Tonight Matthew I’m going to be……

An adult!

Strictly speaking I ‘adult’ every day, albeit some days more successfully than others.

Yesterday however, I ‘adulted’ myself to the nines.

So that you can feel comfortable continuing to read and for the avoidance of any misunderstandings, I should reassure you that this post is perfectly respectable and I won’t be revealing anything x-rated or of a delicate nature. You can all breathe a sigh of relief and resist the notion of poking out your own eye-balls/resorting to mind bleach for fear of dodgy pictures and such like!

I don’t know about you dear reader but the majority of the time I don’t feel old enough, responsible enough or even qualified enough to do the “adulting” parts of life. Certainly not with success and authenticity in any event.

Apparently however, being married having children, dog ownership (he might dispute that as pretty sure Milo thinks he owns me) a mortgage and all the other infinitesimal accoutrements of life plus being over a certain age means I automatically qualify as an adult… and there’s no resignation option (well unless you ‘check out’ entirely but that’s generally speaking a bit drastic)

Over the last year particularly, “adulting” has been a part of my life I’d quite like to have run away from.

Somehow wherever I hide, no matter how precisely I have chosen the deepest, darkest recess or how carefully I stick my fingers in my ears and shout la-la-la, the necessity for “adulting” always has a way of finding me….darn it.

And even before last years ‘annus horribilis’ I must confess that I had very often felt like a player in that game “Hedbandz” rather than a real adult.

For the uninitiated, the game compromises of a plastic head band device with a slot in which you stick a card in which states the object/word/profession and the wearer has to ask a series of questions to try & work out what or who they are.

For added ‘fun’ you can do a timed session so they have to guess in a specific time period or a specific number of questions. Adding alcohol into the equation for the ‘Adulty’ version I’m sure can only enhance the fun 🙄 But never in a million years would any card ever depict me as an adult; in fact I think I’m possibly only marginally up from a lemming….

Anyway, what I mean by my ramblings above is, in theory I suppose I should know I’m an adult but the actuality is very different and frankly I really don’t feel I’m quite mature enough to make life or death (somewhat over dramatic!) decisions on a day to day basis when I can barely decide what to cook for dinner!

So now I’ve long-windedly explained that, I’ll get to why I ‘adulted’ properly yesterday.

For those of you who have followed my blog for a while or who know me in the ‘real world’ you are probably familiar with my involvement in SWAN UK.

SWAN stands for syndromes without a name and it is the only specialist support network in the UK dedicated to families of children and young people affected by a syndrome without a name.

Having 2 children who are classified as SWANS – they are both medically complex and although they have multiple diagnosed difficulties/needs, we don’t have an over-arching diagnosis that draws everything together – getting support from SWAN UK over 5 years ago made a huge difference to myself and the whole family. In fact, if we had not joined SWAN UK (its free!) we would have had no idea where to even begin to think of living when we moved to the UK some 4 years ago.

Mr Def Not The W’s was allocated Leeds as a base when he joined his new airline but we knew nothing about the area, about hospitals, schools, housing and services and so it was to my trusty network of online friends that I turned to to seek advice and guidance in helping us formulate a plan.

Of course SWAN UK’s services go far beyond the things I mention above. You can read more about the vital support they provide here:

Over the years, the advice, reassurance, sense of belonging and community not to mention the family days out, coffee mornings and get togethers have been a huge source of comfort, support and a wealth of experience for me.

Back in 2013 it became apparent that holding down a job, even working from home as I had done since 2008, in a role that I could fit around my children, was no longer viable.

I eventually found that in order to keep on top of work I was in a seemingly endless cycle of being up very early, going to bed very late and working all the hours in between that weren’t occupied with the needs of the family including weekends. Something had to give. It was *almost* my sanity.

Although I don’t miss the crazy relentlessness of those days and we are fortunate in that we can (just about) manage for me not to work (and are hugely grateful at times to our parents for stepping in when an unexpected bill/costs rears their ugly head) I do miss that feeling of achievement and accomplishment.

So in September 2015 I decided I would like to try and do something useful with my life and if possible, give a little something back.

I recognised that combining this with (at the time) 3 children with extra needs was going to potentially be problematic. (Turns out we now have 4 children with additional needs, although our eldest is almost 18 and would revolt against the use of the word child!)

I decided to volunteer to be a SWAN UK parent representative for North Yorkshire…. if they would have me! And they did.

In fact, this was absolutely perfect because recognising that caring for medically/physically and or cognitively complicated children can mean life doesn’t follow the best, most carefully laid plans, SWAN UK are happy for parent representatives to volunteer as much or as little of our time as we are able to give. They also understand that sometimes we have to drop everything with little to no notice and have always made it clear that the needs/demands of our children, wider family and ourselves are paramount.

Over the years of being a SWAN UK parent representative, I have spoken at a Rare Disease conference about my experience of being a parent of undiagnosed children; I have contacted my MP about being part of an APPG (all party parliamentary group) to discuss and raise awareness of being undiagnosed and the implications that has on families as a whole, not just the affected individual. I have visited Parliament and spoken to a wide variety of professionals about the difficulties of living with the unknown and unexpected as well as assisted in organising days out to celebrate Undiagnosed Children’s Day (last Friday in every April) arranged coffee mornings and fund-raising events.

I don’t want to come across as holier than thou but aside from (hopefully) raising awareness and sign posting SWAN UK, it did make me feel useful and purposeful again.

It gave me an opportunity to step outside the role of parenting my own children’s medical management and hopefully gave a voice to others in a similar situation.

Anyway back to the reason behind the recent adulting: after something of a hiatus in 2017, I attended a professionals meeting at our local hospital.

Having contacted the Harrogate and District Hospital administrative team (via FB messenger no less!) I pretty much threw myself on their mercy. They kindly directed me to the Head of Paediatric Nursing and The Head of Paediatrics and we set up an appointment Gulp.😳

The fact that the head of paediatrics is also my children’s consultant was not lost on me and was more than slightly daunting.

Somehow, seeing me in a different role to G Man or Minx’s Mum felt strangely discombobulating; at least in the run up to the meeting itself and I was plagued with disconcerting dreams that I would somehow disgrace both myself and SWAN UK.

Nonetheless, I asked SWAN HQ to send me some literature and armed with this, my trusty, very bright pink SWAN UK bag, business cards (get me! I’m posh!!) and a lanyard, I put my big girl pants on (erm figuratively you understand, I haven’t gone totally Bridget Jones yet) and my “grown up” clothes on.

Being only 5ft almost 3 inches, adulting clothes usually involve heels for me. Fretting that I didn’t want to look like I was trying too hard or heading out for a slap up meal, I opted for heeled boots, a patterned skirt & top, with a bit of jewellery and a swish of eyeliner & lippy.

On the inside I may have felt about 5 and was quaking like a jelly but externally I *hopefully* projected confidant, knowledgeable and approachable….

Obviously I couldn’t really ask those present at the meeting if I had successfully captured that but my audience were enthusiastic and receptive. They were keen to read and then display the literature I provided and told me that they would be disseminating the information to fellow colleagues, the Paediatric ward, Child Development Centre, Parents Room and Paediatric clinics. I also got agreement to have a stand in the foyer of the hospital to coincide with Undiagnosed Children’s Day in April. So all in all, I think it went well.

I came away feeling positive and uplifted and like a real-life proper grown up for the first time in a very long time. I’m pretty sure I didn’t have my skirt tucked into my knickers at any point or commit any other embarrassing epic social faux pas’s so all in all winner winner… I hope…. 😊


“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: 

Also: the 100,000 genome 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. 

Please do go and have a look at our website for more info about the group and what we can offer

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 😘

Caffeine, compassion & the crazy jigsaw lady…

I am the one in 4. That is the statistic (currently) for those who will experience a mental health crisis at some point during their life time.

I am in a place of safety & being well looked after by caring, compassionate & dedicated staff; & let’s not forget my fellow ‘inmates’ as I affectionately think of us.

It is a strange twilight sort of existence. By day 2 in “The Big Bother House” I railed at the staff: “I don’t know what’s expected of me! I don’t know what you NEED me to do!!” They smiled kindly & sympathetically, patently having been asked the same question many times over & their answer was ‘we expect nothing.”  And that’s just it; there aren’t prizes for perfection, goals here are very different & to utterly bastardise a well known phrase to fit my purpose: one small step for man is one great leap for mankind…or something. 

Just being in the moment is enough. An achievement might be as simple as eating a communal meal or a walk in the garden. 

Get yourself showered in the morning or don’t, get dressed or stay in your pj’s. Eat toast or biscuits, do something involving exercise, (horrific!) attend group therapy or make a gazillion things out of cards/paper/sparkles (but don’t expect to keep custody of the scissors). No one judges. 

The lack of hooks for towels, hangers, door handles anything with sharp edges & 15 minute observations that the staff try to carry out as an unobtrusively as possible are noticeable but not bothersome. I’m slightly less keen on having to request my razor from its storage box in the staff room every other day to avoid my yeti impression but it’s not a deal breaker (yet). 

Every day life carries on distantly around me. I’m peripherally aware of meetings, emails, phone calls & my loved ones holding the fort for which I’m unspeakably grateful but in a very laissez faire manner. That might be the drugs talking…. I have some very good ones on board that leave me alternatively slightly floaty or very zen. There’s stuff to help you sleep, stuff to chill you out, stuff to lift the mood or in the case of some fellow inmates stuff to bring them the f*ck back down to earth… I’m in here with a former governor of the  Bank of England, someone married to a Hollywood producer & someone whose met the Dalia Lama. Is it true? I have no idea; nor frankly do I care. 

Of course it’s not all drugs, there are therapies, both group & 1:1, relaxation groups, challenge sessions & even a weekly massage. There’s a local indoor heated pool at a nearby hotel & a gym for those so inclined. A particularly good friend whose known me for umpteen years & then some joked I’ll do anything to get a spa weekend…. 

We are all here fighting our various personal demons and wrestling our consciousness. Sometimes I feel like Sisyphus & the stone on my back & the drop down that hill is a long way to fall, crushed under rolling rock.

My feet of clay, the toppling off my pedestal lies firmly at the hands of the various ‘support’ services who essentially told me to suck it up butter cup & jolly well keep coping, despite my desperate pleas that I was failing due to exhaustion and fatigue. I’m not going into that further because legally there are many issues that need to be addressed. 

Although I still feel shaken to my very core, weak, feeble & ashamed of my self indulgence,  I am lifted by my fellow warriors, sharing their biscuits, proffering cups of tea & joining me (the crazy lady in the corner snuggled in my dressing gown) doing endless jigsaws.  

Just don’t take away my coffee machine or then I might really go batsh*t crazy….