Wednesday, 27 November 2013

Has anyone seen my bucket of sand?

Has anyone seen my bucket of sand?
It was here earlier, I'm sure.
I think I lost it after that phone call from genetics.
It's got a head-shaped hole in the middle.
If you find it, send it back.
I miss it.

I had a call from the genetic counsellor today. It was expected. I'd requested it. Hugh was last seen by genetics at 10 months old; so much has changed since then, I felt they needed an update in case these new developments pointed towards some hitherto unthought of genetic condition.

My first meeting with the genetic counsellor had floored me. It was the misnomer you see- counsellor. I'd gone to that appointment expecting different things; counselling, support, information, understanding. Instead I was questioned about the lack of Hugh's development and interrogated about the cause of death of various family members. The purpose of the appointment was to construct an elaborate family tree and to get all the relevant information before the meeting with the Consultant Geneticist; it certainly wasn't to counsel me or to make me feel better about my failings as a parent. I left that appointment feeling like I'd been brutally stripped of any dignity I had left; I was no closer to finding out why my son was so delayed and still had no clue about what the future might hold for him. It took me a good 15 minutes of crying in the hospital toilets and a strong cup of tea in the canteen before I'd stopped shaking enough to be able to drive home.

This appointment would be different though. I knew what to expect; a question and answer session where I could elaborate on the developmental progress Hugh had made and draw their attention to some of the new diagnoses he'd had since our last meeting- most notably epilepsy.

"So Mrs Murphy, when we last spoke there weren't concerns about Hugh's hearing or vision... Is that still the case?"

"Ah, no- he's been registered blind since then."


"When we last spoke Hugh was 10 months old. He needed support to be able to sit. How has he progressed since then?"

"Ah, well... He still can't sit. 
Or stand. 
Or crawl. ... 
He can roll from his back to his front sometimes".


"And he's three and a half now, I understand. At 10 months he was making no speech like sounds or babble. Does he have many words now?"

"Erm.. No. He doesn't speak. Or sign. He has no meaningful intentional communication, unless you count crying and smiles."


"He'd had a normal EEG and ECG when we last met,anything new there?" 

"He's developed epilepsy. Life threatening epilepsy. He stops breathing for minutes at a time."


And on it goes ...

"Any feeding issues?" "He's fed via a tube".

"Any hospitalisations?" "Hundreds"

And on. And on. And on.


What I learnt in the course of that 45minute telephone conversation is that for all intents and purposes, my son has made no discernible progress in most areas of his life since he was 10 months old and in the remaining areas he has actually regressed or deteriorated. 

And he was already significantly delayed at 10 months old.


Conversations like this used to happen regularly. Each time I'd feel depressed and miserable, then drag myself up and just keep on going. Until the next appointment. When I was asked to recount his failings again.  But it's been a long time since we've met anyone new.  It's been a long time since anyone's asked if he was full term, if it was a normal delivery. Everyone knows Hugh now. Hugh's just Hugh- he does things his own way, in his own time. I know he is so far off track that we can't even see the target with binoculars. I know there's no way we are ever going to hit any recognisable milestones within a socially acceptable timescale. I no longer compare him to typical three year old boys and feel sad. In fact, apart from the occasional pang when a month old baby overtakes him developmentally (usually with eye contact or an amazing ability to hold their own head up) I don't really compare him at all.

You see, Hugh's health took a nose dive shortly after our last encounter with genetics. He had chest infection after chest infection. His seizures became more frequent and severe. He was in and out of hospital, week in, week out, often rushed in by ambulance. He repeatedly stopped breathing for minutes at a time, starving his tiny little brain of oxygen. Cocktails of powerful anti epileptics were pumped through his veins.  

Until at 16 months old, 
He could no longer feed orally and was fed via a tube, 
He could no longer roll, 
He could no longer use his hands,
He could no longer hold his head up,
He could no longer smile.

Setback, after setback; seizure after seizure; illness after illness; Hugh has fought back. And miraculously made progress.

And since he doesn't tick boxes on the regular developmental charts, he's decided to write his own.

Does your child...

Have a beaming smile that could light up a room?  [Y]
Ensure everyone they meet falls in love with them?  [Y]
Have the most fascinating hands in the world?  [Y]
Use said hands to grab shiny things and try and eat them? [Y]
Have everyone wrapped around their little finger?  [Y]
Use fake crying to get out of things they don't want to do?  [Y]

Now that's progress! 



* Disclaimer
The first appointment with the genetic counsellor might sound horrendous, but she was just doing her job. I'd misunderstood what that job was. I was struggling emotionally to come to terms with what was unfolding around me and that appointment tipped me over the edge.
During our most recent conversation, she was friendly and helpful. She didn't make me feel that Hugh wasn't achieving what he should be, I just felt deflated after the conversation as it brought the cold hard facts to light. She didn't make me feel that way.
Just felt I needed to clarify that in case anyone felt the genetic counsellor was to blame.*

Ethans Escapades

Friday, 22 November 2013

In the event of an emergency ... Please don't panic

I like to plan. I like to plan what I'll say in certain situations, what I'll do. I think of possible outcomes and plan how I'll respond, I deliberate on the alternatives and plan how I'll react. As a child, I remember meticulously planning my emergency exit strategy in the event of a fire; questioning my mum as to whether the chair would successfully break my bedroom window and how I'd manage to heave the mattress out of the window to break my fall, though I reasoned if this wasn't possible that broken legs were preferable to being burnt alive. 

Planning stops me panicking. If I'm prepared then I'll react appropriately. The first few times Hugh stopped breathing, I went into a blind panic, screamed, cried and called 999. I didn't try to resuscitate him, it didn't even occur to me; I was panicking too much. A state of panic is not a helpful state to be in. So now, whenever I go out, I plan how I'll respond if he stops breathing. I know where the oxygen is in the car, I have exit strategies for different buildings I go to, I always have half an eye out for places to pull over when I'm driving, it keeps Hugh safe and it keeps me sane. I know how I'll respond because I've practiced it in my mind. I won't go to pieces, I won't panic. And I rarely do, to be honest. I wait until he's safe in hospital, and all is quiet, and then I'll cry.

What I haven't planned for though, is what if something happens to me? Not as in, if I die- that's a whole other stress and panic and worry that will eventually become a blog post if I can stop crying about it long enough to write it (but if you want to read someone's else's take on this in the mean time, my good friend has summed it all up quite nicely here) - but what if I'm in a car accident, or my car breaks down, or I'm stuck in a traffic jam on the motorway and I can't get back to Hugh? Previously this wasn't an issue- invariably Hugh was with either me or Stephen, and the few hours he spent away from me with a carer, I was rarely ever more than 10 minutes away from him anyway, always nearby, phone in hand, ready to get back in the event of an emergency. But he's at school now and spending regular time away from me each week.

If I got stuck on the M42 and couldn't get back to school,there's a multitude of people who would look after Sean- grandparents, uncles, friends, neighbours... The list is endless. He doesn't take much looking after- he'll tell you when he's hungry, he can dress himself and go to the toilet by himself. The biggest problem you'd have is that he'd talk the ears off you! But in the event of an emergency Sean is sorted!

But Hugh? 

What if Stephen was in Ireland? And I got run over by a bus and broke both my legs? Or fell ill with appendicitis? Or got trapped in a lift? What if ... What if ... What if? There are any multitude of (mostly implausible) things that could happen to stop me being able to care for Hugh temporarily. So what happens then? How do I plan for that?

And this is the point I start hyperventilating. Apart from feeding him via his tube, anyone he is left alone with also needs to be able to resuscitate him (either with a bag and mask or giving mouth to mouth) and administer emergency medicine in the form of buccal Midazolam. 

There's a wonderful service called +cers who run an emergency service for carers. If you care for someone elderly or disabled, you can register with them. They'll write a detailed care plan and should you collapse whilst out walking the dog, the police- or whoever finds you- will be able to ring the number on the handy little key fob they give you and the +cers service will ensure that the person you care for is looked after for a period of up to 48 hours (longer on bank holidays). It's  great service and they're a lovely team. I'd really recommend them if you care for someone with less complex needs than Hugh.

They don't do tube feeding however, which for a short period of time isn't a massive issue for Hugh- with cheeks the size of his, he's hardly in danger of starving any time soon. For tube feeds they'd ask a community nurse to come and give them. So it's not ideal, but its manageable.

But they don't administer buccal Midazolam. Which is a much bigger issue since its necessary to keep him alive. 

So that's that plan out the window then.

Time to hyperventilate again. 

So how do I plan for Hugh's care if something happens to me in an emergency?  First- I'll keep praying that nothing ever happens to me! Failing that though, I guess it's Acorns Children's Hospice or the Community Nurse. It's not the best or most detailed plan in the world, but right now, its all I've got.

I'm not giving up on finalising a good plan just yet though. I've requested life support training again- it's always good to have a refresher- and I'm hoping some family and friends will be prepared to learn as well. They've done it before, long ago- before Hugh's seizures became really frequent and before we knew what a threat to his life they posed.  Our community nurse can train how to administer buccal Midazolam too. So then, in an emergency situation, if I suddenly developed amnesia or was kidnapped by aliens, there'd be a well trained army of people to help out with Hugh too.

If you want to find out more about the carers emergency response service you can do so here: http://www.cers.org.uk/

Thursday, 21 November 2013

Man Flu and Hugh

In the words of the Marks and Spencer's advert: It's not just a cold... It's a super-snot charged, nose clogging, breathing stopping, chest blocking, temperature raising sleepless night ensuing, germ fest.

You know the sort.

Except, with Hugh, even when it is 'just a cold', it really isn't just any old cold. 

Here's why:

• Hugh has to work hard to breathe when he's asleep. He's still really floppy, it's why he can't sit yet, he's got 'hypotonia' - floppy, not very strong muscles. Everyone's muscles relax a bit when they're asleep but when you're already floppy this can cause breathing difficulties. Hugh had his (huge) tonsils and adenoids removed to make more space and to make breathing easier for him, but he still has prolonged pauses in his breathing (apneoas) when he's asleep. We're still unsure whether this is just his brain forgetting to breathe (Central apneoa) or his floppiness making it difficult to breathe (obstructive apneoa), a long awaited sleep-study should tell us more. When his airways are blocked up (or partially blocked) with snot or inflammation this can make breathing even harder than usual. 

• Temperature and illness are seizure triggers. Seizures for Hugh mean stopping breathing and hospital admissions. 

• Cold - chest infection - pneumonia ... We all know how easily colds can go to your chest and cause chest infections, even in the most healthy of us. But, like the elderly, Hugh is vulnerable to this developing into pneumonia. Any chest infection is bad news for Hugh. Being unable to sit makes it more difficult to clear a chest infection- movement and positioning are key in getting the gunk off your lungs. Pneumonia in children like Hugh can be fatal.

Winter and starting school herald a dangerous time for Hugh with all those germs and all those colds to catch. He's been immunised against flu and hopefully that'll stave off the worst of it. 

Tonight, the first vestiges of a cold have appeared; grisly boy, running nose, slight temperature, so I'm on high alert. 
*Calpol's been given, 
*Temperature taken- I'll monitor this throughout the night, and adjust clothing/bedding as necessary.
*He's hooked up to the sats monitor (as he is every night) and in bed with me so I can keep a close eye on his heart rate and oxygen levels. So far oxygen's ok but heart rate quite elevated- this will be due to the slight temperature and the fact he's working so hard to breathe.
* I have the suction machine ready to suck up all the nasties if (and when) they block his airways
* I've done (and will again during the night) chest Physio to make sure none of the gunk sticks in his lungs, hopefully preventing a chest infection. 
* I have his emergency rescue medication to hand, in case he has a seizure.
* He's positioned carefully- head elevated, airways open to aid his breathing and I've brought his moulded bean bag to the bedroom in case he struggles and needs to be even more upright in the night. 
* There's a nebuliser in the house on standby if needs be, plus oxygen, and we have open access to the children's ward should he get very ill quickly. 

So whilst it is 'just a cold' and he'll no doubt be fine with a bit of calpol to tide him over the worst of it; I thought I'd share the level of preparation that's needed to manage  the common cold in a child like Hugh. 

Hugh really does like to take the notion of man flu to a whole new level. 

Thursday, 7 November 2013

Drum Roll Please ...

When babies reach for themselves in the mirror or bat at toys, you don't even think about the thought process and control of movement that goes into it- you take it for granted as just another stage in their development. But when your child struggles, you start to see the miracle that these simple achievements are.  

I remember about a year or 18 months or so ago watching a video of a friend's son playing with a toy drum. He's a similar age to Hugh and developmentally delayed as well. I was delighted and amazed at how he'd reached and used his hands intentionally to hit the drum, smiling then at the loud noise that resulted from his actions. I couldn't imagine Hugh ever doing that- it seemed too big a step for him. He had (has) limited control over his movements and his vision is so poor that seeing and then reaching for objects seemed nigh on impossible.  It also takes a level of cognition I wasn't sure was achievable- a simple understanding of cause and effect; the ability to formulate an idea in the brain and then work out how to do it before finally telling and making your limbs cooperate.

Then one day, Hugh found his hands. He loves his hands. He eats his hands. He holds his hands for hours on end.

Then he started to reach for things- familiar toys; first with one hand, then with two. Two hands working together.

And he started activating switch toys, first by accident when his hand knocked the switch.  And then with concentration and purpose.

Little by little.

Step by step.

Until this week, he did this:



I'm linking this up to the linky on Ethan's Escapades which celebrates 'Small Steps; Amazing Achievements', because it is, it really is!


Ethans Escapades