“There are known knowns”…

There are known knowns; there are things we know we know. We also know there are known unknowns; that is to say we know there are some things we do not know. But there are also unknown unknowns – the ones we don’t know we don’t know. ” 

Credit: Secretary of Defence Feb 2002 – Donald Rumsfeld 

Why the above quip which I’ve shortened to meet my own needs? Well as a very different Donald (to the tangoed-recently US elected one) said it so well…. I’ll explain further down…. hopefully I’ve peaked your intrigue and you will keep reading! 

Friday 28th April 2017 is a day to celebrate for Undiagnosed Children in association with SWAN UK who fall under the umbrella group of the Genetic Alliance.

Not only is this a fabulous day to celebrate all things unknown, rare, unique and downright puzzling, (with our children, not all the wonders of the world!!)  it’s a day to raise awareness amongst friends, family, professionals in any area of the medical field and wider still. 

Most importantly: our big ambition this year – to raise awareness, provide support and a place to feel at home for all those parents/Carers who are bringing up a child without a medical diagnosis. 

To quote directly from SWAN UK:

Our Big Ambition is that all families who have a child affected by a syndrome without a name get the support they need, when they need it. We want it recognised that being ‘undiagnosed’ is not always a temporary stage; the genetic cause of some conditions may never be known. We want every child and young adult with a syndrome without a name to receive high-quality coordinated care and support both in hospital and at home.

Surprisingly and sadly, there are still families out there who aren’t aware of the invaluable work and support that SWAN UK can offer them. 

In some cases, SWAN UK has literally thrown out a lifeline to desparately tired, lonely, scared and isolated people who feel they have nowhere else to turn. And of note, SWAN UK is the only support group in the UK dedicated to families raising children without a diagnosis – we can offer 24 hour support (give or take) since whilst all our SWAN children have varying difficulties and concerns, a large majority seem to share the view that sleep is the work of the devil so you can often find a parent on line offering or asking for support or just catching up on info they haven’t had time to digest during the day!  

Of course, raising funds to support the emmense work load of SWAN UK is also really important but I’ll get on to that in a bit.

Those of you who have followed my blog for a while will probably be able to quote back many of the statistics I’m about to blurt out; & yes I may have banged on about this one way or another every year for the past few in connection with celebrating Undiagnosed Day (and often times between) but you dear reader, even if you are personally unaffected will likely know a family with an undiagnosed child or will come across one (or more!) in the future. 

Just maybe you can be the one to offer someone out there light in the darkness and point them in the right direction to access the crucial support and signposting they need and deserve, particularly in the early days of their journey be that before birth when pre-natal scans pick up on possible genetic issues, those early days post birth when it becomes obvious that something is not quite right with their much longed for, hugely anticipated tiny baby or as in other cases when a seemingly typically developing child begins to fall behind their peers or shows regressive behaviour.  

From personal experience I know how tumultuous those feelings can be; how overwhelming. Just like the (approximately) 6000 children born in the U.K. each year, our daughter has a Syndrome Without A Name. 

My little Minx (not so little now, a whole 8 years old!) was born almost at term and despite a complicated pregnancy, seemed utterly perfect to us in every way. She passed her paediatric discharge – if awards were given, hers would have been gold (proudly boasting mother) but she really was the cherry on top of our cake. 

A little girl after our amazing 3 boys (not one of which we would have changed at all; we were never “trying” for a girl and personally, unless there is a very good genetic reason for sex selection, it’s a step too far for me) but it was so exciting to experience, even from the very first day, the differences of having a bundle of the female persuasion – nappy changing = no peeing in the eye moments as my dear boys got me so many times over the years for a start… although cleaning poop out the girly bits was…. daunting…. I’ll stop there rather than make anyone think too vividly. 

Our first few weeks in amongst the haze of feeding, washing, attempting to sleep when the baby slept – (i.e. never) and generally fight our way through the sea of all things pink that friends & family far and wide sent to us (yes I know it’s a stereotype and girls, for that matter boys, can wear any colour but did you really think with Minx being the first great/gran/daughter after 3 boys she wasn’t going to be in dresses and frills and shades of pale pink, lilac and basically looking like an explosion in a pink workshop?!) 

However, as a 4th time Mum I had a serious case of “the niggles” even in the very early days of the Minx having been brought home….she cried virtually constantly (but not like a collicy baby, I’d had 2 of those) she started feeding well but would then cough, choke, delatch and occasionally snort milk out of her nose (very different to her greedy brothers who had trouble latching initially but would soon settle into rhythmical suckling until they had refuelled) and she held her head/neck/arms so awkwardly.

I’ll spare you the VERY long story that brought me to this part of our journey as best I can (if you would like to, you can read some of my earlier blog posts and discover more about our journey to date).

Suffice to say mother’s intuition is a powerful thing and over the years we have collected a myriad of teams, specialists, equipment and partial labels to encapture Minx’s difficulties but like that dastardly elusive last piece of the jigsaw puzzle, we don’t have the complete picture. In fact as it stands at the moment we don’t even have the picture on the box – frustrating & like working in the dark. 

I can give you some examples of her varying issues:

  1. Upper limb arthrogryposis
  2. Lower limb hypermobility
  3. Blood sugar instability
  4. Possible growth issues
  5. Gastro esophogeal reflux disease
  6. Dysmotility of the entire gut/colon/bowel
  7. Low heart rate when sleeping
  8. Pain (in the gut & bowel
  9. Chronic constipation requiring stoma use to manage
  10. Congenital myopathy
  11. Neurogenic issues
  12. Severe feeding difficulties necessitating gastrostomy feeding tube to give specialised milk during the day & overnight
  13. Swallowing difficulties
  14. Muscle weakness and fatigue
  15. Food allergies….

Have I forgotten anything? More than likely! We see that many specialists and consultants in 3 different hospitals and use multiple pieces of medical equipment, aides, pharmaceuticals and so on; sometimes it’s hard to keep track!

Minx has a wheelchair, a stair lift and  bath lift for when she’s too tired/unable to get in/up/out or mobilise for herself. And who could forget the amazing self-cleaning toilet with padded seat and washer/dryer function, complete with arm rests, feet support and a medical pillow for comfort whilst “performing”. Honestly, it truly is a marvel to behold… and I’m told in Japan, it’s particularly de rigeur to own a similar commode, albeit not usually for medical purposes.

So back to Donald Rumsfeld’s now infamous quote, which yes, I’ll admit I have chopped up a bit to suit my own purposes, there are lots of things we know about the Minx but there are equally lots of things that we know we don’t know. The unknown unknowns if you will.

So many of her issues fit neatly together and others frustratingly don’t. As has been much muttered by her neuromuscular consult (complete with wringing of hands) “but we just don’t SEE this presentation of neurogenic and myopathic symptoms and difficulties”

Except of course you do, because Minx presents with them. So it’s back to the drawing board, tearing up the medical text books and much head scratching – although these days it’s a bit more technical than that and there are some fantastic genetic studies that we have been invited to take part in. Largely, down to information provided by SWAN UK, I knew which ones might help us get some answers and who to approach to see if we could get on to them too. If you want, you can learn more here: https://www.ddduk.org 

Also: the 100,000 genome project https://www.genomicsengland.co.uk/the-100000-genomes-project/

Minx has been tested over the years for various myasthenia genes, myopathies and so on but the above 2 studies give us our best shot of learning what Minx’s overall condition is. 

To some extent, it’s unlikely that having a formal diagnosis will change much in terms of treating Amelia and her difficulties. Unless it’s something that a very specific medication or therapy can improve, then it’s extremely unlikely that what she has is curable – in our life time and maybe even hers. But it does give hope for the future, for gene therapy, for others following our pathway and for siblings to make informed choices in deciding whether they want to know if they are carriers or affected by the particular genetic fault. It offers hope, choices, plans and preparation. Maybe far off for now but gaining ground every day. 

It should be noted that our family wouldn’t change a thing about our feisty little Minx (except maybe her stealing my MAC lip gloss & suede boots) Whilst we all wish she didn’t have pain, surgeries, physical weakness and so on, some of those exact difficulties have helped shape the amazing, bright, sparky and self assured young lady she is becoming, not to mention the dab hand she is becoming on using technology to help her in every day life – I-pads, tablets, lap tops and PC’s are increasingly being utilised to assist her at school and in daily life. 

Maybe my point about not changing her sounds odd? Most assuredly, I wish she and many of her SWAN UK comrades didn’t have to go through the dark, trying, and in too many cases, tragic outcomes I have witnessed over the years. 

There is something fundamentally, inherently wrong about a parent out living their child. It is not the natural order or design of this world and is beyond cruel to far too many of my contemporaries, friends, people I have formed and shared extra special bonds with over the years. Some I have only ever had the pleasure of meeting virtually through our SWAN UK on line community, others at the plethora of events that SWAN UK hold every year to give a glow to our special needs kids, their oft neglected siblings and exhausted but exultant parents who meet for regular coffees or stay and play type events. https://m.facebook.com/SWANchildrenUK/ 

Please do go and have a look at our website for more info about the group and what we can offer https://www.undiagnosed.org.uk/about-us/

So what can you personally do you may wander? Well, you could share this blog post on various forms of social media, change your profile picture like I have done to raise awareness of SWAN UK and Undiagnosed Children’s Day – I’m happy for my profile picture to be shared but please check with other people before sharing their stories or pics. Get tweeting far and wide – celebs, politicians, the rich and famous to raise awareness (and maybe even ask them ever so cheekily for some cold hard cash!) 

Get Undiagnosed Day trending (I’ll pretend I vaguely understand all these terms in connection with social media) because I know that one is important on twitter but I’m not too hot on all things tech. To those of you who are, I salute you – help this Luddite out and get sharing far and wide.

As well as raising awareness, WE WANT YOUR MONEY!! 

For more info, ways to donate etc go to the SWAN UK page or public face book page. You can donate via text/post/online or even fund raise for us directly! 

If you would like to make a one off donation you can also do this via Just Giving or Virgin Money Giving or text SWAN11 plus the amount (up to £10) to 70070

Online Donations You can donate through our page on Virgin Giving or Just Giving. If you are a UK tax payer don’t forget to tick ‘Gift Aid’ as this scheme allows us to claim tax back on your donation, making every £1 you donate worth £1.25.

Little heroes can fulfill big dreams and ambitions with your support! 

Thank you 😘

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Once Upon a Time….

IMG_0186Let me tell you a story. Are you sitting comfortable? Then I’ll begin…

Once upon a time there was a (relatively) normal family. Let’s call them the Jones’s, although I don’t think may people will be aiming to “keep up with the Jones’s”  once they have read this. In fact perhaps, it’s more a nightmare, horror type story rather than a settle-you-off-to-sleep bed time type of thing?

So the Jones’s live in a lovely but ordinary house in an ordinary part of the world and are distinctly unremarkable. Perhaps they break slightly away from the norm in that instead of the requisite 2.4 children per family, they have 4 (these days I hear that 3 is the new 2.4 anyway).

Not only do they have 4 children of varying ages but they in fact have 3 with special needs. In spite of some trials and tribulations along the way and more than a few bumps in the road over recent years, the Jones family are a happy bunch, very grateful for what they have and definitely appreciative of all the best things in life. They closely adhere to my own motto: the glass is half full – therefore more room for wine!

Nonetheless, at times things have been a bit sticky and the Jones family have often wondered whether they accidentally broke a lot of mirrors, spilt salt or walked under too many ladders for the gods of luck and chance to ignore. Perhaps they had poked the evil eye with a very sharp stick?!

When you have one child with a medical/phsyical or cognitive difficulties it can be tricky for the whole family. Add in 3, top that with children who don’t fit nicely into a tick box, one size fits all diagnosis, it becomes like doing a rubix cube – & Mrs Jones would freely admit that the only way she ever successfully completed one of those was by peeling the stickers off and rearranging them to fit the colour order…

However, the Jones’s have an extra dirty little secret;  it shouldn’t be such a stigma but it still is, even in this day and age:  one of their children has a significant mental health issue triggered by his diagnosis of autism spectrum disorder (ASD)  – aspergers with sensory processing disorder.

Since Christmas last year, the Jones have witnessed a steady decline in their son’s mental health. He has become increasingly unhappy, rebellious, not eating or sleeping well, absenting from class, leaving home, even jumping off the first floor roof in the middle of the night and self harming frequently. The Jones’s have had to call the police on more than one occasion to enlist their help in finding their son and getting him safely home.

The Jones’s suspect that the combination of puberty, hormones and aspergers plus main stream secondary school education is over-whelming for their son. School, to their credit, have been on board and supportive, despite what must be a very frustrating and difficult time for them too, especially considering the sheer volume of pupils in the school. The Jones boy –  we’ll call him James – has a cracking sense of humour when on top form but can be exhausting in the extreme, demanding of time, attention and support, and exhibit behaviour not dissimilar to that of a tantrum-ing toddler, only with a much more inventive vocabulary!!

One of the problems with a main stream school is that unless the teachers themselves decide to read up in their “free” time on subjects like autism, they will have had the very bare minimum input and training for special needs children. In spite of the huge rise in cases of autism being diagnosed, trainee teachers are given a mere glance at the SEN world and may encounter their first autistic child when he/she presents in the classroom as disruptive, disobedient, likely  in their mind set, a right little sh*t, a product of questionable parenting. You might want to take a look at the vey interesting article: http://www.autism.org.uk/get-involved/media-centre/news/2016-03-21-teacher-training.aspx

Anyone who has dealt with a high functioning autistic adult or child will be familiar with the rigidity of mind set and literal thinking that encapsulates ASD. Over the years Mrs J has been on the brunt of many a sharply retorted, brusk response that wasn’t quite in keeping with her expectations. She has learned not to use phrases such as “Would you like to help me unload the dishwasher/tidy your room etc?” She will be met with a re-sounding “NO!!”

To neuro-typical persons, (as those with aspergers or aspies like to call us) this response is cheeky, rude and impudent in the extreme;  que explosion from Mrs J, meltdown from James and all hell breaking loose Chez Jones. In the world of ASD however, Mrs J has merely worded the question wrongly and it’s taken quite a long time for her and the rest of the family to adjust their ways and rethink what they are ultimately trying to achieve.

If Mrs J was to turn to her son and phrase her request in a far less excruciatingly polite British fashion “Please can you help me unload the dishwasher,” she might have been met with a grumble or two but ultimately, James’s reply would generally have been far more acquiescent. You see, those with ASD hear the word “LIKE” in the request and assume it literally and therefore that they have an option in the matter. When you are cognisant of how important your phrasing is, you will realise those with ASD are merely being honest in telling you, no they would NOT LIKE to do the aforementioned chores.

It is perhaps something James’s maths teacher could have done well to remember. James came home from school only recently telling his parents he no longer needed to attend maths classes and what great news this was! Suspecting that somewhere along the lines, things might have been lost in translation, Mr and Mrs Jones quizzed him further.

It turns out that James’s maths teacher had told him, he didn’t care whether or not James attended his lesson since it was ultimately wasting his own time and the teacher would teach the rest of the class come what may. Not quite the you don’t need to come any more that James interpreted.

Similarly,  the cookery teacher having told James to bring in ingredients to make a sandwich that he would eat. Since James doesn’t eat sandwiches in any shape or form, he was not to be persuaded that he needed to take in balanced portions of protein, carbs, etc etc. In his view, he didn’t need to take in anything and it didn’t apply to him. Mrs Jones tried to reason with him and explain what the teacher had really meant but James had clearly heard the teachers instruction and was not to be dissuaded. James’s sense of injustice at the detention that followed was magnitude and I can’t say I blame him really.

Of course it goes without saying that meeting one person with autism doesn’t mean you have met them all; very far from it but there are key, recognised difficulties that cause a variety of difficulties for those with such a diagnosis.  Although those of us who are neurotypical can struggle to understand and see things from the point of view of someone on the spectrum, imagine how much more difficult it must be to live in a world that favours the neurotypical? Since ASD is a social communication disorder, body language, facial expressions, tones of voice, nuances and social niceties are things that often go over the heads of those individuals with aspergers and the like.

Additionally, sensory issues are extremely common for those on the spectrum. Noise, colours, lights, the environment, textures, tastes and smells can all be much more vivid or paradoxically dimmed necessitating those experiencing difficulties to crave further or seek to repress the influx and assaults on their sense.

James needs high and intense stimulation in most areas. He has always liked to push himself to extremes. Many a time the rest of the Jones family have looked on in horror as James scuttles up the nearest tree, climbing to the highest, most unstable branch, calling triumphantly from the top.

The faster, higher more exhilarating the roller coaster, the more James wants to ride it. Which likely explains why in younger years Mrs Jones found herself riding, unaccompanied, the most vomit inducing rides known to man. James having queued only to be disappointed and turned away from the ride due to his lack of height would beg and plead a reluctant parent to go on his behalf and feed back on the ride experience. Mr Jones would sensibly plead a bad back and leave Mrs J to take one for the team as it were….

In the winter James likes to sleep with PJ’s, a onesie, fluffy slipper socks, woolly hat and cocooned in  the highest tog duvet that can be found. Squished in like a sausage roll, surrounded by teddies and all things fluffy is his happy place. Little changes in the summer and it’s rare to see James without his trade mark hoody, firmly pulled over his head. Shorts are greeted with a look of disgust even if the fickle British summer busts the 30 degrees C mark (that’s 86 F my US friends.)

Noise is a problem. On his terms, James loves his music loud and pulsating. The Jones house reverberates with Back In Black and similar on a regular basis but James cannot tolerate his younger siblings playing or crying. Noises like the water heater springing to life, the background hum of a restaurant or kitchens in the distance, seem physically painful to him.

As for food. Mrs Jones will roll her eyes at you and clutch her hands to her head woebegone. It is a well known fact that children can be notoriously fussy but it is well documented that those with ASD find food particularly challenging. It presents numerous sensory issues – from texture, shape, size and smell. James can’t sit at a table with cheese, his food can’t touch any other item on a plate, his toast – plain, no topping, cannot be cut in half with a knife that has so much as touched anything else and the thing that was his most favourite thing EVER, that Mrs J bulk bought in a fit of jubilation will be consigned to the back of the cupboard only days later with rallying shrieks of disgust and a hearty “I HAVE NEVER EATEN THAT SO WHY DID YOU BUY IT!!!!” tirade. Unless of course it’s tomato ketchup, in which case, only the most expensive brand that will do, splodged liberally over everything and anything….it may be that Mrs Jones has found that a certain supermarket rhyming with ‘piddle’ do a brand that is just as good and as long as she decants  it in to the pricier named brand bottle without anyone seeing, nobody knows, but that would be telling.

So where does this leave the Jones family right now? Well they remain on quite a learning curve since their son was only formally diagnosed 3 years ago despite frequent presentations from the age of 4 to the Gp, Health visitor and eventually a CAMHS (Children and adolescent mental health) referral  requesting help, detailing their son’s extreme behaviours, anger, aggression, rigidity of thinking. It took from the age of 4 to almost 11 to get the diagnosis despite what in hindsight appear to be a glaringly obvious, one could say neon sign pointing to ASD.

Whilst the Jones’s would agree that labelling a child unnecessarily is never a good thing, it left them wondering in the wilderness feeling like terrible parents for far too many years. It dented their confidence and self belief and did unquestionable damage to their other children who were both witness and victim of their siblings extreme behaviours.

And yet, even now, with a diagnosis on board, the Jones family find themselves once again in a time of crisis. Where James’s self harm and suicidal tendencies, his violence, aggression and extreme mood swings are wreaking their chaos on the family as a whole. It’s devastating to see their child experience this; to watch him helpless in the grip of the disorder that causes such extreme anxiety and stress. He is convinced that he is fat, ugly, worthless and useless; that he has no redeeming qualities and is stupid, unteachable, unreachable.

He is none of these things but cannot see other. He cannot find a way through. In his darker moments, he really does want to end it all and terrifyingly in the moment is unable to see any other way out. His parents want to simultaneously hug him so tight they will never let go and yet shake him to wake up and fight. They also feel guilt that they sometimes intensely dislike the havoc that is being wreaked on them, their other children, their home. It was bad enough when unidentified numbers only meant calls from hospitals or consultants, now  seeing  No Caller ID flash up on their mobiles often heralds a phone call from school detailing that James has gone awol, insulted a teacher or got into a fight.

The Jones’s were forced to admit their son to hospital recently following a profound escalation in his risky behaviours and concerns that they were unable to keep him or their other children safe. Multiple agencies are involved in trying to support the Jones family and CAMHS wanted to help, they really did. But the family had presented at 10am on a Thursday night to A&E and CAMHS work 9-5 Monday to Friday.

At the mercy of numerous professionals the Jones prepare to keep fighting the good fight. Surely with a diagnosis on board, accessing support will be so much easier than dealing with their other conundrum children who remain undiagnosed? And there’s the rub – government funding and cut backs to mental health services in the UK are well known and so the whole process is just as daunting, just as lacking in cohesion and perhaps even just as time consuming from a co-ordinated care approach?

Mental health services for children and young people in England were cut by £35million last year, whilst mental health beds have been reduced by 8 per cent since 2010. (Source: The Independent, January 2016)

34 out of 51 (Two-thirds) of local authorities in England have reduced their CAMHS budget since 2010. One council reported to YoungMinds a drop of 41% in their CAMHS budget from 2010. 

YoungMinds are the UK’s leading charity committed to improving the emotional wellbeing and mental health of children and young people. They campaign, research and influence policy and practice as well as providing expert knowledge to professionals, parents and young people. For more info:  http://www.youngminds.org.uk/about/what_we_do

So where are the Jones family now? Despite James stating quite clearly that he fully intended to try and take his life again, that he could see no reason for living, Mrs James was told that the paediatric ward was not the right place for him, that there were no inpatient beds unless to quote “he was dying of an eating disorder or in the hold of a psychotic episode”.

School have been crying out for more advice, more planning, more assistance going forward. They too have to examine the purse strings, magic up funds and resources to keep James safe and in statutory education until the lengthy process of an Education & Health Care plan, which there are no guarantee James will qualify for, have been decided.

The Children’s Prevention Team want to help but they need more information from CAMHS who need more information from school who need more information from CAMHS who need input from Children’s Services and Social Services. And then there’s the paperwork. This family in time of dire need and desperate help: well they can’t get that till the paperworks done so round and round it goes. It would almost be funny if it wasn’t so serious. Will the Jones family story end with “and they all lived happily ever after?” I really don’t know….