Under the spotlight: The Childcare Conundrum

Often, being the mother of a child more complicated than most, it can feel like the political agenda just misses us out. Passes us by, in favour of vote-winning rhetoric over house-prices, immigration, school hours and even the price of beer.

But this week, a small chink of light appeared in the form of a Parliamentary Inquiry into the provision and cost of childcare for disabled children.

Much has been said about childcare in political circles, of late. From the new tax-free childcare scheme announced by the government last year to the escalating cost of childcare heralding a huge rise in ‘mumpreneurs’ (I’m not the only one who’s a bit ‘hmmm’ about that word I suspect…), childcare has featured heavily in the political and news agenda. But most of the powwow has slipstreamed fast over my head because, when it comes to childcare provision for Orange, we are still yet to pass ‘Go’.

With Beep we trod a mainstream path and it was, comparatively, an easy ride. We found a local childminder we liked and could afford, booked her in, and that was that. In the blink of an eye her needs were catered for and I settled back into the routine of work, knowing that she was safe and happy. When my consultancy work took off and my hours became long, we found a wonderful nanny who we shared with another family, and our girls spent their toddler days like little sisters, doing each others hair and squabbling over who played with the pink buggy, running about in the park, being grumpy at playgroup and heading up to town like mini city-sophisticates for days out.

At three, Beep started in the local pre-school, no question over whether it was ‘suitable’ or ‘met her needs’. It just was, and it did. And now she’s in school, she’s slotted neatly into after-school and holiday care with a brilliant childminder in the village. We have been able to find good quality childcare for Beep wherever we have lived, city, suburbs and seaside village. It has come at a cost, but it’s available. There are options.

For Orange, it’s not been as simple. The reality has been that, until now, we haven’t been able to find a single childcare setting that could meet his needs. Not in any of the three postcodes we’ve inhabited since his birth.

Orange is an easygoing, placid little boy. He is social and he positively shines in the company of others. He loves nothing more than being around other little children. He will smile, reach out for them and chat to engage their attention in a way he just doesn’t with adults. He knows he is one of them.

More than anything I know how much he would benefit developmentally from being around other small children on a daily basis and taking part in organised play in a way that simply doesn’t happen at home. Attending nursery or pre-school is more important for Orange that it was for Beep, I’d say. Quite apart from the fact that we need childcare to enable us to work, nursery is an essential learning experience for a child with developmental difficulties. And yet, here we are, at age three, and yet to experience that first day of nursery.

A year ago, I started enquiring about pre-school for Orange. Looking round places, talking to his Portage worker, researching online and chatting to other parents. But most of what we saw simply couldn’t meet his needs. The same obstacles kept presenting themselves. Step access. Echo-ey, noisy acoustics. No ‘safe zone’ for little ones with no mobility. ‘Free-play’ ethos which is basically just a bunch of loud kids running about in a room… Staff without the skill or time to spoon-feed a little boy who can’t chew. And who I would feel confident handing him over to, knowing that he could have a seizure and stop breathing while he’s there…

Finding a setting that he could a) get in to and around in a wheelchair and b) would allow him to flourish once he was in the door, while keeping him safe, was quite the challenge.

A few months ago we eventually settled on a nursery in a nearby village, that has a staff with plenty of experience and knowledge of additional needs, a layout and set-up suitable for a child who has little independent mobility and no awareness of when he’s about to be trampled on by bouncing, bounding children, and an ethos that promotes thoughtful, creative, floor-based learning. Orange, as good a judge of character as he is, was instantly happy in the manager’s company and I felt confident, on very first meeting her, that she and her team could provide a safe and happy environment for him, where he would thrive. And not be trampled on by rampaging toddlers.

I wanted to book him in immediately. Throw him right in there, into the mix of little tots he was craning his head to see and shouting ‘eeeeeyyyooo’ to excitedly as we looked around. I would happily have handed him over then and there.

But there were hurdles to be scaled. Rather large ones, that we are still overcoming.

Orange needs constant 1-2-1 care at nursery to be safe and to be able to join in with activities. He needs physical help to move around, play and eat. And of course there’s the huge Orange elephant in the room in that he has a history of seizures that cause him to stop breathing.

Catering for Orange’s needs just isn’t covered under the standard terms of what a typical childcare setting offers. I’m sure that in there somewhere there’s a discrimination case waiting to be mounted, but the law as it stands just doesn’t protect or enable disabled children and their families and so childcare settings are not obliged to provide for children who don’t fit the norm.

Paying for a 1-2-1- carer full-time, on top of nursery fees, is simply beyond the means of 99% of families and so funding has to be sought. Our team at the Local Authority have been supportive with making this happen for us but, even so, have only been able to secure six hours of funding. During term-times only.

Six hours. Thirty-nine weeks a year. And that’s it.

While I am over the moon that Orange will be starting at nursery soon, there’s a crucial missing link here in that childcare is not solely for the benefit of the child but also to allow the parents to work. To keep a roof over their heads and contribute economically. And six hours a week simply isn’t enough. Six hours a day is barely enough.

We have had to, and will continue to have to, rely on help from family to fill the gap that childcare should be filling. I am only able to work when we have family help to enable this and I am incredibly lucky that my line of work means I can work so flexibly. Albeit, it is a gargantuan juggling act. And it puts enormous pressure on our wider family unit because we have to be completely self-sufficient, knowing that adequate outside help simply isn’t available.

And what I absolutely cannot understand, is how we got to this place where over 600,000 parents of disabled children say they have been unable to return to work (84% of mothers of the 800,000 disabled children in the UK have not returned to work). The system simply doesn’t cater for them.

Of course, you may argue that our circumstances are unusual. So far aside from the norm that we couldn’t possibly expect mainstream childcare to cater for our needs. That it’s just bad luck and we should suck it up. But that would be a backward way of looking at it. You see it is not us, or indeed our children, that marks us out as ‘other’. After all, we are consultants, teachers, buyers, artists, accountants, office managers, hair stylists, corporate fund raisers, army officers, tax payers, contributors to society. We have financial commitments that must be met (and some…) just like other families. We have hopes, dreams and desires, just like other families. We have careers hard fought for, just like other families.

But what ultimately stands us apart, and allows us all to often to fall into a black hole of isolation and financial vissitude is that we are denied the opportunity to return to our jobs and careers, because the support systems that enable parents to work are strikingly absent for children whose needs are more complicated.

The conversation about enabling parents of disabled children to work began not so long ago here and I wrote what I’ll admit was quite an angry blog post about the issue back in March when we were mid-flow trying to secure a nursery place for Orange. And so I welcome with open arms this Parliamentary Inquiry into childcare for children with disabilities. It is so desperately long overdue.

And to other parents who have faced similar issues in finding childcare for their disabled child, I would say this. Get involved. This is our chance to step into the spotlight and let our needs and views be known. Whether you have lost your career because childcare didn’t work for your child, lost your home because the finances didn’t add up with just one parent working, or are hanging on to the bare bones of a job by your back teeth but would like to be able to work more without relying on relatives to help, share your views.

The inquiry is seeking evidence from families, professionals and ‘a range of stakeholders’ (whatever that means) during May and June:

  • Written evidence can be sent for inclusion in the enquiry to childcarefordisabledchildren@edcm.org.uk until Monday 9 June 2014. This is a chance to share your experiences with a willing and influential audience. To ensure families with disabled children don’t continue to fall down the gaps left by an inadequate childcare system.
  • Families can also respond to this survey, which is gathering evidence to submit to the enquiry.
  • The inquiry is holding four oral evidence sessions during June. These will be chaired by Robert Buckland MP and Pat Glass MP. Write to them. Share your story. You might also want to consider writing to your local MP with reference to the inquiry. Belt and braces, so to speak.
We have a limited window in which to act and share our experiences to ensure that future childcare policy takes the needs of our children into account. We are under the spotlight. For perhaps the first time ever. There is a glimmer of hope but it needs us to facilitate real change.

 

Let’s talk about work, baby (AKA ‘This is long, better fetch yourself a cuppa’)

I have to be upfront and admit I’m a little more than fashionably late to the party on this topic. An overflowing work schedule, trying to find a nursery for young Orange (another whole post), home adaptations work requiring more than the usual quota of project management (yet another whole post, you want to put our oil tank there, really?), and of course daily life with a SWAN in tow has meant sitting down to write has skidded fast down my ballooning to-do list.

While I have been refereeing disagreements between builders, drafting a gazillion PR plans, form-filling and wrestling with lycra suits (Orange’s, not mine), an emergent voice from the hive of Working Mothers of a Disabled Child (WMOADC*, snappy, huh? Thanks Are you Kiddingney) has been gathering over something incredibly important.

Work.

Paid work. Employment. Self-employment. A job. Entrepreneurship. A career. That dreadful misnomer beloved by the likes of the Daily Fail, having it all.

Thanks to the strength of previous generations of women who have challenged the status quo, being a ‘working mother’ is more welcomed than sneered upon in today’s society. Great strides have been taken, enabling women to take on the (sometimes farcical) juggling act that is bearing children and maintaining a career they either need, or desire, or both.

But under the surface of the fractured glass ceiling stands a group of women whose situations don’t fit the typical mould. And for whom the system is still erecting barrier after barrier to the world of work. If you have a disabled child, the glass ceiling, or even the office door, can be all but inaccessible.

One might assume, when the barriers to work grow ever tougher to scale, that there is an agenda at play to actively discourage mothers of disabled children from contributing to the country’s rather parched public coffers. As if once you bring a child with disabilities into the world you are cast aside into a net marked ‘other’, with an assumption that you will willingly renounce the normal things you once did, like going to work to earn a living, consigning them to the confines of the memory box.

Nobody without a gift for the occult can predict entirely what lies ahead in their life. I’m pretty sure I’m not alone in my teenage experience of sitting in the career advisor’s office, sifting through lever arch files of (deathly dull) career profiles without one twinkling of contemplation for what might happen to my as-yet-undecided-upon career if I, at some unknown point in the future, gave birth to a child with disabilities.

As it turned out, I was lucky. I blundered, vaguely, into a career that now allows me to work in some pretty fanciful and flexible ways. Actually I was lucky twice over in that I also have the support of family. I have extra pairs of hands to take care of Orange and help manage the full-time workload of therapies, appointments and admin while I skip off in heels to bring home a little bacon and stimulate my mind away from a descent into dark chaos.

I need and want to work but it is my own, providential personal circumstances allowing this to happen. Should I have pursued a career that required me to be employed 9-5 5/7, or if I had been reliant on conventional childcare for Orange, this happy house of cards would never have made it above ground zero.

To give a little context to the uninitiated, a little over a year ago, I posted this little doodle. An idle hour spent trying to capture in illustrative form, the scope and scale of the demands of being a parent carer to an undiagnosed child.

The response was overwhelming. Words of compassion, sadness, anger, comradeship. It was all there. As Orange grows up it’s becoming ever clearer that the demands of caring for him, while they change continually, will not lessen. If anything, they will probably grow.

Managing all this extra, unwished for but suddenly compulsory life ‘stuff’ that goes with the territory of disability, means that for many mothers of disabled children (and some dads, I haven’t forgotten the dads), having a job or career can become an impossibility. For many, the barriers are insurmountable. The challenge is described with great eloquence, clarity and grace here, if I could command every politician in the land to read this blog and the links that follow, and act on it, I would.

There are, of course, WMOADCs* like me who have been able to cling on to a career through a chance amalgam of fortunate career choice, family help and support, the current health of their child and sheer, dogged determination. Not without challenge, guilt or mind-fogging exhaustion but cling on we do. We’re the 16% versus the 60% of mothers of typically developing children who return to work post-baby. We are a distinct subcategory.

Our WMOADC* status is hard fought for and some careless critics may opine that we take on too much. But work we do. For financial security. For sanity. For independence. For normality.

Every mother of a disabled child should have the right to work, but if you’ve ever tried to find a nursery place for a child with severe epilepsy, or who is fed via tube, who can’t move independently or who has a packed schedule of weekly appointments, you’ll know that support from the system to do so is just not there. I give you some facts:

  • Funding for one-to-one support in nursery, beyond the rudimentary 15 hours a week for 3+yr olds is absent. For children who can’t eat, sit up or stay safe without constant adult support there is nothing, nada, unless a parent can fund full-time continuous one-to-one support in nursery themselves.
  • Specialist nannies with experience of managing the needs of complex children are like gold dust. If you can find one, you’ll need your very own gold reserves to cover the cost.
  • There is no ‘wrap around’ care at special schools. Transport provided for disabled children to get to and from school will only collect and drop off to the child’s home, so someone needs to be there to greet them. Oh, and school holiday care? As rare as hen’s teeth.
  • Carers allowance (embarrassingly pitiful as it is) goes poof into thin air the moment you earn more than basic pin money. AKA, the ‘benefits trap’.
  • Overloaded NHS and Local Authority services are not resourced or set up to fulfil the needs of a disabled child and accommodate the diaries of working parents. They’re just not. Not just that, but the system expects and requires that a parent, with legal authority for the child, is present at any appointments where important decisions need to be made. Medical tests, for example.
  • The employment world is still surprisingly hostile in many ways to working parents, even common or garden ones who are not shackled by the inconveniences of disability. Making work work, and making work pay is often a monumental challenge for parents, even without the complications thrown into the melee by disability. Present it with a disabled dependent and all of a sudden doors begin to close.

Work, all to often, just doesn’t work. And the consequences, both private and public, are enormous. Would-be WMOADCs* are catapulted unceremoniously in their ‘other’ net into a downward spiral of home-bound benefit dependency, often against their will.

Of course, our current government (and supporting media) is quite happy to perpetuate the myth that ‘people on benefits’ are to be minimised and scorned, with no consideration for the life path that may have brought them there.

No consideration for the fact that there are mothers all over the country, unable to find a way to return to work after having a disabled child, for whom nursery places are unavailable, specialist nannies beyond the reach of all but the wealthiest, and employers unwilling or unsympathetic to accommodating their needs for flexibility. Mothers for whom work is, in all likelihood, essential to maintaining the family home. Paying a mortgage. Meeting the rent.

All too often, house keys are being handed over in exchange for a place on the council housing list. Debts accrued beyond means. Carers allowance stretched to feeding a family. Housing benefit claimed where once a tax-paying income was earned.

A little-talked about ever decreasing downward spiral. One that is real. Happening right now to families who previously may have sat comfortably in the top 10% of earners in the country. But our voices are largely falling on deaf ears with only the disability-friendly Guardian giving the issue any recent page space .

Us WMOADCs* and would-be WMOADCs* need an ambassador. A high-profile advocate to amplify our voice. We need a manifesto. For support. For common-sense. For change. For mental-health and social cohesion. For the greater economic good.

When I sat down to write this I couldn’t think of a single politician in office who I would trust to take on this baton. Public life is currently found urgently wanting of figureheads with the clout, intelligence and lack of self-involved-puffery necessary to do this issue justice.

I’m sure some may disagree with me on this but in my mind there is, perhaps, only one potential advocate in public life with an inkling of WMOADC* reality. SamCam. Wife to a pretty unpopular PM she may be, but she has first-hand experience of life with a disabled child. She also has first-hand experience of being, for want of a better word, a ‘career woman’. While her circumstances may be enormously privileged, she has the profile and sensitivity to take this issue on headfirst.

Alongside this blog post, I will be writing directly to Samantha Cameron to ask for her input and support. I will use this space to update on how this little line of enquiry goes. Perhaps I’m naive but I simply can’t sit on my bottom and do nothing for the thousands of parent carers pushed aside by a system replete with holes and booby traps.

It doesn’t have to be this way but won’t change without input from influencers and policy makers willing to open their ears and think creatively.

In the meantime, I strongly encourage you to sit down with a large cup of tea (or perhaps gin) and read some of the blog posts my WMOADC* and would-be WMOADC* counterparts have penned.

Nice Work if You Can Get It by Are You Kiddingney
Dear Mr Gove (and other assorted pals) by Gingerbread & Sunshine
How Can Work, Work? by One Off Ordinary
Working…with a disabled child by It’s Small’s World
Work, Kids, Special Needs. Making it Fly by Rosy & Bo

A conversation has been started… The invisible women are stepping forward to centre stage. Watch this space.

* copyright Are You Kiddingney?

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

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”.

“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.”

“OK, well, what would you like me to do instead?” “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.”

“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.

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.

 

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.