Medical update: Genetics and other beasts

DNA So today the geneticist was seen for both me and Mackenzie. Lots of medical history from a very insightful and clued up doctor; felt weird to actually be a couple of steps behind one for a change as it was 1/ obvious he had read the files and 2/ knew exactly what he was talking about.
He concurs with my neurologist that my issue is myasthenia and is going to press ahead with the genetic testing starting off with existing 26 panel test for the known genes, then opening it up to what else is available on the NHS already but also wants to do a wider gene test using research funding predominantly because the existing tests haven’t been clear so it may be something new …when found it will need a name 😉
He thinks that Mackenzie – due to presentation, medical history, comparison to Nathaniel, and some clinical testing already carried out – has inherited the gene fault/condition, albeit it at the moment that it is not as pronounced. Thankfully he isn’t going to recommend a muscle biopsy (which I’ve been arguing against) because as my previous two weren’t conclusive he doesn’t want to put Mackenzie through that. Once my tests are done he will repeat any that find anything for Mackenzie or arrange other DNA based genetic testing for him.
One thing that he was very supportive of, and in fact reiterated as the single most important thing, is to ensure that medical people know that not just Mackenzie but potentially Nathaniel too have inherited the scary part of the condition which is an ‘allergy’ to anesthetic; the first time I had it it cause my to ‘die’ for a little while and screwed up my nervous system and muscles for close to six months. He said it is better to treat them that they do have it, and be wrong, than vice versa.
So, a loooooong day, full of tiredness and emotion (I don’t like knowing, even though I already knew, that it’s my fault if there’s anything wrong with Mackenzie), but ultimately a positive day as it is another step forward.

Mackenzie: Undiagnosed Children’s Day 2015 – Friday 24th April 2015

undiagnosedUndiagnosed Children’s Day is a nationwide event to increase awareness of undiagnosed genetic conditions and raise funds to support SWAN UK (Syndromes Without A Name).

When Mackenzie was born, eight years ago, he was a pretty poorly little thing.  For 24 hours he wouldn’t feed, didn’t really move, and hardly made a noise.  We knew that there was something not quite right but, for that first day, we weren’t really listened to. One of the pediatric registrars, upon seeing him, was pretty concerned and had him moved to neo-natal (the unit for intensive, high dependency or special care) where it was discovered that he had double primary pneumothoraces – basically there was air around his pleural space that caused an uncoupling of both lungs from the chest wall, in layman’s terms he had double collapsed lungs …or, to put it bluntly, he wasn’t able to breathe properly.  As any parent in that situation will understand there is a moment of complete helplessness when your child is taken away from you and placed in an incubator, with tubes seemingly everywhere, and machines beeping every second of the day and night. We knew, obviously, it was the best place for him – the only place for him – but it still felt ‘wrong’; thankfully it was very right as with the amazing work of all the staff in the neo-natal unit Mackenzie was soon breathing on his own and we got to take him home about a week later.  We were told, then, that they didn’t know what had caused the pneumothoraces.

This wouldn’t be the last time that we heard the words ‘we don’t know’.

As a baby and a toddler he reached his milestones pretty well; he was always taller than average – up in the 75th percentile – but also very much lower than average in weight – down under the 25th percentile; he crawled easily but when it came to walking he could do it but he preferred to still crawl or ‘knee walk’ (shuffling around on his knees, rather than his feet). He had – and still has – a pronounced ‘dent’ in his chest which, at the start, worried the health visitor, but as it didn’t seem to cause him any difficulties (and still doesn’t) she put it down to just something ‘unusual’.

This wouldn’t be the last time that we heard the word ‘unusual’.

He was also very flexible, especially in his legs, and when we were changing his nappy, or getting him dressed, his legs could flop pretty much all the way open, but there was a pronounced ‘clicking’ noise.  Due to this he was referred to our specialist orthopedic hospital where they examined him; they said that he had hyper-mobile hips but weren’t sure why.

When he was three he got a nasty chest infection, which led to pneumonia and a pretty scary time of respiratory distress and hospitalization. We were told that it was ‘unusual’ for a seemingly healthy boy to go from basically a cold to pneumonia, though not unheard of.

During this time, and afterwards, Mackenzie was waking up crying in his sleep. Before he could talk he wasn’t able to articulatemackenziechair why but was always curled up and holding his legs. As he got older he was able to articulate the fact that his legs hurt, especially from the knees down. More visits to more doctors followed – some of them putting it down to growing pains, some of them admitting they didn’t know why but, thankfully, none of them dismissing anything.

I suppose I should say, at this point, that I had an ‘interesting’ childhood, in terms of medical mysteries. I always had issues with my growth, strength, stamina, and breathing.  Lots of medical opinions were mooted for me – some stupid, some just wrong – until finally, when I was 16, it was discovered that I had spina bifida occulta.  About 18 months after that it was discovered (when I died on the operating table and spent six months in hospital recovering from a catastrophic ‘failure’ of my nervous and musculature, resulting in paraparesis of my legs) that I had an ‘unknown’ muscle disease which, at that time they assumed it was simply congenital myopathy – later on, much later, a neurologist would piece things together and confirm that it was an unknown form of congenital myasthenic syndrome (still unknown but little steps closer to the truth).

So, due to my own personal neuromuscular genetic peculiarities the doctors looking into Mackenzie were open to delving a little deeper. There’s been blood tests a plenty, presentation testing, CT scans, MRIs, electromyography and nerve stimulation testing. He has a named GP, a neurologist, a physiotherapist, a gastroenterologist, and an occupational therapist.

All of these guys together have come up with a list of symptoms that Mackenzie has: hypermobility, low muscle tone, fatigue, hypertonia, reduced gastric motility, he doesn’t really know when he needs to go for a poo and a few other things.  What they didn’t come up with is a diagnosis from those symptoms; they couldn’t give a name to what these things meant. Mackenzie is a SWAN.

Now Mackenzie is a very bright (reading age of about 13-15), very bubbly, very beautiful, and very wonderful little boy. He swims, he plays hockey, he plays (I’m his daddy, I can play loose with the definition of the word play a little here 🙂 ) a brass instrument, and he studies kung fu.  He rides his bike, he kicks a ball, he plays his Xbox, he runs, he jumps, he climbs, and he has a group of very good friends.  Sometimes he falls over, sometimes his legs turn to jelly and he can’t walk, sometimes he is so tired that he can’t move, sometimes we have to carry him around, sometimes he has to use his wheelchair to get around, sometimes he is in pain, and sometimes he has toilet accidents. ALL of the time, though, he doesn’t let it phase him and ALL of the time he is a normal little boy.  He may get a diagnosis at some time – he may be a myasthenic like me – or he may be a SWAN all of his life.

Either way ‘we don’t know’ or ‘unusual’  doesn’t make a blind bit of difference because, ultimately, he is Mackenzie and that is the only definition that we – or he – really needs.

The so called ‘three-person baby’ vote.

Mitochondrial disease can be a devastating condition which leads to brain damage, muscle wasting, heart failure and blindness. Science has figured out a way to ‘cure’ this by using a technique which replaces the faulty genes in the biological mother which genes from a donor …despite what the media are calling it it is NOT a three-person baby! If someone has a cornea transplant, or a donated organ, does this make them suddenly two disparate people? Of course not.

All this technique does, prior to IVF, is fix a faulty gene with a working one. The resulting child is still biologically the child of the parents, not the gene donor.

MPs are voting whether or not to allow this procedure to happen but there is a lot of misinformation and scaremongering about it. MPs have been given a free vote, as it is an issue of ‘conscience’, and is being lumped in with other such things like abortion, euthanasia, same-sex marriage, etc. However this is TOTALLY about a medical procedure that will not only save lives but potentially wipe out mitochondrial disease as the gene change will be passed down through the generations.

The Catholic and Anglican Churches in England said the idea was not safe or ethical, not least because it involved the destruction of embryos. This opinion is based on religious grounds, rather then scientific ones.

It is backed by parents of children born with mitochondrial disease, it is backed by doctors who deal with mitochondrial disease, and it is backed by scientific peer reviews.

If the MPs don’t vote this through then they are condemning children to suffer, and die, needlessly.

http://www.bbc.co.uk/news/health-31069173

Myasthenic Kids Children’s Weekend 2014

A4_Flyer2014-web
Tomorrow night I am flying over to England for the weekend to do something pretty cool: I am going to be at the Myasthenic Kids (http://www.myasthenickids.org/) weekend event to be a guest ‘Adult with Myasthenia Speaker’ and give a talk to some of the older kids, and parents, on living with a genetic muscular condition and to help them imagine and anticipate what challenges, and hopes they can have for the future.

This is a seriously daunting (if not downright terrifying) prospect but I’ve been told that my words might genuinely inspire others so, with that in mind, it is worth a shot.

Wish me luck.

Tallyho!!!

An Open Letter: Alobar Holoprosencephaly by Mercedes M. Yardley

The below post was written by a good friend of mine, author Mercedes M. Yardley, who has been through her fair share (and more) of trials and tribulations in her life but always seems to stay strong.  Her she shows that strength, and compassion, by helping a stranger with something that she herself is, unfortunately, all too familiar with.

 

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Dear Beautiful Stranger,

You found my blog by searching for the phrase “should i hold my holoprosencephaly baby after birth”. My heart goes out to you, love. I’m pretty sure that your heart is breaking right now.

I know you’ve been researching the diagnosis like crazy. I’m also pretty sure that you were as terrified of the pictures as I was. I couldn’t understand this crazy disease and what it meant for my child. I knew it was a death sentence. I knew, when I looked at the unusual faces of these children with alobar holoprosencephaly that they couldn’t survive. That their bodies wouldn’t be strong enough. I knew it was a gift to let them slip away, but knowing that didn’t make it any easier.

You’re going through your pregnancy knowing that you’ll lose your child. You’re suffering through the sickness, the aches, the nightmares, and the emotional pain without the promise of bringing home a baby at the end. You’ll deliver a baby in order for it to die. And when the pain of pregnancy is at its worst, you’ll think to yourself, “I can’t wait until this baby is born!” And then you’ll immediately crumple in shame, because by wishing for its birth you are, in a sense, wishing for its death.

It isn’t that way, love. It isn’t that way at all. Be kinder to yourself, my friend.

I know what it’s like to rest your hand on your tummy and to feel your baby kicking while looking at caskets online. I know how it feels to be dashing tears out of your eyes as you search for the perfect little white outfit with darling lace. You wanted it to be a christening outfit or a party outfit or a blessing outfit, but instead it will be a burial outfit. I know that you want to plan birthday parties instead of funerals.

You might feel guilty. Did you do this, somehow? Your medication or you exercised too much or you were terrible in a former life? Are you being punished? Can your marriage take this?

Do you have other children? Will they understand? How do you explain death to a three-year old? How do you explain to the lady in the grocery store who wonders where your tummy has gone when you never come in with the baby?

Will you love that child? Will you look at his disabilities with horror? If he has two eyes in one eye socket, which is so frightening in the pictures you find online, will you be able to handle that? Will you be scared of your own baby?

No, you won’t. You might think so, but you won’t. We knew ahead of time what my girl would look like, and that helped prepare us. Tiny club feet, a cleft palate. Yes, the one eye socket with two eyes inside. The proboscis over the eye. No nose. I’m grateful that we were indeed prepared, because it allowed me to see the other things.

Tiny fingernails. Tiny, tiny little toes. Eyelashes. The most beautiful mouth that took sweet, sweet breaths until her time was up.

She was my baby. I felt her move and kick. I stayed awake at night, worrying about her. Worried about us and our future.

She was beautiful. Yes, her face was a puzzle that was put together incorrectly, but symmetry doesn’t make beauty. She was a living doll. Her soul felt too big for her little three-pound body. Holding her genuinely did feel like heaven, and I don’t care how cliché that is.

Yes, my friend. Yes, my precious, precious stranger. You should hold your holoprosencephaly baby after birth. Hold him because he is your baby, and you are his mother or father. It will be tender and sweet and sad, but I think you’ll be surprised at the joy. That’s your baby. That’s your little one. You’ll love him or her always. Show him while you can.

All of my love to you.

-M

 

Originally posted here: http://abrokenlaptop.com/2014/06/02/an-open-letter-alobar-holoprosencephaly/

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

– – – – –

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.

– – – – –

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

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

– – – – –

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!

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