Green eggs and ham

As the more eagle-eyed of you – or perhaps just those of you who are awake, paying attention, and had your medication – will remember in February 2012, during the lead up to Rare Disease Day 2012, I ‘outed’ myself.

Now, before any of you get the wrong idea I didn’t come out as gay as I’m not that way inclined – not that there is anything wrong with that, of course, and not that I possibly wouldn’t be tempted if Ryan Reynolds turned up at my door with flowers and a smile – I just happen to prefer women; and, by women, I do mean woman as I am extremely, happily, married to a wonderful one who may be a tad annoyed if I suddenly became polyamorous though, again, if Sandra Bullock came begging at my door … but I digress.  When I say outed I simply mean that I made it publically known that I lived with (not suffered from, remember!) a rare disease or two.  If you want to know more about that you can easily find out by looking back through my blog posts.

I’m lucky, I know that.  My muscles are weaker than average, I fatigue faster than normal, I don’t have a very good track record with breathing as well as regular folks, and if I get ill it can hit me in a big way.  However I lead a relatively healthy and active life; yes, I do have to make adjustments to what I do, and plan activities around how much energy I need to use versus how much I want to risk not breathing  … so hills, lots of stairs and arduous stuff is completely out of the window … but, on the whole, I’m not majorly affected (by my terms).

If you passed me on the street you may admittedly remark on how amazingly attractive, witty and urbane I appear (of course you’d be right on that and, in many ways, that is my real disability – being a paragon of awesome in a world that hates and fears us pretty folk) but unless you were very observant you probably wouldn’t pick up on any of my disadvantages – yes, I walk a little slower, my breathing may be laboured, I may not be lifting/carrying as much as you’d expect but, on the whole – as I’m not in a wheelchair, don’t use walking aids often, or have medical devices strapped to me – you’d probably think that I was pretty normal.

However last couple of days two things happened that, being honest, shook my foundations a little.  The first was an internal thing; I was baking a cake (a German, sour-dough, friendship cake with desiccated coconut, almond and cocktail cherries – delicious in case you were wondering) which was rather thick and stiff.  While stirring and mixing the ingredients I suddenly realised that I actually WASN’T stirring or mixing the ingredients … the spoon wasn’t moving.  I tried very, very hard to stir it; I changed my grip on the bowl, I changed my grip on the spoon, I changed hands, etc.  Pesky thing wouldn’t move.  So I did the obvious thing – I called my wife and got her to stir it.  Obviously … OBVIOUSLY … I knew that there was a fault somewhere along the line: the spoon wasn’t the right sort, the bowl was causing too much friction, the ingredients had morphed into super-glue, a nearby pinhole blackhole was exerting enormous gravity on the localised area of said cake.  Or something.  I knew … KNEW … that Carole wouldn’t be able to stir the stuff either.  But she did; rather easily too.

It was just that I wasn’t able to do it myself.

Now it was rather late in the evening and I’d had a busy day at work; I’d had a busy week/month at work too.  I’d had bronchitis within the last month and, within the last week, had had gastroenteritis so wasn’t at my best.  But it was still just stirring a simple cake mix; I should have been able to do that, surely?

No.  I couldn’t do it.

That was rather annoying.  That was rather frustrating.

… the cake, though, was rather delicious (which Carole maintains was due to her stirring, of course).

Next day – yesterday – I was at a work event, getting acknowledged for my greatness (true story; me and a bunch of colleagues were at a rewards and recognition lunch for our continuous professional development in terms of qualifications and specialisms)  when I was asked by a colleague if I was ok.  I asked why and he said that I looked like I had been punched in the eye (or was having a stroke – he actually was very concerned).  Now I was tired and sore and … well think of any negative adjective for being as weak as a weak kitten and still trying to function at 100% which is pretty normal for this type of genetic muscular condition and you’ll get the idea … but, on the whole, didn’t really feel that much different to any other day.  I went into the bathroom to have a look at what he was talking about and this is what I saw:

That is called ptosis.  Ptosis is a drooping or falling of the upper or lower eyelid which, as you can see by the photo, is pretty self-evident and myogenic ptosis is a known symptom in CMS (and other diseases) which basically means that there is a dysgenesis of the levator muscle … the muscle either isn’t 100% or it doesn’t function 100%.

Now as physical symptoms and ‘tells’ go for me in regards to my wonderful genetic mutations that isn’t a major one; it isn’t even particular debilitating.  I know this.  I’m rather intelligent so, mentally, I realise that a half closed eye doesn’t cause too much trouble (tired eye, headache sometimes, slightly weird/blurred vision) and isn’t normally noticeable when compared with using a wheelchair or obvious aids like that.

… but it annoyed me.  It frustrated me.  Someone had noticed that I wasn’t right and had called me on it.  My gloating in February that I had done something ‘big’ by admitting my issues was completely and totally challenged by my reaction to someone realising there was something wrong when I wasn’t telling them of my own choosing.

I didn’t like it, Sam I am, I didn’t like it at all.

I still don’t like it.

It has stayed with me and I am very self conscious about it now.  I’m checking my eye a lot, seeing if it is more or less open than usual … .not even knowing, really, what is usual.  I look like I’ve had botox as I’m trying to keep my forehead tight so that my eyebrows are raised, so that my lid is lifted a little.  It looks stupid and it is giving me a headache.

But I’m still doing it.

Because as much as I would love to say that I’d accepted this ‘thing’ of mine – as much as I’d love to be the bigger person and say that the little things don’t matter – I can’t.  I haven’t and they do.

However I’m posting this blog … and especially ‘that‘ photo … because I will try to accept it better, and will try to not let the little things (or the big ones) get to me.

Because without trying you never know if you’ll like the green eggs and ham, ‘ey Sam?

Around we go again.

Plus ça change, plus c’est la même chose … or, to put it another way, I’ve just come off ANOTHER trip on the magic roundabout.

This respiratory specialist – after months and months of test after test – confirms that I have muscular weakness (so restricted lung function and diaphraghmatic weakness) that would be asscoiated with the genetic condition BUT also thinks that I still have asthma too (aggreivated by a raft of allergies, some of which I knew about some I didn’t).

Last respiratory specialist said there was definitely no asthma and all symptoms were purely down to the genetic condition.

One before that said that there was definitely no asthma but had no idea about the genetic condition so was bemused by the symptoms.

Before that the previous respiratory specialist said all symptoms were down to asthma but had no idea about the genetic condition.

… next one will prpobably say it is because I have gills, or something like that!

You know I realise, completely, that my medical condition (or conditions) are both complicated and complex, and that the effects are subtle most of the time which makes it extremely hard to narrow down and give a firm diagnosis. However it would be nice, just for once, to at least have a small part of the overall picture that doesn’t keep changing!

Four little words – a Rare Disease Day post

Rare Disease Day 2012Do, or do not. There is no ‘try.‘” — Jedi Master Yoda

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It is now 29th February, which is important for two reasons – it is my birthday and it is Rare Disease Day.

Now depending on your perspective one of those is more important than the other. I’ll let you into a little secret and tell you which it is for me. I am a year older but don’t feel much different than I do any other day of the year … I’m tired, I’m sore and I feel like I’ve been hit by a truck, by that is normal some days; I had a really nice day, being spoiled by my wife and children … that is something that happens most days too, and I realise how lucky I am to have them; I’ve had a tonne of well wishes and greetings from all around the World, with people simply being nice to me … and I am so lucky, in my life, that that is a regular occurrence.

So, yes, it is my birthday – and it is a special one too, especially as it is a Leap Year, so a ‘real’ birthday, but ultimately it is just another day.

Rare Disease Day is so much more important than my birthday – than me personally – and that is why (instead of lazing around, opening presents, eating cake, etc) I spent the day at Stormont, home of the Assembly / Executive in Northern Ireland (our Government, basically) to help try to raise awareness and support for Rare Diseases here. Today was the day that the Northern Ireland Rare Disease Partnership was officially launched, along with a report by the Patient and Client Council, which captured how people were affected by rare diseases in Northern Ireland.

That report, based on a survey conducted of 132 people (both patients and carers) – one of which was me – affected by over 60 different rare diseases, reveals:

· 29% of patients wait between 1 and 5 years for a correct diagnosis and over 20% wait over 5 years;
· 34% of patients are misdiagnosed – 20% of which received inappropriate treatment as a result;
· Patients have to attend multiple appointments with different health professionals to obtain a diagnosis and it is frequently a battle to do so;
· 57% of people caring for a person with a rare disease do so for more than 20 hours a day;
· Over 40% of patients described their experience of the health and social care service in Northern Ireland as “poor” or “very poor”, and nearly a quarter described it as “average”. Only a third of patients described their experience as “very good” or “excellent”;
· Patients also reported feeling ignored by doctors, and that there is a lack of information and support for rare disease patients.

I sat there, and listened/watched the findings of the survey, the personal stories of people affected by rare diseases, the determination of the people behind the Northern Ireland Rare Disease Partnership, and even Edwin Poots (MLA) the Minister of the Department of Health, Social Services and Public Safety in the Northern Ireland Executive pledging his support and realised that I wanted to do more than I have been.

Admittedly that isn’t too hard. Until recently, as you know if you’ve been reading this blog for the last month, I didn’t even tell people that I had a rare disease myself so all I have been doing is using my own experiences as a sounding board for others. I don’t know if that has achieved much, or helped, but the responses I’ve got have been heart warming and humbling.

So I wanted to do more. At the conclusion of the event I spoke to the Chairperson of the NIRDP, Christine Collins and her colleague, Fiona McLaughlin, and told them about me. I didn’t really hold back at all – which is much harder in person than it is behind the safety of a keyboard – and I then told them about what I do for a living. At this point I took a very deep breath and told them that I wanted to help them in the amazing work they are doing for rare disease awareness and support in Northern Ireland … and they were very, very pleased to hear from me indeed.

So much so that I seem to have joined the Northern Ireland Rare Disease Partnership and am now going to be their IT/Social Media person.

I suppose that counts as me ‘doing something’, doesn’t it? :)

It made me think, though, about myself, how I live my life, and how I make my choices. I teach martial arts, as I’ve mentioned before, and one of the lessons I learned early on – and a KEY part of how I teach all of my students today … whether they are fit, able bodied, unfit, or physically different … is simply this:

Don’t tell me what you can’t do until you’ve tried – and then, if you really can’t do it, fine, tell me what you can do.

You see it is easy to say that you can’t do something, especially if you have never tried. It is even easy to use an excuse of a handicap, or physical limitation, as a security blanket – I know this, I’ve done it myself. Easy, however, isn’t the same as right.

Something that shouldn’t come as a shock to anyone is that life isn’t always easy. However it is something that we all have to do each and every day – the only alternative, after all, to living isn’t much of a choice we want to make ;) Too often I think that we all give up before we’ve tried, or think that simply trying is enough. It isn’t. Doing is what we should all commit to, not trying. Even if we fail we simply do it again, and again, and again until we can do it.

Or, if we really, really, can’t do it then we step back, have a break, think about it, and move on to something that we can do.

For me personally I am never going to be able to do something of the things that I would love to – I mean I’m not going to represent my Country in the Olympics (archery and/or fencing would be my choices) and I’m never going to be a World class, classical, violinist.

However this isn’t because (or at least not solely because) of my genetic peculiarities. There are seven billion people on this planet and how many of them represent their County at the Olympics, or play violin at a top level? Yeah, not many.

However, I don’t focus on what I can’t do – I’ve done SO many cool and amazing things: I’ve got four black belts in martial arts, I’ve swum with dolphins, I’ve played in front of a crowd in a rock and roll band, I’ve had my writing published professionally, I’ve worked for Marvel Comics (albeit it for only a few days :) ), I’ve driven across Europe on my own trike, I’ve got the two most beautiful and perfect children in the World, I’m married to an amazing woman who simply completes me, I learned to walk again, I didn’t die when I might have died, I’m in great shape, all things considered, and I have learned to know – and work within – my limits.

Do you know why this is?

I’ll tell you and this is as close to advice as I will come to giving anyone who is reading this.

Don’t ask this question:

What can you do?

Make this statement.

Do what you can!

It is the same four words, just changed around a little – and that is me, that is my life. I am the same as everyone else, I am the same as I would be if I wasn’t a member of the exclusive rare disease club, but I’m just changed around a little.  I just have to, sometimes, do things differently.

I decided either to do or not do. If I don’t want to do something fine. I don’t do it. But I don’t pretend that trying is the same as doing. They are two completely different things.

So I don’t ask myself what I can do, not anymore – and never again – I simply do what I can … I DO them; I don’t try.

Thanks for reading.

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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

Twice as hard – a Rare Disease Day post

Rare Disease Day 2012

Rare Disease Day 2012

“I do not think there is any other quality so essential to success of any kind as the quality of perseverance. It overcomes almost everything, even nature.” John D. Rockefeller

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In one of my previous posts I mentioned that I was really only diagnosed with having a rare disease, the first time, because of a pretty bad hospital experience.

My walking had been getting progressively worse, over a few years, mostly down to foreshortened / ‘tethered’ Achilles tendons. Simply put while the rest of me was growing at one speed my tendons either stopped growing, or became tangled up. Either way I was forced to walk on my toes, getting progressively higher and higher, as time went on.

Physiotherapy was tried, as was corrective shoes and splints, but nothing worked. My tendons were simply too short/tight to be fixed by anything short of surgery. So in late June I went into Musgrave Park Hospital, in Northern Ireland, where a top-class orthopaedic surgeon repaired my tendons … one part lengthening, one part additional material.

I woke up a few days later in ICU so don’t actually recall what happened personally; my mother does, unfortunately. It wasn’t a great experience as I reacted badly – very badly – to the anaesthetic and, due to malignant hyperpyrexia, pretty much died a little. Now, in most works of fiction, that would be enough to put a protagonist through, wouldn’t it?

Well, unfortunately for me, this was my real life and not a story.

I spent a few weeks in heavy plaster, both legs from the toes all the way up to above the knees. After that I had the heavy plaster casts removed and slightly lighter casts put on – again, both legs, up to the knees. Finally I had a fibre glass type cast put on (yes, both legs, up to the knees) but this time they had little plastic/rubber things on the bottom so that I could walk on them.

Only, I couldn’t.

Keep in mind that for about 6-8 weeks I had been in a hospital bed, ankles/legs still recovering from pretty major surgery, and with casts on that were very heavy. I hadn’t been mobile in the slightest so it came as a bit of a shock – for me, my family and the medical staff – to find out that I couldn’t move my legs.

I could feel my legs, though the sensation was muted, but I couldn’t lift them, move them or bear weight on them. Now, obviously, this was a few years ago now (24 ish) so all the details aren’t exactly clear but there doesn’t seem to have been too much of a worry at that point. I’d been in hospital for a couple of months, bed-ridden for the first two weeks, then in a wheel-chair thereafter … I’d even been allowed home for a weekend, at some point – this is very well remembered as I had to have a lot of help doing anything and my mum, bless her, pulled both legs out of bed at the same time and the weight of them propelled the rest of me out of bed, head over heesl, to the floor. I’d love to say that we laughed but, we didn’t; SHE did. For quite a long time as I recall!

Anyway it was only when the plaster casts were finally taken off that the extent of the trouble became obvious. My legs were obviously always going to be weak. They’d been constrained in one position for a long time. The fact that I still couldn’t make them move – the fact that my sensation was still negligible – and, most importantly, the fact that automatic reflexes (to pain and stimulus) didn’t do much at all suddenly brought home the fact that I couldn’t move. I couldn’t walk. My legs simply wouldn’t work at all.

Now this was rather worrying (that may sound like an understatement but bear in mind I’m British, with a military background, and you’ll see that ‘stiff upper lip’ is a well known medical condition too ;) ) and for a longish time I went through a LOT of testing and other medical stuff:

- I was fitted for plastic splints – full and half leg ones – that I would end up wearing for many, many months.
- I had nerve conduction tests, MRIs, x-rays, lumbar punctures and other things that I don’t recall.
- I was put through a really intensive regime of physiotherapy, hydrotherapy and rehabilitation.
- I was taught how to use a wheelchair and integrated into a community of other users – spinal injuries, amputates, etc. I actually have a trophy, somewhere, for winning a wheelchair-bowling tournament. :)

Over time I managed to get some limited movement and control back in my legs and was then transferred to different walking frames – starting with a contraption that I was strapped into from my chest down which basically supported all of me, then a full body walking frame, then a zimmer frame, etc.

Eventually I managed to take a few steps around the ward on my own, just on crutches. This was December 18th and a week later, December 24th a war of words took place between myself, my family and the medical staff and I was discharged – over six months after I had first gone in for a ‘routine’ operation.

Unfortunately, as we found out, nothing is ever routine when a rare disease is involved. My genetic quirks meant that I reacted badly to the anaesthetic and, ultimately, my muscles didn’t recover from it, the reaction itself, or the surgery, the way that they should have.

Six months in hospital, with a period of time wondering if you will ever walk again and getting used to using a wheel chair, is definitely not routine. However, getting OUT of the wheelchair and, eventually, making a full recovery, is also not routine. The majority of people who end up in a chair spend the rest – or the majority – of their lives in it so I realise how lucky I was, and am.

It took about 9 months, or a year, to actually get back to normal after leaving hospital. Obviously I still had to contend with the fact that my legs, and body, were extremely weak – I couldn’t walk far or do too much at all without having a rest. I suffered from appalling cramps and pain for a long time (still do, actually) and because I had spent years toe walking I had to learn how to walk again as no part of my body, posture or balance was used to walking properly.

It was a very difficult time and I was told to expect a long and challenging recovery, with compromises and changes needing to be made. One of these, I was told, was that I wouldn’t be doing anything too strenuous for a while and definitely wouldn’t be doing anything ‘dangerous’ or potentially damaging.

So, of course, I took up martial arts the moment that I had the stamina, and balance, to do so.

Thankfully my instructor – while being an ex army guy, from the Midlands of England, and a bit of a hard man – was also someone who never expected anyone to do anything more than they were capable of doing. That isn’t to say that he never pushed people – or me – to their limits. Oh my God but he did that, time after time, but he also realised that – at the start, at least – that I had physical limits. He worked with me, on those, for many, many, years. I will always complain about the hard times, about the nights I came home from class exhausted, or covered in bruises, or with clumps of hair missing from my head (wrapped around his fingers, normally) but I will always look back and be so – SO – grateful for the lessons he taught me.

Not just about martial arts but – as anyone that has really studied them will understand – about life in general as, to do the former well you have to let it envelop the latter.

I spent every possible moment, for about four years, training, studying and exercising. My whole life, at that time, was kung fu, my academic studies, and my social life – in that order. The fact that the majority of my friends were in the kung fu class wasn’t an accident either. It was, you see, my life.

It was also the thing that taught me the one lesson that is a blessing and a curse; the way that I have to live my life, thanks to the rare disease.

I have to work twice as hard to be half as good as everyone else.

That used to really, really annoy me. Anything that requires anything remotely physical can be challenging for me – not impossible, not beyond achieving, just difficult. I look at other people – now and back then – and see how easy things are for them – things that they take for granted. Things that I have to work at, to push past discomfort to do, that will take something out of me and leave me weak, tired and sore the next day (or hour).

I used to train four or five days a week, every week, in kung fu just so that I could keep up with the people who were training one night (90 minutes) a week. Mentally I was better than them, I was picking things up faster than most of them, but physically I wasn’t half as good as them.

But I sure worked twice as hard.

I had to.

Nowadays that lesson – working twice as hard to be half as good – is still with me in everything that I do. The mental – and physical – dedication required to study martial arts, for example, over an extended period, has helped me with every aspect of my life. I never look at anything that I am required to do and think that I can’t do it – I simply accept that it will be harder.

And do it anyway.

Twice as hard to be half as good is how it started and, to be honest, how it still is sometimes. Rare diseases – limitations – physical differences – however don’t always mean that you aren’t as good as others; sure, you may not be as physical fit, or strong, but that isn’t the same as being as good as.

I started kung fu twenty three years ago, mostly because I was being stubborn and wanted to prove the doctors (and possibly my own fearful mind) wrong. I worked more than twice as hard to stay half as good as my peers for a while and then, guess what, something happened:

I was working twice as hard but becoming better and better – not stronger, or fitter – but better. Twenty three years ago I started kung fu and, now, I still teach classes twice a week and hold four black belts.

Everything that came before led to everything that I do, and am, now. Just because I have a rare disease or two doesn’t mean that every part of my life is predicated by, or affected by, it. Just because I have to work twice as hard doesn’t mean that it is difficult, or not enjoyable, all of the time.

I could be dead; I could be in a wheelchair; I could be so much worse than I actually am but I am none of those things.

I am simply me; and that is because that is what I have fought to be.

I won’t ever stop doing that.

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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

On Angels’ Wings – a Rare Disease Day post

Rare Disease Day 2012The wings of angels are often found on the backs of the least likely people.” ~Eric Honeycutt

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I’ve touched on this before but I am finding it honestly amazing how many people – from all aspects of live, and from all corners of the World – are finding my blog and getting in touch with me about it.  Quite often I find out that these people are doing their own thing to try to raise awareness of, and help, rare diseases and Rare Disease Day.

Sometimes those very same angels have not only been doing it waaaay longer than me but also do it by writing about professionally.

This is one of those people.

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The Neurology of Angels: Every day a choice must be made between saving one child and treating thousands.

I have worked in industry and government and research, and there are two important things I’ve learned about health careKrista Tibbs systems. The first is that there is no evil mastermind; there are merely humans making hard decisions with the stories they have heard. The second is what Rare Disease Day supporters already know — that stories are built by the people with the loudest voices. So I wrote The Neurology of Angels to give rare diseases another voice in the dialogue.

I appreciate that Jay offered to share my story, and I wanted to take the opportunity to highlight something many people don’t understand about the uniqueness of rare diseases: that is, how the complexity and elusiveness of research and the long, costly process of developing a treatment can shape a person and her family as much as the disease itself. This experience is illustrated in the book when a clinical study becomes available and Sera’s response is not what her mother and her best friend expected. Excerpts are included below.

Thank you for supporting Rare Disease Day!

- Krista Tibbs (author – The Neurology of Angels)

Excerpts from The Neurology of Angels

Elizabeth told Sera, “There’s a doctor in Boston working with a company, and they’re looking for people with VWM to try a new treatment.” Sera didn’t say anything. “This is your decision. I’m not going to talk you into anything.”
Sera looked away, as if ashamed. “I want to do it, but I’m afraid.”

Elizabeth was confused. Sera had never been afraid of dying. What had changed, and where had she been while it happened? “Sweetie, you won’t be the first person to take the drug. A lot of people use something like it already to prevent strokes.”

“That’s not what scares me. What’s the worst that could happen; I’d get a terminal illness?” Sera smiled weakly and turned her eyes back to her mother. “I’m afraid that it’ll work.”

Elizabeth was stunned, at Sera’s words and at her own reaction. She felt a white flash of anger, hotter than she’d felt when her husband was taken from her, hotter than when Sera’s symptoms manifested despite Elizabeth’s belief in miracles. She’d been plenty angry at God in her life, but she wasn’t prepared for this fury toward her own daughter. She wanted to yell: What is wrong with you? Don’t you love me?

Tears formed in Sera’s eyes as she watched her mother’s speechless response. Elizabeth’s anger drowned under a swell of love and understanding. She hugged Sera tightly. “Fear of the future is the plight of us mere mortals.”

Lexi didn’t understand, either. Sera tried to explain. “When every day is a bonus, you notice each little bit of it. When I wake up and can feel my toes all warm in the blanket and wiggle them just by thinking about it, I know it’s going to be a good day. I’m happy just because I can zip my jeans, and tie my shoes, and paint my fingernails, and brush my teeth. Not just that I can squeeze the toothpaste and hold the toothbrush, but that I can feel the weird way the air gets cold afterwards…I want to fill every day with experiences. I want to dance or sing or play music or smile or twirl or just stretch. Because tomorrow I might not be able to tell my brain to do any of that…So I guess I’m afraid if I get better, I won’t notice any more how good it feels to stretch. You know?”

Lexi nodded slowly. Sera had spent her whole life as a sprinter, and now she might have to run a marathon.

Later, Sera told Lexi, “When I heard the drug was called Lexi-VM, I had to do it. Everything happens for a reason.”

“Okay,” Lexi said. “But don’t blame it on me if it works and you have to go to college and actually study for a change.” They laughed, sharing a future for the first time.

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The Neurology of Angels
Friction Publishing
Publ. Date: 2008
ISBN: 978-0-9818803-0-3 15ozs.

Amazon (US)

Amazon (UK)

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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

An Open Letter – a Rare Disease Day post

Rare Disease Day 2012“The price of greatness is responsibility.” ~Winston Churchill

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Below is a copy of a letter I sent to Peter Robinson, the First Minister for Northern Ireland.  In it I hope that I simply reminded him of his responisbility as a political leader.

… and, in case it doesn’t work on him, I also sent it to Martin McGuinness – the Deputy First Minister, every MLA for Newry & Armagh, the Mayor of Armagh City, the Deputy Mayor of Armagh City and each and every local Councillor for my area.

Maybe one of them will realise, to use another quote other than Churchill’s, that with great power comes great responsibility. If it is good enough for Spider-Man then it should be good enough for the men and woman who have the power to change our lives for the better … and rather than bickering about party politics, or which religion is better in a country so small, they can actually DO something!

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Peter Robinson

First Minister

The Northern Ireland Executive

Parliament Buildings






23 February 2012


Dear Peter,

Rare Disease Day 2012, the launch of the Northern Ireland Rare Disease Partnership, and the UK rare disease plan

I am writing to you as my First Minister in advance of international Rare Disease Day 2012, which this year takes place on the 29th of February. On

that day a new organisation, the Northern Ireland Rare Disease Partnership, which champions the interests of patients with rare diseases will be formally launched. In addition, the Patient and Client Council will be publishing a report on experiences of obtaining a diagnosis of a rare disease in Northern Ireland will be launched.

I understand that you have been invited to an event at the Pavilion on Stormont Estate at 11:30am to 2.00 pm and I urge you to attend this event (see bottom of the letter for further details).

I am someone who lives with, though tries not to suffer from, a couple of rare diseases – namely congenital myasthenic syndrome and congenital muscular myopathy – so personally understand just how all consuming such diseases can be in someone’s life.  Rare Disease Day, simply by raising awareness of the fact that there ARE these debilitating illnesses out there, along with the Northern Ireland Rare Disease Partnership and the Patient and Client Council, will bring hope where previously there may have been none.

The Department of Health, Social Services and Public Safety has committed to working with the UK Government and the other devolved  administrations to develop a UK plan to facilitate research and to improve health service provision for people affected by rare diseases – some 100,000 people in Northern Ireland alone. The plan was originally due to be launched for public consultation before the end of 2011. It was then announced that the plan would be launched early in the New Year. I am concerned that further delay to the launch of the public consultation could hinder the momentum of the work that has been done so far, and result in further delay to the much needed plan to improve the lives of people living with rare diseases in Northern Ireland.

The theme for Rare Disease Day 2012 is “solidarity” and the slogan “rare but strong together”. This reflects the reality that even though there are

over 6,000 different rare diseases, these will affect 1 in 17 people in Northern Ireland at some point in their lives; and those affected face common problems in getting the care, support and treatment they need. A report, which the Patient and Client Council will be launching on Rare Disease Day, highlights some of these issues in Northern Ireland:

·        29% of patients wait between 1 and 5 years for a correct diagnosis and over 20% wait over 5 years;

·        34% of patients are misdiagnosed – 20% of which received inappropriate treatment as a result;

·        Patients have to attend multiple appointments with different health professionals to obtain a diagnosis and it is frequently a battle to do


·        57% of people caring for a person with a rare disease do so for more than 20 hours a day;

·        Over 40% of patients described their experience of the health and social care service in Northern Ireland as “poor” or “very poor”, and nearly a quarter described it as “average”. Only a third of patients described their experience as “very good” or “excellent”;

·        Patients also reported feeling ignored by doctors, and that there is a lack of information and support for rare disease patients.

An effective UK  plan for rare diseases, fully implemented in Northern Ireland, would help address these issues.

I request that you please write to the Minister for Health, Social Services and Public Safety to push for the launch of the public consultation on a UK rare disease plan without further delay. I hope that you will also attend the event at the Pavillion on Rare Disease Day.

Looking ahead, I hope I can also count on your support to ensure the effective implementation of the plan in practice to make a real difference to the lives of people living with rare diseases in Northern Ireland.

I look forward to your response.

Yours sincerely,

Jay Faulkner



Please note:

For more information on the launch of the Northern Ireland Rare Disease Partnership and the Patient and Client Council report, please contact

Sarah McCandless at the Patient and Client Council: 028 9032 1230.


If you require any further information about the Northern Ireland Rare Disease Partnership, please contact the Chair, Christine Collins: 07843256442.


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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


The Pen – a Rare Disease Day post

Rare Disease Day 2012

Rare Disease Day 2012

“Beneath the rule of men entirely great, The pen is mightier than the sword.” ~Edward George Bulwer-Lytton (1803-1873)

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I was wondering what else i could be doing to help raise awareness of Rare Disease Day 2012.

I mean I know that I am telling people … pretty much for the first time ever … about my own experiences of having a rare disease (or two); I’m doing this blog, and letting people know about it on Twitter and Facebook; I’ve written a piece that will be used as part of my work’s Health and Wellbeing section, being sent out to all staff on Wednesday; and I’m attending the launch of the Northern Ireland Rare Disease Partnership, and the Patient and Client Council report outlining the findings of a survey conducted into the experiences of obtaining a diagnosis of a rare disease in Northern Ireland being held at Stormont on the 29th itself.

But I was wondering what else I could do?

Then it hit me.  I was sitting in front of my computer, drafting a post on this blog, trying to figure out what I could do … I could use the technolofy that was – literally – at my fingertips.

So I did.

I just emailed a tonne of influential people.  This includes the First Minister and Deputy First Minister of Northern Ireland.  It includes the MLAs for my constituency. It includes the Mayor, Deputy Mayor and councillors of my local council.  It includes Stephen Fry.

… that last one is purely because it is Stephen Fry, of course!

Now, I am not sure if any of those worthy people will even read my email, let alone actually DO anything thereafter but if they do read it, and it sparks even the slightest interest, they may decide to do something and that, my friends, may just make a difference.
And that is surely worth a while of my 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!

@rarediseaseday #raredisease

Inexplicable – a Rare Disease Day post.

Rare Disease Day 2012

“Could a greater miracle take place than for us to look through each other’s eyes for an instant?” ~Henry David Thoreau

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I’m going to bring you another guest post, today – one that, to be honest, has left me feeling rather upset but that is to be expected … when you read the words, and see the photo, you will be affected too -  and it is from someone that you’ve already met; Mercedes is a wonderful person – ask anyone that has any dealings with her and you’ll get told that same thing – but, unfortunately, her family have had more than their share of misfortune.

However they – and she – don’t let that define them but, rather, to simply shape them.  I have nothing but the humblest of respect and admiration for them.

These are her words:

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The Cyclops had alobar holoprosencephaly.  So, incidentally, did Cy, the Cyclops Kitten.  So did the famous Cyclops shark.

So did my daughters.

I was (happily) carrying triplets when I learned about this disease.   Holoprosencephaly is fairly common.  It means that the forebrain of the embryo doesn’t divide as it should.  The result is a single lobed brain structure that causes some developmental issues.  Some aren’t very severe at all.  The brain may be absolutely normal, close to.  There may be cleft lips, or small facial deformities.  Things you can live with.  Things you can manage.Seija and Luke's hands

Alobar Holoprosencephaly, though, is a whole different ball game.

In this case, the brain doesn’t divide into two halves at all, but stays together as one whole.  Since there is only one section of the brain, there is only one optic nerve.  With only one optic nerve, there is only one eye.

You might be wondering if my twins had only one eye.  The answer is yes.  One passed away too early to tell.  Her identical twin sister, however, was born and lived for five hours.  She was inexplicably lovely.  It’s funny how a face with such imperfections could be so perfect.

The third triplet was in her own separate sac.  This means that she wasn’t identical to the other two.  She’s healthy, she’s happy, and protected from the anomalies that took her sisters.

We’ve had our share of rare diseases in our family.

I’m hoping that there aren’t any more.

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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:



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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

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

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