Thursday, 27 February 2014

The Best of the Little Things

A strange, disturbing and equally wondrous thing happened in our house yesterday.  My child was momentarily possessed by a demonic force hell bent upon chaos and destruction.  In fact, I’m fairly sure his head spun round a couple of times. I may have to start looking into holy water.  Alternately, there’s a teeny tiny chance that this was a tantrum.

And I frikin loved it. 

I loved the leg slamming, the infuriated ‘how DARE you’ face, the open mouthed anger wail.  The fact that this was all over a refusal to wear any trousers on a winter day.  I love the fact that if I had produced a pair of flimsy shorts and a sombrero he would’ve let me put them on him without question.  In fact, I just loved the fact that he was being an indignant little…….well, two year old.

You see, two year olds are irrational and troublesome little creatures.  They are easily angered and should be treated with caution at all times.  And that is what my little boy was doing.  Being two.

TWO.  Not another baby milestone that we should have hit over a year ago.  He was just being two.  He was telling me what he wanted.  He was demanding that I follow his rules, in his house.  He was telling me that I know jack about fashion and that these vile trousers from the only-use-when-haven’t-done-washing pile simply wouldn’t do AT ALL.  He was being a toddler.   And that takes us a little step closer to him being able to tell us what he wants, what he needs and how we can help him (most of the time, if it’s another fashion criticism he can forget it). 

This got me thinking about the little things.  The things that I thought were going to be terrible about parenthood.  Those niggly little things that you read about in books, or hear from exhausted parents.  The things that I was dreading with a two year old. And how, in fact, sometimes the worst of things turn out to be the best of things.

1) Mess:  

I admit it.  I have a minor touch of obsesiveness about mess.  I have to mentally categorise my house in order to accept the existence of strewn clothes or unstacked plates.  I have ‘mess zones’ and ‘tidy zones’.  Inside the cupboard – mess zone.  I can’t see it so I don’t care.  The porch – mess zone.  I had to strategically abandon this frontier area to save more populated rooms.  The bedroom….no. no. no. No mess here.  Don’t like unmade bed.  Don’t like clothes on floor.  Same goes for any part of the kitchen apart from the mess outpost that falls within the confines of the sink.  That started off as a tidy zone, but the gradual daily rebel uprising has proven hard to quash.  But…if you overload the bin so that food mess (Why ALWAYS yoghurt?) hits the kitchen floor, then prepare to feel the full force of my wrath.

Only here’s the thing about children.  They just don’t respect the zones.  They drag mess EVERYWHERE.  They have an inexplicable ability to be constantly covered in a sticky ectoplasm like substance that finds its way onto all surfaces.  They also have an unfathomable amount of stuff.  Plastic stuff that breeds and spawns new plastic stuff.  A plastic army worms its way into a room you aren’t expecting, guaranteeing that you will step on its smallest, sharpest edged soldier.

You don't wanna mess with this army....
So when I was pregnant, I was concerned about the mess explosion headed our way. I was ready for a food seeking, cupboard opening, toy obsessed toddler that would roam from room to room, smashing all items in its path like a sugar seeking Godzilla; dropping toys and crumbs in equal measure.

It didn’t happen. Instead I have a little boy with no independent mobility aside from rolling.  He won’t redecorate the walls with my lipstick, or re-design the carpet with finger paints.  Because he can’t.  Our mess is a different kind.  The kind that gets delivered by a rep from a mobility company who teaches you how to adjust your newest piece of offensively coloured equipment and hands you an allen key (which you toss into a bowl with the others whilst cursing the fact you didn’t do an engineering degree).

That was until now.  Little J has a new trick.  When being spoon-fed a bowl of non descript mush he has this telltale little look on his face.  A little smile, quickly hidden and a ‘oh yeah, just keep it coming’ mouth opening.  Only if you look closely, you will realise he isn’t swallowing.  Only you’ve looked too late.  There’s no stopping it now.  He then blows an enormous raspberry, splattering mush all over you and any surrounding surface. Then proceeds to laugh his little head off.  He is demonstrating anticipation, forward thinking and oral motor skills.  So who really cares that our white wall looks like a Jackson Pollock painting.  Pah…I’ll just declare it a mess zone.

2) Constant talking: 

'Mummy.  Mummy.  Mummy.  But mummy.  Why mummy? Why mummy?  Why? Why? Why does the bus have wheels? Why is water wet? Why does that man smell like cabbages?  What’s wine o’clock?'

This is what I expected.  And I admit, was slightly dreading from a toddler.  The inane nonstop talking.  The immense pressure of giving them the right answers and not royally screwing them up for life.  The moments when they get you with a question that you should know the answer to, but actually don’t have a clue about like, ‘where does lightening come from?’

Instead I got something else.  An awful heartbreaking silence.

The sound of a child who cannot speak.  Who cannot even babble.  Little J was getting there.  Last year he had transitioned from constant crying to a slight babble, there was a clear ‘dada’ there and emerging ‘mama’.  Then before Christmas he took a downward turn.  He began to have suspected seizures, up to fifty times a day.  And all of a sudden there was no babble, just crying.  His voice was gone.  Just gone. 

Now, a few months and a boat load of medications later, it is starting to come back.  The noise is becoming a constant feature in our house.  The strange babbly non sensical talk is free flowing.  And I love it.  LOVE IT.  I don’t ever want him to stop making noise.  Should it progress to words, which we pray it does, he can ask me every question there is and I will never object to the sound of his voice.  I even don’t mind his freaky whispered babble.  The one that he always seems to do when he is in bed at night and has scary lit up eyes over the video monitor.  The one that sounds a lot like Latin.  Um, yeah, I even like that one.  Really, it doesn’t freak me out at all.  (Though if it starts preceding the head spinning tantrums I may start asking some questions).

3)  Poo:  

Yep.  Poo.  I know, there’s no nicer way to put it, sorry.  I often try to think of another word when talking to doctors about the contents of Little Js nappy.  But I end up saying ‘bowel movement’ too slowly and it all becomes a bit weird.  I have learned that even the doctors say poo though.  Dr Ranj has a whole song….But, anyway, my point is that before I had Little J, I was deeply disturbed at the prospect of nappy duty.  I read how many they do in the early years with shock and disbelief. They produce HOW MANY?!? I seriously contemplated purchasing a face mask to help the process and then worried that my child would grow up with an irrational fear of surgeons.
At this point, I could never have imagined in a million years that a dirty nappy would elicit a ‘yeeeessss!’ from me…maybe even a high five.   I now have a very different perspective.  I have learned that the digestive system and low muscle tone don’t really get on very well.  Like many parents of medically complex children, we spend far too much time praying to the gods of poo, hoping that they will grace us with an offering today.  And when they do…well it’s high fives all round (& hand him to daddy immediately.)

4) General household destruction:  

‘So, what motivates him?’ Said the physio, whilst attempting to coax Little J into sitting from his position on the shiny padded mat. ‘Oh, that’s easy.’  I said, ‘electrical wires.’

The sudden passing of tumbleweeds suggested that she was looking for something like ‘toys’ or ‘food’.

But, you see, Little J has recently discovered the joy of danger seeking.  He is a nightmare.  If you are with him, he just hangs out nicely, does an occasional little roll about whilst watching Mr Tumble.  Step away for a millisecond and he develops the rolling ability of a military academy graduate, combined with the reflexes of a ninja.  He can spot, isolate and reach his target in record speed.  Think you can leave him safely near a small table with no sharp edges?  No no mummy, you will return to discover that I have added superhuman strength to my powers and I will mostly be found lying under it having lifted up one of the legs, which I am now inspecting for possible gingerbread man traces.

Worrying, yes.  Stress inducing, yes.  Completely awesome, definitely.

5) Defiance:  

This is one that I was dreading with a young child.  What if they just wouldn’t do what I wanted them to?  I hoped for an obedient little angel who would follow my every command with a loving smile.  Little J’s defiance is triggered by one key visual message.  Uniforms.  Specifically doctors uniforms.  Definitely physio uniforms, and if he gets so much of a whiff of antiseptic or spots a therapy bench, there’s no coming back.  Suddenly my child who has quite merrily spent the last two hours sitting and playing becomes completely floppy.  He lies on the floor practising his ‘death stare’ and refuses to engage a single muscle.   

Should a physio somehow manage to get him into a position and attempt to get him to reach out for something, the look of disdain usually heads in my direction.  Along with an anger babble.  A ‘How dare you allow this mother’.  An ‘I furiously object to this manhandling.  This lady has placed that toy clearly out of my reach.  I am fairly sure this breaches the Equalities Act.  You two need to start making some reasonable adjustments, starting with a warm bottle of Neocate.  Chop chop.’

It’s very frustrating.  It’s also an amazing reflection of will, and choice and everything that I so desperately want for him.  It shows his brain trying to win the war with his condition.  He won’t win the physio battle though.  Alright he might.  I’m pretty scared of the death stare.

I admit it, this may all just be a really sad reflection of the fact that our real ‘worst of things’ has been tougher than any of the things I ever considered about having a child.  

But those things aren’t my problem.  They belong to medical mummy.  She deals with hospitals; she holds him down for blood tests, says long words and reads the devastating letters.

Most of the time I’m day to day mummy.  The one that does cuddles and makes lunch (alright…and delivers a shed load of therapies, but we’ll ignore that).  But for this day to day mummy, it turns out that all the things she was worried about with a toddler turned out to be the best of things.

And if the worst of expectations turned out to be the best, then how amazing will the best of expectations be?

How will I feel when he learns to crawl?

How overcome with pride and happiness will I be to see him take his first steps?

How endless will the joy be when I first hear the precious word ‘mummy’?

...I think I’ll be the one who’s head starts spinning round.  And I hope it just keeps on spinning.

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.

Tuesday, 4 February 2014

The Words of Others

This isn’t a usual post for me.  In fact it’s a not really my post.  Its a post that I am struggling find the right words for.  But I have realised that sometimes the right words are the words of others and so, I am hoping that you will take the time to read the beautiful, eloquent posts below.

I have written a lot about the community of families created by SWAN UK.   I have been incredibly lucky to meet many of those families.  Others I have not.  But we exchange messages, follow each other’s journeys and interact daily.  I don’t like calling it an ‘online community’ it suggests a facelessness.  In fact for many of us, it is the one place where we can always show our true face. Drop the brave face. 

Last week we lost a little girl from that community.  She had turned one just weeks earlier.  The news of her passing reverberated around our community and a tide of sadness surged through it; as we struggled to imagine her family's heartbreak and confronted our own fears head on. That evening we joined together and lit a candle for her.  Candles burned all across the country for a little girl who so many of us never got to meet, but who touched us all.

The blog posts below are from other SWAN UK bloggers.  All of them say so much more than I can.  In fact they say a great deal.  For everyone touched by tragedy.  For everyone faced by fear.  For a strong and brave family.

Most of all, For Lyla. x