Wednesday, 30 May 2012


Bedtime.  All parents know the drill – a good structured bedtime routine pays dividends.  We’ve all heard about those angels that sleep right through the night from 5 weeks (lucky bastards).  Well, I read the books – The Baby Whisperer, Gina Ford and I even attempted it with Cheeky.  To be fair, he’s pretty good now – it didn’t go according to Gina Ford’s plan and it took him until he was about 6 months old to sleep through the night, but he got there.  His major issue was that the greedy little bugger was so hungry all the time.  You’ve never seen a baby eat like it, I swear.  By 6 months – the time you’re supposed to start weaning – he was polishing off a couple of weetabix for breakfast and chomping on spuds for lunch and dinner.  But nowhere, nowhere at all in the Gina Ford bible does it tell you how to establish any kind of bedtime routine or sleep pattern with a child like Little H.  I genuinely would LOVE Gina or flaming super nanny to come and have a go.  Come on – I dare you!!! 

First – how on earth are you supposed to teach a child the difference between night and day if they are so visually impaired they can not tell light from dark?  What if they have so little interest in others, including their parents, that it would be impossible to ‘overstimulate’ them by talking to them in the night?  Or how about if it is impossible to wake them?  I kid you not – Little H wouldn’t wake.  That child had no idea when he was hungry and in order to wake him long enough to get a bottle into him (pre tube-feeding days) I’d strip him naked and wash him in cold water.  Awful I know, but he’d genuinely have starved if I didn’t.  Even then he’d barely stay awake.  He slept for hours and hours and hours on end.  And then cry through the night.  And that mantra that new parents repeat to themselves and console themselves with – “they’ll grow out of it/it’s only for a short time” - well that didn’t apply in H’s case either.

Things changed eventually.  He began to distinguish light from dark at around a year old and I tried to get a bit of a routine going – bath, massage, chill out music, bed – not easy when you’re trying to put a toddler to bed also, but I swear I did try.  Yet every time I seemed to be getting somewhere and he’d have a good night’s sleep, he’d get ill and we’d be back to square one.  I soon came to realise that the only time he slept through the night was in fact when he was ill.

And then the fits started (or rather got much much worse).  And there was no sleep for anyone.  It is very hard to sleep when you are genuinely convinced that your child will stop breathing when you close your eyes; not an unsubstantiated fear either.  We fought tooth and nail to get an apnoea monitor which alleviated some of our fears but then the little bugger altered his seizures by moving during them.  So whilst not breathing, and rapidly turning a navy-er shade of blue, he could fool the apnoea monitor that he was still breathing by ever so slight contractions of his tummy muscles.  Pretty clever, huh?  So then came the battle with the powers-that-be for a SATS monitor – by now the only reliable tool that will tell us if he has stopped breathing.  But by then, peace of mind was out the window.  And with it went sleep.  And any need whatsoever to establish a healthy bed time routine. 

Little H goes to bed when we go to bed.  At over two years old he sleeps in a cot in our room.  He is too big for the cot but there is no room for anything else.  The cot is placed at the end of our bed.  And we sleep the wrong way round in the bed so that I can quite literally hold his hand while I sleep.  I don’t tend to do that mind – it would absolutely wreck my already near-knackered shoulder (two year olds with low muscle tone can be pretty damn heavy) – but it does mean that if he stirs, or his monitor goes off, he’s close enough to check on quickly.  Really quickly.

However, in the absence of the seizure monster, things are starting to change!  I recently started sleeping with my head by the headboard – a whole bed-length away from Little H.  Then, I moved his cot under the window – a whole two feet away from the edge of the bed.  This really is a major achievement for us, ridiculous as it sounds.  But these little steps mean we are slowly edging ever closer to some semblance of a “normal” life and a “normal” bed time routine.  I have, on occasion, even put him to bed and left him upstairs alone while I came down to prepare his medicines and his night feed.  He was attached to the SATS monitor and I could watch him on the baby video monitor and our house is so tiny I could practically reach him from the kitchen anyway, but all the same – it’s a big achievement.  I can only liken it, to those early days when you put your first child in their own room (I imagine most second children don’t get quite the same level of ridiculously, unnecessary, overprotective anxiety) and you walk around downstairs with the baby monitor at full volume, pressed to your ear, listening to every sound, turning down the TV just to be sure you don’t miss anything.  And then, when you hear nothing, you rush nervously upstairs to check they’re OK.  Or was that just me?  Assuming that’s not just me and it is a madness that manifests itself in many first time mothers; take that feeling of panic and anxiety and magnify it ten-fold and you’ll come somewhere close to what I’m feeling. 

And the sleeping through the night?  Well that’s a bit hit and miss.  He can sleep through on occasion (10pm until about 6am) but there is no rhyme or reason to it or any element of predictability.  Most nights he wakes between 2:30 and 4am and can stay awake for any length of time.  Sleeps during the day appear to have no bearing on how well he will/won’t sleep at night.  Last night he woke at 4:30am and stayed awake until he nodded off in the car at 11am!  I have no idea what tonight will bring.  If he is happy when he wakes, it’s easy enough though he wriggles so much that the SATS monitor doesn’t work as effectively and can alarm repeatedly.  He’ll happily lie in the cot and play with his hands and make noises to himself.  If he is upset though that can be harder to deal with and exhaustion usually leads me to the quickest way to calm him down which is to stick him in the bed with us.  Yes – I realise I am making a rod for my own back here but tiredness won’t allow me to go through rituals of ‘controlled crying’ or calmly telling him that it’s ‘sleepy time’ and walking away or  whatever it is I’m supposed to do.  And to be honest, I don’t think they’d work anyway.  Not with Little H.  Someone forgot to tell him about those rules.  He makes up his own as he goes along.

This is our version of ‘normal’ and it works OK for now.  It’ll probably be less acceptable when he’s 15 but I’ll cross that bridge when I come to it.  There’s no point worrying about it now.  H’s overall development is somewhere around the 3 month mark and I wonder if I look back at the bounty/baby centre emails that I deleted without reading (“your one year old should be doing ... blah ... blah .... blah ... sob”) if his sleep pattern roughly fits with this too.  I’d genuinely be interested to know about everyone else’s bed time routines and rituals, so please do comment and share your quirks and foibles.  If, however, your little angel goes to bed at 7 and sleeps for 12 hours (without the aid of medication) then don’t bother!  Just kidding.  Kind of.  

And I couldn't resist adding this video (don't watch if you are offended by bad language):

This post is written as part of the #definenormal blogging challenge courtesy of the lovely RenataBplus3 from Just bring the chocolate. 

Why not join in?  Define your 'normal' and get a fancy badge, like the one on the right, to add to your blog.

Don't forget to check out the other #definenormal posts too.

Thursday, 10 May 2012

The Ketogenic Diet - The End of the three month trial period

It has been a while since I posted specifically about the ketogenic diet and how Little H is getting on so I thought now that we are at the end of our 12 week trial period, it would be a good time to update you.

Superstition stopped me from counting how long we’d been seizure free and it literally wasn’t until I sat in the busy corridor, waiting to be called in to see the neurologist that I plucked up the courage to look at the seizure diary.  I was astounded and delighted to discover little H had been seizure free for awhopping nine weeks!  That’s better than anyone could have predicted and much better than his previous 31 day record atthe start of the diet.  Up until that point, I was reluctant to place too much emphasis on the effects the ketogenic diet were having on H.  I’ve been too scared to even hope that the diet could be the cause of the reduction in seizures and the increase in his levels of alertness and activity.  If the diet is the cause – then it suggests we have, at last, got some element of control over H’s seizures.  If it’s not, and it’s luck, or a good patch, or just one of those things, then everything is liable to come crashing down around us at any minute.  But nine weeks??? Surely that can’t just be luck?  Nine weeks seizure free when the usual space between seizures is 7 days?  Dare I say it?  I think the diet may actually be working for H!!!  Factor in the fact that during that time, Little H has been teething, has had a number of viral illnesses and spiked temperatures, all of which have caused seizures in the past and the result is even more remarkable.  Consider also then that H’s dose of phenobarbitone hasn’t increased since he started it last July, that he is considerably bigger and heavier now and so is effectively on a reduced dose, then the fact he has been seizure free for so long is almost unbelievable.

The neurologist agreed that the diet appears to be having the desired effects and we are now signed up for two years, with the potential to reduce (stop?) his anti-epileptic drugs and with the long term aim of being completely seizure free!  I’d never dared imagine that before.  Seizure free?  We started the diet hoping for a reduction in severity and frequency.  Seizure free seemed an unobtainable dream.  But who knows?

H’s ketones have been erratic to say the least and have taken some time to get the required levels.  Most days now we have one reading around 4.5 (in the evening) but the morning one is usually between 2 and 3.  We had a few instances where his ketones were high 5’s and occasions when they were nearly 7.  Usually ketones over 5 should be treated (with fruit juice or a mixture or maxijul and water) but H has been showing no ill effects until they get above 6, when he starts to get a bit irritable, so we only treat now if they are above 6 but keep an eye on them if they are above 5 just to check they don’t keep on rising.

As things have been easier lately, it has allowed me the time and space (mentally so to speak) to recall just how difficult things were in the not so distant past.  It is no exaggeration to say that I was terrified to leave the house, scared of what would happen if H had a seizure away from home.  At home the seizures were scary, but I could remain calm, remember what I had to do and felt some element of control.  How would I cope though if I was driving and he stopped breathing?  Or I was in Tescos?  Or the park?  I really couldn’t stand to think about it.  And always in the back of my mind, scratching away, refusing to be ignored was the thought that any one of those seizures could kill him and I couldn’t bear for him to die in the cold and wet at the side of a road.  So to prevent that happening, I didn’t leave the house.  At all!  Well, not with H anyway.

"I'll just check if it's ketogenic, Mum"
It took small step after small step to finally build up the courage to go out again.  First I had someone drive me to appointments so I could watch H the whole time, then I started local journeys.  It was a long time before I took both boys out together – what happened if H stopped breathing?  Cheeky could run out into the middle of the road.  For a long time I couldn’t/wouldn’t drive Cheeky to and from nursery – that broke my heart – but slowly, bit by bit I got there.  I remember asking our palliative care nurse if I was overreacting and he said that whilst it wasn’t healthy, it was a perfectly normal response to the trauma of having to resuscitate H at the side of the road and that I was treating his condition with the severity it deserved.  I think I’d hoped he’d say I was being ridiculous and that of course he wouldn’t die while I was out, but he didn’t and I knew then as I know now that that is a risk we face each and every day.   Yesterday, I took both boys out in the car to the ‘Big Tesco’ (not just the local one – though the big one’s not actually that far).  That was a huge achievement for me and a reminder of how far we’ve come. 

Those were really dark days.  I am only just admitting it to myself now I think.  But there were days when I cried and felt so useless; days when I was terrified and anxious and days when I quite literally sat on the floor crying and rocking.  I searched desperately for understanding; support; for people out there who knew what it was like to live with that fear that epilepsy brings.  You may recall my unsatisfactorymeeting with the epilepsy specialist nurse a number of weeks ago.  Well after some thought and careful consideration, I decided to submit a formal complaint.  I feel she should have been the one helping us through those dark days.  She should have been the one to fight for the SATs monitor, which could identify when his oxygen levels dropped so we could finally get some sleep, she should have been there to tell me I wasn’t alone, that there were others out there and that I’d get through it eventually.  I hope, by submitting a complaint, it will ensure that no-one else feels those same feelings of desperation and isolation that I did and that they get the support they need.

What do you mean I'm not as scary as my cousin?
And finally, we had an unexpected and rather unwelcome visitor this week.  Thankfully not Mr. Evil Seizure Monster, but his slightly less evil cousin – The Seizure Troll.  Yep, on Bank Holiday Monday, H’s seizure free reign came to an end.  H’s seizures don’t fit into any of the helpful descriptors you find on the epilepsy websites.  (Fit! Do you see what I did there?)  They’re ‘tonic’ in that he stiffens but of course, H, being the complicated little bugger monkey that he is, his carry on for minutes at a time, rather than seconds.  And no breathing for that length of time isn’t great.  The Seizure Troll presented a bit differently, some stiffening of his arms, laboured breathing and teeth grinding interspersed with a maniacal kind of smile/grimace.  Initially I suspected it was wind, but 6 minutes later when it ended I guessed it was more likely to be a seizure.  This is the annoying thing with epilepsy, sometimes you just can’t tell.  One friend was laughed out of A&E by a complete arse of a Doctor for thinking her sons unusual jerks and tics were epilepsy.  Some hours later, having watched the video footage she’d had the forethought to bring, he shamefacedly changed his mind.  Another friend’s son has seizures that don’t present any physical symptoms at all.  Many people have two or three different types of seizures.  How on earth then, are you supposed to tell if it’s a seizure or not?  Beats me. 

Whilst it is a shame that the seizure free reign came to an end, I don’t feel too disheartened.  We had nine amazing weeks for which I am truly grateful.  And H has developed a cough and a cold since which is probably what caused the seizure in the first place. Anyway, the key thing about this new type of seizure that presented, the thing that makes it less scary and the main reason that I’m not too discouraged is that he did in fact breathe through it. 

Thank God. 

Or the Ketogenic diet. 

Or both!  

Wednesday, 9 May 2012

A Rose By Any Other Name: A birthday tribute to SWAN UK

I distinctly remember sitting at the side of the hospital bed after Little H’s MRI waiting for the Consultant Paediatrician to come and give us the results.  We were nervous, Mr. M and I, hoping and praying that there were no obvious signs of brain damage and that this was something simple; something that could be fixed. 

It was a huge shock then, when the consultant wanted to discuss blood tests and not the preliminary findings of the MRI (his brain was underdeveloped, but not significantly).  She began discussing chromosomes and genes and DNA and I remember her asking if I knew what they were.  Any pieces of information gleamed in my A’ Level biology classes have long since left me and I stared at her blankly as she explained what they were meant to be like and just how different Little H’s were.  All I wanted to know was “What’s wrong with him?”  “What’s it called?”  I knew enough to know that a chromosome abnormality was for life (not just for Christmas, as they say) and that it wasn’t something he would grow out of or be cured of.  You can’t grow out of Downs Syndrome for example.  But I wanted the name of H’s specific abnormality, his syndrome, so I could research it and find out his prognosis.  What is the likelihood he could attend mainstream school for example?  (Genuinely, that was one of my main concerns, at that time I had no idea how severely disabled he would be).  She clutched a piece of paper in her hand, full of squiggles and lines representing H’s chromosomal rearrangement (or translocation if you want the medical terms) and said “This! This is his diagnosis”.

I couldn’t understand why I didn’t have a name; a syndrome I could research.  I spent hour after hour trawling the internet, attempting to diagnose him myself.  I took every word, from every hospital letter and googled them: microcephaly, hypotnia, low tone, coarse features .... What did they all mean?  What syndrome did they all point to?  There MUST be more to it than this collection of numbers and letters and jumbled chromosomes?   

It turned out that even the jumbled up chromosomes themselves couldn’t be classed as a diagnosis because the most detailed testing could find no evidence of missing or duplicated genetic material.  On the face of it Little H should be fine, but because he has such mixed up chromosomes and because he is so severely developmentally delayed the specialist can only assume there is a connection between the two.  It appears he has a very rare chromosome disorder (the only one in the world as far as we know) but they are yet to identify the individual chromosome(s)/gene(s) affected.  He is, therefore, ‘Undiagnosed’.

I had a hard time getting my head around that.  How do you answer that question “what’s wrong with him?” (because people do ask).  How can I explain that the doctors and the specialist don’t know?  How can I explain that we don’t know what the future holds? 

I genuinely never knew that there were other ‘undiagnosed’ children out there.  I thought we were the only ones.  It was terribly isolating and confusing. 

One night, whilst yet again attempting to self diagnose on the internet, I came across someone in a similar position.  Her son had some of the same symptoms as H but was as yet undiagnosed.  She put me in touch with SWAN UK and the rest, as the saying goes, is history.

Through Swan, I realised we were not alone.  There were other children, other families out there, struggling to get a diagnosis for their child.  Some of those children were similar to Little H, many weren’t, but that didn’t matter.  It was reassuring just to realise that we weren’t the only ones floundering around in the dark, rushing from one appointment to the next just to be told ‘we don’t know’.

Through Swan, I have found out more than the doctors could have ever told me.  I have found sources of information and support.  I have discovered therapies and ways of engaging my son.  I have learnt about what we are entitled to and how to fight to get it. 

Through Swan, I have made some wonderful friends, people who know and understand my deepest darkest fears but who also whole heartedly celebrate the small steps and achievements H makes. 

Through Swan I have found an inner strength I didn’t know I possessed; a strength that enables me to fight for all the things my child needs and deserves; a strength that allows me to question and challenge professionals; a strength that has taught me – I am my son’s advocate and I really do know best.  And on the days that strength fails me?  On the days that I feel weak and sad and exhausted and I doubt every decision I make?  Then my friends at Swan UK have helped me through that too, with their kind words and thoughts, with their hugs and prayers. 

It is no exaggeration to say that my Swan UK ‘family’ has made me the person I am today.  I am not sure I would have coped with all this past year has thrown at us without them.

I have begun to accept, and at times embrace, our lack of diagnosis because without one, there can be no certainties: “The majority of children with X syndrome don’t ever walk”  “Children with Y rarely live past ...”  Of course the Consultants and the Specialists can speculate based on past experiences but H likes to play by his own rules and I firmly believe what will be will be.

And no matter what, diagnosed or undiagnosed, with or without a label, he’ll still be my wonderful Little H and I’ll still love him; for a rose by any other name would still smell as sweet.

SWAN UK celebrated it's first birthday on Wednesday 9th May 2012.  You can find out more about Swan and the amazing work Lauren and the team do by clicking on the following links:

Follow on twitter:!/SWAN_UK
Find them on facebook:
And check out their youtube channel:

And just in case you were in any doubt about just how amazing Swan UK are - then watch this video.  About half way through, you might spot a familiar face!!!

Friday, 4 May 2012

Feel Good Friday - 9 weeks and counting!!!

When things regularly go wrong and you feel like you are often taking one step forward and two back, it can be difficult to feel optimistic when things start going well.  It’s not that I don’t appreciate the good times; it’s just that all too often they get snatched away just as we’re starting to celebrate.  It feels safer then not to get too optimistic, not to let myself get too excited or happy because it’s a long long way to fall when our world come crashing down again. 

Sometimes I feel that I might be ‘jinxing’ things too.  When you have so little control over your situation, inevitably I suppose you start to become superstitious.  I touch wood, say ‘please God’ after just about everything and I don’t like to talk about how good things are in case, in some cruel way, fate decides to try and teach me a lesson for daring to get too cocky.  Just look what happened last time: here’s me getting all excited and here’s me getting myhopes dashed spectacularly.  See what I mean?

So, without wishing to piss off fate too much, and without wanting to appear too cocky or get too optimistic or excited, I will share with you some wonderful, amazing, fabulous news. 


Eek – sorry, did I just say that out loud?

Too bloody right I did!!!! I am fit to burst.  I can not express just how excited we are, how wonderful this is and how much our lives have changed in that time.  Dare I say it – we’ve had quite a ‘normal’ family life.  We’ve all been to my mum’s for dinner; we’ve been to two Christenings as a family, we’ve been to the pub together and gone and fed ducks in the park.  All four of us – not just one parent and Cheeky while the other stays at home with H.  All four of us.  Together.  I’ve driven in the car with both boys.  I’ve been to the shops.  I’ve taken the boys to a sensory room – together.  We’ve made plans, sometimes days in advance – something we’d never normally dare do.  Hundreds of every day things that most people take for granted, we’ve not been able to do because the seizure monster has been there, lurking, waiting to bring us down at every opportunity.

But not any more.  H is twelve weeks into the ketogenicdiet.  We seen the neurologist on Thursday and he is delighted with his progress.  If it continues we can start to wean him off the crazy-strong anti-epileptic drugs in six months.

Imagine!  A life without seizures?  It’d be a feel good Friday every day!!!

If Fate or the Mr. Evil Seizure Monster are reading this, I would like to point out that we are still in awe of your power and realise that you could at any time pull the rug out from underneath us.  We appreciate the break you have given us and are in no way over-excited, ecstatic or any other such silly emotions.  We do of course remain ever at your mercy.

Feel Good Friday – is a weekly celebration of the achievements of our Swan Children (Syndromes without a name).  It’s a lovely way to ensure that we always look at the positives, no matter how difficult the week has been.  You can find out more about Swan by visiting their website, finding them on facebook or following on twitter.  Hayley Pelham – whose wonderful idea it was to do this each week – can be found on her blog here or on twitter.

Similarly, Tricky Customer’s Celebrate blogging challenge encourages us to celebrate the good things each week in the rollercoaster world of special needs so I’ll link in to that too.

And rather lazily cunningly I am also linking this post in to the  #definenormal blogging challenge courtesy of the lovely RenataBplus3 from Just bring the chocolate

Now if only I could link it into #specialSaturday too and I’d be on to a winner!!!