Friday, 12 April 2013

Happy, Hoppy Undiganosed Children's Day


So, Undiagnosed Children’s Day is almost upon us.  As part of this, Gingerbread and Sunshine is part of the SWAN UK blog hop.  I often mention all the other fabulous SWAN bloggers and rarely have opportunities to link to their blogs as much as I would like.  Now I can!
Below is a list of posts for Undiagnosed Children’s Day.  Some are about what the day means.  Some simply sum up what it means to be undiagnosed.  Some are moving, some are funny – they all give a little insight into life without a diagnosis.  We will all be displaying this list and each time a new post is added it will automatically update across all of our blogs (clever eh!)
So if you are interested in learning more and in hearing the diverse voices of the undiagnosed community; see if any of the thumbnails below take your fancy, then get yourself a cuppa and get hopping! 

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.

Monday, 1 April 2013

An Uncomfortable Question: What Makes us who we are?

There is a boy.  A boy I once thought of often.  When Little J first began to show symptoms, I would often picture him.  I would think about him from our hospital ward, as I tried to fall asleep amidst the out-of-time rhythmical beeping of different machines and the strangely comforting chatter of the nurses.  

The boy I would think of looked just like Little J, but he was a little bit older. His life was much easier.  His arms moved smoothly, his hands meeting their target with ease.  He pushed the buttons of his brightly coloured toys without hesitation and laughed at the unfailingly irritating noises that they offered up in return.  He was the boy that would run towards me with a big smile of recognition on his face.  He would stretch out his arms to me, saying ‘mummy’ and collapse in giggles as I picked him up.  He was the version of life that we expected.  The version that I was hoping would happen, as if by thinking about it, I could make it become true. 

I would be lying if I said that I never think about that version of life, but I don’t mentally picture it any more.  I no longer feel a guttural emotional pull to that ‘other’ child.  I am not drawn to him because the gap between him and my Little J has grown to such an extent that it cannot be reconciled.  That child, the ‘normal’, healthy child does not elicit a maternal response from me anymore.  This is because he is quite simply not the child that I love and adore. I am not drawn to him - because he is not my son.

This is in part because I have come to understand more about Little J’s condition.  The unnamed syndrome that now defines so much of our lives.  I have come to understand the role that genetics play in determining who each and every one of us is.  I did not see this before.  I thought in polar opposites.  I saw ‘unwell’ and ‘well’, not the immensely complex area in between.  Back then, this unknown condition was the beast that stalked us, dragging us further from the subjective notion of ‘normality.’  I remember on one particularly bad day, watching Little J totally unable to control his own muscles, struggling to stay in my arms.  I remember thinking how I hated this condition.  How I needed to know what it was called so that we could learn how to fight it.  I remember begging. whispering to the unknown; asking it to ‘just leave him alone.’  I didn’t understand.  I didn’t see what I see now.  It isn’t a separate entity.   It is caused by genetics.  It is governed by a quirk somewhere in our little boys DNA, which could also affect countless other things about who he is.  It is not our enemy.  It is part and parcel of the child that we love.

I am slightly ashamed to say that whilst I have attempted to make this sound like a life affirming revelation born from deep thinking; it actually started with the completely superficial.  The first time that a doctor commented on Little J’s super soft skin I thought, ‘why thank you very much, what a lovely thing to say.’  By doctor number three I was starting to realise that there may be more to this.  I have since come to understand a little about ‘genetic indicators’ and realised this unknown gene may have influenced many things about his appearance.  That shock of super blond hair, with rogue little curls that are a completely different length to the rest.  Those impossibly blue eyes with a star like pattern that winds hypnotically out from the pupil.  Would they be the same without this genetic oddity?  Who can say?  But wondering about this changed how I felt about that other version of life.  Because that other version of Little J?  Well he became a bit hazy.  When he ran towards me I didn’t really see his face anymore.  I couldn’t see it, because I no longer had the faintest idea what he looked like.

But the big one.  The realisation that really changed things for me was personality based.  You see, Little J is happy.   He is very happy.  Don’t get me wrong, we have plenty of tears and challenges, due in part to frustration at the things he cannot do.  But in general he is a very smiley, giggly child.  In this respect, we are very lucky. Even when he is suffering with pain, or faced by yet another invasive test, if you are willing to dance and sing manically like a CBeebies presenter on a pub crawl, he will reward you for it.  He regularly collapses into deep belly laughs, completely unable to stop.  It is a wonderful, beautiful part of who he is.  And I am starting to realise that it is not entirely typical for a child of his age, or even his developmental age.  What really brings this home to me is when I take him to any activities which involve songs or music.  Other children may offer up a brief laugh, or a smile here and there.  But for Little J, a round of ‘Wind the Bobbin Up’ is worth so much more.  It is, in his little world, the BEST THING EVER.  On more than one occasion I have had to momentarily pull Little J away from a group song in order to ensure that he remembers the importance of breathing amidst the hysterical laughter. 

I used to think that was just what young children do.  Now I’m not so sure.  The older he gets, the more I see that this demeanour and his indiscriminate affection for everyone he meets is not in line with most young children. I have never seen him deny a hug to anyone (ensuring ego-boosting extra squeezes for mummy and daddy).  And so I realised that I didn’t even know about the personality of that ‘other ‘ Little J.  The ‘normal’ child that I used to think of.  Would he be smiling quite so much as he ran towards me? Would he be as affectionate, or collapse in giggles as I picked him up?  I realised that I didn’t know the first thing about who that child was. 

And so that is how I came not to really care about that other version of our lives.  That alternate reality where life is so much easier, but that little bit emptier. 

It has also really made me think differently about disability.  Don’t get me wrong – I know that this is in no way the case with every genetic condition.  Children can be affected in countless ways and my feelings may not remotely echo those of other families.  However, for the reasons above, I can’t help but feel that the impact of this genetic quirk extends far beyond the medical for our little boy.  I imagine that to the casual observer, the assumption would be made that we are desperate to ‘fix’ Little J.  To make him ‘better’.  If I am really honest with myself, I would probably have thought the same.  I am not na├»ve about the complexities that the future will bring and there are days that I would give anything to make his life easier.  But the waters are now very muddy indeed. I recently read two very interesting newspaper articles.  Both were by parents of disabled children.  One felt strongly that his daughter’s disability was part of who she was.  It was not something that anyone should feel ‘sorry’ about.  The other challenged this approach and an ‘idealistic’ view of having a child with special needs.  She would take away her child’s disability in a heartbeat, no hesitation.  I read both.  I empathised with both. It made me ask myself the question at the heart of both articles and I really don’t know where I stand.  If I somehow had the choice, if I could ‘fix’ that little genetic quirk and the risk of changing who my son is, would I?  There was a time I would have thought this was the easiest question in the world.  How wrong I was.

My instinctive response to even thinking about this is to mentally scream no.  To shut the curtains and hold him close in case some unknown force were to whisk him away.  It makes me think that the problem is not his.  The problem is society’s attitude to that which it perceives as ‘different.’  Why should he change for anyone?  I think about how his pain is greatly improved and I genuinely believe that we will soon have it completely under control.  His life is happy and fulfilled.  We will do whatever it takes to keep it that way.  We will strive to achieve in our own way - and achieve we will, together.  We will always have our little moments of grief, wishing things could be easier for him.  We will have our moments of fear.  But we do not spend our days consumed by sadness.  We are immensely proud of our son.

But then logic starts to scream just as loudly.  It tells me to stop with the hippy crap and face reality.  The world is the way it is and it will remain that way.  It reminds me that life with a complex disability is unbelievably hard. It reminds me that we don’t know what the future holds or what level of independence he will have.  It tells me that one day we will be too old to care for him and he could be at the mercy of an underfunded, often frightening state system.  It reminds me how frustratingly trapped we are – financially impacted by his condition, but needing huge amounts of money to give him all that he needs.  The alternative is independence, a life, maybe a family of his own.  What kind of mother would not instantly consider that the better option?

Would I really choose for our lives to be this hard? For us to have to fight for everything?  Would I not choose to make his future secure and keep him safe?   Would I not ensure that he never has to face abuse and prejudice due to disability?  Would I not remove him from one of the most consistently marginalised groups in our society?  Would I not want for him to be free, to be mobile and to live a ‘normal’ life?
Would I change all this if it meant saying goodbye to the child that I know and love?

Would I? I genuinely don’t know. 
Can I? No.

So I guess none of this really matters, does it?