Sunday, 16 February 2014

The Unknowing

Today is a good day.  Today should be a great day.  One of the best of days.

Today we got the results of the next round of mitochondrial testing for Little J.  He has tested negative for all common genetic mutations associated with mitochondrial disease.

That means it is highly unlikely that he has mitochondrial disease. Devastating, progressive mitochondrial disease.

I should be ecstatic. Celebrating.  Jumping up and down letter in hand feeling the weight of two years worth of fear finally lift.

Only I can’t be.  Don’t get me wrong, I am relieved beyond words.  I am filled with overwhelming thanks to whatever force of fate flicked it's wrist and pushed us off that diagnostic course.

But I can’t feel joy.

I can’t feel it because I know how lucky we are.  Because along this journey we have met people who have been affected by mitochondrial disease in the worst way.
   
Because I have done the reading.  I have witnessed the pain and devastation of uncontrollable neurological symptoms on a tiny, innocent child. I have read what neurological decline looks like.  Fallen to my knees behind closed doors. 

Because I now know the statistics.  And I know that for someone, today will have been the worst day.

Because I know.

And before I didn’t. And I can’t unknow it.

I remember the first time I asked a doctor if my son was going to die.  I remember the slight panic in her face, the shift in her weight, the glance to the door as she no doubt wondered how on earth she had the misfortune to be the one to get ‘that question’ first thing in the morning. She knew what I was looking for.  I was looking for an expression of shock that I could even suggest such as thing.  An ‘oh no, this kind of thing happens all the time and the children are just fine.’  Or at least an ‘it's very unlikely.’  Her actual answer was brilliant in its avoidance.  It was delivered with Shakespearian precision, so much so that I wonder if it is passed down to new doctors as a medical rite of passage.  A piece of political rhetoric.  The words to get you out of the firing line.

‘We are dealing with the unknown.  Both for you and for us.’

Erm ok. Thanks for clarifying.

The actual words ‘mitochondrial disease’ weren’t mentioned for a long time.  No one wanted to scare us.  Retrospectively I suspect it was high on the suspect list early on.  Instead, we were told about metabolic disorders in general.  Mitochondrial diseases fall within the wider spectrum of metabolic disorders.  What does that mean?  Er…well…ok I’ll try.  If you are medical, you may want to look away now, because this is going to be clunky at best.  

A metabolic disorder results from a genetic flaw that disrupts the process of turning food into energy.  It can lead to too much or too little of vital chemicals.  For example, the body may not be able to remove amino acids, leading to a dangerous build up.  Mitochondrial conditions specifically affect mitochondria, which form the ‘powerhouse’ of every cell in the body.  They produce energy and when that process is disrupted, the outcome can lead to multi organ failure.  There are different mitochondrial conditions, with varying levels of severity.  I don't want to sound completely negative - there are people who live a normal life expectancy with a mitochondrial condition.  However, when the symptoms appear dramatically in infancy and progress rapidly, it can signal the most severe forms.

Sounds like I know what I am talking about? Well, not really.  Actually, no one has ever sat us down and said ‘this is EXACTLY what it means’  It only takes a cursory glance at Google to find out though.  Instead it was hinted at, implied.  Retrospectively, it makes an early conversation with a senior consultant make a lot more sense.  The one where he told me that, at that point, we didn’t want a diagnosis, 'because then you will be condemned to it.'  That night, as I furrowed my brow and huffed in frustration at our lack of answers, I didn’t get it.  I do now. 

But at first, we didn’t know.  In fact I didn’t really understand the meaning of any metabolic conditions until the second time I heard them mentioned.  When the tone of delivery was oh so different.  The first time was from a doctor as he headed out of the door.  He turned back, looked at me and said breezily ‘it may well be a metabolic condition.’ Oh.  Ok.  Well that doesn’t sound too bad.  Metabolic.  Hmm…search memory banks.  Where’s GSCE biology?  Oh yeah, metabolism.  That’s got something to do with making you fat or thin hasn’t it?  Right.  Well, ok so Little J may not be very good at the Atkins diet. Whatevers.

I dutifully relayed this information onto my husband over the phone.  It was during this hospital stay that I learned the peril of my own obstinance.  You see up until this point I had outright refused to get a 3G phone.  I had an old brick that I knew how to use and was perfectly happy with.  I couldn't accidentally bang a touchscreen and phone China, or Facebook a string of asterisks.  I also had zero internet access.

Half an hour later he rang me back.  His tone on ‘hello’ told me all I needed to know.  The delivery of his first line slammed reality into focus.

‘I’ve just Googled metabolic disorders.’

What he had read featured mitochondrial disease highly.   It was information that I was to read again and again in the coming year.  Each time with shock.  Fear that this could be our little boy’s future.  That we could be facing a frightening decline.  But most of all shock about one key thing.

I didn’t know. 

How could I not know?

Like every new parent I had done the ‘what ifs’.  I had read how to spot the signs of meningitis; I had worried about well known childhood conditions.  But at no point, when I planned my sons future.  When I stood heavily pregnant and bought the soft white rabbit that I would later cling to in a dark hospital room.  At no point did I think ‘what if my baby has mitochondrial disease?’  How did I not know?  

How could I never have come across a something that, whilst rare, is as common as other well known serious childhood conditions? How could I not have read an article, seen a documentary or cried at a charity advert? 

How could I not know what so many families are going through?  I have no right to even talk about it, as I don’t know.  Fate went our way.  But we teetered on the edge of that overwhelming chasm of fear.  We peered in and it was heartbreaking.  We watched Little J get worse and worse and felt like all control was ripped from our lives. I remember falling asleep in his room, having left him in hospital, wondering how.  Wondering how we would ever hear the songs he loved again, see his toys, set foot in this room.  How we would put one foot in front of the other at all if the worst happened.
  
It didn’t.  With the right medication he underwent an unexpected and dramatic turn around.  But I remember the crushing weight of this potential diagnosis and the difficult process of having to spell out exactly what it would mean to anyone who asked.  And I had to spell it out.  Because they hadn’t heard of it either.

Even within the general medical community awareness is low.  When we moved house last Christmas we were awaiting our muscle biopsy results.  The first GP I mentioned ‘possible mitochondrial disease’ to looked at me like I had said Little J had a bit of a cold.  He rushed through the rest of the appointment and ushered me out of the door.  I later realised that he hadn’t really known what it meant.  In fairness to him, we have since gone back to see him and he couldn’t have been more supportive.  

However, our reason for returning to him was our experience with the second doctor we saw.  I told her that we were awaiting muscle biopsy results, that Little J had regressed developmentally again, that initial findings had showed minor abnormalities in the mitochondria (now thought to be insignificant).  Her response was one of the coldest, most poorly thought out sentences I have ever heard.  

‘Yes, well it does sound like a mitochondrial diagnosis is increasingly likely.  So I suppose the main concern now is for future pregnancies.’   

She wrote off my child’s worth in one sentence.  I was speechless. Unable to object or defend. I know what she meant. What she really meant is ‘we can’t treat this, so for the love of god don’t get pregnant.’  Only in trying to make it sound better, she flipped it into a knock out emotional punch.  I held it together in front of her, then walked back to our car, tears streaming.

Over a year on, we finally have our more conclusive answers.  Well.  Ish.  Is mitochondrial disease completely off the table?  Unfortunately no.  It is notoriously hard to diagnose.  The next step will be to sequence Little Js mitochondrial DNA, but it is now feeling unlikely. He is also moving forwards, not backwards developmentally. In terms of prognosis, that is very positive and very significant indeed.

We will never forget the last two years though.  We will never forget the people that we have met, both face to face and virtually, and what they have gone through.

There is now some support available to these families.  In 2007 The Lily Foundation was set up by parents, in memory of their daughter.  They are going from strength to strength, supporting families and raising awareness.  And increased knowledge means intervention, it means funding and I hope, eventually it means change.

Mitochondrial disease is not an easy thing to know about.  Some days I wish I didn’t.  But there has to be knowledge.  There has to be understanding.  Families shouldn't have to explain something so difficult again and again and again.

I can’t say anything to make it better.  I can’t do much, except ask people to know.  So, instead I am just going to remember how lucky we are, hold my boy a little closer and share the Lily Foundation’s video via this link.

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