Thursday, 24 April 2014

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’…


  1. What a fabulous post. I can identify with so much of what you've said here, except the planning bit. My life seems to be me lurching from one chaos to another. Fancy giving me lessons?!

    1. Ha ha! Thanks lovely. I'm not sure how successful my planning really is these days. Not much can reign in chaos! Loving the video. Can't stop watching it. You did a fab job with it xx