A rant – a Rare Disease Day Post

“Anger is a killing thing: it kills the man who angers, for each rage leaves him less than he had been before – it takes something from him.” ~Louis L’Amour
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As the subject says this post may get ranty … just wanted to warn you, in advance, in case you are expecting my regular fluffly, light and (attempted, at least) humorous witterings.

I got an appointment through, on Friday afternoon, telling me I had a lung function test on the Tuesday; this day wasn’t really suitable, as I had a funeral to go to, but as I didn’t receive the appointment card until the Friday I wasn’t able to give the 2 full days notification of a cancellation/change so when I asked for even just an hours delay (put back to 2:30pm instead of 1:30pm) I was told that it wasn’t possible and I would simply be removed from the waiting list and my consultant would have to rearrange at another date.

So I missed the funeral and went to the appointment … though, at the end, I’m not sure why I bothered.
To start with the reason for the test, as specified on the referral (though I still don’t know from whom) was simply ‘shortness of breath’. I don’t get shortness of breath; occasionally, when suffering from an infection for example, or after exercise, it can be harder to breathe … as in I have to work harder … but I don’t have shortness of breath, or a wheeze, such as with asthma or COPD, etc. What I have is restricted lung function due to diaphragmatic weakness due to a predefined muscle condition or conditions (ie muscular myopathy and myasthenia).

When I queried that reason for the test, asking if it was perhaps from the neurology point of view, they didn’t have any of my background information – at all. They had my name, address and date of birth and the fact that I suffered from shortness of breath.

That wasn’t really a big issue however when being taken through the permission form, and one of the side-effects being ‘fatigue’, I made a joke out of that being a regular occurrence anyway and that I was prepared to be tired/achey for a few days. This was very pointedly dismissed as ‘just a bit of exercise’ and that I should ‘pop two paracetamol’ and I’d be fine.
So, did all the pre-tests in terms of spirometry readings (blowing into the tube repeatedly) then got fitted out for the treadmill part. I’ve done this test before so knew what to expect – nose is pinched, snorkel type fitting in mouth, leads/cables from body and then increasing speed and incline on a treadmill for a longish duration. Not the easiest of afternoons, admittedly, but not the end of the world either. About halfway through the combination of incline and speed was starting to take its toll … I could feel my legs turning to jelly and found it harder to keep my stride / pace fast enough so my feet were getting closer to the end of the treadmill. Supposedly my breathing also went ‘erratic’ at this point (quelle surprise) and I was asked, repeatedly, if I wanted to stop. I, repeatedly, said no and just kept on pushing as hard as I could because that is ultimately the rational for the test. I think that, on the fifth ask if I wanted to stop they decided to stop anyway, regardless of me saying no, as I was told that they had a lot of good information collated.
They stopped the treadmill and asked how I was feeling. I pointed out that my legs were shot, my left arm was shot and my jaw/face was shot … and that my breathing was harder but, all in all, I was ok (keeping in mind my definition of ok equates to not being dead, or in hospital). They pointed out I didn’t look or sound ok.

Anyway, redid the spirometry tests – breathing in and out through a tube, either for an extended period or short/sharp blows, and it was remarked that the results weren’t as good. After exercise my lung capacity, and ability to breathe, was affected; the doctor also remarked that my left leg and hand seemed weaker than before and moreso than my right.

I was then taken to do another breathing test – where I think it is muscle pressure that is tested – and a snorkel tube put back in my mouth and I was told to breathe in slowly then exhale as fast as I could. I did that, and was told it wasn’t very good, could I try harder. I did this a second time with much the same results so was told to try the other way – breathe out slowly then inhale really quickly. Did this to be told I wasn’t trying hard enough and could I try again. At this point I tried again but kinda got confused between breathing in and out and screwed it up and asked if I could try again; so the guy taking the test went off to see doctor then I was called back in.

This is where the ranting starts (yes, that stuff above is ranting):

I was asked if I thought that I had tried my best on the tests. The person taking the final lot thought that the poor results may be down to ‘insufficient effort’, you see.

Now, I pointed out that I had just taken some breathing tests, then run on a treadmill –refusing to stop when asked if I wanted to do so – then repeated the tests again, and then finally had been asked to do a further couple of tests which I had admittedly screwed up on one of them. Now, when I say screwed up I should point out that, at this time, I was having trouble opening/closing my mouth to either put the thing in or worse get it out again … my mouth and cheeks just didn’t seem to be responding as well as before when I wasn’t knackered so the test was physically difficult as well as tiring.

Anyway, I volunteered to do the final test – or any of the tests, including the treadmill – again, there and then, as I was REALLY frustrated by the attitude. The doctor said it wouldn’t be needed as the results had been collected.

… then the kicker came. He said that, in his opinion, my lungs were perfectly fine but the initial results pointed towards there being an issue with my muscles.


So, not only had it been implied (if not directly stated) that I wasn’t trying hard enough in the tests – when it was actually that I had nothing left to give but still tried my best but the results weren’t what they were expecting – but also that the only meaningful results from the tests seems to be to tell me what I already know … lungs work fine but the muscles around them doesn’t.

I pretty much just got ready to leave then, though admittedly neither the doctor nor the nurse thought that I looked capable or healthy enough to drive, went home and then promptly collapsed on the sofa before, eventually, going to bed. I think that, all in all, I had about 16 or 17 hours prone before getting up again today and STILL feel like a train wreck.
I wasn’t sure if I was angry, frustrated, humiliated, upset or any other adjective to describe how I felt when I left there yesterday – partly due to the inference or allegation of ‘not trying’ and partly due to the result seemingly making the test redundant – but now I think that I am simply tired, physically, emotionally and mentally, with it all.

I know that the underlying cause of the symptoms is rare, and hard to diagnose, let alone treat, but when the medical profession itself seemingly doesn’t know what it is doing, or doesn’t care, then what is the point of doing anything at all in terms of research or treatment? I realise that doctors don’t – can’t – know everything but why should I be forced to go round in circles, in terms of tests and research, and then when I don’t fit the expectations of a predefined output for a doctor I’m suddenly to blame rather than his knowledge or experience possibly being wrong?

Anyway, it’s taken over two hours to type this – that’s how much effort it’s taken due to aching arms and a left hand that would prefer not to open, and normally I can type 2-3 thousand words in an hour or so – but maybe I’m just putting ‘insufficient effort’ into it.

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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!


@rarediseaseday #raredisease

National Short Story Week – Get Tweeting contest

Just checked Twitter to find this very nice way to start the day:

The winning @getwriting2012 -http://www.vwc.org.uk/getwriting.php - Get Tweeting entry was from @thejayfaulkner Congratulations! Your tweet will appear on the @ShortStoryWeek site – http://www.nationalshortstoryweek.org.uk/.

This was my winning entry:

It’s one of those days. Wake up late. Car won’t start. Moaning boss. Too much to do; no time to do it. Nothing going right, so I turn left instead.

2012 first novel choice

2012 novel teaser imageA few weeks back, give or take, I ran a little competition* wherein I let you lot – yes, YOU –decide which novel, out of a choice of two, I would focus my efforts on writing.

These choices were:

-  an urban/supernatural fantasy piece, with elements of hard-edged/noir-esque pulp, about a Muslim, female, tattoo artist who has to fight the bureaucracy of the local cops when a shipment of ink that she ordered from the Middle East turns up with a dead body enclosed. That is the least of her worries, however, when something else that travelled with the shipment breaks free and is out for blood – specifically hers.

… and/or …

- an Old West, horse riding, gun slinging story that quickly turns into survival horror featuring girls in peril, boys in peril, girls as saviours, boys as saviours and zombies.  Yes zombies.  This story takes place over there very distinct time-periods (let’s call them past, present and future – though that isn’t ‘quite’ correct) and, while it features zombies it is not ABOUT zombies.  Not really, anyway.

Anyway, the votes have been counted, and verified by our independent adjudicators** and, I can now reveal to you the story that the majority wish to see first; after a suspense building drum roll …


Ladies and gentlemen, please be upstanding and full of expectation for the imminent arrival of Laila Suleiman, tattoo artist extraordinaire, person of lapsed faith, and all round hard ass who bites off more than she bargains for when she faces …

… oh, but that would be telling, wouldn’t it?  I’d rather show (HA, insider writer joke, there!) you what happens next and, hopefully, I’ll get that chance later this year.

For now, though, I have somewhere between 80,000 and 100,000 words to write, so off I go!



*feel a bit weird calling it a competition when there were no prizes but, then again, it was good enough for Stan Lee.

**ok, I did the counting and the checking but, considering there were about 10 votes for option one to every 1 vote for option 2 it was pretty easy.

***there isn’t actually a third thing to comment on, but just liked the little stars!

The Curious Psychology of “Disability” – a Rare Disease Day post.

“What’s in a name? That which we call a rose by any other name would smell as sweet.” ~William Shakespeare
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The Curious Psychology of “Disability”

I’ll start this post with a brief clinical vignette:

I have been seeing Frank, a 44 year-old man, on a regular basis for about six months.  He first came to our community clinic with generalized, nonspecific complaints of “anxiety,” feeling “uncomfortable” in public, and getting “angry all the time,” especially toward people who disagreed with him.  His complaints never truly met official criteria for a DSM-IV disorder, but he was clearly dissatisfied with much in his life and he agreed to continue attending biweekly appointments.  Frank once requested Xanax, by name, but I did not prescribe any medication; I never felt it was appropriate for his symptoms, and besides, he responded well to a combined cognitive-interpersonal approach exploring his regret over past activities as a gang member (and related incarcerations), feelings of being a poor father to his four daughters, and efforts to improve his fragile self-esteem.  Even though Frank still has not met criteria for a specific disorder (he currently holds the imprecise and imperfect label of “anxiety NOS”), he has shown significant improvement and a desire to identify and reverse some of his self-defeating behaviors.

Some of the details (including his name) have been changed to preserve Frank’s privacy.  However, I think the general story still gets across:  a man with low self-worth, guilty feelings, and self-denigration from his overidentification with past misdeeds, came to me for help.  We’ve made progress, despite a lack of medications, and the lack of a clear DSM-IV (or, most likely, DSM-5) diagnosis.  Not dramatic, not earth-shattering, but a success nonetheless.  Right?

Not so fast.

Shortly after our appointment last week, I received a request for Frank’s records from the Social Security Administration, along with a letter from a local law firm he hired to help him obtain benefits.  He had apparently applied for SSI disability and the reviewers needed to see my notes.

I should not have been surprised by this request.  After all, our clinic receives several of these requests each day.  In most cases, I don’t do anything; our clinic staff prints out the records, sends them to SSA, and the evaluation process proceeds generally without any further input from us (for a detailed description of the disability evaluation process, see this article).  But for some reason, this particular request was uniquely heartbreaking.  It made me wonder about the impact of the “disability” label on a man like Frank.

Before I go further, let me emphasize that I’m looking at Frank’s case from the viewpoint of a psychiatrist, a doctor, a healer.  I’m aware that Frank’s family is under some significant financial strain—as are many of my patients in this clinic (a topic about which I’ve written before)—and some sort of welfare or financial support, such as SSI disability income, would make his life somewhat easier.  It might even alleviate some of his anxiety.

However, in six months I have already seen a gradual improvement in Frank’s symptoms, an increase in his motivation to recover, and greater compassion for himself and others.  I do not see him as “disabled”; instead, I believe that with a little more effort, he may be able to handle his own affairs with competence, obtain some form of gainful employment, and raise his daughters as a capable father.  He, too, recognizes this and has expressed gratitude for the progress we have made.

There is no way, at this time, for me to know Frank’s motives for applying for disability.  Perhaps he simply saw it as a way to earn some supplementary income.  Perhaps he believes he truly is disabled (although I don’t think he would say this—and if he did, I wish he’d share it with me!).  I also have no evidence to suggest that Frank is trying to “game the system.”  He may be following the suggestions of a family member, a friend, or even another healthcare provider.  All of the above are worthwhile topics to discuss at our next appointment.

But once those records are sent, the evaluation process is out of my hands.  And even if Frank’s request is denied, I wonder about the psychological effect of the “disability” label on Frank’s desire to maintain the gains he has made.  Labels can mean a lot.  Psychiatric diagnoses, for instance, often needlessly and unfairly label people and lead to unnecessary treatment (and it doesn’t look like DSM-5 will offermuch improvement).  Likewise, labels like “chronic,” “incurable,” and “disabled” can also have a detrimental impact, a sentiment expressed emphatically in the literature on “recovery” from mental illness.  Therecovery movement, in fact, preaches that mental health services should promote self-direction, empowerment, and patient choice.  If, instead, we convey pessimism, hopelessness, and the stigma of “disability,” we may undermine those goals.

As a healer, I believe that my greatest responsibility and most difficult (although most rewarding) task is to instill hope and optimism in my patients.  Even though not all of them will be entirely “symptom-free” and able to function competently in every situation life hands them, and some may require life-long medication and/or psychosocial support (and, perhaps, disability income), I categorically refuse to believe that most are “disabled” in the sense that they will never be able to live productive, satisfying lives.

I would bet that most doctors and most patients agree with me.  With the proper supports and interventions, all patients (or “users” or “consumers,” if you prefer those terms) can have the opportunity to succeed, and potentially extricate themselves from invisible chains of mental illness.  In Frank’s case, he is was almost there.

But the fact that we as a society provide an institution called “disability,” which provides benefits to people with a psychiatric diagnosis, requiring that they see a psychiatrist, and often requiringthat they take medication, sends a very powerful—and potentially unhealthy—psychological message to those who can overcome their disability.  To Frank, it directly contradicts the messages of hope and encouragement I try to offer at each visit.  It makes him dependent upon me, rather than upon himself and his own resources and abilities.  In other words, to a man like Frank, disability is anti-recovery.

I don’t have an easy answer to this problem.  For starters, changing the name of “disability” to something like “temporary psychological material support”—a substitute label, nothing more—might be helpful.  Also, rewarding recipients (e.g., not repealing their benefits) for meeting predetermined milestones of recovery (part-time work, independent housing, etc) may also help.  But the more I think about the life-affirming and empowering potential of recovery, and about how we allocate our scarce resources, the more I believe that the recovery-based—as opposed to disability-based—practice of psychiatry has much more to offer the future of our patients, our profession, and our nation, than the current status quo.  For the sake of Frank’s recovery, and the recovery of countless other men and women like him, maybe it’s time to make that happen.

Steve Balt, MD


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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!


@rarediseaseday #raredisease

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


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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!


@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


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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!


@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!


@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!


@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!


@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!


@rarediseaseday #raredisease