Our Journey with Smith-Magenis Syndrome: Life with Ben

There are some things in life that divide time into a before and an after.

For our family, one of those things was hearing the words Smith-Magenis syndrome.

Not because Benjamin suddenly changed when he was diagnosed. He was exactly the same Ben before somebody gave us those words as he was afterwards. But suddenly, so many things that had seemed disconnected began to make sense.

The sleep.

The communication difficulties.

The behaviours.

The sensory needs.

The developmental differences.

The things that didn’t quite fit neatly into the explanations we’d previously been given.

There was finally something connecting the dots.

And in some ways, getting that diagnosis was a relief.

In others, it was the beginning of discovering just how complicated life with a rare genetic condition can be.

If we’re honest though, part of me died that day.

Before Smith-Magenis had a name

Like many families of children with rare conditions, our journey didn’t begin with Smith-Magenis syndrome.

It began with Ben.

Ben is non-verbal and has significant additional needs. Over the years we’ve become very familiar with assessments, appointments, referrals, education plans and the strange parallel universe of acronyms that you enter when you have a disabled child.

You gradually become an expert in your own child while simultaneously spending an extraordinary amount of time explaining that child to professionals.

And for a long time, we had pieces of the puzzle without necessarily having the picture on the box.

We knew Ben developed differently.

We knew communication was difficult for him.

We knew his sensory world was different.

We knew some behaviours could be challenging.

And we definitely knew that sleep was a problem.

But knowing that something is happening and understanding why it is happening are two very different things.

Eventually, following genetics investigations, we met Dr Ruth Armstrong and received the diagnosis of Smith-Magenis syndrome.

And suddenly we had a new acronym to learn:

SMS.

So, what is Smith-Magenis syndrome?

Smith-Magenis syndrome is a rare genetic condition which involves either a deletion or a mutation of Chromosome 17.

It can affect development, learning, communication, behaviour and physical health. One of its particularly distinctive features is an abnormal sleep-wake cycle.

That last sentence sounds remarkably innocuous when you write it down.

“An abnormal sleep-wake cycle.”

It sounds like somebody who occasionally wakes up at 3am.

Living with it can be something else entirely.

Sleep has probably been one of the most relentless aspects of SMS for our family.

Ben can fall asleep perfectly well.

In fact, that’s rarely the problem.

He might go to sleep at around 7pm and you could be forgiven for thinking everything is going brilliantly.

Then he wakes.

Sometimes around 11pm or midnight.

And then he can be awake for hours. And hours.

Not lying quietly in bed awake.

Awake.

Sometimes laughing and excited. Sometimes repeatedly getting out of bed. Sometimes seeking food, drink or an iPad. Sometimes banging his head against his mattress. Sometimes turning the whole thing into what he clearly regards as a rather entertaining game of escaping and being returned to bed.

Three o’clock comes.

Then four.

He might eventually fall asleep again for another hour.

And then the day starts.

Sleep deprivation changes everything

It’s difficult to explain prolonged sleep deprivation to somebody who hasn’t experienced it.

Everyone has had a bad night’s sleep.

This isn’t really the same thing.

When you are repeatedly awake for several hours every night, night after night, it affects absolutely everything else.

There have been periods where I’ve existed on an absurdly small amount of sleep across an entire week.

You still have to function the following morning.

There is still school.

There are still appointments.

There is still work.

There is also our older son Thomas.

There is still cleaning, vacuuming, cooking, shopping and all the completely ordinary things that don’t disappear because you’ve spent half the night awake.

And then there’s the cruel irony of SMS sleep.

After being awake for hours during the night, Ben can come home from school absolutely exhausted.

He’ll immediately try to sleep.

Which is completely understandable.

Except you’re then desperately trying to keep him awake because allowing him to sleep for hours in the afternoon is unlikely to improve that night’s sleep.

You find yourself doing something that feels completely counterintuitive: trying to prevent an exhausted child from sleeping.

That’s SMS.

Night-time became a safety problem

As Ben has grown and become more capable, the sleep problem has also evolved into something else.

Safety.

For years we used a safety gate across his bedroom doorway.

It wasn’t about imprisoning him in his bedroom. His bedroom door could remain open, we could hear him and check on him, but the gate provided a boundary.

Then Ben learned to climb over it.

So we got a taller gate.

Then he learned to kick that out.

So we repositioned it.

Then he learned how the mechanism worked.

Then we added another mechanism.

Then a bike lock.

Then he worked out that he could open the gate as far as the lock allowed and attempt to squeeze through the gap.

Then he discovered he could loosen the pressure mechanism holding the gate in place.

At some point you have to admire the engineering determination.

Unfortunately, at three o’clock in the morning, admiration isn’t necessarily the first emotion that springs to mind.

The problem is that once Ben can roam around the house unsupervised at night, the risks become very real.

Bathrooms.

Hot water.

The kitchen.

Food.

Appliances.

Climbing.

Doors.

Things that are completely mundane during the daytime become hazards when a child who doesn’t understand danger is exploring the house while everyone else is asleep.

We lock what we can.

We block access where we can.

We improvise.

We adapt.

And, like many parents of children with additional needs, we become amateur risk assessors.

“Speak to somebody else”

One of the things I wasn’t prepared for was how difficult getting help could be.

You assume there must be a system.

And technically there is.

The problem is finding the correct door into it.

We’ve spoken to medical professionals.

We’ve spoken to SEND services.

We’ve spoken to the local authority.

We’ve asked about Occupational Therapy.

We’ve contacted sleep services.

We’ve been told one service can’t help and to contact another.

Then another service tells us it isn’t their remit.

Then somebody suggests going back to somebody we’ve already spoken to.

At one stage we were advised that NHS Occupational Therapy couldn’t help with home adaptations and that we needed to contact the local authority.

So we did.

And began another chain of conversations.

This is one of the hidden workloads of having a disabled child.

Administration.

You aren’t simply caring for your child.

You’re managing a case.

You’re emailing.

Chasing referrals.

Completing forms.

Repeating medical histories.

Explaining needs.

Researching equipment.

Reading policies.

Finding funding.

Working out which department owns which problem.

And quite often discovering that apparently nobody owns the particular problem you’re trying to solve.

The strange reality of “support”

We’ve had similar experiences with respite and Short Breaks.

On paper, receiving Short Breaks support sounds fantastic.

And it absolutely can be.

But support only works when it matches the reality of the family receiving it.

We were awarded credits.

The problem was finding something useful to actually spend them on.

Some activities required a parent to remain there.

But if the purpose is respite, having to attend the activity yourself rather defeats the object.

Information about providers wasn’t always particularly clear either.

And by the time everything was organised around school holidays and availability, the window for actually using the support could become ridiculously small.

Eventually you realise that there can be a considerable difference between being entitled to support and receiving support that actually helps.

Those are not the same thing.

Communication without speech

Another huge part of our journey has been communication.

Ben doesn’t speak.

But not speaking is not the same thing as having nothing to say.

That distinction is incredibly important.

One of the things we’ve worked on is giving Ben better ways of expressing himself through visual communication.

We’ve built core communication boards and PECS-style tiles around his actual life.

Not somebody else’s idea of what a child ought to want to communicate about.

His food.

His books.

His television programmes.

Places he goes.

People he knows.

Activities he enjoys.

Things he needs.

Things he wants.

Simple concepts such as:

Want.

More.

Stop.

Finished.

Help.

Open.

Then more specific choices.

Food.

Drink.

Books.

Music.

Swimming.

The hot tub.

Television.

Going outside.

And countless other things that make up Ben’s world.

We keep the core boards together in a ring binder and have additional symbols that can be added as his interests change.

Because communication shouldn’t be static.

His world changes.

His vocabulary needs to change with it.

Eventually, I hope Ben will have access to an iPad-based AAC system that can give him an even richer communication vocabulary.

But we’ve learned something important along the way.

Communication isn’t about making Ben communicate in the way that’s most convenient for everybody else.

It’s about giving him a way to be understood.

Learning to see behaviour differently

SMS also changes the way you think about behaviour.

It’s very easy to describe a child as “naughty”, “difficult” or “challenging”.

Those labels don’t tell you very much.

Behaviour is often communication.

Sometimes Ben is frustrated.

Sometimes he’s overwhelmed.

Sometimes he’s seeking sensory input.

Sometimes he’s exhausted.

Sometimes he’s trying to communicate something that we haven’t understood.

And sometimes, frankly, he’s doing something because he finds it absolutely hilarious.

He’s still a child.

Having Smith-Magenis syndrome doesn’t mean every single thing he does needs to be pathologised.

There are also behaviours associated with SMS that can be genuinely difficult to manage.

Head banging is one.

Sleep-related behaviour is another.

And when you’re dealing with something at 2am after several consecutive nights of broken sleep, there’s a world of difference between understanding intellectually why something is happening and having the emotional resources to deal with it perfectly.

We don’t always get it right.

Nobody does.

School has been enormously important

Finding the right educational environment for a child like Ben matters enormously.

Ben attends specialist school and has an EHCP.

For children with complex communication, sensory and learning needs, education isn’t simply about conventional academic attainment.

Communication is learning.

Independence is learning.

Emotional regulation is learning.

Social interaction is learning.

Being able to make a choice is learning.

Being able to say “no” or “stop” is learning.

Being able to tell somebody you’re hungry, tired, uncomfortable or frightened is learning.

Those things can fundamentally change someone’s quality of life.

Progress can look very different when your child has additional needs.

And you learn to celebrate things that might seem tiny to somebody else because you know how much work sits behind them.

The diagnosis answered questions, but created new ones

Getting the SMS diagnosis gave us an explanation.

It didn’t give us an instruction manual.

In some ways it actually generated more questions.

What should we expect as Ben gets older?

How will his sleep develop?

How independent will he eventually be?

What communication system will work best?

What adaptations will we need at home?

What happens as he becomes physically bigger and stronger?

What support exists?

Who provides it?

And perhaps the question sitting behind all of those:

What does Ben’s adult life look like?

Nobody can answer that with certainty.

And I’ve learned not to spend too much time trying to predict it.

We deal with the Ben who exists today.

Ultimately…he’ll be with us until we die.

The worst thing of course being: what happens when we die?

The emotional contradiction of parenting a disabled child

There is something I think people are sometimes uncomfortable acknowledging.

You can adore your child and find caring for them incredibly difficult.

Both things can be true simultaneously.

Saying you’re exhausted doesn’t mean you love your child less.

Asking for respite doesn’t mean you don’t want to spend time with them.

Wanting somebody else to take responsibility for a few hours doesn’t make you a bad parent.

Wanting your child to sleep isn’t selfish.

Wanting a safe bedroom isn’t restrictive.

Wanting support isn’t giving up.

It’s recognising that families are human.

The expectation that parents of disabled children should simply absorb unlimited additional caring responsibility indefinitely is unrealistic.

Love is enormous.

Human energy isn’t.

Ben is still Ben

This is probably the most important thing I’ve learned.

Smith-Magenis syndrome explains a great deal about Benjamin.

It doesn’t define him.

He’s funny.

He’s determined.

He’s incredibly resourceful.

He’s curious.

He has very definite opinions.

He knows exactly what he likes.

And when he wants something badly enough, his ability to solve whatever obstacle we’ve placed between him and his objective can be genuinely impressive.

Occasionally terrifying.

But impressive.

He loves his books and familiar things. He enjoys television and music. He loves water and the hot tub. He has favourite foods, favourite activities and favourite people.

He has preferences.

He makes choices.

He has a personality.

He just doesn’t communicate all of that through spoken words.

And perhaps that’s one of the biggest lessons Ben has taught us.

Speech and communication are not the same thing.

You just have to learn how to listen differently.

I always hark back to “The Famous Formula” outlined here: https://online.utpb.edu/about-us/articles/communication/how-much-of-communication-is-nonverbal/

• 55% body language: Facial expressions, posture, and physical movements.
• 38% tone of voice: Vocal pitch, volume, and speed.
• 7% spoken words: The literal vocabulary used.

It’s very true of Ben as he can be exceptionally good at telling you what he wants without saying it…!

Where we are now

We’re still learning.

We’re still trying to solve the sleep problem.

We’re still trying to make the house safer.

We’re still pursuing the right Occupational Therapy input.

We’re still talking to services.

We’re still working on communication.

We’re still adding new symbols to Ben’s communication boards as his world expands.

We’re still figuring out what meaningful respite looks like for our family.

And we’re still discovering what Smith-Magenis syndrome means for Ben.

There probably won’t ever be a point where we can say we’ve solved it.

Because Ben will change.

His needs will change.

Our family will change.

And the support he requires will change with him.

What I wish I’d known

I wish somebody had told us earlier that getting a diagnosis wouldn’t automatically connect all the services together.

I wish support systems were designed around families rather than organisational boundaries.

I wish parents didn’t have to become experts in health, education, social care, benefits, equipment and local-authority processes simply to access things their children need.

I wish respite actually meant respite.

I wish rare conditions weren’t quite so dependent on parents becoming researchers themselves.

And I desperately wish there were a magic solution for SMS sleep.

There isn’t.

But I also wish I’d understood something else earlier.

You become remarkably good at adapting.

You solve today’s problem.

Then Ben works out how to defeat your solution.

So you solve it again.

Sometimes literally.

Our Smith-Magenis journey isn’t a tragedy

I don’t want to finish this by pretending everything is wonderful.

It isn’t.

There are nights when SMS is brutal.

There are moments when navigating services is infuriating.

There are worries about the future that parents of typically developing children probably never have to consider.

There is exhaustion.

There is frustration.

There is bureaucracy.

There are times when we genuinely don’t know what to do next.

But I don’t consider Ben’s life tragic.

Not remotely.

The difficult thing isn’t that Benjamin exists as he is.

The difficult things are the barriers around him.

Being unable to communicate something and not having the right communication support.

Being awake all night and not having effective sleep support.

Needing a safe environment and discovering nobody seems quite sure whose responsibility it is to help provide it.

Needing respite and finding that the available version isn’t actually respite.

Those are problems we can and should try to solve.

Ben doesn’t need to become somebody else.

He needs a world capable of meeting him where he is.

And perhaps that is what our journey with Smith-Magenis syndrome has really been about.

Not learning how to change Ben.

Learning how to understand him.

Learning how to communicate with him.

Learning how to advocate for him.

Learning which battles matter.

Learning to celebrate progress on his terms rather than anybody else’s.

And accepting that sometimes parenting Ben means finding yourself at three o’clock in the morning, standing beside yet another supposedly childproof piece of equipment that he has comprehensively defeated, wondering whether to scream, cry or simply admire the ingenuity.

Usually, eventually, you laugh.

Because tomorrow we’ll come up with another solution.

And Ben will probably work out how to defeat that one too.

That’s our journey.

And we’re still very much in the middle of it.