Valerie Foley

Posts Tagged ‘Genetics’

I listen to the radio…

In Medical, Parent issues, Perceptions, Research on February 19, 2014 at 8:10 am

I’m a big fan of public radio. I have been for as long as I have had control of a radio dial. I was the nerdy teenager who fell asleep to Phillip Adams and not Duran Duran.

Now I’m middle aged and I sit in the millieu comfortably in so many ways. Except for one.

I have a child with chronic medical conditions and lifelong diasabilities. The letters after his name include ASD (autism spectrum disorder), TM (transverse myelitis), JFLE (Juvenile Frontal Lobe Epilepsy), CTD (connective tissue disorder) and GI (gastro-intestinal) issues. He has hyperacusis, cochlear dehisence and immune-defficiency. He also has a wicked sense of humour, astonishingly beautiful eyes and a heart of gold.

When I listen to the radio some days, I find myself muttering like Dick Dastardly.  As I supervise my son’s education, cook his customised food and clear up his discarded trains, I yell at my beloved radio without realising. I’m reacting to the fact that so much of what we are presented through the media is delivered with little acknowledgement that there is difference in the world – different abilities, different lifestyles, different journeys through life. There’s the odd mention of LGBT issues, occasional disability stories but, for the most part, the underlying broadcast assumption is that you (the consumer) are on the road more traveled.

Mostly, after my outbursts, I say to myself ‘Get over yourself. They have to cater for the majority. They can’t cover everything and everyone.’ But today, the radio was talking about something that was meaningful to us. They were talking about personalised medicine – genetic testing and its consequences.

So I called in, I spoke to Richard Glover‘s producer and I waited my turn. Alas, time ran out, but if I had been able to speak, here’s what I would have said.

“My son is a cracker of a kid. He works harder than anyone I know to take the developmental steps that all his same aged peers take for granted. He sees himself as the epitome of 10 year old boy-ness, which is exactly how he should feel.

Every night, however, he falls asleep not knowing if his deepest sleep will be interrupted by violent seizures. He doesn’t know if he will wake in an ambulance or in his own bed. He is tormented by a dog barking two blocks over, his body wracked by the simplest sounds. He shakes violently when he tries to write, both because of a profound motor skill deficit and the medication he must take to attempt to gain control over the epilepsy. He can’t eat the majority of things a child wants to eat, simply because his bodily functions shut down if he does. He adores his friends and yet struggles to keep them, if they are neurotypical, because most kids live in a world where thinking fast is valued over thinking fairly.

Each of his diagnoses came evenly spaced over his life and each as a surprise. The doctors use the phrase ‘struck by lightening’, each time. As though he, they and we are powerless to predict anything about his health.

Don’t get me wrong, his doctors are brilliant people – neurologists, gastroenterologists, immunologists and one of the best paediatricians on planet Earth. And yet, they are at a loss to circumvent another strike.

Until now.

Now, have begun genetic testing. It’s NOT the be all and end all. It’s not a magic bullet. It’s not even a totally workable solution – yet. But it is the first time in this life that we have a sense that we are in control of the weather.

We know practical things like why our son can’t tolerate certain medications and why his Vitamin D levels are so dangerously low no matter what we do. We can fix those easily now. This helps his everyday health, as well as protecting his future wellbeing.

We are discovering theoretical things like which parts of his brain are genetically likely to be strong and which are not. This stops us from chasing rainbows and sends us on more practical paths of intervention.

And most of all, we are discovering that we have responsibility for his health – both in a personal sense and in a big picture sense. It’s not written in stone, by any stretch of the imagination, but it is a code that can help us better understand where we have come from and where we can go safely.

The results may well be confronting at times. But they are no where near as confronting as discovering him frothing in his bed at 1am. The predictions may be a little terrifying, but no where near as terrifying as not knowing why your perfect baby has grown to gather medical diagnoses like other children gather Lego kits.

We know the world he lives in in increasingly toxic. We know we have made well meaning decisions that were not the best for him. We need to know how to protect him so he has even a fighting chance of survival when we are not around. We need to know how to prevent more children having the same range of supposedly un-aviodable challenges he does.

I know if you are not us, it is tough to understand why we are so desperate for reliable answers and guidance. Kids should be kids, and not be burdened by the negative potentials in their future, right?

That is abundantly and beautifully true, if your kid isn’t already burdened by the mysterious ‘lightening strikes’ of disability and chronic disease. Even more true if solutions to their problems can be found in their own intestinal fortitude and not, as my son’s are, by searching endlessly for a ‘needle in a haystack’.

When you are looking proudly at the back of the head of your grown up offspring as they head off on their gap year or through the front door of their very first share house, it’s probably irrelevant that people like us will never have that opportunity.

I say this not to gain pity. We so don’t need that.

I say it to open peoples’ eyes to the fact that we are not all the same. We don’t all treat difference as something to fear. We don’t all experience normality as the norm.

We did not all get the choice to avoid the road less traveled.

Genetic testing and the emergence of personalised medicine doesn’t just help my kid. It helps us all. Small picture, we hopefully start to understand what the future holds for our boy. Big picture, we all start to understand what we can do for ourselves, our kids, our grandchildrens’ grandchildren. If we are lucky enough to have them.

So, if you eschew the genetic testing, fair enough. That is absolutely your choice.

But as you sip that glass of red while wondering if you are becoming drunk Uncle Bob, or stare at a diabolical sudoku and fear you have met your demented destiny… spare a thought for those of us who truly need the testing and for the world to have an open mind about it.

Spare a thought for my son, who tonight will be dodging lightening in his dreams.

And thanks for taking my call and listening. It means a lot.”

They totally would have let me talk that long on talk back radio too. 😉

Why is it so…?

In Medical, Research on November 16, 2013 at 5:03 am

We are faced with a variety of challenges in our lives with autism.

The ones officially known as autism (communication, behaviour, interests, social skills), are the least of them. The bigger challenges, for us, are medical, though they are often conveniently re-sized by being placed under the carpet we call ‘autism’.

It won’t surprise anyone that as the parents of a child who is struggling, obviously, with everyday life, we want to seek help for him. What may surprise anyone a few years behind us on this journey is how freaking hard it is to get the help you need, and how even freaking harder it is to get the help that actually helps.

In the words of Julius Sumner Miller, I find myself asking, ‘Why is this so?’

Short diversion. I love science. As a kid I was thrilled by the egg in the bottle. I lived for The Curiosity Show. I was driven by the idea that there were answers to the things that vexed me, I just needed to think the right way to find them. I have zero systematic thinking skills, and the memory of a very specifically trained butterfly, so a life in science was never going to be mine. But the big picture gave me comfort, and a certain self righteous drive around ‘the truth’. I took those and channeled them into a life of letters.

Back to why getting care for an autistic child is so challenging.

I’m fairly sure that it’s not that Billy’s doctors are lazy good for nothings who are more interested in their golf score than him. In this respect, perhaps we’ve been fortunate.

I’m also fairly sure it’s not because there’s an agenda discussed over the doctor lunch table about shutting the nagging autism mothers down. Again, maybe that’s just because we’re not sophisticated enough in Australia yet, for this to be a policy driver. I’m certain there are many of us the doctors don’t relish seeing.

I’m fairly certain it’s simpler than either of those things.

The mainstream doctors we see, as good as they are, and as at the top of their game as they claim to be, really don’t know what to do. They don’t know what to do for one solid reason. They do not know what autism is. Officially, no cause, no treatment, no cure.

Conveniently, if they care to look outside of their field to the seething mass of service providers set up to placate desperate families, they will learn that autism doesn’t require a cure as it’s not a disorder, or a disease, but a manageable variant of normal that should be accepted and even encouraged by actively NOT treating it medically. Because it’s not a disorder or a disease.

Rinse. Repeat. Go play another round of golf.

While you are there, talk to the Health Minister and see how well he or she has effectively swallowed this framework. It is waaaaaay easier to manage this systemically than address why 2% of your paediatric population are mysteriously and increasingly disabled. So… back to building buildings, keeping trains running on time and such.

Which is fine (I guess) if you are happy for children to be sick without cause and resistant to conventional treatment.

I’m not so fine with that. Not theoretically, and definitely not personally, it being something that directly involves my kid.

So, where are we?

Back with the wire haired professor, (seriously, he’s fabulous, indulge yourself)… why is this so?

This year, faced with intractable epilepsy on top of the GI issues, auto-immune disease and crippling sensory issues, we have made a couple of big decisions. Actually, it may have been expedited by the severe physical and emotional side effects of the epilepsy medication. Or the fact that after YEARS of being told by reputable gastroenterologists that our son (who couldn’t tolerate gluten without losing control of a very important set of sphincters) had nothing resembling a coeliac profile in his bloodwork and so shouldn’t be scoped, we discover that he has the genetic haplotype for coeliac disease (like the multiple coeliacs among my first degree relatives).

Decision 1
Do proper, as much as can be accommodated by current technology, science and finances, genetic testing on Billy.
This has manifested in three separate approaches, which is, I will admit a little over the top, but I’m figuring they can act as their own validity checkers (which will make me feel better while we are eating baked beans cold from cans as a financial result of my actions).

The first is 23andme. A rash decision I made when I had a spare $300. I’m waiting for the results and thinking they will be like an intellectual bone to gnaw on in my down time. Actually I will need a scientifically minded friend with co-occurring down time.

The second is a random letter from our state health service asking if we want Billy included in something called a Genetic Gold Service in 2014. ‘Sure’, we said, at the vague promise of a publicly funded Dr House style program that looks closely at the kids they have met that clearly have something going on, but they don’t know what.

The third is a broad based study of the genetic profiles of children with existing autism diagnoses. More about that as time progresses.

It’s early days in this game, and we have absolutely no idea what we are going to learn.

But we know one thing for sure – we are going to learn something.

Because, here’s the thing.

In traditional medical practice, treatment is pretty much trial and error. Let’s try this medication, and if it doesn’t work, or there is a bad reaction, we’ll try this other one. If you are in robust general health, I guess this isn’t an entirely harmful way to proceed. If you are Billy, and countless kids like him, it’s downright terrifying.

On the most easily understood level, his reaction to epilepsy medication is testament to this. The doctors go, ‘Wow, we haven’t seen that before’, and we take a child home with (a) no viable treatment plan and (b) potentially irreversible side effects and a bonus (c) NFI why or what to do next.

So, just like the coeliac genetic test shows us that symptoms plus atypical bloods plus haplotype means ‘don’t eat gluten’, discovering more about Billy’s make up might just help us understand how other foods and medications/chemicals/supplements may interact with his system.

At least, that’s the logic.

And after all he’s been through, we simply cannot afford to ignore that logic anymore.

I see the cynicism around genetic tests and autism. I respect some of it because some of it is coming from people I truly respect.

I understand ‘it’s genetic’ is a get out clause for the medical profession. To be honest, I think it’s a ridiculous statement. What does it even mean, practically? A long history of no-one with autism, and a few people with mental health issues. Then a generation full of autism. Yeah, clearly, it’s genetic. Cos in the past, some of my family got a little bit of cancer and then in this generation they got lots of it. Not.

If the genetic traits that lead to autism are in my family, given three of my mother’s grandchildren are diagnosed currently, then surely it behooves all of us to find out what the hell those markers are. If I has known there was a strong genetic potential for me to give birth to a child with a lifelong debilitating disability, I would have thought very very seriously about proceeding with the process of procreation. What the outcome of that thought process would be is my business alone, but I would have appreciated the heads up. For absolutely sure.

Moreover, if my child, in utero or as soon as he was born was showing recognizable, medically respected genetic markers for the medical conditions that are the basis for the thing his doctors call ‘autism’, then I could have made very very very different choices about his lifestyle – BEFORE those choices had the impact they did. I’m talking about my diet, his diet, chemical exposures, vaccines, stress factors etc etc etc.

Finally, it’s a simple matter to test us as parents and ascertain what’s ‘genetic’ and what’s ‘epigenetic’, and that’s where the interesting stuff can start being talked about.

I have no time for the eugenics arguments, because I hold absolutely zero concerns about such things. Despite being resolutely pro-choice, I see absolutely no evidence of a worldwide conspiracy to rid the world of any type of person pre-birth, let alone autistic people. I see people making choices, with their own free will. If I see anything dodgy from underneath my tinfoil hat, it’s the opposite of eugenics. The lack of attention to autism prevention makes a mighty profitable future for the medical industry and the grotesque autism industry that has grown up around selling false promise therapies and services to vulnerable families.

The key for us is that every single thing we put into our child’s body has some kind of unexpected effect. And we are done experimenting with that process.

We’re looking for reliable solutions for our child.

Decision 2
We have started an official journey with a integrative medical practitioner, to join with all the allopathic medical practitioner relationships we have now. This is the reliability part of the exercise. I’m not keen on experimenting with my son, or with our life. We want to know what’s going on, we want to know why, and we want to know what we can do about it. We want measures and data and evidence.We want reasons, not promises. We want strategies, not risks. Where ever those things are technologically possible.

We have been watching Breaking Bad like it’s a documentary in the hope of paying for all of this. Because the painful irony is that this will bankrupt us. Plain and simple. Unless we win the lottery or a leprechaun leads us to the end of his rainbow.

There has to be a why.

Nothing like what we are seeing right now, with regard to the acceleration autism diagnosis, and in particular what is obviously medically concerning in autistic people, happens in a vacuum. We take responsibility for the increase in diabetes. We see our part in the rise in heart disease. Yet we are encouraged to write off autism as a diagnostic or statistical anomaly.

The egg in the bottle. The liquid into the chalk. And just so you know I don’t base all my thought processes on products flogged on ancient Australian TV… the man in a box trick.

There is always a why.

We just have to know how to look for it. And right now, the beginnings of accessible knowledge in genetic screening seems as good a place as any for us to start looking anew. ‘We don’t know’, is not a good enough answer. There is no way we will stop looking, while we have eyes and the odd un-engaged brain cell.

Which probably means we should lay off the chocolate and fluoride products.

Thanks Professor Sumner Miller, the dude with just a moustache and the dude with just a beard, and Mrs Marsh. See what you’ve done?

All these canaries are so lovely…

In Environment, Medical, Perceptions, Research on August 1, 2013 at 5:41 am

Today we spent the morning with a geneticist at a major children’s hospital.

She was lovely, especially to Billy. She asked a lot of questions, wrote a lot of stuff down, listened very carefully, took a lot of photos and measurements and was intensely respectful.

She noted his hypermobility, his dysmorphic features, his medical diagnoses and reactions to medications and interventions. She heard it all, saw it all, acknowledged it all, even restrained herself from slagging off our dietary/lifestyle interventions.

All good.

The wrap up?

There’s no doubt in the world Billy is different from a typically developing child of his age. There’s no doubt he’s different to other kids with autism too. There’s no chance in 2013 that we can understand why.

She suggested a pencil grip (yeah, really), some core strength building activity (because seven years of OT has clearly been intensely useful) and a sense of gratitude that he’s not worse.

I made a few attempts to get her to understand that ‘hooray, he can talk’ isn’t going to help him get a job when he’s 18. I tried to light a little ‘this really isn’t right’ fire under her. She took it with more grace than most stethoscope wielders.

Does the last two hours mean anything? Change anything? Help anything?

Nope.

Don’t get me I’m exceptionally thrilled that there’s no obvious genetic syndrome screaming out for attention. I’m very grateful for that fact. It was unlikely that his ‘autism’ had a genetic cause, though the addition of hypermobility, auto-immune disease, GI issues and epilepsy makes a genetic cause slightly more likely. Hence the box ticking appointment.

The question remains, if we rule out genetics, WTF is going on? Chance? Bad luck? Or some deliberate choices we and others made on his behalf that kicked this game of Mousetrap into action?

The blank wall of ‘we don’t know’ is a way too familiar medical view in our lives.

We’re running out of ‘WEs’ to talk to, and there are two reasons why that’s both depressing and frightening.

The first is that the list of ailments in our kid grows, not shrinks, with time.
From hyperacusis, to hypermobility to GI issues to transverse myelitis to epilepsy. No-one medical knows why (bar the fact that some people who share an ‘autism’ dx have some of these things). No-one medical has non-pharmaceutical treatments or treatments that actually heal (rather than mask). No-one knows if anything else is coming. And yet, the impairment in him increases, against all spin- sorry, ‘odds’. The gap between him and his peers widens, and we see clearly he is not alone.

The second is that we live in a medical and political world that has been convinced autism is not a medical condition, with associated causations and solutions.
They have chosen to work on the notion that autism is either (a) severe or (b) magically overcomeable with behavioural training. The wave of autistic kids born in the 2000s kids are heading for adolescence and it’s not gone. The way smaller cohort of 90s births are aging out of school and guess what? It’s not gone. The later in life diagnoses, who managed to get through things that most kids with autism now have no chance of getting through are happily telling us all we should accept autism and leave our kids be. Which would be awesome, if leaving my kid be wouldn’t result in him walking in front of a car, ceasing all defecating activity and wondering what the hell happened to all the food.

Billy is currently a child with a serious disability. On paper, he is nothing of the kind.
‘High-functioning’ autism is not highly rated in the world of disability. He can talk. He is mobile. He has a level of emotional regulation. He’s not violent to himself or others.

He’ll grow up, dodging what ever medical conditions may be ‘lurking in there waiting to come out’ (the words of his neurologist), into a world that thinks he’s just fine thanks very much. He does not qualify for support, he does not have ‘high needs’, he’s just ‘different, not less’.

While we have a medical fraternity that thinks it’s OK to say ‘we don’t know why’, we have politicians who say ‘we don’t need to know why’ and we have a world that says ‘we don’t care why’.

It won’t (I fervently hope) surprise anyone that when it is your child this is happening to, you do not think it’s good enough.

He’s not bleeding from an artery. He doesn’t have cancer. He’s not strapped to a chair. We are incredibly fortunate we do not have to deal with these things currently, as many families do.

What he is, though, is one of almost 3% of our current child population in Australia (and climbing, and it’s no different anywhere else).

What he is, is mysteriously disabled (unlikely genetic, possibly environmentally, possibly preventably, possibly treatably).

What he is, is the canary in the coalmine.

And I adore the canary.

The coalmine… not so much.

The ones who dug the coalmine…? Who manage the coalmine…? Who spin shit about the state of the coalmine…?

They’re the ones I’d like ten minutes with.

They’re the ones who have a responsibility to care about the ‘why’, before there are so many canaries flapping their pretty feathers in their faces,  they’ll have no choice.