You know you have an undiagnosed child when…

They say there is strength in numbers don’t they? And that’s absolutely what we have found in SWAN  UK. Our children are all so different but the challenges we face in raising them and getting the support they need are often very similar.

As SWAN parents, we all recognise the ways in which our lives have changed. Often we get through the tough times with some pretty bizarre gallows humour (and gin), and can be observed bonding over things most of us never imagined would make an appearance in our lives. Bile bags, anyone?

If you’re a SWAN parent, you might recognise some of these things. And if you’re not, it might give you a small window into some of the little quirks of daily life for parents raising an undiagnosed child.

You know you have an undiagnosed child when…

  • You jump for joy when you see an M&S Food concession opening at your local hospital. No more soggy pasty slices!
  • Your child has their very own Personal Assistant. Perhaps two. And you need another one to manage all their paperwork.
  • People who you have never met call you ‘mum’. In fact, you might as well do away with having a name all together, since most of your post is addressed ‘to the parent/carer of’.
  • You can draw up exactly 2.5ml of Epilim, in the dark, while rubbing your tummy and patting your head simultaneously.
  • You keep a running supply of controlled, mind-altering drugs in your home medicine cabinet.
  • Your house has more lifts than the average shopping centre and more hoists than a construction site.
  • Your child’s shoes cost more than yours do.
  • No matter how hard you try to ‘style it out’, that enormo-seat disguised as a giant bee and the standing frame designed to look like a cartoon monkey are never going to quite fit in with your period-chic/Skandi cool interior design. Because insects and jungle creatures are just so much more tasteful, right? Right?
 
  • You can speak at least three languages that most people have never heard of. Makaton, BSL and PECS. Clever, huh?
  • Your Amazon Prime delivery of coffee beans is the happiest moment of the month. Without question.
But perhaps the absolute number one giveaway that you’re a parent to an undiagnosed child is that it is only possible to make light of having to visit the hospital multiple times per month, or your home drowning in pieces of equipment (that have been given absolutely no aesthetic design input whatsoEVER), because you are not doing it alone.
Before we found SWAN UK we felt utterly alone. It was frightening, overwhelming, exhausting, and we really thought we were the only ones facing the difficulties we faced.
But finding a likeminded group of funny, articulate and clever parents all with their own little undiagnosed dudes changed all of that. Many of them will be friends for life. Having Orange has expanded our lives to include all these wonderfully cool people that we would never have got to know otherwise. And for that, I’m very grateful.
Thank you, SWAN UK x

 

Undiagnosed Children’s Day isn’t just for us

Friday 24th April marks the third Undiagnosed Children’s Day, a nationwide event to increase awareness of undiagnosed genetic conditions and raise funds to support the charity SWAN UK (Syndromes Without A Name) that is a lifeline for families with undiagnosed children.

But I want to explain why this isn’t just a day for us, and for families like ours. Really it’s for everyone else.

For future parents, grandparents, midwives, GPs, brothers, sisters and friends. Because no-one expects their lives to get so complicated, but having an undiagnosed child is so much more common than you might think. And knowing what to do, and where to turn, if it happens to you or someone you know, can make all the difference.

Before we had Orange, we had no idea it was even possible to have disabilities or additional needs without there being a clear diagnosis. We also had no idea that the little boy we were expecting would have any difficulties. We inhabited a much simpler world where antenatal tests instil a sense of security about the health and development of your baby and if there was anything to worry about or prepare for we’d know, wouldn’t we?

Orange was born in good health but it didn’t take very many weeks for us to notice he was having some difficulties. And while our GP agreed at his 8 week post-birth check that there were some concerns, his muscle tone was low, his neck muscles weren’t working properly, his development was lagging, he had minor hypospadias and his hearing was a concern, there was no explanation at this point about what this might mean.

With no support and no information, I spent every evening in the depths of the internet trying to match up my son’s symptoms, and my instinctual sense that something serious was wrong, with what I found in academic reports and health journals. What I really wanted to be told at that time was that everything was fine, but of course it wasn’t. The more I read the more I knew something was amiss, but if I could just find out what it was…

It was, without doubt, one of the darkest and most terrifying times of my life. More than anything, more than the prospect of raising a disabled child (which at the time felt insurmountable and which I was far from ready for, I mean, who is?), the single thing that made it so terrifying was the lack of information and support. We simply had no idea at all what we were facing, and no-one could tell us. It was a lonely, isolating and desperately sad time, when we should have been enjoying our beautiful new baby boy who was, and still is, an absolute darling little soul.

Soon enough we were into chromosomal testing to see if a genetic syndrome of some kind was causing Orange’s difficulties. Tests that would bring us the answers we had so desperately been waiting for. At last we’d be able to move on with our lives, knowing what was ahead.

Sitting on the kitchen counter top of our holiday cottage in St Ives one sunny afternoon, we got the call. Expecting the worst, I couldn’t quite believe what I was hearing when Orange’s paediatric consultant called to say his tests were all clear and revealed no sign of chromosomal abnormality. Nothing.

I’m pretty sure I’ve never jumped for joy before but in that moment I did. In that small moment, I believed that, after everything, after all the worry and fear, we actually might have a completely healthy little boy. That all the fright and panic was unfounded. I’d been ridiculous. Over-anxious. And that actually he was going to be fine…

But of course he wasn’t.

What no-one had explained to me – no doctor, no paediatric consultant, no health visitor, no physiotherapist, no cranial osteopath – was that Orange was likely to have difficulties anyway. With or without a diagnosis. That it was very possible, common in fact, for children with often quite severe disabilities to have no diagnosis at all. And that Orange could very well be one of these children.

The dawning realisation that even with no syndrome to identify the difficulties Orange was having, he still faced life with disabilities, was crushing. Struggling to reconcile the ‘all clear’ test results with my little baby boy of six months who spent much of his life asleep, rarely smiled and was no closer to being able to sit up than a newborn, I turned back to the internet to search for answers.

And that is when I found SWAN UK, the charity that supports families with undiagnosed children.

At that point, SWAN UK comprised a small group of families that all too quickly became like an extended family of our own. Suddenly, we were not alone. We could see what the future might look like for us and could share the highs and lows of life with an undiagnosed child.

No longer were we alone in facing an uncertain future with our child. We had a place to inform ourselves, to find emotional support and to connect with other families experiencing the same.

Since that time, SWAN UK has grown to support over 1,000 families with undiagnosed children. And is still growing…

Undiagnosed Children’s Day is hugely important in reaching more and more families who are feeling lost and alone, just like we did, and to give them a place to feel listened to and supported.

But perhaps my greatest hope for Undiagnosed Children’s Day, is that it raises awareness among GPs, health visitors, midwives and paediatricians so that families who walk in our shoes in the future don’t have to walk alone for so long, or to ride the emotional roller coaster that we did, thinking for so long that with no diagnosis, there must be no difficulties, only to realise with time, that it doesn’t mean that at all.

I also hope that, like Down’s Syndrome and Cerebral Palsy, being undiagnosed quickly becomes a widely recognised condition, so that parents like us don’t face the shock, alarm and disbelief that we did as we realised that clear test results didn’t actually mean an ‘all clear’.

But also, my hope for Undiagnosed Children’s Day is to say to families starting out on the same path as us, and to those supporting them, that having a child with severe disabilities, with an entirely unknown future, while difficult, has brought many more happy times to our family than unhappy ones.

That while disability felt utterly terrifying, that as humans we are resourceful and capable. While we never expected our lives to get so complicated, we wouldn’t change it for the world.

SWAN UK needs your help!

You can help support families with undiagnosed children by donating to SWAN UK.

Currently a large proportion of the money that supports SWAN UK comes from National Lottery grant funding that is due to end in April 2016. The charity must secure alternative funding to continue to provide their unique service to families of children with undiagnosed genetic conditions beyond this date.

The money raised through Undiagnosed Children’s Day 2015 will go towards supporting SWAN UK in the future.

Donations to SWAN UK can be made via texting SWAN11 £[amount] to 70070 or online via their Virgin Money Giving page.

Thank you.

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Undiagnosed is…

“But how can he have no diagnosis, how is it possible not to have a diagnosis?”
When Orange’s mystery condition was first becoming apparent, I simply didn’t entertain the thought that we might never receive a diagnosis. While we waited the interminable weeks and months between (many) tests and their eventual (non) results, I mounted a personal search mission to seek out information on every potential syndrome, disorder and brain-related condition I could, in a hope of finding a match for his symptoms. As soon as little heads had hit pillows at the end of the day and the house was quiet, I would affix myself to the sofa, wine in hand, and delve alone, pulse rocketing, into the depths of every medical report and journal I could lay my hands on via Google.
I can’t count the number of times I sat in front of a blank search box, panic stricken, filling it hopelessly with various strings of symptoms, longing for an answer, thinking that if only I could just get the combination of words right, Google would magic an answer, even if it was one I wasn’t ready to hear:
“torticollis + hypospadias + hypotonia”
“low muscle tone + delayed development”
“poor head control + development + mobility”
There had to be an answer. There just had to.
But the more I Googled, the further I sank into a vacuum of seemingly endless syndromes, neurological disorders and brain-related conditions, any one of which matched Orange’s symptoms. I soon realised my naivety. I learned how little we actually know about the human brain and body. Not only are there thousands upon thousands of known genetic, metabolic and neurological conditions that just might be the cause of Orange’s difficulties, there are also thousands, possibly millions, more that we have no idea about, that there is no name for, no prognosis, no sure-fire therapy or treatment path.
Science is a wonderful thing but, as I quickly discovered, it simply hasn’t caught up yet. Humans are continually presenting science with mysteries it has not yet been able to solve. My own research, and the hollow, hushed medical voices and grave, guarded consultant’s faces we were meeting, had told me there was definitely a ‘something’ but the nature of that ‘something’ was anyone’s guess.
For a while there, right back at the beginning, the void left gaping by this undisclosed mystery was, I’ll be completely straight up, more than I could sanely endure. I clung on to calendar dates in the diary when test results were due, existing in between times under a heavy cloud of denial and hope. I survived borne up largely by a toxic amalgam of cheap chocolate, bad TV and wine. I shut the world clean out and ruminated, alone in a tired and frightened head, agonising over how I might bear it if another day ticked past without knowing what the future held for our boy.
Three years, several house moves and a complete change of lifestyle on, and my perspective over Orange’s ‘undiagnosed-ness’ has changed completely. While new and terrifying medical symptoms have reared their ugly heads during this time and veered me straight over the top of my own personal fear scale and back again, we have learnt as a family to live with the unknown and face the challenges head on. Not just to survive, to exist, allowing the days to pass. To really live.
To us, ‘Undiagnosed’ has come to stand for many things that we are learning along the way:
 -Unknown is OK. For a planner, someone who likes to schedule life to within an inch of itself and maintain full control at all times, this was a toughie. Not knowing what Orange’s life expectancy might be, whether he will learn to walk or talk, whether any future children of ours or Beep’s might be affected, took a while to be comfortable with. These unknowns are all so huge, that if we pondered them too much or too often, they would simply swallow us up. Whole. Instead our focus has shifted to the here and now. We have no choice but to live entirely in the moment, with only a half-eye scanning the horizon from time to time. And I’ve discovered this is a far happier way to live.
– Unknown = Unlimited. No-one can tell us what the future holds for Orange. Some have cautiously guarded us against being too optimistic and our lives are now filled with machinery designed to help us with the practical aspects of having a child with very limited mobility. (I won’t pretend I didn’t feel angry at the world for a while when the lift shafts were being dug out of our beautiful seaside garden, or feel more than a little sadness that Orange’s ‘big boy bed’ is more cage than racing car, but with the right practical equipment in place we are free to enjoy our boy.) The flip side of the unknown is that no-one can place limits on his potential and he continues to surprise us. The boy who ‘might not ever be able to do anything’ keeps showing us that he can, he wants to, and he will.
– Understanding comes from unexpected places. When life trips along easily and without upset, it’s easy to skim over the relationships in your life without paying much heed to their depth or authenticity, or really connecting emotionally with those around you. But when you are plunged head first into adversity, superficialities melt clean away and you learn a great deal about people and their individual outlook on life. It’s illuminating and enriching.
Having Orange has taught me that even though your neighbour, boss, old school friend or postman may not be facing the same personal anguish as you, everybody is dealing with their own fly in the ointment, their own deep water to wade through. Perhaps the greatest and most immediate understanding I have encountered so far, of the emotional challenge that ‘undiagnosis’ presents, came from an old work colleague of mine who I hadn’t seen for years but was doing her utmost to live a bountiful, joyful and love-filled life against the backdrop of her own terminal cancer.
– Undiagnosed is not unusual. In fact, it’s really quite common. There were we thinking we were unique, different, one of a kind, when it turns out there’s quite a crew of us all swimming around in the same strange pool. As fate would have it, the very year Orange was born, a group was reconvening and coming together to create something that unites families like ours to face the unknown as one.
SWAN UK is the charity that supports families with children who have a ‘Syndrome Without a Name’. Through this charity I have met some of my now absolute favourite people. I have laughed with them, cried with them, celebrated feet taking their first steps aged 13 and mourned babies lives lost. We decipher genetics results together, make battle plans for dealing with errant education authorities or consultants that lack bedside manner. We enable each other to continue in our roles as advocates for our children and pick each other up when our energy and emotional strength is depleted. We ride a pretty intense roller coaster but what makes it ok is that we do it together.
And so now, we celebrate our strength in numbers, and the wonderfulness of our SWAN children, with the second Undiagnosed Children’s Day, on Friday 25th April 2014. To celebrate, I leave you with this fabulously sweet and funny video that explains all about why Undiagnosed Children’s Day is important, because in the words of little Dominic (the cool dude in the Rolling Stones t-shirt who stars in the vid), ‘we don’t all get to be adults’…

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Swans and angels

It is with enormous sadness we learnt today that one of the little children in our SWAN UK group has passed away. She was only one. A sweet baby girl for whom the angels have come too soon. We have been thinking of the family all day and at 7pm tonight, many of us lit candles in memory of her life. The SWAN UK facebook group is alight with beautiful candles, shining bright, alongside messages of support for the family. It is times like today when I feel hugely proud to be part of such a wonderful group of people. Gentle, compassionate and thoughtful, all the while living with their own difficulties, grief and fears.

This is not the first time in our group that we have lost a little one and it is with a sorrowful heart that I know this will not be the last. I also know that one of the many things that bonds us is that all too many of us have played through in our heads and hearts the loss of our own child. It is a fear that lies in wait, often swept from the front of mind by the necessities of maintaining continuity of daily life, but hiding in a corner of the soul, a disquieting constant.

With an undiagnosed child, the future is unchartered territory. A continual pendulum swing between fear and hope that can curve in any direction in the blink of an eye.

A lot of the time, our lives continue in much the way they ever did, albeit with a lot more work and some logistical challenges thrown in to the mix.

Sometimes, our lives are filled with greater fulfilment and happiness than ever imagined possible. The small things take on a previously unfathomable magnitude.

We keep our heads up and our hearts strong.

Sometimes, though, our lives bring great sadness. Tonight a family is grieving. And a bigger family grieves with them. Linked not by flesh and blood but standing together, bonded by an unplanned voyage into the unknown, holding a little girl and her loved ones in our hearts.

The speech of Ummms.

Introductions can be awkward at the best of times. Unless you’re in the hands of a skilled social butterfly who seamlessly brings people together with charm and ease, there’s always that little silent moment following an introduction where you wonder who might speak first after the flurry of ‘lovely to meet you‘s’ and ‘how do you know so and so‘s’. Will you launch into laid-back conversation with your new acquaintance or will you both be scanning round the room in ten seconds flat looking for a rescue buddy, a passing canape tray or willing your phone to ring so you can make a polite exit?

As a natural-born introvert who somehow ended up in the world of PR (I know, don’t ask…), oft surrounded by the gregarious and generous of voice and wit, I had to leap the pain barrier and force myself to get really good at filling that awkward little post-introduction moment. Knowing what to say and how to put people at ease in conversation is just all part of the day job, even if deep down I’d far rather be absorbed behind the covers of a good book, than making small talk with strangers. Over the years, it became easy. Second nature.

So it has come as something of a surprise that introducing Orange to new people is causing me a major conundrum. For a good long while he was still small enough that he was just like any other little baby in a pram, tucked up inside and usually asleep, it was hard to tell there was much different about him so there was no need to make any grand declarations other than ‘this is Orange‘. But now?

Now, Orange is two and a half. He’s two and a half but he can’t toddle about leaving a trail of destruction in his wake. He’s two and a half but he can’t interrupt a conversation with a pointed ‘mummy, mummy, MUMMY!’. He’s two and a half but give him a Brio train set and he’ll bring each little wooden train right up to his face and examine it in great detail but he won’t know to push it along the track. He’s two and a half but he has no idea what to do with a bread stick or a chocolate button, nor could he chew them.

Orange is discernibly different. Not just in his delayed development but in himself. His quirky little ‘knocking at the door’ and ‘milking a cow’ hand movements, over-enthusiastic vocalisations, bendy, floppy little body and wacky little eyeballs mark him out instantly as a child definitively set on an atypical path in life.

When we meet new people who have no previous idea about Orange’s differences, I am acutely aware of a need to fill that gap after the ‘this is Orange‘. Maybe I don’t need to. I could, of course, leave people wondering. But stepping into their shoes I feel their questions rising and I want to counter them. I see their double-takes and I want to pre-empt any awkwardness they might feel by having to ask. I sense their concern and want to spare their feelings even if at the expense of my own.

If I don’t provide a fitting suffix for introducing my son, I’m leaving open a huge elephant in the room that I don’t want people to feel they have to ignore, pussy foot around, or avoid asking questions about. I want to talk about Orange and I want to talk about his difficulties, in as positive a light as I can. After all, if disability isn’t talked about, it remains taboo. And once it has been talked about, the air is free to be filled with regular conversation, laughter, chat, and enjoyment of the personalities in the room, including Orange. Those who know him will tell you he is a really charming, cheeky and funny little chap and it is this I want you to see.

But knowing what to say to satisfy the immediate and natural curiosity peaked by Orange’s idiosyncrasies is a puzzle I haven’t solved yet. I’ve toyed around with a few things but none have yet seemed fitting and most end up in a pretty incoherent rambling speech of ummms:

‘This is Orange, he’s, ummm, he’s two, but he’s not, well ummm, what I mean is, he’s two but he’s developmentally delayed, because, well, ummmm, we don’t really know why but he can’t walk and, er, he’s not talking yet, and he’s really fine, yes, ummmm, he’s fine but he also has epilepsy and he stops breathing and, ummm, sorry, you probably didn’t want to know that, I didn’t mean to scare you, yes, ummmm, this is Orange…’

It pretty much always goes something like that. I haven’t yet found a graceful and easy way of introducing Orange. Certainly without saying ‘ummm’ a hell of a lot. I know I’m not the only parent of a child with additional needs to struggle with this. After all, we really just want people to get to know our child for who they are, their personalities, likes, dislikes, quirks and charms. Without a diagnosis it’s even harder. I can’t say ‘Orange has autism’ or ‘Orange has cerebral palsy’ to explain his differences.

I could brush over it and move on, but I want people to feel that it’s ok to talk about differences and disabilities. It helps the world make sense of it. Understanding leads to acceptance. So to anyone I might meet one day with Orange in tow, I apologise in advance for the speech of ummms. I’m working on it 🙂