Musings

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:

- – - – -

“Rare Disease Day -29^th 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  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/

- – – – -

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

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

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

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

Butterflies and Battleaxes ~Mercedes M. Yardley

 

 

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

- – – – -

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

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

 

 

- – – – -

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

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

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

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

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

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

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

These are her words:

Let It Fall

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

#

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

- – – – -

Mercedes M. Yardley

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

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

 

- – – – -

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

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

 

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

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

I died.

The end.

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

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

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

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

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

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

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

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

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

Oh, yes, attention was great.

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

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

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

Then I died.

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

I died.

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

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

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

… the first time.

- – – – -

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

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

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

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

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

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

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

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

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

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

Nothing had changed.

… and, yet, everything had.

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

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

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

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

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

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

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

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

- – - – -

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

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

“All truth passes through three stages. First, it is ridiculed. Second, it is violently opposed. Third, it is accepted as being self-evident.” ~Arthur Schopenhauer

I was recently told that I have a problem, a rather serious problem, and that can be summed up in one word: acceptance.

In order to try to ‘recover’ and to move onwards and upwards, I’ve realised that I have to accept a truth that I have been either opposed to admitting I have or making jokes about as if it is nothing, or has no affects.

So, to that end, I am going to borrow a very well-known phrase:

Hi there, my name is Jay and I’m a sufferer of a rare disease.

… oh, sorry, you thought that I was coming out as an alcoholic?  Never touched the stuff, sorry J

Joking aside my neurologist, among others, recently told me that while I deal really well with the physical effects of my medical condition I don’t deal well with (if at all) the emotional or mental effects because I either refuse to consider that there are any, make light of them, or compare them to other, worse affected, people as if to say ‘don’t waste time on me, I’m fine, look after them!’.

However, as pointed out by the professionals, and to quote my neurologist’s recent words, I have ‘a complex and complicated medical condition’ and just because it isn’t visible, or chronically, permanently affecting me, doesn’t mean that it isn’t there, or having an effect.

So, what is this condition?

Simply out it is a two-fold, genetic disease – congenital muscular myopathy and congenital myasthenia syndrome. In terms of these being ‘rare’ diseases it is hard to know as not much is known about them (no pun intended) but some figures state prevalence for congenital muscular myopathy is rare but unknown, extrapolated at 1 in 500,000and congenital myasthenia syndrome having a prevalence of approximately 1 in 2 million.

This basically means that I suffer from the following symptoms/issues:

• General muscle weakness / reduced muscle strength
• Fatigability (progressive weakness with exertion, somewhat relieved by rest)
• Aches / pains / cramps
• Life-threatening reaction to general anaesthesia

Apart from the above the biggest issue that affects me is around my respiratory muscles; my intercostal muscles are weaker and I have prominent diaphragmatic weakness which, when taken together, leads to ‘restricted lung function’; simply put my breathing is shallower and I can’t take in, or push out, air to ‘average’ volume/capacity.

This doesn’t mean that I am any more prone to picking up any colds, flu or infections than anyone else just that, if I do contract them, it can affect me harder and faster, and be more difficult to manage or recover from.  In cases this may require pre-emptive medical intervention (such as hospital treatment) to ensure that I don’t require emergency hospital treatment, or suffer from respiratory distress or even failure.  The combination of the weaker muscles, the fatigability and the restricted respiratory function my thresholds for exertion/activity are lower, and my recovery time longer, which means that I have to be aware of my limits and plan accordingly.

Now, on a good day you would look at me and think what a devilishly handsome, well groomed with amazing hair, and healthy specimen that is … you would be right, of course (and have great taste too) though on closer inspection you may notice that I am a bit pale and while not drastically overweight could lose a pound or two to be at optimum fitness.

If you looked a bit closer you ‘might’ notice that I have ptosis of one eye – a droop in the eyelid – and depending on the day it could be marked or slight.  You may also notice that I may not be walking as fast as you, or that I am breathing differently – maybe not quite as well or as easy.  You probably wouldn’t think too much of it.

If you were with me for a longer time, and walked a while, went up an incline, used stairs or simply ‘exerted’ ourselves you would wonder why I was lagging behind – why I was slowing down – why my breathing was ragged – why I was, perhaps, wincing a little and rubbing my legs in discomfort.  If you asked me to hold or lift something slightly heavy you might be surprised to see that I couldn’t do it or, if I could, how much it took out of me.  Obvious pain and/or cramps in my legs, feet or hands could be happening. You might see the signs of great exertion and tiredness after doing very little at all.

Very little for you, of course.

You see that is the problem.  What is little – ‘normal’ – for the majority of people is an effort for me.  What is easy – ‘normal’ – for the majority of people can be difficult for me.  What takes a short time – a ‘normal’ time – for the majority of people to get their strength and breath back is doubled, or tripled, for me.

However, you probably wouldn’t see it unless you were with me all the time, you knew what to look for, or I let you.

… and I rarely, if ever, let people see those signs of pain, discomfort, or weakness.

I prefer … preferred … to hide and mask it, to make jokes, to have secret, hidden coping mechanisms in place to avoid the activities that would expose my problem.  Even if I was experiencing symptoms I wouldn’t admit it – not even to those closet and dearest to me – the ones who knew I had a problem, who could and would help, but who weren’t allowed to because that would be accepting the problem.

My whole life, as far back as I can remember I had to work twice as hard to stay half as fit.  For a time it worked rather well, obviously, as I have multiple martial art black belts/sashes and still teach it.  Twice as much effort, for half the reward, though.

Recently – about four or five years ago – I reached a point where I was working harder and harder to stay less and less fit.  Then a period of consecutive illnesses – little ones, for the ‘normal’ person, like chest infections and tonsillitis – that wore down my immune system, my energy and muscle reserves, and my very ability to actually exercise to stay fit.  So the genetic issue itself finally caught up with me and, to be honest, overtook me.

Basically the coping mechanisms didn’t – couldn’t – work as much, if at all anymore.  It was obvious that I could walk as fast or as far, do as much as often, recover, etc … I was actually suffering from (rather than living with) my condition.

In September 2011 it came to a head with a minor upper respiratory tract infection … a small ‘bug’, a minor inconvenience, to you ‘normal’ folk.  In October 2011 I was rushed into hospital in respiratory distress and came very, very close to respiratory arrest.  I was kept in hospital for a week, on drugs, oxygen, medical intervention, physio and more simply to keep me breathing – at one stage I was told that they were basically going to put me in a mild coma and ventilate so that I didn’t have to breathe for myself until I got enough strength to do so.

It is now February 2012 and while much, MUCH, better I am not back to where I was before the infection.

So, there comes a time when you can’t lie to others, you can’t even lie to yourself, and basically have to admit and accept that there is an issue.  Doing so won’t make things better, they won’t give a magic bullet that cures all the defects, but it will mean that you don’t waste time and energy on deflecting the questions and concerns, and you won’t push away the hands that could and would help if they knew that you wanted or needed it.

I’m lucky, you see, because I’ve always had those hands there – whether I wanted them or not – I’ve got great, great family and simply the most amazing wife anyone could be lucky enough to have (not that anyone else can, she’s mine!) so if I wanted, needed or asked for nay help or support at all I’ve always had it.  I am – or was – just too stubborn to always accept that I needed, or deserved it.

Acceptance lets you finally take a breath and say ‘I have a problem’ – then actually and actively work on living with (rather than suffering from) the complications this brings.  It also lets you accept that things could be better but could be worse.  Acceptance also allows you to use your experience, and your story, to bring awareness to the fact that rare diseases exist and, hopefully make other people come to terms with their condition or that there is something that they can do to help others.

So, I will admit that I have a problem but, from now on, it isn’t one of acceptance!

 

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

 

29 February 2012 is Rare Disease Day … and also my birthday.

Something that I don’t normally make public but, considering the importance of the event, have decided to do now is let people know that I suffer from a rare, and sometimes debilitating, disease myself.  I’m ‘coming out of the closet’ (so to speak) about my own illness because hopefully, by doing so, it may help raise awareness of other people’s issues.

So, to help to raise awareness for patients, families and carers living affected by rare diseases worldwide I’m going to be posting (hopefully) interesting information until the end of February – I will keep a list and link of all related posts right here, for easy access (if you want to bookmark this one to find them all … kind of like the one ring, but without ll the angst).

I am also going to try to do more … maybe on the 29^th itself … so watch this space!

- – - – -

Blog posts:

Rare Disease Day 2012 – http://jayfaulkner.com/blog/archives/442

Truth and acceptance – Rare Disease Day post – http://jayfaulkner.com/blog/archives/451

The difference a day brings – Rare Disease Day post – http://jayfaulkner.com/blog/archives/456

In the beginning – a Rare Disease Day post - http://jayfaulkner.com/blog/archives/463

Let it fall – a Rare Disease Day Post – http://jayfaulkner.com/blog/archives/466

Butterflies and Battleaxes – a Rare Disease Day Post – http://jayfaulkner.com/blog/archives/483

Ataxia – a Rare Disease Day Post – http://jayfaulkner.com/blog/archives/487

- – - – -

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

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

 

This year’s Eagle Award nominations – the comic industry’s longest established awards – close very soon. I may make the shortlist if you vote for me in the following two categories:

Q10: Favourite Editor – Jay Faulkner
Q25: Favourite Comics-Related Book – ‘Powers – A Superhero Anthology’

I have to be honest and state it is the second category (Q25: Favourite Comics-Related Book) that I would be most stoked about

So, if you feel so inclined, follow this link – http://www.eagleawards.co.uk/ – and vote, vote, vote …. and thanks in advance!

In the next few months I intend to start drafting what will hopefully become a novel – however I have two ideas which are both actively competing for my attention, both of which I like and think could go the distance. So, I’ve decided to let other people make the decision about which one I commit to … those other people being you guys!

Option one has a working title of ‘Careful what you wish for’ and is a 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. I ‘think’ that it would be fair to call this a crime thriller the deviates into an urban/supernatural fantasy piece without losing the hard-edged/noir-esque feel to things.

Option two has a working title of ‘Redemption’ and starts of as an Old West, horse riding, gun slinging story that quickly turns into survival horror as our protagonist (let’s call him ‘Joe’ for now) rides into a horde of zombies about to chow down on a young girl tied to a cross in the middle of the country. I can’t go into much detail about this one but it will cover three VERY different time zones … one could call them past, present and future, I suppose … and will have elements of post-apocalyptic horror, Western sensibilities, Biblical connotations, and all out mayhem and action everywhere you look. Did I mention zombies? For the record this story will never be what you are expecting, I promise you that!

So, my lovlies – what say you?

Head over to my Facebook page (www.facebook.com/thejayfaulkner) – or reply here – and case your vote for:

Option 1 – Careful what you wish for

or

Option 2 – Redemption

I just wanted to let everyone know that the anthology I edited, ‘POWERS – A Superhero Anthology‘, is eligible for an Eagle Award!

For those of you that don’t know what the Eagles are, here is their blurb (http://www.eagleawards.co.uk):

“INTRODUCED in 1976, the Eagle Comic Awards are the comic industry’s longest established awards, acknowledged as the pre-eminent international accolades. The Eagles have been featured on the covers of leading US and UK titles across the last 30 years, unique in that they reflect the people’s choice and comprise of two distinct stages.”

The awards are for all aspects of comic books, and comic related entertainment – and as POWERS is an anthology of super heroic tales it was not only eligible but some kind soul put forth a nomination.

Now, this award is in two stages: the first is the nominations. Every title has to actually get votes, at this stage, to go through to the real ‘voting’ stage with the top five nominations in each category moving on. To be honest it is pretty cool just to even be eligible for nominations but it would be amazing to go through to the top five voting stage and be in with a chance of even winning!

… so, this is where you come in.

If you would like to take a few minutes of your time to help push POWERS a little higher all you need to do is go to the Eagle Awards site (http://www.eagleawards.co.uk) and fill in their survey – when you get to Q10: Favourite Editor it would be really nice if you put me (Jay Faulkner) as your choice, and when you get to Q25: Favourite Comics-Related Book please choose ‘Powers – A Superhero Anthology‘ – after that all you need to do is verify your email address by clicking a link which will be emailed to your from the Eagle Awards site.

Cy Dethan, the professional comic book writer who very kindly did the introduction for the anthology, is also up for a couple of awards so if you are filling out the survey anyway it would be extra nice of you if you took the time to help him out – his sections are: Q1: Favourite Newcomer Writer; Q3: Favourite Writer, Q14: Favourite British Comicbook: Colour (SLAUGHTERMAN’S CREED).

… and, if you decide that you would like to go one step further by asking your friends, family, work colleagues and even your doctor to do it too that would be amazing!

C’mon, lets get this anthology noticed again!

Link to nominations:- http://www.eagleawards.co.uk

Thanks!

POWERS is available at the following places: Amazon (US) ~ Amazon (UK) ~ Waterstones ~ Barnes & Noble