Disability – a four letter word? – a Rare Disease Day post.

“The superior man is distressed by the limitations of his ability; he is not distressed by the fact that men do not recognize the ability that he has.” ~Confucius
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The following is a very thought provoking piece about disability, and our prejudices towards them, that appeared in the UK media.

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Disabled are at the mercy of ministers and media

What would you think if you heard the Home Office was colluding with newspapers to fuel hatred against gay people? Or if affable Ken Clarke at the Ministry of Justice fed propaganda to broadcasters designed to disparage ethnic minorities? There would, quite rightly, be an outcry.

This is the issue confronting another minority – and one far more ostracised in society. Ministers at the Department for Work and Pensions, desperate to force through cuts to their budgets, have demonised disabled people with smears designed to give the impression that many are cheats and scroungers.

Daily life is already tough enough for the disabled. A majority of Britons believe most people see them as being inferior. Little wonder they find it harder to get a job, are more likely to live in poverty and, increasingly, are victims of hate crime.

Typical is a case heard last week when a teenager attacked a man walking along the street, shouting: “He’s disabled. He deserves everything he gets.”

The charity Scope has revealed increasing antagonism towards disabled people, with two-thirds saying they have experienced recent abuse.
This dark new mood is terrifying for people who struggle to access things the rest of us take for granted: not just jobs but public transport or a meal out. It destroys confidence and makes people change behaviour; I know one man who barely left home after being targeted and others who always ensure they are back before dark.

This is shocking enough. But what is so scandalous is that a government department – run by ministers calling themselves compassionate Conservatives – has fuelled this disturbing new climate. It distorts data, manipulates facts and misuses statistics to feed a false media narrative that scapegoats the vulnerable.

So they give the impression that fraud is commonplace, conflate benefits designed to support people in jobs with those supporting people unable to work, and encourage the idea that filling in a simple form is the passport to a life of luxury at taxpayers’ expense. Oh yes, with an expensive car thrown in, even if your child just has mild behavioural issues.

The facts are very different: levels of fraud for disability benefits are significantly lower than for other benefits, with more money wasted by officials making errors. Not that we hear much about maladministration, do we? Nor that taxpayers save more by disabled people not claiming than is spent on overpayments.

Instead there is a spate of drip-fed stories about “scroungers” and a decline in sympathetic articles – not just in tabloids but in broadsheets and on the BBC. Columnists talk about the “fake” disabled, or think it witty to say we should all pretend to be disabled to get lucrative handouts.

The legacy of such negative stereotyping is more hostility, more attacks, more fear and a deepening state of apartheid for people with disabilities.

Perversely, this comes as Mr Clarke extends hate crime laws to ensure tougher penalties for those attacking the disabled.

There is nothing wrong in stopping fraud or imposing cuts at a time of austerity. But it is revolting to see politicians and the media collude to target people who just want to join society. Or do we want to live in a world in which people with disabilities are driven further into the shadows?

Ian Birrell

http://www.thisislondon.co.uk/standard/article-24033624-disabled-are-at-the-mercy-of-ministers-and-media.do

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

Experiences – a Rare Disease Day post.

Rare Disease Day 2012

Rare Disease Day 2012

“Everything has been said before, but since nobody listens we have to keep going back and beginning all over again.” ~Andre Gide

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I wanted to bring you another guest post, this time from someone that I’ve been in contact with more than once and how always offers a very friendly ear, as well as a VERY experienced brain, in helping others learn about, cope, and deal with their own journey with a rare disease:

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4 years ago, my neurologist decided that there is no known neurological disease that can explain my illness (this was after 3 years in which he couldn’t make his mind if I do or do not have MG). At the same time my respiratory physicians told me that unless I am injecting myself with a muscle relaxant (which I knew I wasn’t)I have episodes of respiratory failure, and would eventually require respiratory support.

I was left on my own to decide what to do with this very conflicting information.

In fact, as my neurologist (who truly wanted to help me receive the care I require) made sure that everyone around me will be aware of my “emotional problems” and need for emotional support, I was really on my own.(not that I am against emotional support, but not when it comes instead of proper medical treatment).

The summary letter my neurologist gave me, reminded me of the case description section of a clinicopathological (CPC) in a medical journal called NEJM. After which always come the brilliant discussion of how this mystery was eventually solved.

I was determined to find the solution before it is too late and I find myself (according to what my respiratory physicians planned for me) in a nursing home connected to a vent.


Recently, as part of the 200 year celebration of this journal, they asked for personal stories related to it. And, it reminded me of that day, and for the first time I wrote about it under my real name.

It was my way of telling the medical community, from a personal perspective, that rare disease and even rare presentations of rare diseases do exist. And that it is very easy to dismiss them as unexplained or impossible, with out realizing the consequences of doing so.

On the other hand it takes a lot of time and effort to figure it out, and I doubt that anyone but me would have had the motivation to do so.

Which explains why it is unfortunately not so rare, in the busy medical world, to find people who remain with “unexplained diseases” and only a minority is eventually figured out.

Like many physicians around the world, since the early days of my training the NEJM had been a continuing source of knowledge and a place to practice and improve my clinical thought process and skills. I didn’t know that one day it would also provide significant hope and the tools required to decipher my own illness. It was a very hard day for me when my neurologist, after nearly three years of various tests and therapeutic trials, told me there is nothing more he can do for me. I was suffering from an “unexplained neurological illness” that was by now severely debilitating and, according to my pulmonologist, could even endanger my life. The letter my neurologist gave me, so that I could consult others, mostly looked like the case description section of a CPC. There were no suggestions of what my illness could be, or what further tests should be done. After a short while of despair, I remembered all those times since being a fourth year medical student in which I would eagerly read those cases in the journal and try to think what the answer could be. I would sometimes be successful in figuring them out and sometimes fascinated by the beauty and complexity of our profession. Time and again I was impressed by how a meticulous assembly of seemingly unimportant and easily overlooked details, combined with proper knowledge and skills, can lead to the diagnosis and management of a seemingly unexplained illness, preferably before it is too late to intervene. This gave me enormous hope and motivation to search for a solution for my own “mystery illness”, before it was too late. It took much patience, time and involved consultations with many physicians and scientists around the world, as well as learning as much as I could on my own, to gradually put together the pieces of this complicated puzzle, and find not only the diagnosis, but also the optimal management approach. Putting together seemingly unexplained symptoms and findings eventually led to the understanding of a possible novel disease mechanism causing an unusual presentation, unexpected response to commonly used treatments and confusingly normal test results. This was the most rewarding CPC solution, as it restored at least part of my personal and professional life, helped me find those who could help and enabled me to go back to my clinical and academic work, albeit in a somewhat different way.

Michal Haran/ Kaplan Medical Center

http://nejm200.nejm.org/text_submission/a-personal-cpc/

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

Perspectives – a Rare Disease Day post.

Rare Disease Day 2012“We begin to learn wisely when we’re willing to see world from other people’s perspective.” ~Toba Beta

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I wanted to bring you a very unique voice – a very unique perspective – on rare diseases this time; a doctor will look at someone’s illness one way while the patient will obviously have their own thoughts.  In this case, however, the doctor is the patient or the patient the doctor as I bring you the words of ‘Alice’, a physician who suffers from a rare disease herself:

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For a physician- a rare disease that has no currently known treatment is an intriguing challenge.

For a patient- a rare disease that has no currently known treatment is mostly a scary experience.

For a physician- a patient with a rare disease that doesn’t seem to significantly respond to any known treatment, requires the use of his/her best professional scientific and humanistic skills.

For a patient-having such a disease, requires mostly finding the best way to live with it, and finding a physician he/she could trust to be his partner in this quest.

For a physician finding the answers to this intriguing puzzle is very rewarding.

For a patient when such answers are found means getting back at least part of what once was their life.

For a physician, who is also a patient with a rare disease that doesn’t fit the “box” in its course, diagnostic tests and response to treatment it is both an intriguing challenge and a scary experience. It requires the best of her scientific and humanistic skills to try and find the answers, as well as the best possible way to live with it. And if she is lucky also eventually find a physician who is ready to become her true partner sharing his and her knowledge, experience and skills to find the best management approach together.

Having a rare, hard to diagnose and manage MuSK MG, in the midst of my very promising career as a haematologist, made me understand first hand what it means to have such an illness.

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

Limits – a Rare Disease Day post.

Rare Disease Day 2012

Rare Disease Day 2012

Acceptance of one’s life has nothing to do with resignation; it does not mean running away from the struggle. On the contrary, it means accepting it as it comes, with all the handicaps of heredity, of suffering, of psychological complexes and injustices. ~Paul Tournier

Something that I’ve discovered over the years, when dealing with my illness, is the need for flexibility in all things.  Obviously I plan to do things, and I hope to do things and – sometimes – I even get to do things but there are other times when the things in questions just don’t happen.

I suppose it is like everyone else; a plan is made to do something, say meet friends for a meal, or to see a movie, and something comes up – it could be work, a flat tyre, a headache, sick children, etc.  We’ve all been there, right?  However, for me (and so many others) plans are sometimes made and the thing that comes up is simply that it cannot be done.  There is no energy left in ones body, or every muscle hurts, or – thankfully only occasionally – both.

It is hard to let people know that you are letting them down because you are tired.

That sentence, just above, has been MY personal problem for a long time, and it was all to do with not fully accepting I had a physical problem at all and, therefore, not being able to let others help.

You see I wasn’t just tired – I was suffering from symptoms of a medical condition.  Everyone gets tired, of course, but not everyone has a condition that makes their muscles weaker, fatigue faster and recover slower.  Not everyone, when they are tired, runs the risk of their breathing degenerating.

Also, I wasn’t letting anyone down.  If I had been honest with my friends – all of them, all of the time – they would have been NOTHING but supportive of me and my reasons for not always being able to do what was planned.

However I wasn’t open and honest so, at the end of the day, I was blaming myself for a weakness that wasn’t beyond my control and compounding this by assuming that the people closest to me would think less of me somehow.

Yeah – what an idiot!

Accepting limits, or even just acknowledging them, is not the same as resigning oneself to one’s fate, or giving up.  It is – as I am realising – simply being sensible and perhaps losing a small battle but being able to fight the war another day.

Which leads me to my point – yes, I actually do have one – which is this:

The post that I wanted to do today wasn’t what I’ve just written (it was about an extended stay in hospital, when my tendons were fixed and I was first diagnosed with the muscle condition, the subsequent long recovery) but I’m going to leave that for another day.

Why, you ask?

Well, I’ll tell you.

I’m tired.  Actually I am beyond tired.  I am exhausted – in the literal, not the hyperbole, sense of the word.  It is a struggle to sit here and write these words but I know that, if I were to attempt to write the ones that I want to, I won’t finish.

I’ve worked hard al week, had late nights, played with my kids, taught to martial art classes, driven close to 1000 miles .. and many, many, other things.  They’ve all caught up with me.

In the past I would have pushed through and tried to do the writing now anyway; I may even have succeeded.  I would, though, have been pushing past my limits and paying for it over the coming days … I would have been more tired, for longer, and possible even run myself down until I got ill.

I’ve accepted that I am not physically able to do everything just as I’ve accepted my limits and having to plan better without punishing myself for my decisions.

So I’m postponing my big post for now and taking a break, knowing that I can write it tomorrow – or the next day.  Knowing that, by doing so, I will be ABLE to write it tomorrow or the next day, as well as many other things.

That, my friends, is progress.  That is acceptance of limits.

If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

Jigsaw – a Rare Disease Day post

Puzzle piecesThere are no extra pieces in the universe. Everyone is here because he or she has a place to fill, and every piece must fit itself into the big jigsaw puzzle ~ Deepak Chopra

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Last time we spoke, dear reader – or at least last time I typed and you, hopefully, read my words – I’d left things at the moment in hospital, a few days after recovering from a near fatal reaction while having an operation to release/fix my Achilles’ tendons, when it’d been decided that I had a congenital muscle condition.  It was a brilliant neurologist – and slightly mad – who was looking into / working on me, at the time, and he had pretty much already made his mind up before he even performed the procedure to take some of the muscle out of my thigh and send it … somewhere … for testing.  The result would come back to proof his hypothesis but that was really just ‘belt and braces’ as he put it.

He knew what was wrong with me simply from the symptoms, from talking to me and my mother, and from the reaction to the anaesthetic.

At the time I think that we all – doctors, parents, and myself – missed something important; it was understandable, of course, so much change in such a short time and two medical conditions – spina bifida occulta and congenital muscular myopathy – diagnosed within days/weeks of each other.

What we missed was pretty much the fact that, after DECADES of not being diagnosed with anything at all I’d suddenly been diagnosed with two, different, conditions – both of which could’ve been responsible for the symptoms but, alternatively, could have been too easy an answer.

Let me take you back a bit, very briefly (or as brief and concise as I get when typing, which is really all that).  As I mentioned in a previous post I was a difficult birth and had to be delivered with forceps; growing up I was in and out of the doctor, and sometimes hospital, often but never for anything big or major:

–        I had breathing issues so had my adenoids removed and was diagnosed with asthma, even though my symptoms were atypical;

–        I had too many teeth, at an early age so had to have some removed;

–        I was short for my age and was investigate for growth deficiencies but, conversely I was walking just before I was nine months old;

–        I went through a ‘phase’ of passing out for no reason that was ever discovered.  This happened infrequently, but over an extended period of time.  It happened a couple of times that led to life threatening situations, such as passing out into a school pond and nearly drowning then, again, while at a Cub Scout camp on the beach, a few yards from the sea … at that time I was taken to a German hospital where a professor asked my mum if he could open my head up.  She said no, we moved Country, and new doctors started again.  Then I simply stopped passing out.

–        Then, sometime in my childhood (it is really hard to figure out when, though looking through old photos we can see some of the signs of it being there, but never a definitive period of when) my tendons stopped growing and I started walking on my toes.

I had a long phone conversation with my mother, who was talking to my father during it, the other night, when I was explaining what I was doing with these posts (obviously I had to start with what a blog was, but that was a WHOLE different conversation :)) and a lot of memories came back to them both, and to me too.  From that one question finally surfaced:

Why wasn’t anything spotted / diagnosed way back when?  I mean I saw a truckload of doctors, in various hospitals, across Europe; I had an MRI back when those things weren’t as common as they are now (and was actually escorted, by armed guard, into a secure wing of the Royal Victoria Hospital to have the tests due to the time period and my father’s job).  As said above a German doctor even wanted to open me up and test my brain as he though it was a neurological issue, but there wasn’t time to do so.

… that was part of the issue.

Lots of doctors, lot of ‘little symptoms’, no constancy or pressure to discover anything as nothing was debilitating, life threatening in itself, or obvious!  Each time we moved a different doctor would be looking at different things, if looking at anything at all.

A needle in a haystack?  I think, looking back with my knowledge now, that it was more like looking for a piece of hay in a field of haystacks … or the piece of a jigsaw puzzle when you don’t know what the original image actually is, in a box full of old, discarded puzzles.

If you don’t know what you are looking for, because it isn’t obvious, because it is atypical or … in my case … because it may not even have been discovered (from a genetics) point of view, then you really have your work cut out for you, don’t you?

My mother seemed to feel guilty, and wondered why no one had seen what is obvious now – that there was something wrong with me.  The answer was obvious – I was a happy, relatively healthy, normal looking, kid with great parents and doctors who did their best in difficult circumstances.  When the symptoms became more obvious, and the doctors finally had something to point at and actually, fully, diagnose, things changed and progress was made.

That is probably why they call it a rare disease, ey, because if it was common, or easy to find – treat – cure – then it would probably have a different name :)

However, as I said somewhere up there – I think that when symptoms do present themselves it may be easy – too easy – for a doctor to latch onto it, to the exclusion of other things.  Small child – possible growth hormone.  Breathing difficulties – asthma.  Tendons fused and crack in spine – Spina Bifida Occulta.  Malignant Hyperpyrexia and weak muscles – congenital muscular myopathy.

Now, of course – well five years ago – I suddenly got told that while I do have those other things I present as having a form of Congenital Myasthenic Syndrome (CMS)  too.  I’ve been told that there could be crossover in the symptoms and causes – rather than the tendons being the spina bifida ,for example, it could have been the CMS.  The breathing isn’t asthma, I know now, but it is because my breathing muscles, especially the diaphragm, simply don’t do what they are meant to do.

Now, I’ve been told it isn’t impossible to have all those things at the same time, just that it is uncommon – that it is rare.  That it is, like most of the rest of me, atypical.

… and there we have that word again, don’t we?  And it makes me wonder – and worry – that perhaps it isn’t three things they have discovered, that it may be something else that they haven’t seen yet or, worse, something that they don’t even know about yet (like the Higgs Boson, I suppose, I’m waiting to be discovered by a scientist – just need my own, personal, Large Hadron Collider! :)).

I sometimes feel, especially when looking back at all of the ‘pieces’ throughout my life, pieces that could – and eventually did – lead to multiple discoveries of multiple underlying issues, any or all of which could be THE definitive issue, that I am nothing more than a jigsaw puzzle.

Unfortunately I am a puzzle with many pieces, with a plain box, and no straight edges; I’m a puzzle that is made up of similar colours and patterns – maybe even just an all, black, puzzle; I’m in a box with hundreds of other puzzles, all complex, all complicated, all slightly different – all atypical.

Many pieces, many puzzles, and no-one quite knowing how to put it together.

That is kind of how I see rare diseases, and kind of how I see myself and how I live with mine.

That is WHY I’m doing this – why I’m rambling on about myself, or the conditions, you see.  It is dreadfully hard to diagnose rare diseases simply because they ARE rare – so the more that doctors, and the medical profession as a whole, know about them the more that they will be able to help other people.

The more that they know about me, the more that they will potentially be able to help others like me.  That maybe, by doing this, I am a piece in the bigger puzzle … and some day another piece, of another jigsaw, will hopefully fall into place.

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Rare Disease Day 2012If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

[Guest post] Ataxia – a Rare Disease Day Post

Since posting my first rare disease day post, only six days ago but it feels like a lifetime, many people have contacted me.  Some of been telling me how they were impressed by my honesty, or bravery, or even my sense of humour (I actually like getting praise for that one!); some were giving me their thanks for putting words to their feelings; others were grateful because they didn’t feel alone in what they had gone through, or were still going through; then there have been the people who’ve contacted me to let me know that they have something to say as well.

This is one of those:

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“Rare Disease Day -29th February”

On this day we mark the day and recognise the outstanding, but “overlooked” issues that citizens with a Rare Disease are faced with on a daily basis.

Events Worldwide, on local, regional and International are taking place- and you can be part of this very meaning full day- just by taking part, you are raising the awareness of Rare Diseases.

There are approx 6000 Rare Conditions (possibly more) many of these are “invisible Disabilities” and go un-noticed by many people.

 Ataxia logo

“Ataxia  could be the most serious condition you’ve never heard of”

Ataxia is an incurable degenerative Neurological condition, it affects balance, speech and co-ordination.

I have Cerrebellar Ataxia a life limiting invisible condition that has made me give up my job as an electrician and rely on the care of my girlfriend.

I am chairman of Ataxia South Wales. A branch that covers a HUGE area, encompassing 6 health boards and 16 local authorities. We are a branch of National charity Ataxia UK.

We are based in the West of Wales, on the county boarder of Carmarthenshire and Pembrokeshire, which is very rural and this alone brings its own challenges.  We have recently set up a support group in Cardiff to cater for the East Wales membership.

Having Ataxia is very frustrating, not being able to carry out the daily tasks, that you used to do, getting used to watching others do “your work” and relying on others, constantly, for your care and wellbeing.

I spend a lot of time using the computer communicate to others on disability or Neurological issues, this is made possible with many online facilities, facebook http://www.facebook.com/pages/Ataxia-South-Wales/112678352094257?v=wall#!/pages/Ataxia-South-Wales/112678352094257?sk=wall and “online” network Livingwithataxia.org , a International rare disease community which I moderate (this is just one of my online inputs, as there is so many, I think to keep an active mind and as  mobile as possible to make life as normal as can be.

Ataxia South Wales is proud to be “spreading the word” about this “invisible” disability, on a local, national and international level with its attendance at many conferences including the Ataxia UK annual conference and the National Ataxia Foundation conferences in the US.

 

Alan Thomas

Ataxia South Wales chairman

Ataxia UK Trustee

Livingwithataxia.org  UK moderator  http://www.livingwithataxia.org/

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

[Guest post] Butterflies and Battleaxes – a Rare Disease Day Post

Rare Disease Day 2012“We delight in the beauty of the butterfly, but rarely admit the changes it has gone through to achieve that beauty.”  ~Author Unknown

They say that a picture can paint a thousands words, don’t they?  Well, today, I want to let Mercedes’ words paint a picture for you … a picture that I am sure you will agree is beautiful not despite of, but because of, everyt change, metamorphosis and discovery made along the way.

Butterflies and Battleaxes ~Mercedes M. Yardley

 

 

Williams Syndrome logoWilliams Syndrome is a rare genetic condition that occurs in about 1/10,000 births. It occurs randomly across both genders and all ethnicity. It has a myriad of medical and developmental problems, including hypercalcemia, aortic stenosis, pulmonary stenosis, low birth weight and weight gain, characteristic facial appearances, hyperacusis, musculoskeletal problem, hernias, kidney problems, dental abnormalities, irritability, a starburst or lace pattern on the eyes, problems with sleeping, blood vessel problems, excessively social personality, unusual skill in music and language, developmental delay, learning disabilities and attention deficit.
Although symptoms may be treated, there is no cure.

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Mercedes M. YardleyMercedes M. Yardley wears red lipstick and poisonous flowers in her hair. She writes whimsical horror, nonfiction, and is the nonfiction editor for Shock Totem: Curious Tales of the Macabre and Twisted.

To find out more about her please visit:  http://abrokenlaptop.com/

 

 

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

[Guest post] Let it fall – a Rare Disease Day Post

Rare Disease Day 2012You know how, in the movies, they sometimes show a relationship that takes place across the miles, across the universes, across times or even just across the internet?  You know the sort: ‘Sleepless in Seattle’, ‘The Lake House’, ‘Frequency’ or the like.  Two people who’ve never met but mean something to one another regardless?

… before I go any further I should reassure both Luke and Carole (our spouses … and, for the record as you never know, Luke is Mercedes and Carole’s mine! ) that the relationship that Mercedes and I share is not a romance but more like a bromance where one of the bros is more feminine than the other (you can work out who that is, I hope!).  Ours – Mercedes and me – is not so much the love that dare not share it’s name as one that shouts it from the rooftops, gladly: friends!

So, as I said up there, I’ve never met Mercedes Yardley, only spoken to her via the internet.  However as Stephen Hawking hasn’t actually ‘spoken’ in many decades but still I am – among so many – inspired by his ‘voice’ I think that it is fair to say that Mercedes and I can be friends virtually.  Not only can I say it but it is true too!

There is also the matter that should … or when … we actually meet the Universe will end from a simple case of awesome exposure overdose!  So either the Mayans were right and they’re counting down to Mercedes meeting me or we’re doing you all a favour by staying at opposite sides of the World!

Anyway, Mercedes is a strong person, honestly one of the bravest and most special people I know.  She’s been through a lot but does it with a strength that I envy – and always with a killer smile to boot.

These are her words:

Let It Fall

Williams Syndrome logoWilliams Syndrome is a rare genetic condition that occurs in about 1/10,000 births. It occurs randomly across both genders and all ethnicity. It has a myriad of medical and developmental problems, including hypercalcemia, aortic stenosis, pulmonary stenosis, low birth weight and weight gain, characteristic facial appearances, hyperacusis, musculoskeletal problem, hernias, kidney problems, dental abnormalities, irritability, a starburst or lace pattern on the eyes, problems with sleeping, blood vessel problems, excessively social personality, unusual skill in music and language, developmental delay, learning disabilities and attention deficit.
Although symptoms may be treated, there is no cure.

#

Suddenly it seems like life is divided into two time periods: before and after Niko’s diagnosis. There are the dreams that we had before and the now the reality that has drastically deviated from its planned course.
We don’t tell people about Niko’s diagnosis for a very long time. It isn’t because we don’t trust them or their love. It isn’t because some are worthy to know and others aren’t. It isn’t dependent on the level of friendship and whether or not we think they could be a support to us. Nothing is that well thought out.

Luke and I tell our parents because we are all extremely close. There isn’t any way to describe how that feels. Do this: pick up your phone. Pretend that the people who love you the most are on the other end. Say, “Mom, Dad…something is wrong with my child.” Even though this is only an exercise and perhaps not anything that is true, don’t you still get that rush of panic? Did you feel your stomach fall? Now imagine that it is real, and you get this feeling every time that you think about this new diagnosis, which is about every two seconds.

His parents tell us that faith will get us through. My parents tell us that the diagnosis doesn’t change Niko. He’s exactly the same little boy that he was before he was diagnosed. Both parents tell us how much they love us. They both remind us how much they love our son.

We tell a few of our closest friends. These are the people who sweat with us while we wait for the FISH test results to determine if Niko does, in fact, have Williams Syndrome. They are the ones who love Niko for Niko and cry as hard as we did when the results come back. They search the libraries and Internet, giving us print-outs and whatever snatches of Williams information that they can find.

“I think I knew a girl in high school who had Williams Syndrome,” my friend Marilyn says one day. “She was pretty nice. She had somebody help her with daily living, you know, but she was high functioning.” So there’s hope, is what her tone tells me. I’m very grateful for it.

The hospitalizations and struggles are borne in relative secrecy. Luke is still working hard at his MBA program and I hardly see him. Sometimes I call him and say that Niko is back in the hospital with some new thing. Hypercalcemia or RSV or more tests. Sometimes I ask him to bring me a change of clothes, but eventually I learn to keep a week’s worth in the trunk of the car. Luke swings by when he can, but time is very scarce. His job is getting his degree and getting employed somewhere with great medical insurance. My job is Niko. I set up the doctor’s appointments. I spend hours on the phone trying to find special low-calcium formulas that won’t make him vomit or seize. I stop seeing many of my casual friends. Some ask me why. Most don’t.

Word gradually leaks out. One day a rather cold woman in our church runs up and throws her arms around me. The hug is awkward and bony. I hug this normally distant woman back and raise my eyebrows at Marilyn. Marilyn shrugs.

“I just heard about Nikolai,” the woman says. She is struggling not to cry and my heart melts. “I am so sorry. So, so sorry.”

I have never told her, but this difficult, uncomfortable hug is one of the most cherished moments in my life. I will remember it forever.

Soon everybody knows. The reactions vary dramatically. Some people act like nothing has changed and it’s life as usual. Others act like the world has caved in on us. Still others act like Niko is already dead.

We mourn it like death, in a way. While I am still fortunate enough to hold my warm, snuggly child, I am forced to let go of my dreams for him. Luke speaks Russian and lived in the Baltics for a few years. We had planned to get his degree and move to Russia. But Niko exhibits the severe heart problems common with Williams Syndrome and moving out of the country is now out of the question.

I’m 24 years old and realize that I might have a child living with us forever. I see my future and it isn’t a glamorous career like I had always envisioned; it is full of hospitals rooms and signing papers of consent .

Many of my hopes for Niko do die, and it would be dishonest to deny it. Visions of his junior prom and wedding are replaced by very real concerns about whether or not he’ll ever be able to use a knife by himself. But he is still my child. He is still my son. The very heavy future doesn’t mean that I don’t still enjoy his giggles and his wide, inquiring eyes. It doesn’t make him anything less to me. Unfortunately the world doesn’t look at him in the same way.

But perhaps the most common reaction is the most heartbreaking one. “Why didn’t you tell me?” I look into many, many sets of teary eyes. These are people who are hurt that I didn’t share my news with them. People I see in the grocery store. People that I knew long ago.

This is why: every time that I mention it, my world moves under me again. Every time I say, “Hey, you know, this is the struggle that we’re going through,” it becomes something more, something unbearable.

“So what are you going to do about school? How can you afford the treatments? Will he ever learn to read? Will he ever get married?” they ask.

“I don’t know. I don’t know. I don’t know,” I answer. I don’t know what information to give. Do I describe how horrifying things really are for us? Do I say, “I can’t sleep. I forget to eat. Sometimes we deal with it very well because he’s our son and we love him, but sometimes I’m on my hands and knees vomiting because the reality just hit.” Nobody wants to hear that much information. But if I say, “Oh, things are all right. I broke a Cheerio into four pieces and he ate one without throwing up,” then they assume that everything is fine. It isn’t fine. On our very best days when things are working absolutely perfectly, they still aren’t fine. We struggle with the simplest of things. Sleep. Meals. Niko doesn’t sleep through the night until he’s sixteen months old. I become so exhausted that I begin to hallucinate. I fantasize about jumping off our balcony and into the traffic below just because I want to rest so badly. This isn’t fine.

After the initial “Oh no!” reaction dies down, many of our friends begin to wander away. Some are very concerned for quite a while. They bring us meals. They call and leave messages on the phone. They take special care to invite us out. But I don’t have time to wash and return their dishes right away. I’m in the hospital and don’t receive their messages until the events have already passed. I fall into bed at night, catch 30 or maybe 40 minutes of sleep, and then haul myself out of bed to the sound of Niko’s screams. I am not a good friend. I can’t reciprocate at this time. I’m exhausted and terrified and I miss my husband, who is still inching towards his degree. I’m no longer the life of the party. I’m not even fun. I find that I can do nothing except wrap myself around my family and let everything else fall.

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Mercedes M. YardleyMercedes M. Yardley

Mercedes M. Yardley wears red lipstick and poisonous flowers in her hair. She write whimsical horror, nonfiction, and is the nonfiction editor for Shock Totem: Curious Tales of the Macabre and Twisted.

To find out more about her please visit:  http://abrokenlaptop.com/

 

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

 

In the beginning – a Rare Disease Day post

Rare Disease Day 2012I was asked about this so I thought that it was as good a topic as any for my day three post on raising awareness about rare diseases.

How did I find out that I had a rare disease?

I died.

The end.

OK, that isn’t completely true, now is it? No, that last part, where it says ‘the end’ obviously wasn’t so. However, the other part was.

Let’s go back a bit further though; I didn’t seem to want to come out of the womb and so was delivered by forceps. That ‘may’ be a little too far back but as one of the consultants said that any birth complications could be relevant it was worth mentioning … maybe the fact that I was born on the 29th February is relevant too, as that is sort of rare ;)

Anyway, I wasn’t especially ill, or sick, as a child – at least not to the extent that I was obviously ill, or sick, in terms of being diagnosed with a rare disease; that came about 16 years later. I wasn’t especially sporty, and had more than average time off school with bugs and the like. I was also shorter for my age than was average. I went through a ‘phase’ f passing out, or fainting, or losing consciousness for a while too but that was never pinned down to anything in particular and simply seemed to stop (weird, I know). On top of that my Achilles tendons didn’t grow with the rest of me though, for quite a while the doctors that looked at me put it down to ‘attention seeking’ … yes, that’s right, they thought that a small child, who moved around a lot due to his father’s job, thought that it would be fun to bring MORE attention to himself by walking around on his toes so that other kids could call him ‘Twinkle’, or ‘Ballerina’ (they were the nicer names, so let’s leave it there).

Thankfully, at some point, my parent’s barraging of the doctors hit home with (from what I recall) a crusty old Royal Air Force doctor who actually realised that I wasn’t choosing to walk on my toes but, rather, that my feet simply couldn’t touch the ground as my tendons were too short (obviously many years at medical school doesn’t always make these things obvious … I blame the fact that most doctors are content with ‘practising’ their profession instead of getting good at it! ;) ). Upon hearing this news my folks made the decision that any parent would do … they packed up and moved country.

Seriously. We were living in Cornwall, at the time, and when a diagnosis (at least of they why I walked funny, not of the why behind the why, just yet) was found my mother, myself and my sister moved to Northern Ireland where one of Europe’s top orthopaedic hospitals (Musgrave) is based. My father had to stay and work out his notice so it was a major disruption to my parents lives … he basically retired early and separated (for a while) from my mother and us, so that I could get the best medical treatment possible. Now this was back in the late 80’s so there was no Skype, no mobile phones (at least not easily available) and as he worked in the military he wasn’t always at the end of a landline phone.

They put themselves through that separation from each other, and him from us especially, for me.

Thankfully it wasn’t for long, but that is at the end of the story.

Now I was living in a new country (again) and about to go to a strange school (again) but this time I had the combined issues of being noticeably different as I walked with a pronounced and prominent problem (tip of my toes) and had a very English accent in Northern Ireland. So, yes, the ‘attention’ was firmly on me especially as I was in the same year of school as my peers but I’d taken a few of my O levels / GCSEs early so didn’t have to do the same lessons as them, instead getting to sit in luxury of the sixth form ‘den’ and study on my own time.

English accent – weird feet – brainy – allowed to study on own.

Oh, yes, attention was great.

Anyway, I had some benefits too; we were living in my parents home town so I had some (probably a few hundred, it is Ireland after all) relatives at the school, including a couple of BIG cousins who did shelter me from some abuse (mostly by abusing others but, hey, that worked!) when they could.

After a relatively short wait I attended Musgrave and a specialist consultant there who tried some physio and special shoes (raised supports that were lowered a little to try to bring my heels down) but this proved ineffective pretty early on. During this time I had numerous, numerous tests and at one point my folks were told that the doctors knew what was wrong as they’d discovered a split in my spine: I had spina bifida occulta.

There was some shock at this as while a diagnosis – and a reason for the why my tendons hadn’t grown with the rest of me – was very welcome it is still very hard to hear words like that. It wasn’t for me, to be honest, because I didn’t fully understand what it meant; neither did my mother (my father still being in England at the time) but she knew enough to be scared of the name of the problem. Surgery was thought about, to fuse the spine, but this was discounted as not being necessary as my symptoms were pretty mild (other than the tendons) and the risks high. So the decision was made to operate and perform a two-fold surgery – release the tendons, slightly and then add something to elongate them (not quite the six million dollar man, but at least ten or so thousand dollar boy ;) ).

Then I died.

Sorry, I jumped ahead a little there, but this time not by much. First of all I had the surgery (which was a success from the perspective of what it was intended to do) but, during it, I suffered from malignant hyperpyrexia – my temperature went up, my heart and breathing increased, I was pumping out carbon dioxide to such an extent that Kyoto would’ve been interested, my muscles were cramping and becoming too rigid … and then I stopped.

I died.

Finally, I’ve got to the start of the story again. Simply put, from a clinical perspective, I died. Only a little, I suppose, and it didn’t take as they managed to get everything started again but, for a moment, I was dead.

Obviously they wanted to know why and, after a LOT more tests, including a muscle biopsy, it was discovered that I had what they referred to as a congenital muscular myopathy.

And that, my dear readers, was how I found out that I had a rare disease.

… the first time.

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

The difference a day brings – Rare Disease Day post.

Rare Disease Day 2012

Rare Disease Day 2012

OK, so the acceptance part of things seems to have gone well as not only did I accept that I have a ‘rare disease’, I wrote about my experiences of having one AND – after more than a little deliberation, I hit the post button too!

That means that anyone who has access to my blog, my Twitter feed, my LiveJournal or my FaceBook had access to my post – had access to ‘me’.

I work in I.T. so, intellectually, I knew what that meant: thousands of people had DIRECT access to that information with the potential for millions more if they were linked to it, goggled it or simply stumbled upon it.

Millions of people had access to the fact that I had an illness … a weakness. For the first time in a loooooong time people had access to the ‘real’ me.

Now, thankfully a few things happened when that realisation hit me:

1 – I had a moment of pure panic when I went from intellectually knowing what I had done to realising, at a visceral and primal level, what this actually meant!

2 – I then had another realisation – tough! Nothing that I could do about it after I set it loose as that isn’t the way that the Internet works.

3- Then the biggest realisation of them all washed over me. It didn’t matter; it didn’t change anything! I wasn’t suddenly any ‘more’ genetically challenged (tongue n cheek there, I just love how that phrase sounds!) – this wasn’t a case of me becoming some sort of personal self-fulfilling prophecy and by simply admitting, out loud (so to speak) that I was ill that I actually was suddenly ill.

Nothing had changed.

… and, yet, everything had.

My wife read the blog post before I actually told her that I had done it. I think that if I had talked about it first I wouldn’t have been so honest about things, if I had written it at all; by talking about doing it I would have been able to make excuses and justify not doing it. So, I got home to a big hug and a kiss from her (she especially like the comments about her being wonderful for some reason) and that set the tone for the GOOD things that came out of my original post.

People were talking about my post, and rare diseases in general so awareness was being raised … if that awareness started with talking about me, then my disease, then other diseases so be it. They were still talking about it!

I had messages from people who are affected by rare diseases telling me that my post helped them – that it gave them a voice for their own questions, fears, and denials.

I had messages on email, Twitter and Facebook telling me that they were proud of me, or amazed by me and many actually expressing confusion at the fact that they had never known I had had a problem in the first place … that’s how good my mask was, you see. However, during and after these messages I realised that I was still talking to, and with, my friends the same way that I always had. They weren’t treating me any differently, they weren’t suddenly treating me like a pariah or an invalid.

They were simply treating me like me. For the first time, of course, they were able to do that because they knew about all of me, not just the part that I allowed them to know.

Somehow that actually made a difference. I felt humbled and more than a little awed by the things my friends were saying – because they were saying such amazing things about me and, really, all I had done was let them know about something I had no reason to hide anyway.

I’m still me, inside and out – I’m still tired, I’m still probably doing too much and ignoring my limits, I’ve still got some gremlins inside my genes doing their best to make things go a little left of right – but, I’m not spending any time hiding those things, nor thinking about how to hide them. If I show a sign of weakness then I’ll also show a sign of strength at the same time simply by doing what I do and being the whole, and complete, me.

Sure, every day is a different day – there will be days where my muscles cramp, or I’m so tired that I can’t actively play with my kids but there will be days where I’m pretty ok. That’s the other difference that a day brings with a rare disease – uncertainty but, THE difference today has brought is a certainty: rare disease may be a part of me, but it isn’t all of me so if I’m not going to let it beat me into submission then I’m damn sure not going to hide from it either!

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease