Thursday, 22 May 2014

The Gene Genie

Ethics and genetics.  Genetics and ethics.  Either way it’s not one to try and say after a glass or two.  Although it may make it easier to get some sense from it all and come to a conclusion (ok, the conclusion may be ‘I need more wine’…but still).

Since our fun little genetic conundrum came into our lives, I have become increasingly aware of the enormous strides that have been made in genetics in recent years.  After all, it was only in 2001 that the Human Genome Project released a working draft of the human genome.  A route map of who we are.  Last month we had another condition ruled out for Little J.  The genetic mutation in question was only discovered in late 2011…in Little J’s own lifetime.  Genetic discoveries are coming thick and fast.  And undiagnosed children are playing no small part in that.

'Whatevers ...I see no features in common.  I'm off 
to change the world with my eco thrash metal band'
Like many other undiagnosed families, we are part of a whole exome sequencing research project.  I know, I know.  That’s a pretty long and dry definition isn’t it…basically the fabulous gene genie (who is probably a researcher in a white coat, but I like the idea that they wear sparkly stuff and go ‘tad ah’ when they magic up an answer with their mystical powers) is going to look at everything with a reeeaaally good microscope.  They aim to map Little J’s DNA and attempt to uncover what little quirk (nicer word than ‘mutation’, which makes me think of adolescent sewer dwelling turtles) has caused Little J’s unique presentation.  Mine and my husband’s DNA will also be looked at as part of this process. There is a chance that this could uncover a change to an unexpected gene.  Or it could just come up blank, only time will tell.  A very, very long time if you are wondering how long this takes.

It isn’t the first research study we have been on, in fact it is the forth.  We have been lucky enough to fit the criteria for research projects looking for specific obscure genes and those testing for ‘panels’ of genes which are known to cause certain symptoms.  As part of this we have filled in numerous pieces of paper.  The ones you skim and sign, because you know it would have to say, ‘by participating in this study you agree to bring fresh coffee and donuts to the research team every morning for the duration of your child’s involvement,’ for you to even consider not squiggling your name at the bottom.  And even then, on balance, you would still sign it (sshh…don’t tell them that).    

Only, the first time I did my cursory skim read of one of these agreements I found myself having a little momentary strop.  My inner teenager did a ‘humft’ and I had to restrain it from a hair flick and an eye roll.  Because it was desperate to shout the adolescent mantra, ‘But that’s just not fair!

You see my eye had caught one specific clause that I now know is a subject of ethical debate in the genetics world.  It is to do with ‘by-products’ of research, or ‘incidental findings’.  It states that if, in the process of investigating Little J’s genes, something else is found that is ‘not relevant’ to his symptoms - be it another unrelated condition or a gene that puts him or us at greater risk of a certain disease; we will not be told. Even if it is a devastating revelation that could ricochet throughout our entire family or affect future children; there is absolutely no requirement to tell us if it is a separate condition from the one they are looking for.

At first this all seemed very odd to me.  I mean, really?  You go to all that hard work, you do all that research, you stumble across something and what? You just pop the lid back on that can of worms and pretend you didn’t see it?   Come on gene genie.  I’ll buy you an even sparklier outfit if you promise to tell us everything.  I’m talking rhinestones here.  Think Cher.  In Vegas.

Most of all, this initially left me..well..perplexed.  It seemed somewhat at odds with medical research.  If the main aim is to improve outcomes for patients, then surely knowledge is power?  But then I started reading.  And I very quickly realised that my inner teenager was fulfilling the stereotype to the absolute max.  Because it doesn’t always recognise when decisions are being made for its own good.

What really highlighted the complexities of this issue to me was a documentary about genetic testing from the United States.  It featured a young lady who had received the devastating news that she carried the genetic duplication responsible for Huntington’s Disease.  Huntington’s is a severe, progressive condition with symptoms commonly appearing in late thirties/early forties.  She was markedly younger than this and symptom free.  But knowledge of her future had a profound effect on her day to day life.  And how could it not?  Imagine the impact it would have on your relationship to know that one day your partner would become your carer.  She was dealing with her situation admirably and with immense strength.  But watching her speak opened up the question for me, ‘would I really want to know?

It’s one thing to seek an answer to an anomaly, particularly if it could aid treatment.  To try and diagnose a child.  But when you start pulling apart DNA to see what’s in there, you may not like what pokes it’s head out.  Let’s take a common one, dementia and a well known cause of dementia, Alzheimers. To my surprise when reading about this, there are now a number of genetic mutations that have been discovered which are thought to cause early and late onset Alzheimers.  They only account for some cases, but still….what a discovery.  I had no idea this had been found.

This then got me thinking.  Right now, my DNA, my husband’s DNA and my sons DNA are sat in a lab being examined.  If one of those mutations was found.  And we were told.  What would it mean for us? Practically, emotionally, even financially.  I want to say it would cause me to become informed, ready and empowered by knowledge.  But I’m a big fat liar.  I would be terrified. As a carer with immense responsibility for another person, the fear of becoming incapable haunts me already.  And whilst I may be getting a bit more zealous with the face cream these days, at thirty two years old, I am pretty young in the grand scheme of life.  Yet..with one piece of information I could spend every day worrying about something that could take fifty years to manifest.

As time and technology move forward, who knows what other conditions could be linked back to genetics or what further genes could be found. Sticking with dementia as an example, when you consider that one in three people over 65 develop dementia, then imagine full exome sequencing becoming more widely available, perhaps even privately available (as it is in some countries already).  Suddenly an ethical question becomes a full blown dilemma.  And I can see why hard and fast rules are being put in place now.

But the water becomes far muddier when you consider genetics and preventative action. There has been widespread media coverage around some of the genes linked to breast cancer, with some genes likely to lead to an 80% increased risk of developing breast or ovarian cancer.  This knowledge gives people the choice to opt for preventative surgery.  An incredibly hard choice, but a choice non the less.  Now if you imagine that a genetic mutation linked to a condition where preventative measures were possible was stumbled upon during full exome sequencing.  Well now this ethical pond is bordering on opaque.

Would I want to know about a preventable condition like this, no matter what steps I may need to take?  Absolutely. But then how do you define what falls in the category of 'preventable'?  What about potential future parents who are 'carriers' of genetic conditions?  You could argue that the conditions involved would be 'preventable', by not having children, or in some cases with IVF intervention (I think - that's a bit over my head on the science front to be honest).  But then what conditions are deemed serious enough for people to be told about?  Life limiting conditions?  All genetic conditions?  What message does that send about disability in our society? When does technology unwittingly become a catalyst for <whisper> eugenics?  But that’s just too enormous a debate, so I’m going to dip my toe in with that sentence and then run away fast before a big fish gives it a nip. 

All in all, I really don’t know where I stand on this issue.   Human nature demands, craves knowledge.  The thought of somebody else potentially having information about me that they won’t share just feels a bit mean.  However, curiosity doesn’t always end well (ask the cat).  And on this one I think, on balance, I need to push back against my instincts.  If there needs to be a blanket rule, then I think my opinion can only go one way.  Right now, somewhere, there is a vial of blood with my name on it, just waiting to be investigated.  A key to my present, and potentially my future. But for me, personally…I think the gene genie needs to lock away any ‘incidental’ findings in a big old room (I’m thinking like the final scene of ‘Raiders of the Lost Ark’ here.....there’s a TINY chance I think labs are more exciting than they are). No matter how much I think I may 'want' to know something, I have to accept that I may not be capable of knowing it and living the life that I want to.

My inner teenager will just need to calm down, stop foot stamping and accept that 'if' something else is found, they just don’t get to know.

It’s ok.  You’ll understand when you’re older.

Tuesday, 6 May 2014

Time to Stand Up and Speak Out!

I tend to have a touch of the Dollys about me first thing in the morning (without the fabulousness and with added sleep deprivation).  I tumble out of bed and stumble to the kitchen, pour myself a cup of ambition (well, a weak one), yawn and stretch and try to come to life.  Working nine to f….whenever I get interrupted.

You see, my working life has been complicated lately by the added presence of a small person.  In fact, he may be a record breaking small person, managing to get himself barred from an establishment at the tender age of two years and nine months.

It has now been five weeks since Little J was, for all practical purposes ‘excluded’ from his nursery.  Now no one would use that language to describe this event, but he is no longer allowed to attend so, well, you say ‘tomato’…

What did he do to achieve this feat?  Stealing playdough from the big kids? Running a gingerbread man protection racket?  Sneaking off for extra milk behind the bike shed?  No actually.  He was just ‘too’ disabled (I’ve confiscated his ciggies, but they still won’t have him back..)

Now whilst I jest about exclusion, I am not trying to apportion blame to the nursery.  Quite simply, he was in the wrong setting, with the wrong support in place - and that is a wider issue.  Even with a 1:1 and a Statement of Educational Need, apparently his needs are just too high and he now breeches the nursery’s insurance policy.  It does now look like we will be getting a place at a special needs setting (where he should have been from the start in my mind), but it has been a complex road to get there.  So now I have my social, gorgeous boy back at home, clambering over me and clinging onto my neck for a large portion of the day.  Which is lovely in many ways.  Except for one thing…..I am trying to cling onto a job.

I'm totally on it..
I already work a mere handful of hours per week due to a complete lack of childcare and now, it is only thanks to the immense patience and grace of my employers that I have a job at all.  Because I have no childcare, yet again. 

And what response has there been from statutory services? The services whose apathetic response to our initial efforts to get him into the right setting have led us here.  Surely they were rallying around, immediately calling meetings, desperately trying to ensure that I did not lose a second job due to lack of childcare?  Surely they recognised the message that I have been hammering home at every single meeting we have had. The one that tells them that helping me to work SAVES THEM MONEY!  No actually. 

I’m not saying people weren’t empathetic, but if I could sum up the content of most of the conversations I have had in the last few weeks it would look something like this ‘Oh, that’s a bit pants isn’t it? Well, yes something should be done I guess.  What’s that? practical solutions you say? Well, erm, probably best to just do some more waiting.’ <disclaimer: Not a direct transcript. The word pants was not used. Please don’t sue me.>

Why so little concern? Well, because it’s not really anyone’s job to help me have a job.  Despite all the headlines about removing people from the benefits system and getting them into work, parents of disabled children are not protected by any national law.  In fact, working parents are a distinct oddity.  Public sector professionals don’t really know what to do with me. They look all shifty and nervous when I start bombarding them with work related questions.  Because that wasn’t in the training.  They don’t know the answers.  Questions about the benefits system are a different matter. They are all trained up on that.  But working.  No, we don’t do that.

And why should they know what to say?  Because we are an oddity.  As a working mother to a disabled child I am one of the lucky few.

Currently only 16% of mothers of disabled children work at all, against 61% of all mothers. Oh, and let’s not forget the fact that 85% of mothers of disabled children want to work.  So, Mr Coalition (ok, that was a bit sexist – So, unknown gender person from the Coalition)…you want people off benefits, stimulating the economy..well HEEELLLOOOO.

Now, if you have read my blog before, you may be eye rolling right about now.  Actually, I probably lost you around the statistics and you are off having a cuppa and watching Location, Location, Location.  I know, I know.  We’ve been here before.  I’ve got all political and blogged on this one only a couple of months ago.   So why are we back here again?

Well, because something exciting is happening.  Firstly, I am feeling all campaigny and dusting off my metaphorical placard.  Because I have come to realise just how many other strong, dedicated and determined parents are in exactly the same boat as we are.   Shorty after I posted my open letter to Michael Gove, I became aware of more and more bloggers writing about the same thing.  Then even more posts began to appear.  The #WeWork hashtag started appearing on Twitter, the acronym WMODC (working mothers of disabled children) started being used.  Suddenly, we were a group, not lone voices.  You can see a round up of some of these great blog posts, hosted by the fantastic Premmeditations here.

The second reason that I am bristling with hope at the moment is the announcement that there will be a Parliamentary Inquiry into Childcare Provision for Disabled Children.  It will be led by Conservative MP Robert Buckland and Labour MP Pat Glass.  You can find more information about the inqury here.  And if you are a parent affected by these issues, there is a survey to fill out here.

This is our chance to speak up and be heard.  Our chance to bring about change.  So let’s make it count.  If you are affected by these issues than please get involved, fill out the survey.  Let’s make the most of this opportunity.  Let’s blog, tweet, perhaps even get all retro with a bit of letter writing.  Let’s make sure that the next generation of parents stepping into our already challenging shoes aren’t faced by the same frustration, financial fears and inequality.

And if you are not personally affected, they you can still show your support by sharing what is being said and raising awareness. If you are wondering if this really matters, let me hit you with one more statistic.  On average, it costs three times as much to raise a disabled child than a child with no disabilities.  I want you to imagine what that means for the average family.  Now imagine that half their income was wiped out overnight. 

And to those leading the inquiry, I ask just one thing.  At the end of my last post about working with a disabled child I asked that you hear us.  Now I ask for one step more.

Listen to us.