Same but different….rare as Unicorn ūüí©???

Rare disease G&A Photo 2018This year 28th February 2018 is the worldwide celebration of Rare Disease Day. 

The very first ever Rare Disease Day was held in 2008 Р a leap year so the perfect occasion for the initial 18 countries that signed up to celebrate.

Every year since, countries across the world have united to raise awareness of all things rare in terms of disease.

Last year 94 countries highlighted their commitment and support to raising rare awareness which is a pretty fantastic achievement. ¬†In fact that’s an increase in ‘productivity’ ¬†of 422.2222% for want of a better way of describing it!!! (I had to ask my eldest son taking A-level maths to work that out so if the stats are not right, don’t blame me!!) ¬†So it isn’t surprising that highlighting all things rare is close to the hearts and minds of those who live with a rare disease or have family members affected by a rare disease.

What does ‘rare’ mean to you? I googled the word rare in the Oxford English Dictionary and the top definition that came up as an adjective was this- ¬†“RARE: ¬†–¬†of an event, situation, or condition not occurring very often.¬†‚Äėa rare genetic disorder‚Äô,”

After that it went on to talk about rare steaks, uncommon birds and such like. Interesting I thought however that the very first sentence used to define ‘rare’ was in the context of genetic disorders!

Actually I think the use of the word ‘rare’ in the context of rare diseases is a bit of a misnomer. Why? Because at any given point 1 in 17 of us will be affected by a rare disease! Surprised? Think about this number in terms of the day to day and see how it relates to your experiences.

If you used public transport today (probably a bad example since much of the country seems to be under snow!) was it crowded? More than 17 of you on board? Probably. Bought a coffee in one of the many high street chains? Hopefully not 17 of you in the queue at any one time but probably more on the premises tucking into a hot drink or waiting anxiously for their turn.

17 is lucky in some countries, unlucky in Italy. 17 is the number of muscles it takes to form a smile, 17 syllables in a haiku poem. 17 is the least random number in a study conducted by MIT asking people to choose a number between 1 and 20. So again, not that rare.

A rare disease/condition in Europe is classified as affecting 1 in 2000; in the US fewer than 1 in 200,000. 80% of rare diseases are genetic in origin whilst others are as a result of infections (bacterial or viral) allergies, environmental factors, degenerative or  known as proliferative eg cancers.

Of those diagnosed with a rare disorder a staggering 75% will be children. ¬†In fact, many of these children are a whole new breed of rare. So rare that their medical/physical and or cognitive difficulties don’t actually have a name!

Presently we know that there are approximately 6000 children born each year in the UK  alone who have an UNDIAGNOSED condition. Of those, only 50% undergoing genetic testing on the NHS will ever get a diagnosis. And this is something very close to my heart because 2 of my children are undiagnosed.

Whilst we can indeed be enormously thankful that medical science is evolving and improving so rapidly –¬†¬†approximately 5 new rare diseases per week¬†are described in medical literature ¬†– organisations like¬†https://www.raredisease.org.uk¬†provide essential support and a voice for those affected by a rare condition.

For those of us still in unknown murky waters, studies such as  DDD РDeciphering Developmental Disorder  https://www.ddduk.org  or the 100,000 genomes project /https://www.genomicsengland.co.uk/the-100000-genomes-project/  offer families like mine the best chance of getting an answer as to why our children experience various difficulties and potentially the best way to manage their conditions, obtain treatment or assistance and potentially connect with families in a similar situation.

Families such as mine with children who are undiagnosed and/or ultra rare can often feel alone. SWAN UK http://www.undiagnosed.org.uk provide the only dedicated support network for families of undiagnosed children and young adults affected by a genetic condition. Hand on heart I can say that the support I have received by being a member (and now a volunteer parent rep) has been a veritable life-line.

Although my youngest 2 children have a myriad of medical terms/symptoms and diagnoses, to date we have no unifying “umbrella” that explains why they are affected. Their medical notes are vast. Between them they have confounded some of the brightest and most well respected specialists across the country. If I had a ¬£ for every time I had heard the words ‘rare’ ‘atypical’ ¬†‘uncommon’, ‘complex (the list could go on for a while, you get my gist) I would be a very rich woman.

If a part of the human body or a specific organ is supposed to work a particular way, you can pretty much guarantee with my kids that it won’t. If unusual presentations or the extraordinary were olympic sports, my kids would be gold medalists. Several times over.

So over the years, being able to talk to those who understand what we are going through, who have felt left out, different or isolated has been incredibly important and helpful.

If one in 17 of us will be affected by a rare disease in some way, IT COULD BE YOU

Please click on some of the links above to find out more and if you can, please consider fundraising or donating: https://www.raredisease.org.uk/donate/      https://www.undiagnosed.org.uk/donate/

 

 

 

 

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Dear Mr President…&… you too Mr Hunt

I don’t suppose either of you will ever read this because if I may borrow a phrase from the pop group Journey: “I’m just a small town girl”… and thereby vastly unimportant in the stratosphere’s you preside in.

Strictly speaking President T, I guess you would classify my proclamation as ‘fake news’ since being the wrong side of 40, I’m playing a little fast and loose with the use of the word ‘girl’ but I digress.

So what’s the point of this post if you won’t ever get to read it or even be aware of it on the most peripheral of levels? Honestly, I don’t know but what I do know is if I sit back, say nothing and just let the world continue turning without speaking my mind, then I’m just as complicit and negligent as so many of those who DO hold positions of authority and have the real power to effect change – notably the policy makers and advisers to you important people. Call me naive but surely even they have to report back on the dissension of the people, even though it’s not necessarily what you want to hear?

I’m equally sure the voice of the collective masses can’t have escaped your notice when we annoyingly clamour so loudly. In fact I know you are at least partially aware given some of your recent tweets but more on that later.

What did you do on Saturday night Messrs Trump and Hunt? I don’t see either of you as being of the Netflix and chill persuasion and I assume there are only so many important dinners, galas, schmoozing and events that you have to attend. Surely even you get the occasional Saturday nights to hang out?

If the (un)popular press are to be believed, at least one of you is partial to a Maccie D’s so perhaps you put your stretchy waste band joggers/onesie one and indulged in fries and made friends with Ben & Jerry’s… In any event, I bet you didn’t do this: That’s what my Saturday night looked like – preparing medications and feed for a 24 hour period for 2 medically complex children.

Please know I don’t post these pictures for the sympathy vote; it’s not a pity party for one but as I see it, a picture (or 3) paints a thousand words and sometimes replaces the needs for words entirely. Sorry though, you don’t get that lucky just yet. I’m not done with the rhetoric.

You see as I hummed my away around the kitchen opening and sorting various medical supplies, Dua Lipa on loud, (music concentrates the mind!) I had a mini, well actually fairly major epiphany.

I have said it before and I’ll say it again: I’m so incredibly grateful to our amazing NHS that all these items my children need, depend upon to LIVE are “free.”

I am lucky, for want of a better word, that my children can presently receive urgent care and treatment as well as day-to-day management of their various issues as and when they need it; that I don’t have to choose between putting food on the table or trying to scrape together the funds to pay for specialist equipment, feeds, even consultations with healthcare professionals. But how long will that be the case?

Never was I more aware of how precious such services are as when I had a conversation with one of Minx’s community nurses last week. One of her pesky stoma’s that was surgically resected in December last year (yet more free care) has unfortunately prolapsed again.

This is problematic for numerous reasons: pain, bleeding and the fact that the prolapse occurring even as a first incidence had the medical bods scratching their heads, let alone for a second time. In fact in all the years our community nurse has been in practice and with her vast case load, she’s never had this happen to even one of her patients ūüôĄ

I suppose it’s just another part of Minx’s foibles uniqueness but it’s really time-consuming and causing her distress to have to change dressings (& clothes at times) and clean up several times a day.

Although we have reassured her this is in no way her fault and clothes can be washed, it’s not ideal. As she gets older and more body aware, she is cognisant of the fact this is not something her contemporaries face and her worry and distress increases. We take great pains to build her self-esteem and celebrate how well she is doing but it’s a fine balancing act not to minimise her day-to-day difficulties and yet promote her ‘ordinariness’ – something key to her in wanting to be the same as everyone else. So we need to manage this the best we can.

Our trusty nurse assessed how we should proceed for now before our next trip to Great Ormond Street and set about contacting our GP to get prescriptions for various lotions and potions, dressings and even support garments. Again free.

I assured her I had a stash of dressings at home from past dabblings in stoma management and reeled off a list of supplies that would make a Casualty (TV show) prop-dresser weep.

It’s always advisable to have supplies in hand. Despite our best endeavours to keep both her stomas clean and infection free, by virtue of the fact that it’s a non sterile opening into (& out) of the body and that the body sees it as a foreign object, it’s likely that infections or skin/tissue difficulties will tear their ugly heads at some point in time, especially post-operatively.

Only for one tiny moment did I hear the tiny but sharp intake of breath she gave. And if I hadn’t questioned the community nurse on it further, I’m pretty sure she wouldn’t have said a word.

Her almost imperceptible gasp related to the dressings. These babies on the left to be precise:

You see we have a stash of the foam pad dressings on the left which are used predominantly when a wound/stoma site is infected or particularly (watch out for technical word) “manky.”

These rather innocuous looking, individually sealed dressings are impregnated with an anti-microbial property which helps speed healing, prevent colonisation of bacteria and generally fend off/clear all sorts of overall nasties.

Because I pushed, the community nurse explained they come with a price tag of ¬£2.50 … per dressing… and we have 2 boxes of them, approx 20 per box if I recall correctly. And guess what? I got those “free” from our pharmacy too. Prescribed “free” via our GP.

The dressings on the right of the picture do a similar job at the cost of 9p per dressing so it was more than understandable and acceptable to me when the nurse asked if I would mind utilising those in the first instance.

She stressed that if acceptable progress wasn’t made quickly we should have no qualms switching to the other kind and if I hadn’t questioned her, I’m pretty darn sure she wouldn’t have said anything else on the subject. At no point was I made to feel any kind of guilt or justification for utilising such extensive and expensive resources.

I’m sure those far more worldly than I will point out how in reality none of the aforementioned items or services are “free” and yes, yes I’m well aware that as tax payers, we pay in towards a system that (partially) funds all this but for all intents and purposes, at the point of service delivery, my children can utilise what they need with out exception, without paying and are thriving as a result. Again how much longer will we have this assurity?

Quite frankly Big D, I don’t profess to fully understand all the ins and outs of your heath-care system in the US. But I know enough to be afraid and I dread to think what would happen to my children and for that matter, to my entire family if we lived in the US. I’m pretty sure that at least some of the family would be uninsurable.

What I do know from my friends across the pond are their concerns over yout 2 tier system that favours the wealthy and knee caps the poor; the eye watering medical costs, deductibles, exclusions and/or restrictions on cover that penalises an aging population or those who are medically and physically complex. The demand to know even before treatment can commence as to who provides your medical insurance and what level of cover you have scares the living daylights out of me!

The Affordable Care Act ‘- Obamacare’ – certainly rung the changes and whilst far from perfect, seems to have provided a more level playing field for all walks of life. That you seem hell-bent on repealing it come hell or high water is almost certainly a retrograde step that disincentives healthy individuals from paying into the system, thereby ensuring rising costs for those most in need of protection.

The furore and uproar from us Brits in response to your recent declarations regarding our much-loved NHS may have come as something of a surprise to you. You caused ructions when you dared to criticise our beloved universal health care system and you crossed that uniquely British line that allows us to be both hyper critical and yet extremely proud of British institutions all at the same time.

I think you neglected to bear in mind the fundamental point of the NHS when you tweeted about our front line medical personnel and equally incensed members of the public who recently marched in protest with the “Fix it Now” campaign – ¬†the sheer and utter outrage at the lack of funding for services.

The NHS was created out of the ideal that good healthcare should be available to all, regardless of wealth. When launched by Aneurin Bevan on July 5 1948 its three core principles were:

‚ÄĘ that it meet the needs of everyone

‚ÄĘ that it be free at the point of delivery

‚ÄĘ that it be based on clinical need, not ability to pay

Of course it is only right that those core guiding principle are still held true and dear.

That at present our health system is in crisis is not in dispute. The year on year lack of real term funding, the austerity measures, closures, cuts and the insidious but increasingly louder suggestions of privatisation lurking in the wings are of grave concern to anyone with a modicum of sense and compassion.

Whilst you Mr Hunt publicly denounced The Donald’s tweets and are “proud of the country that invented universal health coverage” regardless of bank balance, I think it’s fair to say those on the front lines and those of us trying to read behind them are all sceptical that you intend to maintain such partisan beliefs when it comes to delivering what the NHS really needs.

I guess it’s even harder to believe you will abide by its guiding principles given that you apparently co-authored a policy book back in 2005 called Direct Democracy: An Agenda For A New Model Party.

It is only fair to point out that I suppose this was part of a collection of writings by a group of Tory MP’s and the book was presented as a whole; chapters are not marked with individual authors; nonetheless it stated:

We should fund patients, either through the tax system or by way of universal insurance, to purchase health care from the provider of their choice”

Whilst this ‘gem’ was amongst many varied ideas, the policy pamphlet called for the NHS to be replaced by an insurance market style system and even went so far as to outline how this could be achieved, stating that the private sector should be brought in:

Our ambition should be to break down the barriers between private and public provision, in effect denationalising the provision of health care in Britain.‚ÄĚ

So you will forgive myself and my contemporaries if we are more than a tad sceptical of your motivations and your purported promises to main the core principles that the NHS was built on.

It was widely reported in early January that Chris Hopson ¬†(chief executive of NHS Providers, ¬†the go between between¬†health trusts and the Department of Health) wrote to you calling for extra investment on a long-term basis to address the ‚Äúfragility of the wider NHS‚ÄĚ.

Mr Hopson’s ¬†three-page letter requested a commitment to increase the¬†NHS¬†budget to ¬£153bn¬†by 2022/23 – the sum that the Office for¬†Budget Responsibility said is needed, given the projected increased demand for services.

His letter went on to state ‚ÄúThe NHS is no longer able to deliver the constitutional standards to which it is committed. We need to be realistic about what we can provide on the funding available.”

You agreed that funding has to be increased….but how this will be achieved still remains a closely guarded secret. Whilst researching facts for this blog piece, I found scores of references, much hyperbole and conjecture but no real concrete plans. Everything seems to be up in the air and awaiting clarification. Smoke and mirrors. Maybe even our own British take on “fake news?”

Certainly a lot of your past ‘promises’ on how services have improved, how more positions have been created with a larger workforce in place don’t stand up to scrutiny when you dig a little deeper.

Perhaps unsurprisingly but extremely scary, when typing your name into google Mr Hunt, plus the words NHS, the most popular ‘hit’ that came up was privatisation….

Considering your much waited plans are going to be the biggest and most encompassing strategy for the NHS since the early 2000’s, I won’t be alone waiting with baited breath…and fear….