Orange is the happiest colour

I don't know a great deal about Frank Sinatra. I guess he passed me by in my musical upbringing and not being a great film buff (much to the disdain of Mr Mavis), Ol' Blue Eyes never made it onto my cultural spectrum. I tell you this because it's very possible, given the little I do know of his mildly unsavoury and intriguingly colourful personal life, that this quote has some less than innocent hidden meaning, but here I'd like to use it a touch more literally.

I must tell you that I'm not one of those people whose heads are always full of useful and pertinent quotes from important historical figures, ready to whip out at any given moment, impressing everyone with a vast cultural appreciation and well considered usage of appropriately assembled words. Far from it. I'm far more likely to tell you I've 'opened a kettle of worms' or that I'm dealing with a whole new 'can of fish'. Proverbs, sayings, idioms, quotes, even jokes, my memory just can't seem to hold on to them. But this one has sort of stuck.

Two weeks ago, something incredible happened in our world. Thanks to a little bird in the shape of my dad, rather a lot of people suddenly knew about Orange. And they also knew that we were starting to think about the difficult task of raising money for equipment and therapy that Orange needs to help him to access his world, be safe, and to aid his development as much as is possible. The only way I can describe what happened is an outpouring of the most awe inspiring human kindness and generosity that I have experienced. People who have never met Orange, and the majority of whom have never met me or Mr Mavis, selflessly gave what many of us around the world are finding that we have less and less of as the economy does its worst. And now, two weeks on, we are over halfway to our fundraising target. 

I had thought I'd have to run a dozen marathons and put my family though all sorts of sponsored humiliation and terrifying 'life enriching experiences' to get this far, and was starting to feel a rising anxiety about where to find the time to do all this in between the time commitments of caring for Orange, doing his therapies, darting about between his appointments, chasing professionals and, you know, living the regular parts of life like going to work, keeping a home from drowning entirely in cat hair, and trying to ensure my husband and four year old don't turn completely feral. I've casually put myself into the ballot for the London marathon (ssshhh and eek) and if I do get a place I shall now run this to raise money for SWAN UK, since we have been so unbelievably touched by human kindness and now Orange's fund is looking really very healthy indeed. 

I said in my last post that this is life changing. And it really, truly is. I've been able to order the bed that Orange needs to keep him safe at night and save my back from the impending doom looming from lifting a two year old with a body like a wet noodle in and out of a cot several times a day. On Wednesday, Orange's physio is visiting us at home and we will sit together and go through all the possible types of equipment we can purchase to help Orange with his development - crawlers, scooter boards, the Bugzi powerchair, walkers, lycra suits, splints and buggies. And in two weeks we attend Orange's first Snowdrop therapy assessment in Devon. This is all huge. Not only in making caring for Orange easier but now it feels like we can actually do something to help Orange become the best that he can be. The emotional burden and guilt of not having the means to really help him is lifting.

But there is something else truly striking that has shown itself to me during this little whirlwind. In revealing vulnerability, in telling this story about our little boy, people around the globe have not only bestowed help of a monetary kind, they have connected with us in many other ways too. Some have revealed their own vulnerabilities, some have shared knowledge, information and professional contacts and some have brightened our days with gentle, funny, thoughtful words of encouragement and love, including what has now become my favourite little day time pick-me-up. Sinatra had it spot on. Orange is eye-catching, unexpected, memorable and you can't help feeling happy being surrounded by it. So apt for our boy, one short little comment on Orange's fundraising page now sits close to my heart.

There are times in the bringing up of a child with disabilities that the world shows its darker side but, overwhelmingly, our experience so far in raising Orange is that not only have our own quotas of love and empathy for others been given a substantial boost, the generosity of heart towards our family both from people who are close to us and from those we have never met knows no bounds. It's teaching me to really like people. Having a child with substantial difficulties certainly sorts the wheat from the chaff amongst the people in your lives. We have some incredible, funny and deeply kind new faces in our lives while, at the same time, some well-loved oldies, even blood based ones, are dropping off the screen, mainly of my own doing, either because I now have the wherewithal to tell them their sense of humour sucks or because there is a rapidly expanding chasm in our values systems.

Most of all I just feel a little bit more human. This will sound intensely absurd to those of you who have been feeling human all along, but I'm beginning to realise I spent a great deal of my pre-Orange days just sort of blundering along unconsciously. I'm not even sure I really knew the difference between happy and just, well, sort of ok. Orange, and the relationships that are evolving around him, have changed that.

And so I end with the wise words of a cultural figure I know rather more about than I do Sinatra. If you haven't read any Haruki Murakami by the way I sincerely recommend that you do. Especially if you are captivated, like I am, by the power of the human mind, the surreal, and on a less grand scale (or perhaps not), cats.

"It's because of you when I'm in bed in the morning that I can wind my spring and tell myself I have to live another good day" 

Haruki Murakami, Norwegian Wood.

Undiagnosed Children's Awareness Day, Saturday 13th April 2013

This Saturday, 13th April, marks the first Undiagnosed Children's Awareness Day. Before Orange, I had no idea that children with disabilities could be without a diagnosis but there are many, many children just like Orange who have complex needs with no identifiable cause.

SWAN UK, the charity for children with Syndromes Without A Name (SWANs), is launching Undiagnosed Children's Awareness Day to raise understanding of undiagnosed developmental disorders. This is a vitally important job because there is still widespread misunderstanding among not just the general public but also teachers, medics, therapists and even the families of SWANs about what being undiagnosed means. Often there is a false belief that being undiagnosed means your child will get better or that their problems are not as worthy of help as those with a label.

As a family with a SWAN, historically it's been hard to know where to fit. With no diagnosis there are no dedicated 'societies' or 'support groups' and no pathway to guide you through the challenges involved. That's where SWAN UK comes in. This charity is changing the lives of many SWAN families and we hope that Undiagnosed Children's Awareness Day will reach out to more families of SWANs and show them there is a place for help, support and genuine lovely friendship. And a fair amount of talk about poo. And wine. Not usually at the same time.

Please spread the word and, if you'd like to, turn your FB page pink and blue in support. Page covers and profile images can be found here on the SWAN UK page 

Fundraising

I didn't want to write this post. In fact I didn't want to write it so much that I haven't even looked at the blog for two weeks. I have started it and deleted it, started it again but got waylaid surfing eBay for fabric bargains and then, when I could avoid the blank screen no longer, walked away from the computer in staunch determination to find really important things that had to be done Right Now, like polishing the coffee machine and sorting out the cat toys.

I can procrastinate over even the most enjoyable of tasks but when it comes to things I don't really want to do, the delaying tactics enter a whole new stratosphere. My to-do list has quickly morphed from one page of A4 to three, packed to the brim with Very Essential Tasks. You know, quick and easy jobs like setting up a new freelance PR consultancy (eek, what do you think?), redecorating our aged and well-used kitchen (also know as faffing about with Farrow & Ball paint samples, I've decided on Mizzle and Skimming Stone...), making Roman blinds for every room in the house (which also involved learning to use a new sewing machine, there was swearing, and tears), and surfing the net for imaginary holidays and fantasy shoes I definitely cannot afford.

And all in the name of what? Not talking about, or thinking about, fundraising. Fundraising for Orange. It's not something I ever imagined doing. We are not on the poverty line. We live in a beautiful cottage by the sea, we can afford to heat our house, feed and clothe ourselves, and run a car. But what we cannot do is afford to pay for all the equipment, therapy and support that Orange needs. Typing this feels like a huge admission of failure. In the past, whatever financial situation or goal we have had in mind, we've been able to find a way of making it happen with our own means. But this is different. The sums involved are vast and our own means of money generation have been halved by the fact that I am now full-time carer to Orange.

The list of needs is growing as Orange gets bigger - somewhere safe to sleep, a means of independently getting about either on wheels or supported on two feet, a safe and stimulating play area at home, therapy input above and beyond that which is provided by the NHS. All of these things cost thousands. A bed for Beep? We were extravagant if we spent £300. A bed for Orange? Add a zero. Shoes for Beep? £40. Wheelchair for Orange? Add two zeroes. Sensory toys weren't even on my radar when we had Beep, and furnishing a playroom for her has come at no great expense, but Orange needs safety matting and toys that are designed specifically to stimulate his senses in precise ways that will aid his development. All rather pricey, I've learned.

It is deeply humiliating thinking about the possibility of asking for handouts. Writing grant applications to charities and local trusts to see if they can help us buy a bed. Planning fundraising events to raise the funds to get Orange a mini-electric wheelchair so he can be independently mobile because it is crucial to cognitive and social development to be able to get about, and he can't. The longer I procrastinate, the more I'm letting Orange down, but asking for help is so desperately difficult that for a while now it has seemed like the better option not to.

I had promised myself that by the beginning of April, I'd have stopped procrastinating and got on with making a fundraising plan. I had wanted it all to be done in time for Undiagnosed Children's Awareness Day which is happening this Saturday, 13th April, 2013. I had imagined throwing a party, making all sorts of lovely homemade goodies to sell to raise funds for both SWAN UK and for Orange. I wanted to run the Plymouth Half Marathon to raise funds for both too. But I have achieved precisely nothing towards these goals.

So today I decided to take the advice of an old colleague of mine who used to say to me 'just take a run at it', give yourself 15 minutes of working on the 'Huge Scary Thing To Be Avoided' and promise you'll stop at the end of the 15 minutes and reward yourself with a cup of tea. Baby steps, if you like. Which is a ridiculous turn of phrase coming from the mum of a child who may never walk, but my vocabulary seems to have shrunk with all the procrastination. I'm fighting the Brain Fog, so let's just leave it there.

What did I do with my 15 minutes? I hear you ask. Well I set up a fundraising page. Thanks to a very lovely charity called Tree of Hope which gives families with disabled or sick children the tools to be able to fundraise for the things their children need. You can find 'Orange's Fundraising Page' here. I am yet to do anything with it (expect another week of procrastination before anything new pops up here), but it is a first step. It feels a bit vulgar and, frankly, hugely embarrassing to be putting it out there publicly like this but these are my negative emotions and just something I will have to learn to deal with.

Orange's page tells you more about the things we will be fundraising for:

A specialist bed

A Bugzi wheelchair

and 'Snowdrop' therapy, a programme that works on the theory of neuroplasticity, to help Orange achieve his full potential in life. There are vague plans floating around in the collective family brain for singathons, bakeathons and various other a-thons so watch this space.

I'm going to have to leave it there, because I can hear the Orange awakening and I daren't keep the boy waiting for his lunch. He is like his dad, you know. Miss the lunch deadline by five minutes and trouble is afoot.

In the meantime, have a lovely long read all about Undiagnosed Children's Awareness Day. Wear something pink or blue on Saturday, and pop along to an event near you to help raise money for SWAN UK.

With love, Mavis

Eclipsed

I realised this evening that, where this blog is concerned, I've been suffering from what is often gloomily referred to as 'writer's block'. Not for want of things to say but, I think, because so much has been happening in Orange's world that I haven't been able to mentally process it yet, let alone find something interesting or useful to say about it. I am pretty sure this is why I have shied away from the personal of late and bored you all to tears with such lacklustre prose about Rare Disease Day and NHS Change Day.

In truth, I suspect I've been having what a fellow blogging friend has recently referred to as an 'eclipse'. (Have a read of her post, it's very illuminating). In fact, I've probably had a whole series of eclipses (eclipsii?) in quick succession, with very little breathing room in between, but just enough for me to not really register that they've been happening.

When we first moved, back in October, we had a blissful few weeks where Orange had absolutely no appointments at all. Nothing. We had left behind the fear and terror of his first seizures, and really thinking he was going to die and not make it to Cornwall, in a house we no longer had to live in and a town we will never return to, and replaced it with the calming influence of the sea and hopeful anticipation of a new life. We had escaped all manner of misery and were riding high with the excitement of our dream finally becoming a reality. We were busy unpacking, settling in, making friends, socialising, madly planning which beach to visit each weekend, and cramming in as much as we could before Christmas. A bit of an extended holiday if you like, releasing the pressure valve of the past year and just being.

Since the New Year, a whirlwind of Orange Admin has screeched into full focus. We have been buffeted along between housing adaptation assessments, genetics appointments, 24 hour EEGs, blood tests, physio appointments, orthotics, occupational therapy, speech and language therapy, equipment assessments, the arrival of the scariest, mechanical looking beast of a chair, the standing frame, developmental assessments, kidney scans, Direct Payments assessments (for respite), Blue Badge applications, fundraising planning and various stilted conversations with The Professionals about Orange's lack of diagnosis or prognosis.

The workload has been heavy. The conversations have been tiring and repetitive. The travelling and waiting room hours have left the remainder of time feeling a little meagre and frantic. The dawning realisation about the sheer amount of money it is going to take to provide Orange with everything he needs in this next stage of his life is earth shattering. The resulting reports, referrals and forms that need reading, understanding, filling-in, filing and assembling have brought on a special kind of brain fug that only a SWAN mum will understand. The amount of support we are getting is mind boggling. It's wonderful but also tinged by the sad realisation that it certainly wouldn't be offered if there was any doubt that we actually really need it.

In the middle of all of that Orange turned two which was a bit of a mega-milestone, emotionally. The line between baby and child has been firmly crossed and with it I've had to make a huge mental leap from 'mother of a baby who needs help to learn stuff' to 'mother of a child who can't walk or talk'. I'm holding on to a positive outlook about what this means for our lives because there is simply no point in doing otherwise, but in truth I know the intensity of the last couple of months has scratched away at the happy, shiny surface and planted beneath it some seeds of doubt which is why I haven't been able to write with much warmth or cheerful observation about Orange of late. It's funny, because the cheerful observations have been very much there, every day, but for some reason I've found it harder to share them.

My energy has been depleted and I lost a little bit of hope, I suppose. I've been forced to really look ahead at what the future with Orange might actually be like, and to plan for what might be significant challenges. Basic things like getting him in and out of the house. Getting to the car. Bathing him.

But somehow, the hope has to come bouncing back because without it there is no way I can find the energy each day to get on with trying to help Orange learn and achieve. If I let myself believe that Orange won't ever be able to do anything, what would be the point in trying to help him?

The good thing about eclipses is that they pass. Thankfully the sun is back in full view and all pistons are firing again.

In response, Orange is doing his level best to act out like a typical two year old. He has developed a new blackboard+fingernails quality whinge, is snatching iPhones left, right and centre and creating oceanic tidal waves with his splashing in the bath. He's also making a mighty fine effort at sitting himself up, watching and learning the rules of rugby, and keeping everyone in the room firmly under his governorship with his raucous roaring and loud boyishness. And I do believe he may even be trying to talk... I daren't wish too stridently but Orange seems to have at least one word in his vocabulary. Car. Pretty cool, huh?

So no more dry, news-agenda related stuff from us for a while, I hope. Just a little more Orange, instead. And if you see any of that drivel again in the future, at least you'll know why, and you'll know it will pass :) xx

NHS Change Day: Just these three things.

Tomorrow, 13 March 2013, marks NHS Change Day, a day of grassroots action among NHS staff to make the NHS better, stronger, to make a difference to patients and staff. A great idea that I'm in full support of. After all, there are many things that can be done to change patient and staff experience without spending a single penny.

A while ago, after a particularly upsetting run in with a member of NHS admin staff, I decided that the single most powerful change that would transform our dealings with the NHS (which are frequent, many and necessary) would be a revolution in communication skills. For a long time, I mulled over writing a letter to said telephone operative, his superiors, hospital managers, local MPs, the Health Secretary, you name it, to emphasise the impact of how good communication versus poor communication can affect the lives of patients and their carers but life got in the way and my intentions to act for the greater good fell by the wayside.

With NHS Change Day just a few hours away I thought now might be the time to tell the story of the phone call I'd rather forget and to make a little request for NHS staff to really think about how they communicate with patients and their carers. Particularly in London and the South East, where we encountered a far more widespread level of dismissive and rude behaviour than there is here in the South West, but nonetheless I'm sure there are improvements that can be made countrywide that, in the process, would remove a lot of stress and upset from the lives of those wrestling simultaneously with multiple arms of the great NHS octopus.

First, some relevant background, stick with me if you will. On 4 August 2012, Orange had a long awaiting Urology appointment. Following hypospadias repair surgery (do not Google if you are male, squeamish, or eating and definitely not if all of the above) in January 2012 he needed a post operative follow up to make sure everything was working just as it should. The appointment had been moved twice by the hospital, with no reason given. The third date was set for 4 August. Long standing readers might remember that this was exactly the time that Orange got chicken pox. Badly. So bad we spent an afternoon in the community hospital with worried looking doctors and then were packed off to A&E. This was one of two occasions during 2012 when I thought we might be heading down a terrifying path with Orange that would leave him either far more impaired developmentally than he already is, or that we might lose him. We didn't. On this occasion the worry was unnecessary and he bounced back, but the emotional toll had been levied.

No worry, I thought, I'll just phone the Evelina Children's Hospital and move his appointment...

After a fifth night of no sleep and the adrenalin and fear still running through me, I picked a rare moment where Orange had drifted off for a nap to ring the hospital. A harried voice answered the phone unintelligibly, quickly followed by the usual hold music. Routine, if annoying. Just as my hand hovered over the button to hang up, a voice piped up "hello, Paediatric Appointments?"

"Hello", I said. "I'm terribly sorry but I need to reschedule my son's urology appointment, he's not well enough to attend." With not even so much as a greeting or a 'sorry to hear that, let me help', followed a quick fire succession of questions about his NHS number, the usual confusion over the spelling of our surname, routine exclamation that there was no patient registered by that name and finally an agreement that, yes, there he was on the system. All part of the standard procedure when calling the Evelina.

"You've cancelled this appointment twice before" barked the voice on the end of the phone, whose  corresponding name I was yet to be enlightened of. "We can't reschedule it a third time, it's against the rules". <silence>

"This is the first time I have had to move this appointment", I replied, "the previous rescheduling, both times, was from your end."

"Well, madam, we can't reschedule an appointment more than twice." <silence>

"OK, well, what would you like me to do instead?" <loooong silence> "Bring an infectious child into a children's hospital and risk spreading chicken pox to vulnerable and ill children?"

"I don't know, madam, we can't reschedule more than twice. And you have a history of having to reschedule appointments."

"Ah, I see. I think I'm understanding now. Leaving the blame issues aside, perhaps it would help if I can explain that my son has multiple and complex health and developmental issues, and sometimes he isn't well enough to attend the multitude of appointments that are being issued in his direction. And sometimes, in fact more often than you might think, appointments clash or we can't get there because we have other children/family/work related issues, or god forbid, a holiday. And sometimes we need to prioritise. I'm sorry to be an inconvenience, but it would really be best for all involved if the urology appointment could be rescheduled." <silence>

"I'm sorry, I can't do that madam."

"But he's had surgery, he needs it checked..."

"Sorry."

At this point, if not before, I lost my temper and composure all at once. I cried, shouted, and let the past year's worth of appointment juggling, fear, anticipation and anxiety unload all over the antagonist at the other end of the wire, I think for a full five minutes. When I was done, and starting to feel like all my protective, tiger mother instinct was worn to the bone, and I could feel nothing but tears left to break out, I asked quietly and calmly to be put through to another member of staff to discuss the issue. It was with great relief that I was greeted with softer, kinder tones at the end of the phone, from a member of staff who himself had experienced life with a sick child, fully understood the challenges of appointment juggling and was all too happy to organise a referral to see a urologist down in Cornwall after we'd moved. Done. Simple.

The only real failure here was communication. A failure to listen. A failure to ask questions. A failure to co-operate. A failure to speak to the other person with kindness and respect. And, ultimately, a failure to do one's own job, which is to book appointments.

That little episode might seem minor. Sure, there have been more challenging exchanges among human beings. But for a mother already dealing with a very stressful existence, and a child with an uncertain future, these are the sorts of conversations that can make or break a day. That can tip the balance between a day when one feels they are coping with all the challenges of raising a child with complex disabilities of unknown cause, or feeling like jumping off a cliff might be an easier option.

So to the NHS staff member who rescued the situation and treated me gently, I say thank you. To the previous, and to all front line NHS staff members who have any contact with patients, be you lead consultant or cleaner of ward toilets, please take a moment to read and think about this post, and perhaps take a tip or two from here:

1) Listen. And I mean really listen. Yes, we might be the thirty-fifth patient you've dealt with this morning but I am anxious and trying to negotiate the system as best I can, pretty much on a daily basis, and only with my son's needs in mind.

2) Tell me your name and your job title. And tell me again when we have finished talking. When you're meeting new doctors and therapists every week it's easy to forget who's who. I'm embarrassed to say I've left appointments having sat in a room with someone for over an hour, not knowing who I've been talking to. And spent a whole 90 minutes discussing Orange's epilepsy with someone I thought was a neurologist, who turned out to be a paediatrician. You might not know that appointment letters don't always tell me the name or job title of who we're due to see and therefore it's somewhat of a mystery. <tip for parents of children juggling multiple appointments, ASK! I wish I had...And don't be embarrassed to write things down during the appointment either>

3) Smile, take a breath and start your sentence with a friendly 'hello'. Yes, even if you're sat on the phone all day in a broom cupboard. If you are answering the phone to patients or their parents/carers, or if you are greeting them at reception, it is quite likely you are dealing with someone who is either anxious or ill or both. You are the crucial link between us, the patient and/or carer, and the professionals who we need to see. I need to trust that you will treat us and our notes with discretion and efficiency, and if you are rude or dismissive it can leave us feeling desperate.

I could say more. But for now, I'd be really, really chuffed if more NHS receptionists and phone operatives would take on board just these three things. And to the audiologist who berated me over the phone for failing to attend Orange's hearing test, because he was in the High Dependency Unit having seizures that caused him to stop breathing, perhaps you'd like to read them twice ;)

Thank you. Tomorrow, let's change something.

A baby no more?

It's a big day this Friday, and I don't just mean International Women's Day, or the mums' tea party at preschool (although both of those are pretty important, especially the latter which I am told will involve cake). This Friday, Baby Orange turns two. The big 2. In my mind, turning two marks the end of babyhood in a child's life. When The Beep had her second birthday I remember feeling sad that her baby days were over but excited for her future and proud of all her blossoming skills and talents.

For Orange it's a little different. At two, he will still be very much dependent on others in the way a small baby is. Lots of the markers of babyhood that mothers are often quite relieved to leave behind remain a part of our lives. I found this interesting post written by a mum whose last child was just stepping out of babyhood and the comparison is stark. On her list of things she won't miss about the baby days there wasn't really anything I can say we've waved goodbye to yet, or will be anytime soon:

1) Pureeing baby food. If chewing actually means squashing food on the roof of your mouth while not moving your jaw at all then Orange has got it nailed. Of course this means everything has to be mashed. Finger food? You must be joking. I'll just wave it about and laugh thanks mum.

2) Not knowing what's wrong. Orange can't tell me with words if he's bored, doesn't like the green beaker, wants to go to bed, or would rather watch Ben & Holly than Peppa Pig. Family and friends will testify to the fact that he's a very vocal little boy, jabbering away hours of nonsense and giggles and singing along in the car (to 80s power ballads if he gets his way), but he cannot talk. He is getting better at shouting and whingeing though, so watch this space.

3) Wondering whether Play-Doh and crayons have nutritional value. Well, we haven't even got to that stage yet and you know I would be delighted if the boy would put anything in his mouth at all. (see point 1).

4) Reading the Usborne 'That's not my...' (fill in with bear, cat, monster, princess). Orange loves a good book, I mean really loves a book. He will squeal with delight at Peter Rabbit, point at the page and, if you're lucky, will turn the page with you at a moment of his choosing, but whether he has any idea what a rabbit is, or even a bear, cat, monster or princess, it's impossible to say. His level of understanding is a constant mystery to us. All we can do is continue to give him as much variety in life as we can and hope that some of it sinks in. Or creates the right neural pathways. Or something like that.

5) Possets. Substitute for dribble. Constant dribble. We have low facial muscle tone to thank for that, which reminds me we need a bulk order of those absorbent bandana bibs. Ok, it's not milk sick but it's a pretty slimy affair with an Orange about.

6) Dirty nappies. A fact of life in our house for many more years to come. See point 8. And my goodness are they expensive. One of the 'hidden' costs of having a child with disabilities.

7) Watching The Wiggles. Read 'Death by cBeebies'. Actually I'm quite happy to keep this one. I can't be the only mum alive who has accidentally left Nickelodeon on after the kids have gone to bed, or absentmindedly started humming the tune to the Jimmer Jammers while cooking dinner. And I know of at least one grandparent who is guilty of putting Peppa Pig on the telly when there are no grandchildren on the premises ;). Children's TV is cool. I'm sure I might feel a little sad about it if Orange is still watching Mr Tumble when he's 15 but for now, it's a welcome and jolly addition to the household of a morning.

8) Reading Princess Polly's Potty book, again. It's items like this that I pick up and hold and wonder whether we should keep, just in case, or send to charity because they won't be needed again in our house. For the foreseeable future, Orange is in nappies. He can't tell us when he needs the loo, nor can he get there independently, although he makes a pretty damn big deal of a number two. Called being a boy, I guess.

9) The inability to amuse oneself. It is at this point in the article that I'm afraid I lost patience. Bemoaning lack of time to get anything done pretty much guarantees getting the backs up of most parents of children with additional needs. Irrationally and unreasonably so, probably, since no-ones trials and difficulties can really trump another's outright, but the hours, weeks, months and years of extra work that go into raising a child with additional needs go way over and above the experience of raising a typical child. Time to oneself, even to work, is often a long forgotten luxury.

10) Bottles and multicoloured Ikea plates and straws and tiny tupperwares and the accumulation of plastic that seems part and parcel of having a baby. Ha! Ha ha! Come look at my house lady and I'll show you accumulation of plastic. Currently we have a giant chair on wheels with an oh so tasteful decal of a bumble bee on the sides, and a jauntily decorated wooden standing frame with quite possibly the scariest looking monkey you've ever seen on either side. A changing platform, bath hoist, stair lift and outside platform lift for the garden are on the cards. Plastic matting, sensory toys, special beds and multiple seating options too. We are already the proud owners of mountains of plastic toys that generate some of the most irritating sounds the human ear is ever likely to behold, and boxfuls of various primary coloured articles bought in panic, seeking something, anything, that would attract (and maybe even hold for a second) the attention of a boy who at one stage we were told probably couldn't see or hear. Come and gawp over our ever growing collection of beakers, cups and bottles that Orange has no idea what to do with, swathes of syringes for his meds, and spoons he won't put anywhere near his mouth (see point 1) and then we'll talk plastic.

All these markers of babyhood will be part of Orange's life well beyond his second birthday. In many ways, caring for Orange is quite a lot like having a giant six month old. And yet something strange is happening that I can't explain. Given his high level of dependence and extreme delays in development, it's an unexpected progression but he's seeming more and more like a boy every day. This has taken me by surprise and I still can't quite put my finger on what's changing. It's subtleties of face shape, expressions of emotion above and beyond a baby cry, a blossoming sense of humour and revelry in the ridiculous, a deeper, grown up boy's tone to the voice and an alarmingly toddler-esque whinge that has come to light only in the final countdown to turning two. Is it possible that my little boy, who can't yet crawl, stand or feed himself is managing to be bang on time with the terrible twos?

For a lot of mums whose children have disabilities, the second birthday is a bit of a watershed moment. The threshold between baby and child is well and truly crossed according to the calendar, but the little person they see in front of them tells a different story. It is often at this point that disability becomes more strikingly obvious to the outside world. A baby in a buggy becomes a larger child in a posturally supportive pushchair, a lack of language and mobility a source of surprise and questioning, getting in and out of cars with a child who can't support their own body weight starts to become a real challenge and you begin to wonder what your child will sleep in when they outgrow their cot, or how you'll get them up the stairs to bed when they're a year, or ten, older and still unable to walk. That sort of thing.

What really hits home though is the lack of friendship. Lacking mobility and communications skills, and spending vast amounts of ones time at therapy and hospital appointments seriously limits a child's ability to make friendships. At this stage in The Beep's life, she was looking forward to sharing a joint birthday party with her best friend, played an active part in planning the food they would eat and the games they would play and then stood by her right not to do any of it on the day of the party at all. 'It's my party and I'll grump if I want to' was The Beep's birthday mantra. But she had friends who came and enjoyed the party around her. Real friends who sang, painted, hugged, ate, popped balloons and fought over toys. Orange doesn't have that in his life. My big goal for his third year of life is to help him develop relationships with his peers. I'm rather excited about a very promising friendship with another little SWAN who lives a few miles away and I am going to be brave and take him to the new village toddler group. And try not to let my jaw drop at all the amazing things the other kids can do.

With all that lurking in the background and tip toeing its way into our reality day by day it would be easy to feel slightly melancholy about Orange's second birthday but it is with great relief that I am feeling a burgeoning sense of excitement. The presents are wrapped (boy were they hard to choose, but that's another post), a day out at the aquarium planned with tea and cake in the afternoon. Beep has already put her hand up for helping Orange open his gifts, the offer is sweet even if the motive is suspect... In fact I have her to thank for a lot of my unexpected excitement I think. Flicking through baking books together this afternoon she declared that Orange must have a dinosaur cake for his birthday. A chocolate one, with green buttercream and scary spiky teeth. A Tyrannosaurus Rex it must be, apparently. I have stood in the kitchen for precisely 23 minutes this evening trying to figure out how to fashion various cake tin shapes into anything vaguely resembling a dinosaur but will probably end up winging it well in the small hours of Friday morning.

Expect pictures in the coming days of badly decorated cakes and chocolate covered children as we say Happy Birthday to our darling Baby Orange. And here's a picture from this evening of some of that ever multiplying plastic, pretty spectacular huh?

Rare Disease Day 2013

Today marks World Rare Disease Day. What started off as a small and fairly academic affair is becoming an annual global event but like so many of these 'Days', it's one that passed me by until just this year. It it's rare, why should I care? It won't happen to us, right...?

Before Orange, it hadn't really occurred to me that there is so much that we still don't know about disease and disorders of the body and mind. There are thousands upon thousands of conditions that are so rare that many of them have no cure and no name. There are so many rare conditions that while each condition itself may only affect a handful of people worldwide, the number of people affected by rare conditions is so much higher than you might think. Over 30 million people in Europe are affected by a rare condition of some sort, many of them with no clear diagnosis.

When I first started my research to try and find out what was causing Orange's difficulties, it was with genuine disbelief that I learned that as many as 30-50% of children with disabilities have no defined diagnosis. When we began the process of trying to find a diagnosis, I had no idea that 18 months later we would still have no label for his condition. Multiple rounds of blood, plasma and urine analysis, CGH micro-array testing to map his chromosomes, brain MRI, heart and kidney scans, chest x-rays, opthalmological assessments (to look for signs of degenerative conditions), full body examinations by two different geneticists, neurological assessment and individual gene testing for one known syndrome and we are no further forward in finding the cause of Orange's symptoms. Our best, and currently only, hope of getting a diagnosis is via the Deciphering Developmental Disorders Study which is using the latest uber-micro detailed array testing and gene sequencing techniques with the aim of identifying new syndromes and diagnoses from a sample of 12,000 undiagnosed children across the UK. This could take years. And has no guarantee of a result.

For a long while I wasn't sure it mattered that we had no name for Orange's condition. Jokingly, we called it 'Orange Syndrome' and just got on with it. As you do. But there are multiple reasons why finding a diagnosis matters. With no label, we have no frame of reference for what to expect for Orange. Will he walk, talk, live independently? Will he live beyond childhood? The spectrum of possibility for Orange, both positive and negative, is without barrier. In practice this puts life on a warp-speed rollercoaster of unpredictability. It's intense, at times, and requires a level of discipline to distract ourselves from what could easily become an all-consuming abyss. We have to prepare ourselves to outlive Orange, while also planning for his forever dependence, even after our own death.

With no diagnosis we have no idea if Beep might be affected, or one or both of us. We have no idea if Beep's future children will have the condition. How do we tell her that? And given that our chances of having another child with the same condition could be 1:1,000,000 or 1:4 we have put our own plans of having more children on hold. I think...

In between all of that, we need to live. Really live. Enjoy the moment, and all that, because we have no idea what's around the corner. None of us do, of course, rare diseases and disorders can happen to any and all of us. Yes, even the high achievers, the planners, the professionals, the well-educated, the wheatgrass drinkers and treadmill pounders. Disease and disability don't discriminate and that's why Rare Disease Day is relevant to all of us. New diagnostic and therapeutic procedures are being developed every day but there is so much we don't know still, particularly in the field of genetics, we're just beginning to dig under the surface.

Generally I don't do 'Days' and am pretty late to the party on this one, with just two hours of it left to go in the UK, but if you are interested and want to find out more about Rare Disease Day, there's a lovely little website here.

Next post, less academia and more Orange. He's been a busy little boy this month with lots of new things happening in his world. Including a hair cut. His first one. A little wonky here and there but not bad for a joint mummy and Beep effort.