Thursday, 30 April 2015

When You Have a Life Limited Child Hospice Care Means So Much

I used to daydream about my boys growing older. I'd imagine them playing football in the park, squabbling over computer games and teasing each other about girls. In my mind's eye, I'd see them going for their first pints together and being best man at each other’s weddings. With just 14 months between them - one blonde and tanned, the other dark haired and pale - I saw two strong, handsome men, best friends as well as brothers. 

But then we found out that Hugh, the younger of my sons, has an undiagnosed genetic condition that means he is unlikely to live until adulthood. 

Amongst other things, he has a rare and severe form of epilepsy which causes him to stop breathing for prolonged periods of time, most recently over 15 minutes. The life-limiting label robbed me of that right to dream so far into the future, and the life-threatening label scared me into thinking every day would be the last.

In all my pre-child fantasies about what life would be like with children, I never once imagined a hospice. Who does? When the option was first suggested to me, I shuddered, sickened by the implications. A hospice is no place for a baby, my baby! I refused to even entertain the notion that we might benefit from such a place.

But at 18 months old, Hugh required 24-hour care. His needs were physically and emotionally draining. He was stopping breathing so frequently that I literally couldn't turn my back on him; I was giving him mouth to mouth as often as 15 times a week. 

We hardly slept, afraid of what might happen if we did. Instead we would doze on and off throughout the night, with Hugh between us in the bed, each of us holding his hands so that we'd immediately spot any subtle movements that might indicate he’d stopped breathing. Some nights we'd jump from the bed two, three, four or more times - one of us switching the light on and grabbing the phone ready to dial 999, whilst the other gave mouth to mouth - hearts racing, adrenaline pumping and barely enough time to catch our own breath before trying to breathe for Hugh. It was exhausting.

"The physical and emotional drain on a family caring for a child that needs round-the-clock care can be staggering. Hospices can offer a break from the pressure of day-to-day caring and a step back from the enormity of the caring role. It allows you to ‘just' be a parent again; not a carer or a nurse or a physiotherapist or a doctor or a pharmacist. Just Mum."

Added to this was the daily physiotherapy he needed to try to teach him to sit and stand, the visual stimulation to encourage him to use his eyes, the regular medications and his tube feeds 5 times a day for an hour at a time. 

And that was when he was well. When he was ill, it became more intense; we'd have to monitor his temperature hourly, do chest physio every four hours, give him nebulisers every two hours, and suctioning, all to try and prevent chest infections. Many nights the living room resembled a high dependency unit, with monitors and flashing lights and oxygen. I'd sit on the sofa drinking coffee to stay awake and alert, carefully watching Hugh as he slept fitfully in his pushchair next to me.

And through all of this I had a two-and-a-half year-old who needed me, too.

It was our older son who finally allowed me to accept that I needed support and that a hospice might be the place to get it. The fact that Sean was missing out on his childhood because I was so preoccupied with Hugh's care needs made me admit I needed help. The complexities of his condition meant getting a child minder for a few hours just wasn't an option, and so it had to be the hospice. 

Accepting that my baby was eligible for support from a hospice broke my heart. Like many people, I had preconceived ideas about what a hospice is. I imagined a sad and depressing place; solemn and morbid. But nothing could be further from the truth. A home from home, it was, and still is, warm, welcoming and inviting. Yes, end-of-life and bereavement care is a significant part of their work, but it is not their sole focus. They offer respite and support for the whole family as well. 

The physical and emotional drain on a family caring for a child that needs round-the-clock care can be staggering. Hospices, like Acorns – our local children's hospice – can offer a break from the pressure of day-to-day caring and a step back from the enormity of the caring role. It allows you to ‘just’ be a parent again; not a carer or a nurse or a physiotherapist or a doctor or a pharmacist. Just Mum. 

Letting someone else take responsibility for the burden that I felt should be solely mine was hard - but I relished the opportunity to spend carefree hours with Sean in the park. Instead of checking for emergency vehicle access and watching Hugh like a hawk, I could push Sean on the swing and run through the trees. The weight was temporarily lifted from my shoulders. It took time for me to adjust to not having my little shadow continuously by my side, but the breaks rejuvenated me, leaving me stronger to face the days ahead. 

The contentment of a full night's uninterrupted sleep, or the chance to have a quiet meal out with your husband are simple pleasures many take for granted, but without our local children's hospice, these would not be possible for us. The hospice has taken the broken pieces of our family and carefully nurtured them back to a whole. They have picked us up at our most scared and vulnerable, held us close and assured us that although they can't make it all right, they can help us through.

Though the future remains uncertain at best, the care and compassion our family have received from Acorns has helped us to see the light on even the darkest of days. We are eternally grateful for their support.

This post was originally posted on Mumsnet in 2014 to celebrate and raise awareness of Children's Hospice Week.  This year #ChildrensHospiceWeek runs from 11th- 17th May with the theme 'Making Every Moment Count' .  You can find out how you can join in and support it here:  I'll certainly be showing my support again this year and sharing the moments that count for us #momentscount

Wednesday, 29 April 2015

Without A Label Support Is Harder To Access

My son Hugh is five years old and in his reception year at a school not far from our house.  He’s a really happy little boy with a head full of crazy hair that points in every direction except the way you want it to.  He laughs a lot, particularly at fart noises, and he loves music and singing.  He’s not much of a morning person mind you and he gets ever so grumpy when he’s tired.  He’s a little brother to Sean, aged 6, and he brings joy and laughter into our lives every single day.  “Just like a typical, little boy”, you might say.  And he is!  Except he can’t walk. Or talk.  Or even sit yet.  He’s fed through a tube that goes directly into his stomach. And he’s blind. And sometimes he’s stops breathing for so long that we have to breathe for him.  To the outside world, he is profoundly disabled.  To us, he’s just our little Hugh. 

You might be wondering ‘what’s wrong with him?’ or rather ‘what’s his diagnosis?’ which is a much kinder way of asking the same question. And the truth is, we don’t know.  No one knows.  Imagine that! All the tests, all the doctors, all the specialists and all the expertise that the NHS has to offer and still we’re none-the-wiser. 

Apart from the frustration of not knowing and not being able to give a simple answer when people ask about Hugh, not having a diagnosis comes with its own unique set of challenges.  Without a diagnosis, sometimes the problems aren’t taken as seriously - from the patronising doctor who implied it was all in my neurotic mind, to the kindly relative who assumed he’d grow out of it and catch up.  Professional support is often allocated after diagnosis; Hugh waited much much longer for physiotherapy, early teaching support and community nursing care than a child very similar to him who had a confirmed diagnosis at birth.  Even access to equipment and adaptations to make his life easier were delayed through the lack of diagnosis; the occupational therapy team discharged him and said they’d reassess him for ramped access when he was older as without a diagnosis there was no guarantee he wouldn’t learn to walk.  Sadly, I’m not alone in finding this and many parents of undiagnosed children find they have to fight to get taken seriously.  Hugh requires 24 hour care and regularly stops breathing, yet despite the fact that I was resuscitating him nearly 30 times a month and was completely at breaking point, we had to beg for help.  Without a diagnosis there was no prognosis and so we didn’t fit neatly into any support package.  Support and understanding shouldn’t be restricted to those with a diagnosis.  Furthermore access to many parent support groups is based on the diagnosis attached to your child, so at a time when you’re already struggling physically and emotionally and feeling isolated and alone, you’re further excluded from accessing support by not having the right ‘label’.  It is ridiculous that when as many as 50% of all children with learning disabilities* do not have a definitive diagnosis for their difficulties that not having a label still remains such a barrier.  This needs to change and awareness raising days like today’s Undiagnosed Children’s Day is one way of doing this.

In the meantime, we continue our search for the ever elusive diagnosis.  A  diagnosis wouldn’t change Hugh, but it might help us understand him better.  It might enable us to find treatment to control the rare and life threatening form of epilepsy that stops him breathing so often.  It might give us clues as to how best to support his physical and cognitive development.  It might give us a glimpse into the future and help us understand the past.  Maybe we’d find others with the same diagnosis, people further along the path that could give us guidance, encouragement and hope.  A diagnosis would provide answers as to how this happened to Hugh.  Is it a faulty gene he’s inherited from us and if so could it happen again?

And that is why we, and so many families like ours, continue to search for a diagnosis.

That is why I have traipsed from one end of the city to the other and beyond, attending appointment after appointment.  Over twenty different doctors and specialists, spread across six different hospitals, all with forms to fill in, questions to answer and tests to perform.

That is why I have spent hour after hour on the internet, scouring medical journals and trawling through search engines, looking for clues.

That is why I’ve woken in the dead of night, heart pounding, panic rising in my chest, desperately trying to silence the screams of fear in my head. Fear of the known and the unknown.  Fear of what might be to come.

That is why just last week  I cupped his head in my hands and sang ‘row, row, row your boat’ for 20 minutes while two nurses pinned him down and stuck a needle in his arm repeatedly to try and extract 7 millilitres of blood from his tiny veins.

That is why I’ve handed him limp and unconscious to strangers so they can scan his brain under a general anaesthetic.

I want to know the reason behind his difficulties.  I want to know what caused this.  I just need to know why.

Because if I know why, then maybe I can help him.

Because if I know why, then maybe I can protect him from the worse things that might be to come.

Because if I know why, then maybe I can prepare myself for the future.

Because if I know why, then maybe I’ll know whether Sean or his children or any future children could be affected.

Because if I know why, then maybe I’ll know it’s not my fault.

This post was written for Undiagnosed Children's Day and originally featured as a guest post on mumsnet here: Mumsnet Guest Post

Friday, 24 April 2015


I have a son.
He can't walk.
And I don't know why.

He is five years old.
He can't sit up.
And I don't know why.

His name is Hugh.
He can't talk.
I don't know why.

His hair is dark.
He can't eat.
And I don't why.

His eyes are brown.
He can barely see.
And I don't know why.

He smiles a lot.
He forgets to breathe.
I don't know why.

Hugh is happy; he smiles and laughs all the time.  He loves being outside in the wind and listening to music and singing.  He likes little tastes of chocolate and he loves his big brother Sean.

He is profoundly disabled.

I don't know why.
The Doctors don't know why.

Hugh is undiagnosed.

Monday, 13 April 2015

Weaning off the Ketogenic Diet

Hugh's Food.

Just over three years ago I started chronicling the start of Hugh's journey on the ketogenic diet. He'd had epilepsy for 15 months and in that time progressed from having one seizure a month to well over thirty a month. Each of these seizures caused him to stop breathing for prolonged periods of time and we were resuscitating him frequently. He'd lost and subsequently regained the ability to smile and lift his head and he'd gone from drinking milk from a bottle to being fully tube fed, never regaining the ability to swallow safely. 70% of people diagnosed with epilepsy can control their seizures with medication, for the remaining 30% the chance of finding a drug to work significantly decreases with each new drug that fails. Hugh, typically, was in the 30% and having tried five different anti-epileptics and combinations of ant-epileptics, each with their own horrible side effects, he'd reached a point of being labelled 'medically intractable' that is his epilepsy could not be controlled by drugs. 

The ketogenic diet was our last hope. We were virtual prisoners in our home, Hugh and I. Rarely venturing anywhere except to hospitals. Even at that, routine appointments meant someone else had to drive me there so I could sit in the back to check Hugh was still breathing. He couldn't be left alone for a second and at this point, other than Stephen and I, no one else was trained to look after him. The diet was the light on the horizon, the hope for the future, offering us a way out of the epilepsy hell in which we lived. 
It was discovered a long time ago that when people with epilepsy were starved there was a reduction in seizure activity. Starvation as a treatment model doesn't really work though! But the ketogenic diet appears to mimic the effects of starvation, by providing large quantities of fat for the body to break down and use as energy which in turn produces ketones. These ketones somehow affect the brain and can have an anti epileptic effect. In some, the diet eliminates seizures altogether, so that the patient can be weaned off their anti-epileptic medication and still remain seizure free. 

For Hugh, seizure free never really happened. However we had a huge reduction in the frequency and severity of seizures he was having. Rather than resuscitating him on an almost-daily basis, he now only requires mouth to mouth every three months or so. The longest he has gone without stopping breathing is 9 months- this is something we could have only dreamed of prior to the diet. Hugh still has frequent seizures, most days in fact, but they rarely need any medication to stop them and other than comforting him and checking that he's safe, there's little we need to do for them. More importantly they don't affect his breathing or his heart rate and for the majority of them, he isn't really bothered by them. 
The drug weaning was less successful. We tried to reduce the amount of Phenobarbital he was on and his seizures went into overdrive, worse than ever before. At one point he stopped breathing for a full 16 minutes. His drug dose hasn't changed since!
But on the whole, the ketogenic diet has been a resounding success.
However, the diet itself is not supposed to be a long term solution. Children generally don't stay on it for longer than two years... And Hugh's been on it three. No one really knows the long term effects of a high fat, low carbohydrate diet on the body, but it's clearly not a balanced diet. Recent studies have shown that prolonged use of the diet can lead to problems in bone density resulting in an increased risk of fractures, particularly in non-mobile children like Hugh. Clearly this is a complication we would like to avoid.
So the time has come to begin the slow wean off the diet and hope that the frequency and
The kit to test Hugh's ketones
severity of Hugh's seizures do not increase. We are very gradually introducing small amounts of carbohydrate to his diet and testing his blood daily to check the effects on his ketones and blood sugars. To put it into context: prior to weaning Hugh's daily carbohydrate allowance was approximately that of half an apple- told you it was a low carb diet- and we are gradually increasing it by about the same amount of carbs as a small carrot once a week! It's a slow and carefully monitored process. 
Up until yesterday - we've been weaning for a couple of weeks now- Hugh was still in 'ketosis', that is to say his ketones were still at the optimal level for seizure control. Now however they have dipped, ever so slightly below that level. As you can imagine, 'seizure watch' has stepped up in its intensity and I'm watching him like a hawk. We're all on high alert and ready to respond should his seizures start creeping up in severity or frequency, but we're really hoping that won't happen. In fact, although I'm nervous, I'm cautiously optimistic about what this could mean for Hugh. The high fat diet hasn't helped Hugh's tummy troubles and he's been on a huge amount of medication for reflux and constipation, I'm hopeful coming off the diet will ease those symptoms and enable us to reduce the medications he's on. Plus not being restricted by the amount of carbohydrates he can eat opens a whole new world of tastes for him- chocolate in particular!!! He loves chocolate, but it's far too high in carbohydrate to allow him much. Sean will have to keep a tight hold of those Easter eggs if this weaning works out OK.
Which one shall we share first Hugh?
I'll keep you all updated with his progress of course, but in the mean time please keep Hugh in your thoughts and prayers and join us in hoping for a successful, seizure free wean from the diet. 

Tuesday, 7 April 2015

Wishing for Normality

Sean said those immortal words today; the ones I'm sure many parents of a child with special needs dread.
"I wish Hugh was normal".
I froze, unsure how to respond, seriously contemplating ignoring him and pretending I hadn't heard.  It's not that I hadn't expected this.  He's danced around it for some time, getting notably upset last September when Hugh started at a special school and didn't join reception class at his school like so many of his friend's little brothers and sisters.

He sat at the table, his spoon poised half way between his breakfast and his mouth and he waited expectantly.
Sean's prayer for his brother

It's not that he doesn't love his little brother.  Far from it; he absolutely adores him.  Last parent's evening his school books referred time and time again to Hugh. I had a lump in my throat reading a prayer he'd wrote; "Thank you God for my little brother Hugh".  

I just wanted to get the answer right.  Over the years he's going to feel a huge mix of conflicting feelings about and towards and because of Hugh.  I want him to know he can talk about them to me, even the really not nice feelings, like anger and shame and guilt.  I want him to know that it's OK to feel like this sometimes.

"What do you mean?" I replied, buying time.
"I wish he was normal so he could play football with me".

So simple.  Such a simple thing to want.

"You know what son, sometimes I wish he could play football with you too!"
And I do.  It makes me so sad to see Sean playing on his own, when if things were different, Hugh just a year younger would be out there playing with him too.

But I pointed out all of the things he and Hugh can do together; swimming, playing on the swings, going out on their bikes.  And all of the things they don't do like fight over toys or tell tales on each other.  I reminded him of all the exciting things he's done because Hugh is 'different'; the trip to Legoland, the holidays in Wales, the visits to the Donkey Sanctuary, the stays at Acorns (Children's Hospice) and all of the people he knows now that we've met because of Hugh's differences.  The answer seemed to satisfy him, particularly as he was looking forward to going swimming at Acorns later in the day, and he went back to eating his breakfast.

I dwelt on the conversation for some time.  Should I have said more?  Should I have challenged his use of the word 'normal'?  Should I have used the opportunity to discuss difference, diversity and disability...?  In the end I decided that 8am was probably far too early for that kind of heavy talk with a six year old!

Later in the day we drove past Hugh's school and I mentioned there was a swimming pool there.  Sean was indignant.

"I wish I was disabled" he said.
I guess when you're six, it really is that simple.  Sometimes it's better being 'normal' and sometimes it pays to be disabled. 

Thursday, 2 April 2015

The Next Big Adventure

We're going on a bear hunt,
We're going to catch a big one,
What a beautiful day,
We're not scared .... *

Picture the scene, I'm sat at the laptop, glass of wine cup of tea in hand, tweeting about life with an undiagnosed child.  It's part of the regular 'twitter takeover' that SWAN UK hosts each Wednesday evening (8pm - 10pm) where members of SWAN UK share their own experiences of searching for a diagnosis to help raise awareness.  I tweeted about Hugh's unusual results and the tests we'd undergone in the hope of finding the cause of his difficulties.  Two hours and countless replies and retweets later, I congratulated myself on a job well done.  

Shortly after, I spotted a private message to Hugh's facebook page.  "I saw your post on the SWAN UK twitter feed...", it started.  My heart sank.  I'd been trolled.  I'd opened up our lives to the general public and some sicko was going to abuse me because of it.  Reluctantly, I carried on reading.

"I might be able to help with Hugh's diagnosis" it continued.  Yeah right.  I've had the odd comment before where people have known exactly what's causing his problems.  I don't mean people with training, geneticists, paediatricians and the like, I mean kind old ladies in Tesco whose next door neighbour's son had the same thing.  Well meaning, but wildly off the mark.

Rolling my eyes, I read on.  And as I did so, my heart started beating a little bit faster, the first tinges of excitement building.  This lady knew what she was talking about, she talked about genetics and studies and a specific research project based in America.  Initially I was reluctant to let go of the thought that it might just be a hoax by a well educated troll before jumping to the conclusion that it was in fact a scam to extort vast sums of money from desperate parents.  (Paranoid? Who me?) 

However, turns out it wasn't a scam!  It turns out there IS a research project in America recruiting participants with apparently balanced chromosome rearrangements that have learning difficulties like Hugh.  And they don't want money for it.  It's all above board, genuine and very exciting.

Fast forward through lots of emails, discussions between the research team and our geneticist and here we find ourselves, bringing this to fill in with our geneticist today.

sign here, and here, and here, and here, and here, and here, and ...

And so it starts, questions asked, forms filled in, bloods to be taken and all shipped off to America.

And now we wait.

The study will look at the specific break points on Hugh's DNA in such detail that they should be able to pinpoint any missing genetic material or gene disruptions in these areas.  In short, this could provide us with a diagnosis, a reason for all of Hugh's difficulties.  

So it feels like an adventure of sorts.  An exciting adventure where we get to hunt for the big bad bear; the bear that caused Hugh's epilepsy, the bear that's tried to take him from us so many times.  

Potentially it could lead us to other people with the same genetic faults.  It could give us information about Hugh's future.  It could give us ideas for treatment and ways we might be able to help him.  I know of others that have accessed better support, been offered services that had previously been unavailable without a diagnosis.  To be able to put a name to this 'thing', even if it's just a list of letters and numbers denoting a specific gene, would be a relief.  Even after all this time, I still really just want to know 'why'.

But I'm also afraid of opening Pandora's box.  What if it's bad news? I mean, worse than we already know.  

The thing with bear hunts is sometimes you find the bear.  
And perhaps it's safer to let sleeping bears lie.

You can find out more about the Developmental Genome Anatomy Project on facebook here or on twitter here.

*Reference:  1989, Michael Rosen, We're Going On A Bear Hunt