Shoulda, woulda, coulda…..

I’m not often given to introspection or too much dwelling on the past; after all, it rarely helps in changing anything going forward and dredges up old emotions and difficulties that you can’t fix. Indeed, as my Father is so fond of saying “If your Aunty had bo**ocks, she would be your Uncle!  (so couth, you can tell where I get my social graces from can’t you?!)

Don’t get me wrong, I’m rather partial to the fond memories of yester- year and have (very!) rose tinted views of those halcyon days of early child rearing.  In fact, I must be more than fond, some would say questionably insane and definitely have done more than reflecting on memories since I ended up with 4 of the now not so little blighters but generally speaking, I am much more about the present and the future. Of course there are lessons we can learn from our past. History tells us that often enough right? (although judging by the current state of world affairs, I’m not so sure what we learned but this isn’t a political piece so I will move swiftly on.)

So, why the title of this blog? Well, I’ll get to that properly in a minute but first let me explain that, 29th April 2016 sees the annual celebration of Undiagnosed Children’s Day – an event that is hugely important to families like mine because it gives us the opportunity to come together, support each other and know that we have something unique to celebrate – our uniqueness is flipping awesome!!

In a world defined by labels,  especially where special needs, medical issues/conditions are concerned, in a myriad of coloured badges, ribbons, stickers, plastic bracelets, just giving pages etc etc, we too have a specific day to raise awareness, feel the love and hopefully share some of the important info we have all learned over the years, which might, just might, prevent another parent or carer feeling alone and isolated; a space truly  dedicated to those who don’t have a diagnosis.

Back in January a group of SWAN UK  (SWAN UK: Home)  bloggers got together to focus on this years Undiagnosed Awareness Day and some of the key points that we as parent- carers would like to get across to the world at large about why it’s so important to spread the word and ensure that all those in need of support find their way to us. Aside from a weekend of laughter, giggles, and perhaps more than the occasional glug of pinot grigio (strictly post workshop you understand!) there were many, many issues that came to light.

In spite of it being the year 2016 and the huge advances in medical science and technology,  we know that approximately 6000 children are born EVERY YEAR without a name for the medical issues and difficulties that they face. One in 25 children is born with a genetic condition and based on current data, 50% of children undergoing genetic testing through the NHS won’t get a diagnosis!  Scary reading isn’t it? Even more scary being a part of that statistic but regular readers of my blogDefinitely Not The Walton’s…. | The Life & Crimes of a …will know that we have 2 children with what is felt to be an undiagnosed genetic condition.

Our youngest children are 9 and 7 respectively but our journey on the undiagnosed path only began shortly after the birth of our youngest child and it leads me back succinctly to the title of this piece. Over the years, and most particularly in the early days of learning that we had a physically and medically complicated child, there are so many things that would have been helpful to know; so many things that I wish someone had taken the time to explain to me, not least of which that actually answers wouldn’t be forthcoming just like that and that 7 years into our journey of riddles, we would not necessarily be any closer to unravelling the mystery. That at times, the plot would actually thicken!

The Minx in particular is a conundrum most contraire (entirely reflected in her personality too!) Her response to specific investigations to define whether her overall condition is  muscle related or nerve related (albeit with some interaction from both) have repeatedly come back as inconclusive. Frustratingly, more than one of her consultants has admitted that clinically they don’t see children in the pattern she presents with – technically the results produced don’t happen or are more clear cut – not in the Minx’s case naturally!

Normally such investigations define whether the problem is nerve OR muscle based but in Minx’s case, neither can be ruled in or out since aspects from each are prevalent and not in a helpful, lets pin this down kind of a way.

7 years of looking at specific genes for myasthenia, nearly 3 years being on the DDD study  Deciphering Developmental Disorders (DDD) project … and almost 6 months under the Genomics England | 100,000 Genomes Project we are still waiting for that elusive diagnosis and who knows if we will ever get one.

Perhaps more importantly, will we get one that means anything? Despite the rapid advances in genetics, many parents are still only receiving a bunch of numbers and letters, detailing duplications/mutations or missing links and these being  so rare in themselves, tell them nothing about what to hope for in their child’s future or how/if any future children they may go on to have will be affected. Whilst we have definitely closed the door (what do you mean after the horse has bolted?!) on that particular matter, I still couldn’t answer when my 16 year old asked if any future children he may have will be affected.

So if I could go back to the me of old, at the start of this phase in her life, mother of a newborn, beautiful baby girl, I would reassure her that actually, even 7 years after being on this undiagnosed journey, she would still have her marbles  (as much as any 30 year old  +10+1 mother of 4 can have anyway) that she would hold it together most of the time (see earlier comment in brackets!)  and that nothing she did/didn’t do was to blame, not even that rogue glass of wine or piece of brie that crept in somewhere along the line during the early days of unknown pregnancy.

I would give that woman a hug and tell her she would find a way through those early days of painful physiotherapy, 3 times a day doing stretches, 3 times a week at the child development centre with a distressed toddler screeching his accompanying woes to the cacophony of crying. I would show her that the all physiotherapy would produce a strongly independent child who can hold a pen, draw, colour and write beautifully in joined up hand writing no less.

I would tell her to ignore the off the cuff remark from some ‘helpful’ consultant  about the possibility of her child never walking – after all if they can’t tell me what’s ‘wrong’ with my daughter, how can they tell me what’s right? A far too simplistic view of course but you get the gist.

I would let her see those days of feeding difficulties that resulted in 6 different meals being prepared in the desperate hope that she would eat something, ANYTHING (even a cheesy wotsit) would result in a self assured little girl who despite not managing much in volume from oral consumption, would have a palette far superior to her typical kids who would happily survive on a diet of pasta and pizza. Present the Minx with a plate of smoked salmon, coleslaw, olives, Bruschetta, salad, you name it really, she would tuck in with gusto. At the very least if she is having an off day and food is a total no-no, that her feeding tube, specialist milk and pump will sustain her.

Perhaps most importantly I would show her that she would draw on reserves of strength that she never knew she had. That she would stand up to Doctors and consultants and nurses who thought they knew better but woe betide you confront or ignore a mother preparing to support her child in times of medical need. You may have the letters after your name, the fancy certificates, diplomas and steady surgical hand but I, I have my child’s utmost well-being, heart and soul to think of and in that, other than my child herself, I rule supreme. I really hope in reading this that it comes across as intended, not as some arrogant, bigwig, thinking I know more than the medical teams, but that I understand my daughter and her needs better than anyone else. My future self would probably also tell me right now to stop justifying what I mean 🙂

One of the other essentially vital things I would have done differently in those early days of isolation and fear, worry and struggling to find a place where we would fit in, would be to have directed that me to SWAN UK.  http://undiagnosed.org.uk/undiagnosed-childrens-day-2016

Instead of 4 years gadding about in the no-man’s land of the undiagnosed, I could have been part of a fantastic, amazing, inspirational support group of parents who would have scooped me up, drawn me in and given me a place to belong. That me would have relished the feeling of being ‘home’ in spite of the unknown, knowing someone would be there to answer my random worries in the middle of the night when swans like to cause mischief and fight sleep (no cleaning the cat litter box out did NOT cause Minx and G-Man’s issues!)

So now, this me, wants to help other parents, wrap them in the warm blanket of understanding and support and light the way to SWAN UK. You, Dear Reader, can help to. How? Please donate whatever you can to SWAN UK’s: Just Giving page or  Virgin Money Giving page.

You can see our fabulous SWAN UK Lauren Roberts achieve a child hood ambition by taking a dunk in a bath of beans: http://www.justgiving.com/BeanGate

You can learn more about SWAN UK and the marvellous work they do: What does SWAN / being undiagnosed mean? | SWAN UK

Oh and you can also share my blog piece and visit my FB page: Definitely Not The Waltons – Facebookhttp://www.facebook.com › Other

Thank you 🙂

 

 

 

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I am *that* Mum…..*

Tomorrow is one of those school days that strikes fear in my heart every time it rolls round…and I’m sure it seems to be more often than once a year: World Book Day!

Don’t get me wrong, we LOVE books and reading in this household and the little 2 still love a bedtime story of an evening but, and it’s a very big BUT:  I hate, hate, hate the palaver of agreeing a costume with fussy off spring, (think negotiations that would have the UN weeping, weeping I tell you into their FairTrade, organic, earth friendly, GM free, soy free, dairy free, skinny, decaf foamed top latte)  sorting out said costume without spending a small fortune, or worst still having to make something Blue Peter style, all with the aid of some sticky backed plastic, a wire coat hanger and an old cocoa tin…and naturally finding of course that when the day itself strikes, obstreperous child has decided they no longer want to wear whatever it was that we eventually agreed on.

Minx has STILL not forgiven me for sending her in dressed as her favourite character when I mis-read the school news letter 18 months ago. Dressed as Hello Kitty, face painted to the nines (I was quite proud actually), I was just relieved to get her out the door, vaguely on time. Turns out she was supposed to be her favourite Roald Dahl character….she mutters mutinously about this on a regular basis; I fully expect to wake up one day and find a horses head or similar in my bed such is her displeasure and looooong memory; the mafia would be proud..and in my defence, I wasn’t the only parent who got it wrong – there was many an Elsa, Anna,  Jedi, Ninja etc.

I always have the best intentions. It’s not as if I haven’t known that World Book Day (WBD as it shall be known from here on – is it more than just co-incidence that WMD – weapons of mass destruction share similar initials?!) was rearing it’s ugly head. The supermarkets are full of natty dressing up costumes, my e-mail in-box is crammed with would be Amazon/Argos et al suggestions and Mumsnet is positively brimming with wholesomely good ideas of things I can make in my “spare” time. I can’t help thinking that’s for those smugly talented ex art school mums who can make a haute couture gown out of an old bed sheet rather than some fingers and thumbs wanna be who likes to get a bit trigger happy with a glue gun and some sequins when the children aren’t looking – can’t possibly get that stuff out in front of them, just imagine the mess. Shudders.

Then there are the even more earth-motherly brigade who will proudly post in a flourish  of FB collage pics the offering they have created lovingly TOGETHER with their offspring. A step-by step guide to how they put together The Very Hungry Caterpillar costume that instantly transforms not just from the caterpillar to pupae stage but onwards to full butterfly glory complete with working proboscis at the mere flick of a press stud and then self deridingly say “Oh well I let DD/DS (darling daughter/son for those not in the “know”) do ALL their own work really, I just helped with the dangerous bits…..sheesh….

So as I mentioned, it’s the day before WBD and number 3 son, whose in an almighty cob-on with me anyway hasn’t agreed the costume. We had agreed Harry Potter (easy enough) then Horrid Henry (now too baby-ish apparently) and finally Jack from David Walliam’s  Grandpa’s Great Escape. In theory, I should grab that character with open arms -jeans and a t-shirt, it’s a no brainer. But in reality, I will look like one of *those* mum’s that has forgotten or worse still, can’t be bothered to make any effort.

My tearful pleadings (slight over-exaggeration, more vague grumbles) that perhaps he could go as Grandpa himself complete with blazer, face painted moustache and war medals have fallen on deaf ears. So here I sit procrastinating, wondering if I can make a paper-mache SpitFire that could somehow attach to G Man’s body via elastic or similar so he at least looks as if I have vaguely tried?! Will it dry in time, where IS that glue gun…..Even the netters costume guide of The BFG looks easier than a fully scaled Spitfire but he won’t be persuaded. Sigh.

Minx on the other hand is going as Ariel from the Little Mermaid. She is merely demanding hair dye of the orange hue and an intricately woven plait that will need at least  a You-Tube demonstration and preferably a quick crash course with Charles Worthington to produce. Since we luckily have a mermaid costume to hand (doesn’t everyone?!) and even one that fits her Build-A-Bear she is relatively easy to please. Of course trying to persuade her that she will NEED (have) to wear leggings and a long sleeve top under said costume, since it’s March and snowing, is proving more of a challenge….I can’t possibly be *that* Mum that sends her child in inappropriate school wear again can I?!

Well if you don’t hear from me for a while via FB/blogging, I have either had an incident with a rogue stapler, poster paint and empty washing up bottle or my children have once again disowned me and actually done away with me for good since I am just too embarrassing for words……   🙂IMG_0047IMG_5248

 

 

 

 

D-Day….Red shoes Part 2…

image.jpegYesterday was D-Day – The Day I spoke at the Rare Diseases UK AGM in front of various learned bods and alliances of support groups etc.

I have had so many wonderful messages, e-mails and texts asking how it went and am truly overwhelmed by the support; it means a lot. Since everyone was still awake by the end of my speech and no one threw anything at me (mind you as my dear Father pointed out, have you seen the price of fruit these days?!) I am counting this one as a win.

Yes, it was nerve wracking and I had sweaty palms (bet you are glad I shared that aren’t you?!) but the main feeling  I came away with was empowerment. So often as a parent we are at the whim of the medical teams and therapists; so often we wait passively for tests, results, follow up consultations and such like that the lack of having control, feeling disempowered, becomes our norm. More disconcertingly, you don’t even realise that’s what you have become used to, until something –  in my case the opportunity to take part in the discussions at the AGM –  makes you feel alive again. I can only describe it as akin to feeling numb to everything most of the time – maybe because we parents have so much invested in our children and the lack of diagnosis over time saps your energy; we become a faded, more jaded and insipid part of ourselves? I can’t say.

What I do know is that having people listen to our experiences as a family, acknowledge the battles we fight and most importantly recognising that things need to change for all families and patients involved with complex care needs was so very important. Not just for me but for the wider community as a whole.

It was most interesting to hear from Larissa Kerecuk, the Rare Disease lead from Birmingham Children’s Hospital and the plans that have been put in place to improve services, including a whole new building block being dedicated to paediatrics department specialising in rare diseases. Inspiring and definitely the way forward! Whilst I certainly wouldn’t wish a rare disease on any one, particularly a child, patients and families utilising their facilities when the project eventually comes to fruition can be assured that they will be treated in a fantastic facility, thought through in minute detail and concern. This can only be a good thing and I will follow their plans with great interest.

To listen to Jo Goode’s experience of having a very rare condition (dermatomyositis) and the battles she has faced (and still faces) over the years to get her diagnosis, even now to access appropriate treatments was both insightful and familiar in spite of the differences in her needs and those of our daughter. In fact, there was much nodding of heads all round the  room from those who have obviously fought similar battles and could relate in ways that only a patient or carer can.

Although I thought when I first stepped up to the podium that I might regurgitate my spinach and egg muffin over the first few rows,  I came away uplifted and empowered (& probably not just because I’d had a night in a sumptuous hotel room away from a beeping feed pump and the clamouring of my children, although I am sure that helped!)  I really felt that I had contributed something useful and that those involved were striving for the best possible outcome for all affected by rare diseases in one way or another.

Whilst it was lovely to get home and see the family,  the irony of returning to my small folk who completely ignore everything I do, say and suggest after such lofty heights of the morning was not lost on me.

So, would I do it again? Hell yes! Watch out SWAN UK and Rare Diseases UK, you may have just created a monster!!

 

 

 

Put on your red shoes…….

stock-photo-7693735-red-dancing-shoes

Since I am writing this in the week that David Bowie died 😦 it seems more than a little appropriate that I get to use these iconic words in a blog post (thank you Let’s Dance)…  Ironic also that I had already planned the title of this piece before news of Mr Bowie’s untimely passing broke.

Next week I have been invited to speak at the AGM for Rare Diseases in London at The Royal College of Paediatrics and Child Health in the context of being a parent of an undiagnosed children.  Gulp.

To say I am more than a bit nervous is like saying that water is a bit wet……I really hope I can do justice to the community of parents/carers and children that compromise the medically/physically/cognitively complex, be they diagnosed or undiagnosed.  To get our message across about the lives we lead and the many roles we have. It’s no biggie right?  I’ll just imagine all the audience in their undies or something whilst I stand up and spout words of blah wisdom.

Having been invited to speak at the AGM not long before Christmas, I convinced myself I had plenty of time to write something EPIC but with Christmas hols, small people and large people around (not a size reference, honest, we had family staying) over the festive season, time got away from me and there were other more pressing matters to attend to (that wine wouldn’t drink itself you know).

I promised myself once the children had gone back to school I would settle to the task but hadn’t then banked on having “writers block”.  I don’t really consider myself a writer per se (sounds far too grandiose) but I knew with an event like this, I couldn’t really just stand up and wing it without something concrete to go on, even if that was only notes.

By the early part of this week, I had got as far as “Good Morning” and then found myself distracted by e-mails, Facebook, adverts, the sun light on the wall, what to wear – you know, anything basically other than committing pen to paper or in this case, key stroke to page.

It occurred to me having been given a fairly open brief and a speech timescale of 10 to 15 minutes that I had absolutely no idea what that looked like on paper. So that gave me another few minutes to play on google in the name of “research” and I discovered that somewhere in the region of 2500 words should cut it. Of course that threw me another dilemma: how fast do I read/speak???

Not being well versed in the art of public speaking but having been involved with theatrics in a previous life (theatrics?? you never would have guessed that would you?!) I know that it’s imperative to speak clearly and relatively s-l-o-w-l-y to get your point across and ensure your audience has understood and is engaged with you. So my usual style of 90miles a minute conversation (I even leave MYSELF out of breath) at times, wouldn’t cut it.

Nonetheless, all the vagueries of word counts, words per minute and such like were not getting me any closer to getting anything worthwhile written down. So then I decided that as I needed to use some family photos to frame my discussion around, that would be a good way of knowing what I wanted to convey and therefore a good place to continue my research.

It hit me as I explored the files on the lap top just how many gazillion or so photos and videos we have taken over the years. Far from helping however, this just distracted me still further. For the most part, it was a lovely stroll down memory lane but punctuated with pinpricks of poignancy. It also highlighted our abundant lack of organisation since photos of kids were mixed in with cats, cars, sunsets and mobile downloads but nothing in the latter years was organised so that I could find anything I actually needed or relevant to the job in hand!

So after several hours on the laptop, I had accomplished nothing more than alternating between whimsical nostalgia, smiles and a few blurry eyed moments (must have been the dust) but not anything worthwhile to bring to the event. Hmmmnn…

I was fairly sure that although the subject matter was essentially down to me, waffling on about the benefits of chocolate being an anti-oxidant (honest, it’s on the internet so it MUST be true!)  was not entirely the content that The Rare Diseases Org had in mind when they wondered if I would speak of my experiences.

But back to where to start, how to begin and how to convey such a very important message about dealing with the complexities surrounding family life and to give a snap shot of  all us families in a similar situation? The more I thought, the less I knew where to begin. How do you explain the hopes, dreams, worries, fears? How do you bring out the highs, the lows, the triumphs and tribulations and yet not make yourself or your family an object of pity or woe is me?

And then I took a breath and realised I cannot speak for everyone. I cannot pretend that I have the same experiences, difficulties or successes as others.  I can however speak as honestly as possible about our day to day lives in the hope that it might give a small snapshot, an insight and an overview and that gave me my voice, my focus for the piece.

I hope that in some small way it might humanise the process, certainly to the medical professionals who while however compassionate they may be, for the sake of their sanity and jobs, can really only think about us as long as we are in their consulting rooms or wards, operating theatres and such like. They cannot contemplate that before we arrive in their domain, we may have organised a plethora of tasks that make a popstars rider look like easy pickings. Other children that we have farmed out to willing family and friends so that we can attend their appointments, PE kits that we have painstakingly washed and ironed for 3 days hence with sticky notes on so they go to school on the correct day because we will be in-patients for a week or so. The lists of who eats what foods on what days and suggested alternatives in the event that child a, b or c throws a wobbly and proclaims they DON’T EAT THAT…EVER… The last minute spray of perfume on a kleenex so that the child having a teary moment because you are leaving AGAIN can be comforted by your smell.

So trying to communicate that angle of my life seemed like a very good place to start and funnily enough once I had begun, the words just flowed. Whether they are “good” enough,  powerful enough, emotive enough, I have no idea, but they are honest, they are my day to day and certainly reflect a lot of the experiences that other special needs parents have highlighted to me so they will have to do.

I’m still trying to wade my way through photo’s to add in and also finding some copy right free visual images to jazz it up a bit in the background but my biggest conundrum now is definitely what to wear 😉 (that’s very tongue in cheek for the avoidance of doubt!) What I do know for sure is that I have a pair of kick-ass red shoes that always make me feel fab, no matter what I am doing. So aside from whatever else I end up wearing, let’s put on those red shoes and whilst I definitely don’t think I’ll be dancing or doing a jig, it’s always up there if I get “speaker’s block”….jazz hands anyone?

 

 

 

 

 

 

 

The Good, The Bad….& the ugly….

I threw my toys out the pram a few weeks ago….figueratively you understand although I must admit I did feel like throwing things literally as well…..sadly, I am (allegedly) a grown up and this sort of behaviour is frowned upon…unless you are at a Greek wedding, or so I’m told.

What was the reason for my strop? Multiple appointments from different specialities at Great Ormond Street (GOSH) on different days and different weeks. Dramatic moi?

Well maybe, but over a 6 week period, GOSH had managed to send me 6 separate appointments necessitating 6 individual trips and at cost of + or minus £100 a pop, not to mention the disruption to schooling and trying to sort out childcare and cover for our other children as well, I reached the point of giving up any pretence that it was doable. I am not superwoman and much as admitting defeat is not in my vocabulary, something had to give.

The irony of having set up 3 appointments in the same week 6 months previously so that we could avoid multiple trips was not lost on me. None the less, only one of those appointments had been left as originally planned and everything else juggled about plus some others added in for good measure.

Now don’t get me wrong. I do not expect the NHS to kow-tow to me and my every whim but it would be nice if the individual teams concerned AT THE SAME HOSPITAL liaised with one another (especially as ALL the Minx’s issues are interconnected) and a bit of forethought and planning went in to the mix so that we could see people in one specific time frame, over several days in the same week –  which was the point of the original plan.

In fact I think this perfectly illustrates why an undiagnosed children’s nurse is so very necessary. Did you know that GOSH will be the first hospital in the UK to employ someone in this role and it is believed to be the first such position in the world?  The idea behind this is that there will be a dedicated specialist nurse who will help families and children like mine and act as point of liaison between services to oversee all aspects  of care.  Interviews for this noteworthy and ground breaking role have started but there won’t be a dedicated person until 2016.

Nonetheless, it will be very welcome when that person does seize the rains and if all goes to plan, I believe it is the intention to have 50 such roles throughout major hospitals in the UK. Yey;  parents such as myself will be breathing large sighs of relief all round! (Note if you know someone who would be perfect for this role, and really we are talking Mary Poppins on steroids to fill such an important position, have a google at the        Roald Dahl Charity      info for more details, position is still open  as date of writing )

Anyway, my good humour having been throughly displaced, I fired off polite but firm e-mails outlining why 6 separate trips were not possible and asking what should/could be re-arranged.

One of the appointments in particular had me scratching my head (& no it wasn’t nits!) We had received an MRI but it didn’t say what for and just told me I needed to allow an hour and a half for the scan. I assumed it was to look at the Minx’s spine in more detail since the scopes of her stomach and bowel plus a procedure called manometry that had been done back in October 2015, had indicated a potential spinal anomaly.

Having phoned the department to check if this was the case, I was informed “computer says no;” it was to scan her fore-arms….this perplexed me quite a bit and a sneaky gut feeling had me wondering if someone had (inserting technical term) “ballsed up.”

Not wishing to waste my time and money but more specifically the NHS’s too, since scans like MRI’s can cost hundreds and hundreds of pounds, not to mention that a more needy child could miss a valuable slot, I attempted to pin down someone, anyone in fact from the various teams involved.

I think there was probably more success in looking for Shergar than getting anyone on board with this. No one wanted to accept responsibility, ‘fess up that they had booked the scan for what, if any particular purpose or stick their head above the parapet as to just how necessary or otherwise the scan might be. Each different department seemed to suggest that someone else could help.

Whilst it has often been mentioned in the past that a scan of the Minx’s arms needs doing at some point, (because of her upper limb arthrogryposis) there has been no urgency and it was suggested as one of those at some unknown dates in the future to coincide with other things scenarios rather than a specific request, especially as it won’t change the management aspect of this part of her care.

Such a scan didn’t seem helpful in the context of possible spinal issues bearing in mind that she has also had other upper skeletal scans, the last being May 2015 and it made even less sense  when I received yet another appointment for the spinal MRI – naturally of course they couldn’t schedule the 2 at the same time….Sigh….

So fast forward through a bit of passive/aggressive key board warrior-ing on my part with GOSH, I eventually got a phone call from the neuromuscular department that went something like this:

“Hello, are you Minx’s mother?”….yes….”well the thing is the forearms scan could be useful but then again maybe not so ultimately, you need to decide whether or not your daughter should go ahead and have it…..”

It’s not often that I’m lost for words but I did open and close my mouth like a guppy for a few seconds whilst collecting my thoughts, much to the amusement of my taxi driver.  As it happened I was actually on my way to GOSH for one of the other myriad meetings at this point.

Eventually, I did manage to reply “Well, I’m so glad I went to medical school for all those years and am now sufficiently qualified to make that decision…oh no, wait a minute that wasn’t me, that was YOU and YOUR Colleagues…!!” Que embarrassed silence.

On the basis that we have managed so many years to date without the scan of her forearms and reasonably assured that since Minx’s most problematic issues relate to gut/bowel function I declined the scan. However, although apparently from a neuromuscular standpoint, as a parent I have enough qualifications to decide on the medical necessity of the scans validity, according to the  MRI department, this was not the case.

Having phoned to ask them to cancel the scan (curiously enough not trusting that the message would be passed on despite promises to the contrary) I was asked when I wanted to reschedule for. Shocked silence followed when I declined and explained why – maybe they were making guppy faces like I had? I was then told I was not allowed to make that decision and they would have to refer back to whoever had arranged the scan originally and get back to me. Good luck  with that I chortled and funnily enough I have not heard from them again….

So fast forwarding through various appointments, despite my best efforts, to combine where possible and some co-operation from a few departments, it has still been necessary to undertake 4 trips in as many weeks.

Cutting out the boring bits, we were relieved to learn that spinal MRI was clear and normal. Whilst this is essentially good news, it does not give us any clearer answers as to what is going on and why the Minx is struggling so much sensation-wise  with both bladder and bowel issues.

One of the other tests showed that her colon was absolutely jam packed (and I am afraid there is no delicate way to put this) with poop and she has very slow transit -essentially the time it takes for the stomach and bowel to move food along and expel it. It probably does go at least some way to explaining some of her pain issues. We do know that both the function of the nerves and muscles throughout the gut/bowel are ineffectual at best and at times, cease to work in entirety.

Having discussed matters in detail with both the Surgeon and Gastroenterology, various plans are afoot to help her with this but unfortunately we have already worked our way through Plans A & B and plan C, a surgical option, is looking ever more likely next year. More about that another time.

One piece of very good news that we had is that GOSH asked us to participate in the 100,000 genome project. This is fabulous news and something that we have been hoping for for quite some time.

Essentially, this is the largest genetic study currently accessible in the United Kingdom and will provide a date base for the NHS to help families like ours, both now and in the future. It may give us the best opportunity to obtain a unifying diagnosis for all the Minx’s (& for that matter, our youngest son’s ) difficulties. Potentially, it will allow for better management of her care and give us an idea of what the future holds for her. It is both terrifying and inspiring all at the same time.

Although we have undergone some genetic testing in the past, this was far more specific to presumed conditions (all of which have come back as negative to date) and so has not been helpful in the overall clinical picture.

Myself, hubby and the Minx have now had our bloods drawn for the study and signed the consent forms so it’s quite strange to think that somewhere right now,  boffins are cross referencing  our medical history and looking in detail at the Minx’s specific issues to decide how initial testing should be best commenced and that our blood samples will be whizzed across to a laboratory and analysed.

We have been told that result could take up to approximately 18 months or paradoxically that we STILL might not get answers but genetics is such a fast moving field with incredible new discoveries on a regular basis that this too could change and no answers for now, doesn’t always mean that we will never get one. So all in all, we are definitely a step closer than we were. As the saying goes, you have to be in it to win it.

Do I want to know? Are we ready? After 7 years in the dark (Minx had a birthday last week) I always thought the answer would be an unequivocal yes but I am reminded of Pandora’s box – after all, once the lid is off, it cannot be merely re-closed without consequences.

So yes, *I think* I am ready to know once and for all and once the novelty of having just been accepted on to the study wares off, I guess some sense of normality (whatever that is in this house) will resume and I will forget about it until maybe a phone call or a letter drops on the mat…. out of the blue….

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Here comes the girls……

I feel like shouting this from the roof tops and for those of you who are my FB friends you will already know but here goes anyway:

I HAD A WEEKEND AWAY…ON MY OWN (well with friends) WITHOUT CHILDREN

and in this case, the use of shouty capitals near the top of the page is a good thing, I promise!!

The weekend just passed feels like it was an age in coming since it was first mentioned and then planned back in May of this year. The PTA mum’s involved with the Knaresborough Bed Race kindly invited me to join them in their annual jaunt away, despite at the time not knowing me all that well. I think even they might have been surprised that I jumped so readily at the invite and whether they were just being polite (or took pity on me!) I accepted with relish and eagerly counted down the months, then weeks and finally the days before our jollies. Too late to withdraw the offer now ladies!

You see, us special needs (SEN) Mum’s don’t get out a lot but when we do, we REALLY like to let our hair down (*erm more on that later)  and enjoy ourselves. Of course meticulous planning has to go in to all the arrangements in making nights out or heavens above, overnight breaks even possible; those of you walking unexpectedly into our kitchens could be forgiven for thinking a full style military coup was in progress if you dared to review the strategically placed boards, contact lists and risk/reward strategies for every single eventuality from Doomsday to playdate and some in between. It’s not always easy to pull these breaks off so short of asteroid/meteor disasters, we have pretty much planned every single eventuality and possibility that could play out during our much-needed planned time out.

Of course first rule of SEN parenting is DO NOT MENTION in front of complex needs child or for that matter any other of your children what your intentions are. Nothing is more likely to ensure a hospital dash or mini crisis of some sort than letting the small people know you have plans that don’t involve them.

I know of numerous other parents like myself who have resorted to mysterious rune patterns on specific dates in the calendar. You find yourself talking in code, gesticulating or using any form of pidgin French/Spanish/German etc that your children do not understand when discussing arrangements with the necessary parties involved. I laugh and sympathise regularly when reading posts and updates from SEN parents talking about “the thing” “the you know what,” or “the unmentionable” in their bid to hide details of any important plans from their offspring who seem to feel compelled to throw a spanner into the works if privy to events.

I think I have been looking forward to this weekend away in particular for so long because the last few months have been very busy with lots of appointments and plenty more to come on the calendar; especially appointments at Great Ormond Street which are both costly to get too and a bit of a head trip in dealing with emotionally and logistically.

Despite the Minx’s best endeavours to convince everyone in school that she is a whirling dervish of energy and make me feel a right lemon pushing her wheelchair laden with only bags and coats as she hangs upside down off the climbing frame, the reality behind closed doors, can at times, be quite different.

Minx’s daily pain levels have increased again and are becoming more problematic despite the significant medication she is taking to control this. Recent tests have indicated that there may be far more issues with her stomach/bowel and even other areas of involvement than we initially thought.

I’m not being deliberately vague but really until we have had some further meetings with her consultants and her tests have been fully analysed, there is no point putting the cart before the horse and panicking unnecessarily. As and when we have more info, I will blog about it but this is not the time and place and anyway, this post is supposed to be upbeat so let’s get back on track.

So this weekend just gone saw me heading to Carlisle. Being of the female persuasion, the train fares were booked months ago, the hotel meticulously organised, restaurant etc etc. Our fabulous organiser, Sharon, had catered to everyone’s tastes and budgets and had us saving into a kitty every week so the total cost of the trip once we descended on Carlisle had been more than catered for. (Unlike the hubby’s version of the men’s trip a month back which was a hilarious ramble of FB messages still not quite planned out on the day of departure!) Sharon had even made us up little goody bags with chewing gum, lottery ticket, condom (like every girl/guide scout knows, it pays to be prepared and it’s amazing what multiple uses a latex balloon has other than its original “purpose”) and paracetamol for the morning after.

Now it has to be said that over the years I have earned a reputation as the FB lush – my wall is regularly plastered in pics from friends tagging me in anything to do with Prosecco, wine, booze etc. I think after my performance this weekend, the Knaresborough PTA mum’s might disagree that I have earned this title….It wasn’t so much that they gave me a run for my money, more that they managed a marathon whilst my efforts were a token sprint.

Initially we were all very well-behaved and the journey from Knaresborough to Leeds was very respectable. However, I pity anyone who decided to sit in our train carriage for the journey from Leeds to Carlisle to be honest. Not because we were rude or swearing but we definitely weren’t that quiet and the veritable feast of foods that we had accumulated between us made those unlucky enough not to be in our party drool and gibber at the site of. There were cheeses and dips, crisps, scones with jam and cream and of course Prosecco. Lots of Prosecco……I think we had taken a bottle each, plus a few more..and pretty much every one of those was consumed on the way up. Even the Northern Rail staff were impressed with our Smorgasbord and suggested we could have made a pretty penny on selling bits and bobs up and down the train. (Thanks to the lovely Northern Rail staff who were great and even attempted to put on a quiz for us. Never really sure if our guard was Trevor or Tony – he answered to both!)

By the time we reached Carlisle some 2 hours later, I had made my first fatal mistake. Although definitely not “drunk” I certainly wasn’t sober as a judge. As I have matured in years, (probably not in attitude) my ability to handle alcohol has largely diminished. I blame it on the children (why not?!) and I generally reach a stage where the next drink will either make me sick or fall asleep. So as we got off the train and headed straight to the nearest pub – stumbling approx 150 metres from the station – all I wanted to do was have a little nana nap. Of course my fellow mums were outraged by this and quickly set up ordering the next rounds. I propped myself up on a corner and failed epicly at downing my wine and soda but was enjoying myself hugely. It has to be said not having small people demanding my attention at regular intervals and being Lisa the person was having a very positive effect on my well-bent, much as I wouldn’t change my role as Mum but it was great to have a break from the norm.

We checked into our hotel and arranged to meet in the bar after we had changed, before heading out to dinner. Prior to the trip, much debate over e-mail had taken place about dress codes for the evenings adventures.  I in particular wanted to know if we were going “out” or “OUT OUT” – any women will understand that there is a fundamental and clear distinction between the two necessitating very different dress codes.

In the end, I think it would have been more appropriate to have gone with the scuba suit as suggested by one of our party since Carlisle was subjected to horrendous rain and wind and was generally pretty chilly. Tottering along in open toed high heels (I’m a shorty, what can I say, even my slippers would have high heels if I could find some!) skinny jeans and sparkly top plus shawl was probably not my best plan and I’m really glad I opted for the curly look instead of bothering with hair straighteners.

Not a one of us had actually thought to check out the location of the restaurant on a google maps before we left so we blindly headed off though the driving rain and eventually stumbled in to the lovely Italian restaurant. Plenty of us resorted to using the hand dryers in the ladies loos to thaw out and dry off before sitting down to dinner.

The menu was fabulous. However by this point, I had completely lost my appetite; not great when yet more booze was on the table and I desperately needed something to soak it up. I attempted copious glasses of water and nibbled at my delicious food but really didn’t do it justice. Being that I also had a wall next to me, whilst the numerous conversation round the table were hilarious (& raucous!) I could quite happily have had a little nod of if it wasn’t for the diligence of my fellow mum’s in prodding me awake.

Post restaurant I was feeling a little green around the gills whilst the majority of our party were only warming up for the night’s festivities. My shame was lessened when one of the other Mum’s (who shall remain nameless, protection of the innocent and all that – us lighter-weights need to stand together 😀 ) announced that she had had enough and wanted to go back to the hotel, to bed NOW and promptly started on her way to do just that.  Fortunately she was also one of my room mates which was even better.

I seized on the opportunity and started back with her. I don’t think the group realised we had snuck off for a good few minutes but by the ringing of my mobile a few minutes later and the outraged squawking on the other end when I answered, I was aware that my lack of presence had been detected. Oops. Busted.

Nonetheless, the girls were fab and let myself and she who shall not be named (not Voldemort obviously) away to blissful slumber. Somewhat ridiculously considering I had the night off, no need even to get up in the middle of the night to see to beeping feed pumps or unwell children or being woken by the dulcet tones of “I am finished!!” (toilet related) – in the small hours, I found myself in bed by……10:15pm – yup – well and truly rubbish! So when I mentioned further above that us SEN mum’s really like to let our hair down, I’m not sure I can entirely claim that I am very rock and roll after all! Nonetheless I had enjoyed my night and the appeal of my comfy bed and snuggly duvet was strong.

Chugging down plenty of water, I enjoyed lovely sleep until I was roused rather forcefully at 2:20am by some of our crew returning from their escapades. There was much giggling and bouncing on beds, pulling of feet and threats to drag us down to the hotel bar which fortunately had closed until 4 am; although some of the girls were intending to do a “through-er”  – carry on drinking in their rooms and then hit the bar when it re-opened –  sense (or passing out) prevailed and we all met in a well-known pub chain for a slap up brekkie the next morning. I still can’t work out whether it was impressive or vaguely terrifying to see some of the hardened amongst us knocking back Sol’s (beer) at 11am!!

And so our fantastic trip to Carlisle was drawing to a close. Not before however we had raided the local M&S for necessary supplies on the train back. Perhaps one of my favourite quotes from the weekend was uttered in the food hall: “I don’t mean to be funny and I’m not an alcoholic, but I don’t think we have enough booze here to get us back!!” Brilliant.

So once again laden with gorgeous deli foods and Cava a plenty (I think we might have used up the UK supply of Prosecco) we found ourselves homeward bound. The trip home wasn’t to be without it’s adventures though as we found ourselves stuck in Skipton due to torrential flooding which had blocked the line.

Whilst this ensured much hilarity and most people weren’t too bothered when we made it back, I was mindful that my hubby was at work and my respite finished at 6pm so as ever the girls rallied round. Hubbies and partners were mobilised to rescue us and return us safely home (or even to carry on drinking in the local bars in some cases) and we found ourselves back in Knaresborough, a bit cold, a bit soggy but having had a fantastic time.

I’m so grateful to my fellow Mum’s for including me on this adventure and if I agree to put in some heavy duty training on the staying out late party front, I am hoping to get another invite next year…..

Thanks ladies ❤

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Introducing the weird and not so wonderful…

I’m taking the plunge….no, not the ice bucket one that is doing the rounds (though it is being used very positively for various charities, raising awareness and much needed funds)…I’m afraid this is much less altruistic but I’m dipping my toes into the whirlpool of blogging…..Drum rolls, clapping and air horns aplenty please. Failing all that I will settle for a polite titter amongst the ranks and cower under the muttered “get on with it” I can feel being yelled in my general direction.

So blogging yeah…..not that hard right? not even trendy since anybody who is (was) anybody has been doing it for time immemorial and probably a lot more fluidly than I am. I should at this point however be given kudos for having the tech skills of a 2 year old – indeed my gorgeous 14 month old niece has a smart phone looking type thing (toy!) which she is far more at home with than I with my real life all singing, all dancing smart phone which to be honest is far too smart for it’s own good at times.

I digress. Guess the point I am making is that hopefully this will grow along the way as I grow in confidence.  Already bamboozled by words like “host,” “domain name,” “tags” and other such vagaries,  I need all the help I can get. Since I happen to have tech savvy kids, I am sure they will be delighted bribed help me along the way, although if you see random gibberish appearing, it’s likely I have been hacked by one of them for poor rates of pay or making them stack the dishwasher or some other such barbarity.

If you have stuck with me this far, then thanks for reading…things can only get better….right?!