Wednesday, 11 November 2015

Seeing and Believing

Of all the senses, sight must be the most delightful.

Helen Keller

I remember the day they told me Hugh was blind.  I went home and I sat on the stairs and wept.  I called my mum.  And she cried too. 

Of all the challenges he faced, the developmental delay, the seizures, the hypotonia, his feeding difficulties … it just seemed so unfair that he was hit with another blow. 

And blind?  Well, blind seemed so final somehow. 

When Hugh was a new-born I was concerned that he never made eye contact and that he was so disinterested in the world around him.  In a dark room, he wouldn’t turn towards the light, even light up toys, right next to his head in the cot, held no interest for him.  But slowly, painfully slowly, almost so slowly you wouldn’t notice, Hugh started to ‘see’ things. There’d be brief glimpses of recognition or attempts to reach towards things; shiny things and red things usually. We borrowed a dark den – a huge tent that blocks out all the light – and I’d sit in there endlessly with light up bouncing balls and fibre optics trying to teach him to see. 

The thing with Hugh’s kind of blindness is that it’s all to do with the brain and less to do with his eyes.  There’s very little wrong with his eyes really, but his brain just can’t make sense of what they see.  This is called a Cortical Visual Impairment (or CVI for short).  The way it was explained to me was to:

*          Imagine his eyes are a camera.  The camera works fine - it takes a great picture. 

*          There’s nothing wrong with his optic nerve either, although it’s a bit slow – so the driver delivering the film to be processed takes a long and meandering journey to the processing lab, but it gets there fine and in one piece. (Remember sending camera films off to be printed?  I guess it’s an outdated metaphor now). 

*          But the processing lab, Hugh’s brain, is a right mess - there’s things all over the place, it’s all higgledy piggledy (OK the Doctor never explained it quite like that) and it’s all so disorganised that the film gets mixed up.

*          The perfect picture taken by the camera isn’t printed correctly and the resulting photo bares no relationship to the picture that was originally taken. 

So basically although Hugh’s eyes can see, his brain can’t make sense of the image. 

In a funny kind of way, this is good news.  Or less-bad news.  It gave us something to work with, something we could try and improve – hence the hours sweating in the dark den.  Hugh’s brain could try and learn how to see.  Hypothetically anyway. 

Over the years, I’ve seen tremendous improvements in Hugh’s ability to see. He certainly recognises his favourite toys and he will reach and grab for them.  He can spot the shiny string from balloons and has mastered the art of catching it.  He can even track and follow objects with his eyes.  From the baby who couldn’t see a light shining in a pitch black room, these are big steps.  Despite these improvements Hugh continues to be registered blind (or severely sight impaired as the new phrasing goes).  And as yet, he is still not looking at faces or making eye contact and I believe this is something that is very difficult for people with CVI to achieve.  That does of course make me a little sad; I would love him to look at me … I mean really look at me.  Although that said, even without looking at me, he’s pretty quick at reaching up and pulling my glasses off!!!

This week, however, has seen another step in the right direction and Hugh was offered glasses for the very first time.  Previously it was felt that the problems with his brain making sense of the image were so severe that glasses wouldn’t help.  Now though, he has developed enough to allow him to try glasses to see if his eyes being able to see more clearly will help.

Confusing, I know. 

But if we go back to the original analogy – the camera works fine but the lens needs adjusting to get a clearer, less blurry image (hence the glasses).  If the original image is clearer and more focused, then perhaps the brain will find it easier to interpret.  Who knows?  It’s certainly worth a try.

So here he is trying on some glasses today.  He seemed to quite like them (even with that annoying sticker stuck right in the middle). I’m not sure if he’ll keep them on or whether they’ll even help at all, but we shall see how it goes.  His new glasses should arrive next week.  I’ll keep you updated.

Photo Credit

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I'm linking this post up to the linky Small Steps Amazing Achievements over at Autism Mama  #SSAmazingAchievements


and also the  Mad Midweek Blog hop (which is a new one for me!)

Super Busy Mum
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Wednesday, 23 September 2015

Hiding From The Future With My Head Stuck In The Sand

The future’s bright, so the famous advert tells me.  I’m not so sure – most days I can’t see it as my head is buried too far in the sand. 

I find thinking about The Future far too stressful and upsetting to contemplate, so mostly I just pretend it doesn’t exist – I’ll cross that bridge when I come to it kind of thing.  There was a time I didn’t think beyond the next hour; then just getting to the next morning was a miracle I daren’t hope for.  As time progressed and Hugh outlived his initial prognosis of two years I could begin planning a little further ahead.  But even now, while Hugh is relatively healthy I daren’t look further than a few months ahead.  And if I do make any plans, or make mere suggestions of plans, the sentences are finished with a ‘please God’ or a ‘hopefully’ or a ‘If Hugh is well enough’. 


That’s the difficulty of living with a life limited and life threatened child; I don’t know what’s around the corner.  To some extent, that is the same for everyone – no one really knows what can happen and things can change in the blink of an eye.  But for the majority of people that don’t live under the shadow that such a diagnosis casts, you can look ahead with a relative degree of confidence.  You might plan next summer’s holiday, or your child’s transition to secondary school.  You can think and daydream ahead to college and university choices and weddings, perhaps.  With Hugh, I’m not afforded that luxury.


I’ve been asked many times what future I want for Hugh.  The social worker asked during his core assessment and it’s been discussed at the Advanced Care Plan meetings. I’ve been asked many times what I see for Hugh, what I hope for in his future.  Every time it catches me, and I have to swallow a hard lump in my throat and bite back the tears. 


What I want is ...

I want there to be a future for Hugh. 

That’s it! 

I want him to be here.

And I want him to be happy.


The thought of a future without Hugh terrifies me.  I daren’t think about it.


Yet there is just one thing that scares me more.


And that’s Hugh living in a future without us there to protect him. 


It’s hard to type that, it’s hard to admit what that actually means.   I can’t bear the thought of losing my son, yet I’m terrified at the prospect of him outliving me.  Who would look after him if we weren’t here?  Without us there as his voice who would know what he wanted?  Who would comfort him when he was sad?  Who would sit with him when he was sick?  Who would hold his hand and sing to him and tell him everything would be alright while the seizures racked his brain?


Hugh's big brother has the future mapped out.  He reckons he’s building a house in his garden for Hugh to live in.  He has aspirations of being a footballer or a policeman or a fireman or a farmer, but more recently he’s said he wouldn’t get a job as he’d look after Hugh when I died.  That’s the way he thinks you see; at just 6 years old. He knows, deep down, that his brother will need lifelong care.  He assumes it’s his responsibility when we’re no longer here to do it.  I’ve told him it’s not, but he says he wants to. I’ve assured him he can live his own life and that Hugh will be looked after.  That everything will be ok, there’ll be people there to take care of Hugh.


But that’s not true.
Because unlike him, I can’t or rather won’t look to the future. 

I’ve not put any plans in place. 

I’ve not thought that far ahead.

Because I can’t. 

Because I’m too scared. 

Because the thought of it is too terrifying to contemplate. 

And I just wouldn’t know where to start.


My short term plan is to remain invincible: 
I can’t fall ill,
I won’t get cancer,
My back won’t give in,
I won’t be involved in an accident,
I won't get old. 


It’s also my long term plan.


Which is no kind of plan at all really.

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The aim of this blog post was to stimulate a discussion about how Special Needs Carers plan for the future. 

Have you made plans?  How did you start? What plans did you make? What first prompted you to put those plans in place? Has having those plans given you some peace of mind?  Or are you like me, still putting it off?  

Please let me know your thoughts either in the comments below or perhaps sharing your own blog post about planning for the future. Remember to link back to here if you do.  (If we get a few, I’ll set up a little linky for us too)

“Project Safe”, an initiative of St Loye’s Foundation, aims to provide a service to support people with special needs and give peace of mind to their carers.  You can help shape this service and ensure it is the kind of service you and other carers want and need by visiting their website here.

Thursday, 10 September 2015

Contacting my MP about rare, undiagnosed and genetic conditions

We're tweeting our MP - see how easy it is?

I've never been one for politics to be honest.  It was a significant part of my first year of my Social Sciences degree but I ditched it for Psychology as soon as I could. I guess I kind of na├»vely thought it didn't really have anything to do with me. I kind of didn't 'get' it.

And then I grew up.  And I realised how politics impacted every single aspect of our day to day lives.  And then I had Hugh and suddenly party policies on disability and benefits became extremely important to me.

I'd not heard of All Party Parliamentary Groups before.  Maybe you have, but if not:

All Party Parliamentary Groups (APPGs) are informal, cross-party, interest groups of MPs and Peers interested in a particular issue. Cross party means they have politicians from all the different political groups involved and so they are a great way to make sure everyone in parliament knows about the issues they cover.

APPGs are not funded by parliament and do not have any power to make laws but these groups can act as pressure groups for specific causes helping to keep the government, the opposition and MPs informed of parliamentary, expert and public opinion.
Genetic Alliance, who support the work of SWAN UK are planning to set up an APPG for rare, undiagnosed and genetic conditions.  This will increase awareness of these conditions in parliament, help ensure that families like ours have access to appropriate care and support and discuss issues relevant to families affected by rare and undiagnosed genetic conditions such as transition, coordination of care and research.
I emailed my local MP Jess Philips, to ask her to consider joining the APPG on rare, undiagnosed and genetic conditions.  It's easy to do - you too can find out who your MP is and email them here:
  • Because rare, genetic and undiagnosed conditions are often life-long and serious, affecting multiple systems of the body. Hugh is five now, but he still can't sit, walk, talk or even eat.  At this stage it is perhaps unlikely he ever will.
  • Because many of them are progressive, meaning that the health and quality of life for affected individuals will continue to deteriorate throughout their lives and many of those affected will die prematurely. We already know that Hugh's condition is both life limiting and life threatening, which means we, as parents, have to face the fact that our son will probably never live until adulthood.
  • Because the vast majority of rare and genetic conditions cannot be cured and most have no effective treatments. All we can do is simply manage the individual symptoms as they arise.
  • Because families like ours frequently experience delays in gaining an accurate diagnosis for their or their loved one’s condition, and can struggle to access appropriate care and support.  Without a diagnosis support has been much harder to come by, we have had to fight and beg and reach breaking point before Hugh's needs, severe as they are, have been taken seriously.  If you're interested, I've written more about the difficulty in accessing support without a diagnosis here.
We are unlikely to be the only family within our constituency whose child is affected by a rare, genetic or undiagnosed condition. It is thought that about 50% of children with learning disabilities and 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties.
Rare and genetic conditions are a significant cause of illness - 1 in 17 people will be affected by a rare condition at some point in their life (that’s approximately 5,000 people in our constituency alone) and 4 in 100 babies in the UK are born with a genetic condition.
It is estimated that 6,000 children are born a year with a genetic condition that will remain undiagnosed.
So please for Hugh, and for all the children like him and families like ours that are affected by rare, undiagnosed and genetic conditions, please contact your MPs and ask them to join the APPG.
And Jess... if you'd like to meet Hugh and I and discuss how being undiagnosed has impacted our lives, we'd be more than happy to.
I'm not just rare ... I'm one of a kind #Hughnique
Want to find out more and use a template letter to contact your MP? Click here:  SWAN UK APPG Q&A