I’m a bit less ranty today but no less passionate so let’s get this done and written before I lose my impetus… never mind the will to live.
I like to think I’m currently channeling my inner Taylor Swift and her pals in the Bad Blood music video:
(*above image may be subject to copy-right)
But in reality I should be so lucky. I’ve spent far too much of the day with my youngest son on a hospital ward, wallowing, sat on my butt, scrolling social media and eating chocolate. Less Swift, more sloth; I can feel the helplessness wanting to swallow me up; shut me down again.
(sorry sloths everywhere who are probably outraged at the comparison)
I’ve been extremely touched how many people have commented/got in touch or shared my previous post. Thank you.
I wish what I had written didn’t resonate with so many but I am also grateful for the support and the sense of solidarity.
I recognise the issues facing my family are far from unique. Judging by support groups I belong to, friends, social media and so forth, this utterly deplorable battle for services to provide and protect those most in need, those who don’t have a voice of their own, those with the least ability and energy to fight are being waged up and down the county.
Whilst the difficulties faced may be slightly different, they all share a common denominator: the vulnerable, those in crisis, those society should be protecting and empowering.
Forgive my Whitney Houston moment but our children ARE the future and if we don’t invest in them and secure the best possible pathway, what hope is there for society moving forward?
I also know the elderly, infirm, mentally unwell and so on deserve their cause being championed in the same way.
I recognise on a deeper level my attitude is simplistic and that something policy-wise, fiscally, has to give or change dramatically going forward.
How do we achieve this? I don’t know; I never professed to have the answers as to what this should look like in terms of the bigger picture.
All I do know is a seismic shift is necessary, society is screaming out for it. How we approach this, how we can achieve it is for somebody/ies far more qualified than I. (Otherwise I probably should be standing for government….🤔)
The demands of a large, aging population who are living longer, the epidemic of obesity, drugs/alcohol/cigarettes, the advances in medical science meaning those who once would have met their maker because of cancers, heart disease, prematurity of birth and the terrifying increase in the so far unstoppable dementia are well documented. There can be no escaping the fact that expectations and demands for provision will increase year on year.
All the while the funding for front line services is being reduced or in some cases done away with all together. Departments asked to find millions in cost savings, balance the books and yet still pull it out of the bag, somehow.
Morale is at an all time low as evidenced by the mass exodus of Doctors, nurses, emergency services and so forth.
I’m not naive. I know the country is on its knees financially and floundering in uncertain times: Brexit, the future of the NHS and government but the refusal to engage, instead throwing up wall after wall, challenge after challenge means there’s less money in the pot to provide even the most basic of services.
Is it just me and people like me that can see the irony in money being spent on disputing and denying care instead of the care itself?
We are informed of cuts to services/benefits/ grants every time we switch on the tv, open a news paper. The effects of austerity on all aspects of social care, health and education (and of course the ripple effect on our police force, armed forces and such like) have been hiding in plain sight for many, many years
Why is it that the major political parties seem far more invested in scoring points at each other’s expense and plotting a coup to oust their leaders than implementing change and securing services for the greater good?
I want to believe the bean counters genuinely care, that there is an appetite for change but they have become so blinded in covering their backs, their departments and their funds, (actually the tax payers funds) they have forgotten their original purpose. The other alternative: that they enjoy the power trip, playing god and causing abject misery has to be some dystopian fantasy…. doesn’t it?…
I do know that continuing with this ostrich style approach, riding rough-shod over those of us trying to cope day in, day out and strangling us in a bureaucratic nightmare, (presumably in the hope that parents/Carers will give up) ISN’T helping.
If as much effort and emphasis was put into providing and fulfilling services, identifying and enabling children, parents and the wider family before they reached crisis point a great deal more would be achieved.
I can’t help thinking that in fact the overall financial outlay would ultimately be a lot less, nevermind the impact and fallout on the family which ultimately add to the spiralling costs.
How much do local authorities spend on retaining expensive legal council, defending cases and when challenged by parents on the attack, concede a case with moments to spare? The costs in such situations are not merely financial.
Whilst I cannot go into the ins and outs of our case in detail at the moment (until we receive the decision of the SEND tribunal I don’t want to prejudice any outcome) I can relate some of the damage and the wider implications the delays have caused us so far:
- Inability for autistic child to access mainstream education since March 2016 resulting in high levels of anxiety, depression leading to self harm and suicidal idealisations necessitating multiple in patient/out-patient hospital stays
- Provision of interim specialised education package with 1:1 staff ratio/on occasion 2:1 to provide up to 2 hours study per day (where possible round child’s anxiety)
- Child unable to access GCSE subjects/make option choices
- Involvement of multiple agencies on numerous occasions – police, accident & emergency, CAMHS, children’s social care, Young Carers, autism out reach, fostering team and foster carers
- Local authority (LA) assessment and review officers to prepare EHCP, take information to specialist information panel on multiple occasions, liaise between relevant parties, issue consultation paperwork to potential schools
- Assessment of child by educational psychologist for local authority
- School transport (single occupant) with escort to ensure autistic child safely taken to and from school
- Maternal mental health crisis triggered, medical intervention required, inpatient psychiatric care for 3 months, multiple medications and therapies
- Community care package to support maternal mental health, crisis team management, out of hours services
- Care package from disabled children’s team to provide direct payments in support of care for medically complex child thus enabling sole breadwinner to continue to work
- Emotional support to other children in the family necessitating pastoral support, teachers from 2 separate schools reporting back on children’s well-being and attending looked after children’s (LAC) team meetings, approximately every 6 weeks
- All children in family requiring support and intervention by CAMHS to address trauma and ongoing psychological fall-out
- Family engaging professional legal team and independent educational psychologist to prepare case for tribunal
- LA engaging in-house legal advice and support
- LA acquiring professional legal counsel to present at tribunal
- Convening of independent tribunal and panel member(s) in official court to hear evidence from family and LA surrounding case
How much does all of this add up to? This is not an exhaustive list and no doubt there are things I have unintentionally missed/forgotten but I think it is a fair representation. It’s pretty depressing reading isn’t it?
Has what I’ve detailed shocked you? We are just one family in a cast of thousands, dare I even say millions.
Unless you or a loved one need to avail yourself of services, you assume it happens to others; not to people like us.
We are now the others.
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
Thank you 🙂
Yesterday 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!!
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….