Saturday, 20 February 2016

A New Rare Disease Centre at Birmingham Children's Hospital

Exciting things are happening in Birmingham.  Even more exciting than normal I mean.  Although probably only exciting if you’re interested in rare diseases, undiagnosed conditions and pioneering new developments.  But if you’re here reading this blog, then I guess to some extent you are.

Hugh has an undiagnosed genetic condition.  We know it is genetic (that is something he
Rare Disease UK
was born with and is part of his genetic make-up, as opposed to a condition that is inherited) since there are some changes to his DNA.  We discovered this when his chromosomes were analysed at around 10 months old. The changes though are complicated and of unknown significance, plus there are so many changes it is hard to know which are responsible for his difficulties and which are just an unimportant anomaly of the kind many people unwittingly have.  Since we/they are still unsure of the specific cause, Hugh’s complex health needs and profound learning difficulties are attributed to a ‘Syndrome Without a Name’ or SWAN for short.  If, and when, the specific gene fault is found it is highly unlikely he will have a named condition – it is much more likely it will be a series of letters and numbers which may, or may not, be the same as someone else’s chromosomal anomaly somewhere else in the world.  It will most likely be something classed as a ‘rare disease’.  There are, in fact, over 6000 known rare diseases and with advances in modern technology and genetic testing many more new rare disease are coming to light all the time. As an aside, I kind of take umbrage with the use of the word disease since, to most people, it implies something communicable, something contagious, something you might catch.  In the strictest, medical sense disease means:
A disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury” [Oxford English Dictionary]

In our search for a diagnosis for Hugh, we have seen many, many medical professionals.  These are spread out over six different hospitals across the region, each generally working independently from each other, concentrating on their own specific symptom or area of interest.  At nearly 6 years old he generally only has about one appointment a month now, however in the early days it wasn’t unusual to be at 3 different hospitals on the same day.  In fact, he’s been an inpatient at one hospital and travelled by ambulance to another hospital for appointments and tests – I kid you not! Some of these specialists send letters to each other, some don’t.  Some access the same computers systems, some come under different NHS trusts so can’t access the results of tests carried out elsewhere.  And when the appointments were coming thick and fast, there simply wasn’t time for the clinic letters to be typed and faxed between them.  It was down to me to manage all of that information.  I carried my note book to all appointments. I’d have my list of questions ready, I’d take notes and then bring it along to the next specialist – feeding back figures, information, results and what further tests were being carried out.  I was constantly worried that I’d misinterpret a vital piece of information and pass on something incorrectly.    It was a lot of pressure and a logistical nightmare. 

Thankfully, finally, someone has realised what a ludicrous system this is and as a result, the UK’s first holistic, paediatric rare disease centre is being built at Birmingham Children’s Hospital.  This approach will be so much more patient centred and will ensure that many of the professionals involved in a child’s care can be in the same place at the same time.  Imagine, not having to travel from hospital to hospital to see different specialists but having them all under one roof and simply moving from room to room.  Better still – you stay in the room and they come to you. They could even talk to each other!  In addition, The Roald Dahl Marvellous Children’s Charity has funded two rare disease nurses who will help co-ordinate care, address the needs of the families, sign-post to other relevant services and support and ensure access to cutting edge research.  Co-ordinated care, support and information such as this will be a life-changer for families like ours. 

The lovely Dr Larissa Kerecuk, a Consultant Paediatric Nephrologist and the Rare Disease Lead at Birmingham Children’s Hospital has written in more detail about the plans for The Rare Disease Centre.  You can find it over on Special Needs Jungle.

I have been lucky enough to see some of the plans for the new rare disease centre and they are really exciting.  After much discussion and consultation with families, the centre has been carefully designed to accommodate a range of needs.  I generally find the outpatients departments in the hospitals we attend very cramped and difficult to move around with a wheelchair, which given the needs of many of the children that attend is utterly ridiculous. Furthermore, none of them have adequate disabled changing facilities for children unable to use a toilet but too large for a standard baby changing table.  Thankfully the new rare disease centre addresses both of these issues with wide open plan areas, wider doorways and adult changing facilities with a portable hoist.  They’ve included a chill out room, a sensory room and a family kitchen – so you can get a cup of tea, chat with other parents or prepare your child’s meals. It really does all sound amazing.

Donate Here
Obviously something like this costs a lot of money so The Birmingham Children’s Hospital have launched The Star Appeal – you can find out more about that here.

Larissa Kerecuk is also completing her own personal challenge and abseiling 150ft to raise money for the star appeal. You can find her JustGiving page here.

Rare Disease Week runs from 22nd – 29th February and there’ll be various events at lunchtime in The Children’s Hospital.  The highlight of the week will be on Saturday 27th February: The Marvellous Superstar Club Rare Disease Day.

 This will be a day of fun for the whole family, with talks for the families and entertainment for the children including magic shows, the animal man, music and face painting. The two new rare disease nurses will be there too so this will be a fab chance to meet them.  If you’d like to attend (and you really should) contact; 0121 333 9227).  I’ve been asked to do a little talk for families too, so pop along and say hi. 

Hopefully see you there.

Thursday, 18 February 2016

Accepting My Child Will Never Walk

Why walk when I can float?
I remember reading, a few years back, about someone with cancer feeling inadequate because they weren't running marathons or raising millions of pounds for charity. They were 'just', you know, getting on, turning up for chemo, hoping for the best. I've read too about people who've become depressed (understandably) as the cancer has taken hold; felt like giving up. But those aren't the stories that make the papers; people don't want to read about that. They want INSPIRATION. Defying the odds... That kind of thing. Not just ... Well you know ... The everyday kind of suffering.  

I wondered how it would feel to have cancer and read about the people running 26 miles when you're barely fit to get to the end of your bed. Do you think 'fair play', or do you feel guilty, or unworthy, or maybe that you're just not trying hard enough?

Mind over matter and all that!

"I told you - I HATE standing!"
Hugh's undiagnosed condition has left his muscles very floppy. He can't walk or sit or talk and he's perfectly happy that way. He's nearly 6 now, and for years I have beaten myself up, hoping that this therapy or that exercise would get him to do the things that just didn't come naturally to him. There's so many inspirational stories out there: the child whose potential was unlocked through horse riding, the boy whose parents spent hours (and millions) on this therapy and he now talks, the girl whose mum mortgaged the family house, brought her to America and she now runs marathons and gives motivational speeches whilst running a billion-dollar company.  Well maybe not, but you get the idea.

When Hugh was 1, I was told it was unlikely he'd ever sit or walk. It seemed ludicrous at that age that anyone could make such a judgement, particularly not knowing Hugh's specific condition. Yet that paediatrician had seen hundreds of children in her lifetime, enough to make a judgement call based on the evidence presented to her (I'd asked for he opinion and she gave it honestly- she wasn't trying to be a harbinger of doom). 

"Sitting by myself? Overrated!"
And people said 'just you wait', 'he'll show them' and 'take no notice' or 'that's ridiculous' and 'what does she know?'.

I was fed all the stories about this inspirational child and that inspirational family and this mother that spent every single waking hour of the day doing Physiotherapy and that child who'd defied the odds.

And I tried, I did.

I took him to donkey riding therapies and hydrotherapy. I spent hours each week singing songs associated with actions designed to teach him to roll or to stand. I played music and rubbed his feet with different textures. I sat in sensory rooms and hot and sweaty dark dens with flashing lights, trying to get his eyes to focus. I ignored his protests, his fake crying and his forced sleeping and I held him upright against wooden bars, moving his legs willing them to step independently. I held him over a huge blue rubber peanut shaped ball despite him having a raging temperature and a chest infection because we'd fundraised for this £600 assessment and it *might* just be the treatment that would help. Maybe we didn't go to America. And maybe I should have tried a hypobaric oxygen chamber. Who knows what could have happened? 

Or maybe, just maybe, that my child isn't the one who is going to defy the odds. 

Maybe he's going to be the one who doesn't walk, or talk, or sit, just like predicted.

And maybe that's not my fault. Or his.

"Rolling? Nailed it!"

Because surely, for every cancer-fighting marathon runner, there's a hundred more feeling like shit, barely able to make it to the toilet to vomit.

And for every child who defies the odds and doesn't just walk, but goes to university and becomes solicitor (honestly I was told that a child *just like Hugh* managed that) there's a hundred more that, well don't.

And it's not because they didn't try hard enough. Or their heart wasn't in it. Or their parents didn't love them enough.  Or their mum didn't believe in them. Or they didn't have that fighting spirit. It's just... Because. 

Because that's the way it is.

It's not about giving up or giving in or being limited by other people's or your own expectations. It might not be newsworthy or inspirational but sometimes just plodding along, doing what nature intended is fine too.

Here's to not defying the odds. To not achieving the unachievable.

Here's to acceptance.  

"I would MUCH rather just chill out in my beanbag anyway!"

Sunday, 14 February 2016

Wheelchair Accessible Tanks

When I was little I wanted to drive a VW Golf. Bit of a random choice I know, but it was down to a game my brothers and I used to play called 'car capers' and the Golf was always my favourite. When I got older and (finally) learned to drive I had whatever car I could afford at the time, but given a choice, if money were no object, I'd have loved a little mini or a beetle. Or even a micra. The key here being that I wanted a small car. Little. Cute. Compact. Easy to get into parking spaces. That kind of thing. I'm 5ft 1. A little blue mini would suit me perfectly.
Never, not in a million years, did I covet a van! A great big heaving hefty lump of awkwardness? An ugly enormous monstrosity impossibly difficult to park.? Nope. No thanks. Not for me.

Then along came Hugh. And with him came tonnes of gigantic and cumbersome equipment. No little fold away neat little strollers for us. We had a huge over-sized special needs buggy which even a world champion body builder would struggle to fold and lift into the boot of a car. Along with oxygen and the feeding pump and the bottled feeds and the beanbag ... Just a night at my mums required so much flipping stuff!

I'll admit I was vain when I first began looking for a motability car. I wanted a 'car' not something that looked like a van. I was adamant I could lift Hugh in and out. I pretty much refused to consider any alternative. But even at that, even lifting Hugh into a car (rather than pushing him in in his wheelchair)  I'd still need a giant of a car! I eventually chose a VW Sharan and with its side sliding doors and huge boot space it was perfect... For a while. 

People aren't always sure what is meant by a motability vehicle. I even know of people who have been told they're lucky to be getting a free car. Let's just be clear here- there's nothing free about this car. A motability car is leased for 3 (or 5) years and rather than pay you the DLA (disability living allowance) you are entitled to the government pays it directly to the car dealership. That's it. It's kind of cutting out the middle man. But it is definitely not about giving free cars to people. Anyway ...back to the story

So Hugh started growing, as children do. And the bigger and heavier he got, the more I struggled to lift him. Until I eventually realised we've reached the point where we need a wheelchair accessible vehicle (WAV).

I've searched online and contacted a few dealers. It looks like we'll need a medium sized WAV rather than a small one as I specifically want enough seats to take the 4 of us plus a carer for Hugh if I need to. Also I don't want Hugh to be right at the back of the car- I need to be able to see him and get to him quickly in the event of a seizure. I'm keen to have enough space to fit in his ginormous beanbag or his trike both of which take up quite a bit of room. I also need to think about whether we want a lift or a ramp to get him in the back of the car. I've heard pros and cons for both but I think I'm leaning towards ramped access so long as the rear of the car is low enough to ensure the ramp is neither too steep nor too long. And I'll definitely need parking sensors! Heaven knows how I'm going to manage to drive and park something the size of a small tank! Another thing to consider is the advance payment- the non-refundable payment that we need to provide upfront (this is not covered by the DLA). It looks like this will be upwards of around £5000. However one option we may consider is to look at getting a nearly new model as the advance payment on these can be less. 

So there's a few months research ahead and then we'll be making the swap to a WAV. Can't say I'm looking forward to it to be honest but my back will thank me and I'm sure it will be better for Hugh. 

Might be worth giving me a (very) wide berth if you see me driving around though! 

Monday, 8 February 2016

He's not taking this lying down!

"Ha ha, fooled ya!"
Despite his happy demeanour, Hugh can at times be a bit – how should I say this – challenging/ grumpy/ stubborn?  Suffice to say, it’s not smiles and giggles all day long.  Unable to communicate verbally, Hugh has for some time now, been using his own tried and tested method of making his views known.  When he’s content, happy and generally getting his own way, he is full of smiles.  Yet if you try to get him to do something he dislikes, for example physio he’ll put on his best fake cry and feign sleep.  The fake cry can be quite convincing and at first sound can appear like he is genuinely distressed – the absence of tears though is a pretty good give away.  The fact that it stops as soon as he’s got his own way is also a sure sign he was having us on!  For example, if it’s too noisy when his brother has friends over, he’ll cry and rub his eyes like he’s tired; once taken to his room and put to bed, he’ll immediately start laughing and rolling around!  


He’s cleverly working this trick in lots of different scenarios and for the most part I am impressed with his ability to convey his feelings and get what he wants.  Recently, however, he’s taking to using it more and more often.  He can be quite wilful and stubborn (no idea where he gets that from!) to the point he can make himself sick in frustration.  I ‘get’ that he’s trying to say “NO!” and “I’m not happy about this” or “I don’t want to!” and that for him, this is his only way of saying that.  I get it, I do.  But sometimes, you just have to son.  If Hugh had his own way, he would happily spend his days in his pyjamas, in the house, rolling around the living room floor playing with balloons or lying in his bed watching his bubble tube.  (Can’t say I blame him to be honest!)


I was thinking the other day that it’s not dissimilar to that stage of development where babies/toddlers say ‘no’ and ‘I don’t want to’ to pretty much everything.  Hugh’s pushing back against anything remotely unfamiliar.  Yet, how do you reason with a profoundly disabled, non-verbal child?  How do I make him see that in some instances, regardless of how much he protests, he’s still going to have to what I want, be that getting dressed or lying down for an x-ray? Mind you, if I remember correctly from Sean’s demon-toddler days, it wasn’t so easy to reason with him either.  For now, we’re working through it, pushing him when we need to and reassuring him as best we can. 


Last week, he got star of the week for lying down to get changed for swimming at school.  A big step for the little monkey that will happily roll around the living room floor but point blank refuses to even lie down at school! So I’m pretty proud of him for that.  Small steps and all that  ...



Wednesday, 3 February 2016

Blogging for the Greater Good and All That

The reason I originally started this blog was purely, wholly and entirely selfish.  I didn’t set out to help anyone, I wasn’t planning to influence people or raise awareness, I had simply reached a point in my life where if I didn’t get ‘it’ out, I was likely to implode.

The very first post was typed out on a blackberry phone; painfully slowly at 4 0’clock in the morning.  As the world slept, I watched the sun rise over the car park through the small window of the isolation room in the High Dependency Unit and poured out my deepest, darkest thoughts; my fingers struggling to keep up with the thoughts bursting from my brain.  I barely proof read it; I emailed it to a friend and it was gone.  And then, finally, came a sense of relief.  The pent up feelings of the terrible days that had preceded this slipped away and the sleep that had evaded me all night crept in.

From then on, I was hooked.  The experiences I couldn’t tell my friends for fear of upsetting them, I could tell people I had never met.  The fears I daren’t share with my family for fear of worrying them, I could share with strangers.  The deepest, darkest worries that I daren’t encumber my already burdened husband with, I could type and release into the ether. It was both liberating and cathartic.

I was anonymous for a long time.  Blogging enabled me to say the things I couldn’t, or maybe wouldn’t, say in real life.  Slowly, shyly, I shared it with people I trusted.  For the most part though I was scared to let people know how I was really feeling, how scared I was, how Hugh’s needs really impacted on us day to day.  Instead I posted photos to facebook of us painting or going to the park, not letting on how difficult such simple tasks were or how sad and exhausted I was. But in my blog, it could all come out; the fear, the sadness, the guilt, the anger, the anxiety, all of it.  It was like therapy.  All the thoughts that whirled and swirled around my head could be spilled out without the fear of upsetting people or of people thinking less of me.

I didn’t think of helping anyone else; I could barely help myself, what use would I be to anyone?  And yet, despite my initial blogs being an outpouring of anonymous grief and anxiety and fear, I hit a chord with someone and as a result of reading a post of mine, one person joined SWAN UK.  It was a little surreal to see her type in her introduction on the SWAN UK facebook page that she’d read a post of mine that had echoed her own feelings. I realise reaching one person is hardly ‘going viral’ but it made me realise that if I felt that way, and she did too, maybe there were others as well. 
#SWANUKBloggers - a force to be reckoned with
My blog is no longer anonymous and I’ve been lucky enough to have the opportunity to use it to raise awareness of not only our own very personal journey but also of some specific causes that are close to my heart.  As such, last weekend I had the honour of being invited to the very first SWAN UK bloggers conference where 13 new and experienced bloggers gathered to discuss how we could all work together to raise awareness of undiagnosed conditions and the challenges faced by families searching for a diagnosis.  Recent research suggests that an overwhelming majority of parent’s whose child has an undiagnosed condition feel isolated and frustrated.  Furthermore, not having a diagnosis is a significant barrier to accessing appropriate care, support and information.  These findings would certainly reflect my own experiences and as such, I am keen to do all I can to help change this. 

The conference covered lots of technical aspects of blogging – widgets, plug ins, self-hosting and the like.  Whilst some of it was a bit beyond my own technical capabilities, I picked up lots of valuable tips and hopefully over the coming few weeks, you’ll spot a few changes as I spruce up the blog.  But perhaps most exciting was the discussions and plans for undiagnosed children’s day (Friday 29th April 2016).  Obviously I’ve been sworn to secrecy, but, as the saying goes … watch this space!

So from very small (and slightly self-pitying) beginnings, my little blog is growing to a slightly less small, less self-pitying space.  I’m not quite changing the world (yet) but with the back-up of some fabulous fellow bloggers, I’m hopeful that my teeny tiny corner of the internet can help parents feel less isolated and fearful and ensure being undiagnosed gets the recognition (and support) it deserves.

While you’re here, why not pop along and check out some of the other SWAN UK bloggers.