Wednesday, 10 April 2013

When the Moment Hits: A Post for Undiagnosed Children's Day

This should be the easiest post I have written.  Saturday is Undiagnosed Children’s Day.  The one day that undiagnosed families have to call their own.  Our chance to raise awareness, raise funds and tell you all why our cause is so important.  I have spent years working in the charity sector – this should be easy.  Right now I should have fundraising training ringing in my ears.  I should be grabbing you with carefully constructed emotive statements and then backing them up with shocking statistics.  This should be the post that writes itself.  So why am I staring at a blank screen?

It’s because everything I could tell you, all the things I would usually say don’t seem enough.  They verge on preachy, even a little obvious.  Yes, I can tell you why it is important.  I can try to explain why the community of undiagnosed families that SWAN UK has created matters, but I will just be making broad statements.  I won’t really be telling you.  I guess to really get it across I need to take a deep breath and go back and instead, tell you a story.  The story of the moment my little boy became ‘undiagnosed.’
It’s a story I have held back from telling until now, because it felt a little bit ‘too much’.  I would start to detail it slightly and then a good old dose of British reserve would kick in and tell me that ‘no one wants to read that over a cup of tea of an afternoon’.  But then I realised how little is actually known about what it means to be undiagnosed. I realised why stories like this matter. They matter because they help explain what it means to be undiagnosed at its toughest. What it means to be suddenly slapped in the face by the unknown and why having a community of people who understand is so very important.  You see something that many undiagnosed families share are ‘moments’.  Moments where you sit down afterwards and think ‘what the hell just happened?’  Many of us have had those moments.  Many of us worry about having them. In comparison to some other families, our 'moment' seems minor. Many other SWAN bloggers have shared their ‘moments’ with such eloquence and raw honesty. You can read some of those posts here and here.  And so I have decided that it is my time to share. Our ‘moment’ happened on the day Little J became an official enigma.  It was the moment that categorised him as impossible to categorise.  The day he became undiagnosed.
To explain our moment, I have to take you to a few days before.  We had just been re-admitted to hospital, with Little J experiencing full body muscle spasms.  We now know this to be dystonia, but at the time, we were caught in the NHS ‘department trap’.  After a normal EEG and MRI, the consultant thought it was caused by pain and a gastro problem, but given that he was shaking, gastro thought it was a neuro problem.  Throw in the fact that the neurologist was on maternity leave and we fell straight through the cracks.  We had been discharged a week earlier with no follow up and a child in agony.  This time we had come back via A&E and we were going nowhere.  I’d psyched myself up for a battle, I’d strategically placed the ‘Making a complaint to your local PCT’ leaflet by the side of the bed.  We were not getting discharged until someone did something. 
We saw the on call doctor at 2am.  She just happened to be from the gastro team – perfect.  She even agreed that there was something seriously wrong – amazing.  But then, our conversation ended.  Her pager began to bleep and she looked shocked.  Confused. I never saw her again because of what happened next on the ward.  I won’t go into detail, because it’s not my story to tell, but a baby on our ward suddenly became incredibly ill.  Thankfully, due to modern medicine and the work of the responding medical team, he recovered.   
We were in the bay right next to the nurse’s desk.  The bay where, like it or not, you can hear everything that is being said.  So I heard the response.  The running footsteps of doctors appearing from all over the hospital.  The nurse’s voice as she directed everyone on where to go. That night I learned what happens when a crash call is made.  I sat in our little bay, looking at my sleeping seven month old and my heart broke for that family.  I couldn’t even begin to imagine what they were going through.  Just three days later another call would go out.  Those same doctors would come running.  This time it would be for my little boy.
Let me start by saying that Little J did not go into arrest.  But it was a drop in heart rate so sudden and low that the nurse felt it was the right thing to ‘make the call.’  All this for a child who had no major medical issues in his first six months and who was due to be discharged just 24 hours earlier.  You see we had a 24 hour build up to this moment.  Mini moments if you like.  After some wrangling the doctors had agreed that we should see a neurologist in a few weeks.  As there was no neurologist there, an outpatient appointment at Great Ormond Street was the only option.  On the day we were due to be discharged, I was holding Little J and something very strange happened.  He suddenly stopped breathing, just for a few seconds and then went floppy in my arms.  The doctor felt it was ‘probrably just reflux’ but if I was ‘going to stand over him all night’ we could stay for another night and leave before ward rounds the next morning.  I ummed and ahhed and decided that my feeling that something was wrong outweighed my guilt in inconveniencing everyone.  That night, Little Js breathing paused dangerously twice and he was put on oxygen.  The next morning he had his first full ‘recognisable’ seizure.  By recognisable, I mean the kind you see in films.  The terrifying kind.
So it was then decided we were not going home.  Instead we were going to the High Dependency Unit.  The High Dependency Unit had just opened after a major refurb.  It was clinical, long corridors, amazing equipment, high security, lots and lots of glass.  A pleasant enough place, but the kind where you pause before turning a corner in case you come across Hannibal Lector behind a glass screen.  It was also very empty.  Two nurses on the desk and only a few other children; only one in the open plan area we were in. 
After an exhausting morning, my husband suggested I go for a walk.  We needed food for Little J anyway.  After a promise that he would let me know if anything happened, I went downstairs to take a breath and run to the shop.  I was headed back when my phone beeped.  It was a text message.  One line.  ‘He’s had another one’.  I picked up my pace and tried to call him. The phone rang out.  It rang out again.  Why wasn’t he answering?  Something was wrong.  Now I was running.  Down the corridor to the unit.  I reached the door and rang the buzzer.  Nothing.  I rang again.  Nothing.  There was no one on the desk.  The nurses weren’t there.  Where were they?  I could just about see the main body of the unit from where I was.  The corridor which had been empty was now filled with activity.  Doctors and nurses going back and forwards.  I knew what had happened instantly.  This was a crash call.
My baby was crashing and I was on the wrong side of a locked automatic door.  The worst was happening and I wasn't there.  I rang the buzzer again and again.  I slammed my palm repeatedly against the glass hoping that someone would hear me.  They didn’t.
When I finally got into the unit, calm had been restored.  They had managed to pull Little J out of the seizure with medication before his heart rate dropped any further.  But things had changed.  As the doctor told us that night, ‘at least now we know.’  What she actually meant was ‘at least now we know that we don’t know.’  She meant that he was clearly suffering from a neurological condition.  That with a normal EEG and MRI, it was genetic and likely very rare.  It emerged that Little Js seizures were prompted by a standard childhood illness. No one really knew what had happened.  Had he had a string of unusually bad febrile convulsions?  Was illness a trigger for seizures that would have happened anyway?  Either way, it was clear that something was very wrong.  Words like ‘metabolic’ and ‘mitochondrial’ started floating around.  It was becoming clear that we were starting off on a long journey, with no guarantee of answers.
A few days later we did see a neurologist at Great Ormond Street.  But we didn’t walk through those famous doors the way we expected.  We weren’t arriving for a casual outpatient appointment to see ‘if’ something was wrong.  We arrived flanked by a High Dependency Unit Ambulance Driver on one side and a nurse carrying emergency resuscitation equipment on the other.  I was allowed to carry Little J.  Despite the monitor wrapped around his foot and the general inconvenience to everyone, I was able to carry him.  Because if he was starting on this journey.  If he was going to face pain, invasive tests and endless challenges; then I was going to carry him.
And so, Little J became undiagnosed.  At this time, we hadn’t engaged with SWAN UK.  We had no idea that so many children were undiagnosed, or that there was a whole community of people out there.  A community who all too often have to carry one another.
So there is our moment.  I hope it helps to explain why SWAN UK are important, without having to explain.

We are incredibly lucky that it is not a moment that has been repeated.  We have seen no more of those big seizures.  But remembering the moment is important.  It keeps complacency at bay.  It reminds us that just because he is on a top dose of epilepsy medication (prescribed for his movement disorder) and just because the aponea monitor hasnt alarmed for months - we always need to be on alert. 
This Saturday we will mark Undiagnosed Children’s Day with optimism and happiness, walking 30 miles in support of SWAN.  We have every reason to be positive because we are very lucky to have our beautiful boy and the support we have had.  But we will not forget the moments.  Amidst the morning cuddles with our boy, the exhaustion mid walk and the celebratory drink at the end; we won’t forget the challenges and the difficulties that too many families face each and every day.   

This post is part of the SWAN UK blog hop.  To return to the blog hop, click here.


  1. So glad the support at SWAN has helped, and I hope little J is doing okay. Perhaps at some point in the future you might get some answers.
    Take care

    1. Thank you. He is doing much better these days thank you and no scary moments for quite some time! Hopefully we will get our answers eventually.