Valerie Foley

Posts Tagged ‘Medical’

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. 😉

What the hell are we doing?

In Action, Medical on October 29, 2013 at 12:55 pm

My child is really great. He’s one of those people that people respond to. He’s got a genuinely beautiful spirit.

I promise I’m not exaggerating about this. Ask anyone who has met him.

He’s been whacked by life’s medical wet fish way too many times. First with dodgily constructed ears, then with ‘autism’ and all it brings, then with Transverse Myeitis, then with gastro-intestinal issues and now with epilepsy.

We’ve avoided much medication in his life, which is handy because he reacts really badly to most of it. He had extreme vaccine reactions, he has vomited bile in response to every GI medication, his system flared wildly with every antibiotic. The most common response we get from doctors was, ‘I’ve never seen that before’ when we bring our kid back sicker after the medication.

He did have a really positive response to prednisone when he had Transverse Myelitis. It saved his life (so, quite positive) and also made his tiny 3 year old autistic body speak in full sentences for the first time ever. Sadly, it also (as predicted) blew out his liver and kidney function and so had to be weaned carefully.

Exactly a year ago, though, everything we knew changed.

Billy had what was described by his GP as a ‘mental breakdown’ (tics, OCD, anxiety) and which quickly became tonic clonic seizures.

After his first seizure, we watched and waited. After his second, we hoped we were just unlucky. When his third and fourth came in quick succession, paralyzed him down one side and made him vomit uncontrollably, we had to give in and medicate.

Since then, his body has been struggling.

The first drug, Epilim (or depakote, for the Americans) made him rapidly gain weight, lose control of his bladder intermittently, vomit in the early afternoon and develop OCD. Also, it didn’t stop the seizures.

The second, Keppra, stripped weight off him and brought on truly hateful psychosis. And it failed to stop the seizures too.

We are too frightened to try a third, so we are going backwards. First back to Epilim, and then, we will take tentative steps towards the Ketogenic Diet in some form.

Why am I telling you all of this?

I’m telling you this because every day, I pop pills out of packets and force my child to take them.

He takes them, because he’s a lovely and compliant child who doesn’t want to have seizures, but do you want to know what else he does?

Well, for some part of every day, he begs for us to ‘get his thoughts out of his head.’ He threatens to hurt himself, us or his dog. He screams a high pitched scream in response to the simplest challenge (the internet is frozen, Daddy is walking home instead of driving, dinner will be different tonight). He forces himself through self devised repetitive physical rituals to clear his mind and keep himself safe.

‘Meh, that’s autism’, you may be saying. ‘Lots of autistic kids do those things.’

Funny you should say that because his doctors try to say similar things.

But here’s the thing.

He did not, ever, do those things. Not before he was medicated.

And wah wah, poor us, get some perspective… whatever. But the reality is, the medication we are giving our child every day, the medication that his doctors insist is necessary to keep him safe, is sending him crazy.

He drops out of enjoyable activity to perform a set of tics and postures a hundred times a day. He is obsessed with all of us cleaning our hands. When his dog, who is his best friend, barks (which is rare, but it happens) he punches him so hard the dog yelps. These are all new and horrible behaviours.

And yet, we give him the medication.

We have plans to try to transition away, but those plans take time and medical supervision (and mega money and potentially almost total revision of our awesome whole food journey, but that’s a whole other post).

The point is, we give him the medication. People, we trust, with training we don’t have, tell us we must. And so we do. Despite the fact that it is taking him away from us every day, and worse, it is doing things to his body that make him hate himself. That can’t be ‘healthy’.

Seriously? Is there not something better than this?

I look around and I see so many of Billy’s peers, heavily heavily medicated. I see them with pale skin, dark eyes, way more or less weight that they should be carrying, restricted diets, school crises, failing energy, diminishing skills, failing bodies and maybe, if they are lucky some kind of an improvement in function. For many, there’s not even that.

And yet, we keep giving them the medication.


Well, we’re scared. In this house, we’re scared of seizures. In other houses, it’s that or fear of outbursts, suicidal thoughts, obsessions, violence, non-compliance, a lack of focus… all sorts of perfectly legit fears.

Balanced by another set of fears. That we are poisoning our kids. That we are doing harm instead of good. That something is very very very wrong with this picture. This is NOT what we were told would happen when the ‘a’ word was first uttered.

If you haven’t had to step into the world of medication, can I suggest you try like the blazes not to? Change your lifestyle, change your diet, change any possible thing you can before you get on the roundabout that has no off button.

It might work for a while, it might seem right, but we do not know the consequences long term. Take that gem of wisdom from those of us who see the consequences immediately and still have no choice but to keep medicating.

There are no reliable long term studies on so many medications that are routinely given to children. There are so many massive side effects that are chalked up to bad luck, mystery or collateral damage. Despite the assurances of lovely doctors who want solutions as much as we do, Billy’s medications have not proven to be either effective or safe. The drug responses the doctors raise a crinkled eyebrow about, are genuinely terrifying to us. More importantly, they are terrifying to Billy.

And yet, we have to give them to him.

If I have learned anything in the last 12 months, it’s that nothing… not one thing, is more important than health. Inside and out, from food to function, we should be keeping our child healthy. That should be our job as his parents. Yet, every day, we make it worse, not better.

This is not made any easier by the fact that in a societal sense, the health bar is incredibly low. As a (privileged) population, we’re generally eating poorly, choosing badly and living slowly. Add to that, a kid with a swag of diagnoses and a bunch of ‘mysterious’ reactions to everyday substances and expectations are even lower.

What the doctors call health (still breathing, not bleeding from an artery, walking independently, communicating effectively) is laudable, but it’s not what our kid was, and it is certainly not what we hope he could be.

He is stuck between a rock (his health) and a hard place (modern medicine).

The only way out seems to for us to throw around a LOT of money and hope some of it lands somewhere useful. We’re focusing on diet, we’re educating at home, we’re investigating gene function, we’re testing every fluid we can. We are finding out useful things, incrementally, but it’s incredibly slow, incredibly time consuming and incredibly expensive.

At the end of the day, on so many levels, we find ourselves wondering what the hell we are doing.

This should not be as good as it gets for children in 2013. It really really shouldn’t.

As a postscript, I want to share this family’s story about their journey to discover more about leukodystrophy – Mission Massimo.

I am at once floored, devastated and unbelievably inspired by their story. They articulate so clearly what so many parents I know feel. At its base, an incredulous sense that not knowing ‘why’ just can’t be good enough.

I am reminded that we live in a time when many autism parents are slandered, doubted and questioned because they do not accept their children should be mysteriously disabled. When you look at it like that, I find it hard to believe that anyone could not be yelling from the rooftops that someone has to do something.

We will do something. We will try, at the very least. And we will speak loudly to anyone who will listen as we do.

Actually we’ll speak loudly until people listen. If they don’t we have a substantial collection of wet fish with which to flog them into consciousness.

They’d tell me, right?

In Medical, Parent issues on June 28, 2013 at 2:07 pm

We spend a lot of time at the hospital.

Sometimes we’re chronic, and sometimes we’re critical. Today, we were curious.  We spent an hour with a truly charming neuro-immunologist having one of the most depressing conversations I may have ever had.

I was hoping to be wowed by doctor magic. I really need to stop believing in doctor magic.

Billy’s first diagnosis was PDD-NOS, then Transverse Myelitis. Then came the GI issues. Then the full ASD. Then the epilepsy. His energy is depleted. His motor skills are impaired. The world takes a toll on him.

We’ve had a neurologist for the longest time, and today we got to meet the next line of defence – the neuro-immunologist. We wanted to know if we should be standing by for any new diagnoses.We’re starting to feel pretty unlucky.

The doctor listened carefully to everything we had to say, sympathised with the dilemma of the autism parent in the medical system and told us he had no idea why Billy has so many suckful medical conditions.

He said can see there’s something, and he suspects it has something to do with his immune system (and less to do with his mitochondria or his metabolism). He says genetics need a good going over. But he was very clear that we are in the realm of real but currently unquantifiable, medically. At least in this country.

Now, why am I telling this story? Apart from giving my fingers something to do in between the disappointed wine drinking?

Well, it’s a rare day that goes by when another autism parent doesn’t say to me… ‘well, if the doctors were worried about something to do with my child’s health, they’d tell me.’

I’m here to tell you, people, they wouldn’t.

Why? Because they genuinely do not know.

I think some of them genuinely want to know, but the momentum is simply not there to find out more.

We are also seeing, that when individual doctors do learn, they think long and hard about sharing their knowledge, because it is the sort of information that will shake up the public health landscape around the world in a gigantic way. And it’s a rare doctor that is confident about doing that.

The information required is the sort of stuff that makes people need to change their lifestyles, make decisions that make them stick out from the crowd, protect their kids from ‘normal’ life. Normal people. Run of the mill, everyday folk, changing their lives to keep their kids functioning.

But it’s not just the doctors.  There’s also the issue that corporate (governmental) knowledge of autism is lagging years behind the lived experience. This wouldn’t necessarily be a problem, if autism was universally the quirky talks-too-much-about-Star-Wars thing that we are led to believe it is. It wouldn’t be a problem if the bureaucrats didn’t need to believe that autism needed no more than some EI and the odd social skills group.

They not only have to learn what autism really is, they need to be willing to change the entire system to accommodate this new reality. No wonder it’s not happening.

Sitting in the presence of skilled and sensitive doctors who say, ‘I can see what you see, and I don’t know what it is’ is my least favourite parental job. I don’t want to hear that the biggest children’s hospital in the country are flummoxed by my son’s health. I also don’t need to be placated by statements like, ‘But autism wise, he’s pretty good.’

I am not the only person I know in this oddly comfortable leaky boat.

My co-floaters have beautiful teens in profound mental health crisis, tweens with degenerative movement disorders, primary schoolers with mito and pre-schoolers in psych lockdown.

‘Boy, I’m glad that’s not us’, I hear you say, ‘my kid just has autism.’

My kid just had autism too. So did the teen and the tween and the primary schooler and the baby. Autism is no more than a word (and that’s from the mouth of the neuro-immunologist). It’s a name we give to a set of symptoms that are evidence of something not doing what it was built to do. And that something is what we really really need the doctors and bureaucrats to understand – the somethings that have become frighteningly common but are not normal.

And, don’t be afraid of the word ‘normal’ for heavens sake.

Normal to me, previous to this medical adventure, was not fearing for my child’s future. Normal was bringing up my son to achieve his goals and find inner peace.

Now, it’s the fervent wish we won’t wake up in a pool of urine, or don’t have to spend our sleeping hours ensuring our son is safe in the recovery position while seizing uncontrollably. It’s accepting that a good day has to include medication, and supplements and vigilance about food that would put a TV chef to shame.

It would be awesome if the doctors caught up, in all honesty. We could do with the back up. We are just keeping afloat here, and the flares we are sending up are seen but not understood.

We can’t sit back and think it will be OK. We can’t write ourselves out of this narrative. It is what it is.

I’d love to think that autism parents who don’t feel like they live in this leaky boat would find the space to stand up and fight for change. At the very least, I’d hope they wouldn’t fight against us.

Billy is our everything, and he is the most important thing ever, but on days like today, it (not him, it) is the opposite of fun. Literally, diametrically opposed to fun.

On days like today, I realise that love is quite literally the sea keeping this boat bobbing up and down. All the reading, all the studies, all the therapy… dissolves into nothing.

And we go back to scratch. Focus on Billy. On health. On happiness.

So, yeah… Today I learned, that unless you ask, they won’t tell you anything.

And if you do ask, you might come away wanting.

We have a long, long, long way to go.

Brain connectivity and autism

In Medical, Research on April 23, 2013 at 9:18 am

Brain connectivity and autism

Click the link above to descend into the world of competing theories about brain connectivity and its relationship to autism.

It pains me to say that a page like this does for me what a couple of hours reading Perez Hilton used to do.

I am entirely unsure whether that’s a positive change or not.

We have to tell these stories…

In Action, Medical on March 9, 2013 at 5:00 am

We have to tell these stories…

This story, unfolding in the USA as I type, is horrific.

In short, a young man with severe autism is being denied appropriate (hell, any) medical care while being held in restraints. For his own safety, one can only assume, though the restraint injuries on his body (among many other abuses) tell a different story.

While the autism community, internationally, has rightly leapt to the support of this family, it’s important to remember that what’s going on there goes on, to varying degrees, everywhere. All the time.

How many of us have been told ‘it’s just autism’? How many of us have stared into the face of a doctor who has absolutely nothing to offer our children? How many of us have bowed to institutional medical pressure, despite every one of our instincts screaming, ‘This is not right’?

If the medical fraternity is happy to stand by and make ‘I don’t know’ faces in the wake of accelerating ASD diagnosis rates, then they should probably consider stepping up and working out how and when to treat autistic folk. If they are struggling now, they’re going to lie down and weep in five years or so.

The more we tell these stories, the less acceptable they will become. The more we tell these stories, the less they will happen.

End of story.

We Will All Pay For This

In Action, Medical on January 26, 2013 at 1:14 am

We Will All Pay For This

This is important to read.

No one opened our eyes to the possibility of a future as full of medical crisis as it is. No-one told us it would happen in various guises to many many of our friends.

It’s important to open your eyes. Having them wedged open with toothpicks is nowhere near as natural.