years old was never on my radar. So if I’d been told when pregnant that my child would have this progressive and life-limiting condition what would I have done?

I don’t think I could have faced the prospect of heartbreak and devastation, the weekly treatments, the uncertainty of this diagnosis. How could I put myself and our family through that, let alone the child itself who would have to become more familiar with operations and needles and blood pressure cuffs than I would ever want to?

But of course we never had that choice to make, and I am very glad I didn’t have to. If I had, and found out now that gene therapy could be available in Pudding’s lifetime, I don’t know how I would feel.

Even taking away that prospect, I couldn’t contemplate life without him, knowing now how much I love this bundle of trouble. Last year I wrote that I would change his Hunter’ Syndrome in an instant. That’s still true on a medical level – if I could save him from the needles and us from the worry, I certainly would.

But now I do have more understanding of the other SEN parents who say they wouldn’t change theirIMG_8306 child for the world. Without Hunter’s, he wouldn’t be the boy who makes his TA’s face shine with pride when she shows me his latest ‘drawing’. He wouldn’t be the boy who in a few short weeks has made himself known and loved throughout the school. He wouldn’t be the same boy who makes me melt with love every time I look at him. He simply wouldn’t be my Pudding.

Potentially he could perhaps be a more ‘useful’ member of society. But then he could also have the potential to bully other children, drive dangerously, become addicted to drugs, or many other harmful things.

As medical science moves on apace, soon (even now) they will be able to screen for all sorts of things, from genetic markers for disease through to intelligence. What is right? Where do we draw the line? And who gets to decide?

I don’t have the answers myself. All I do know is that if pregnant me could see current me she would probably still be terrified about the prospect of MPS and all the troubles that it brings. But she would also see the smiles, and the hugs, and the kisses. And the overwhelming love. And I think that would make all the difference.

Guessing games

This morning Pudding woke up crying. I hear him whimpering in his cot and go to get him out. When I bring him downstairs he sits on the sofa, his normally cheerful face red, contorted and tear-streaked.

Cuddles make no difference.

Even breakfast doesn’t tempt him.

Was it a bad dream? Was he feeling sick? Was it something else?

I put on the TV and Twiglet finds his favourite show, ‘Sarah and Duck’. The magic box soothes him, the storm passes and a few minutes later he starts on his cereal. I hover with towels and sick bowl at the ready, just in case.

It is this that I hate most about having a minimally verbal child. That I never quite know what is going on for him in his times of need. That I have to play the guessing game. That even when he does talk I don’t always know what he’s trying to say. No matter how many times he earnestly repeats ‘De de de Doo’ at me, I haven’t a clue what it means though I know it’s obviously important to him.

I know we’re better off than some. His language is improving all the time, slowly increasing in vocabulary and clarity. He can now put two words together, though only in limited situations. And I am hopeful that he will continue on this path.

Of course it would be fabulous one day to hear ‘I love you, Mummy’. But he doesn’t really need to tell me that because his actions tell me that every day. What I would love him to say even more is ‘Tummy hurts’. Words like that could make such a difference.

He’s fine again now by the way, sick bowl still unused. I’m just faced with the problem of how to turn the TV off without becoming very unpopular again.