Disability unseen…

Things become complicated when talking about the source of my depression…  Apart from the Bipolar and the usual day to day naturaly occurring depression, there is almost certainly a third…

Appologies for the length of the post, I hope someone is bored enough to read the whole thing ;)  I just wanted to post it in case I had to explain things again at some point…

I have a fairly rare connective tissue disorder called Marfan’s Syndrome.  About one in every 5000 people are affected.  The condition is extremely hard to diagnose and I was only diagnosed by the age of 28.  As a baby, I refused to walk and as a kid, I was in constant pain.  Doctors had all kinds of theories and explanations, ranging from incorrect sugar levels to me just being plain naughty.

The easy way to explain it, is that the building blocks/blueprint of my body has a mistake in it and that everything that is “stretchy” or acts as a connection between tissue, is either too stretchy or not stretchy enough.  It’s like underpants that’s either too small or all stretched out.  I don’t like to be called “Disabled” but my family insists on it.  People don’t notice it either…I look “different” but that’s about the only thing that would give any hint to it, the rest is hidden under the surface.

The easiest way to know you are looking at someone that has this condition, is that they are very tall and very scrawny with really thin, spindly limbs and fingers.  In fact, at 6’4″ and a mere 70kg’s I’ve been described as the “Grim reaper” by my friends, especially with my skeletally thin, long looking fingers.  And no, I don’t have a eating disorder either…  Even though I have a very poor appetite, Marfan’s patients in general has a hard time picking up weight…something that doctors still don’t understand, or just doesn’t know how to explain.

The word “Syndrome” means a collection of things…and that is exactly what this condition is.  The faulty gene (known as FBN-1), affects so many of the bodies structure that it creates a whole collection of problems and not just one.

Heart –

Your arteries, aorta and heart valves are all made up of connective tissue.  A common condition that up to 40% of the world’s population suffers from, called Mitral Valve prolapse (Or bicuspid valve), is one of the major diagnostic criterea for Marfan’s.  My heart valve is too loose (floppy) and as a result, after it closes, it flops open again allowing blood to flow in the opposite direction.  This puts strain on the aorta, which in the general population is not a problem but for a MFS patient can prove deadly.  Due to the weakend nature of the aorta it can balloon, like a hose-pipe that gets pinched, and eventually rupture.  This is a major medical emergency and you literally have thirty minutes to receive medical attention or you die.  This is the biggest cause of death in MFS patients and in the past, you were lucky to survive past 32-35.  Even though this statistic has substantially improved, it remains a serious concern and I have to see a cardiologist every six months.  Even in that period the aorta can still unexpectedly rupture due to too much stress on it.

They usually only replace the heart-valve if the aorta is enlarged past a certain point.  Surgery in Marfan’s patients are fairly risky because one, they are susceptable to infection of the heart, two, due to the weak nature of the connective tissue, it is common for suitures to tear out and if they hold, the site of the surgery is substantially weaker.  Artificial heart valves also has to be replaced on a five yearly basis and the trauma that the heart has to go through makes it risky.  At least nowadays they can operate without cracking open your chest, which as you can imagine, is yet another risk factor in a MFS patient.  Because of all of this, I have to take Beta-Blockers for the rest of my life.  Beta blockers basically helps to keep your blood-pressure down.  Some work on the brain chemicals but the ones I take work directly on the heart-muscle making it substantially safer and reliable.

The MVP on it’s own, is enough to halve the amount of energy and endurance that I have affecting my ability to focus and concentrate.  Add to that the Beta blocker pushing down my BP and you end up feeling lethargic and tired most of the time…finding your self napping like a old man in the middle of the day.  I could never as a child compete in athletics or keep up with friends when they were running around…knowing why would have made my childhood substantially more bearable and if I had known about this condition before I became a software developer, I would have thought twice…  It’s one of the majore causes for the abrupt ending to my career.  It is one of the most stressfull professions you can choose and stress, means strain on the heart/aorta.

Skeletally –

Your joints are connected with your muscles with tendons/ligaments and these are all made up of connective tissue.  What this means is frequent inflammation as the joints is too loose and rubs against each other in unnatural ways due to them moving out of their natural position (hypermobility).  Those in the know will recognise that that means my Alpha-1 Anti-Trypsene enzyme levels is almost allways sky-high.  The enzyme is more commonly associated with CF (Cystic-Fibrosis) in which case the patient has a defeciency and not elevated levels.  My joints are almost allways in pain, especially when bad weather is coming, and I fairly easily get RSI and have Osteo-Arthritis in some of my major joints.  Another affect is that I have to be carefull of dislocating any of my joints.  My knees especially has been problematic because due to the condition, the location of my knee-caps are off, sitting too high up.  I have dislocated my knees so many times that I have lost count.  I have “fallen arches”, meaning that the structure of the feet that forms the arch, is too weak and collapses and I can twist my joints into all manner of silly positions.  No, this doesn’t make me a contortionist as they are double jointed…with me, it is more a case of the joint being able to move outside of it’s normal position due to the ligaments/tendons being able to stretch further than what they should.

As a child, I could never keep up with other kids and never played any sport, this was a blessing in disguise however, as the chest in Marfan’s patients are not very strong and playing contact sport is a death-sentence waiting to happen.  One hard impact and my chest would basically cave in on it self and damage the heart/weak aorta.  This has been known to be the second biggest killer in undiagnosed cases.

I used to enjoy playing piano…I have a knack for playing from hearing and funny enough, was never able to learn to play and read sheet music at the same time.  I even dabbled in recording my own songs.  Over the years though, it became harder and harder and not only the piano playing but my job as well.  My profession required a lot of typing and after a while, my fingers and wrists could not take the strain any more.  I wear wrist braces on and off because wearing them permanently brings in a whole barrel of problems all of it’s own (Muscle Wasting).  Standing, walking, driving or just sitting for long periods of time becomes extremely painfull all over.  This is where I usually face the biggest problem with having a “Invisible” disability as people don’t realised I am a legitemate disability-parking user.

Lungs –

MFS patients has a much higher risk of contracting emphesema…and yes, I smoke.  You can call it passive suicide actually…as deep down it is a contributing factor why I haven’t quit yet.  The other risk that faces MFS patients is what is called “Spontanious Lung Collapse” or “Pneumothoraxis”.  Usually, lung collapse occurs due to trauma or medical conditions.  With MFS patients however, this can occur without warning and for no apparent reason.  The muscles and tissue acting on the lungs and keeping it inflated just basically collapses.  Most of the time, there is no way to determine why it happened and scarring is not allways present so there are cases where the doctors aren’t even aware that the medical emergency was due to a collapse.  A few years ago, while in surgery for a routine kidney-stone removal, I suffered a spontanious collapse and ended up in ICU for a week.  Once again, the impact on my childhood was significant as for obvious reasons, I easily get out of breath and still do (yes, yes, lol…I know the ciggies contributes now).

Sight –

All MFS patients suffer from sight impairment, mostly nearsightedness and astigmatism.  The astigmatism, which refer to the cornia being misshapen/football shaped, basically means I won’t wear contacts, unless I win the lotto…it’s a fair bit more expensive for special lenses.  The biggest danger when it comes to the eyes of a MFS patient, is dislocation of the cornia which more often than not results in blindness.  A sudden jolt and/or other trauma to the eye that would be fairly uneventfull in other people, could cause the lens of the eye to tear loose and cause irreprable damage to the eye.

Apart from that, I have a vision problem with an as of yet unknown origin.  I have what is called “Aftershadows” or “Palinopsia”.  If you look it up you will notice that the majority of cases comes from LSD … but I assure you, the only drugs I have ever taken is nicotine, caffeine or discribed by a doctor.  All the doctors can think of is that it might be a form of eppilepsy/migraine.  A good example of what I experience, is to stare at a object and then look away.  If you stare long enough, you get this kind of “ghostly” image of the object you were looking at.  This is normal and has something to do with the saturation of the cones in your eyes.  In my case, however, on days where it is really bad, it can happen in a tenth of the time that it takes for a normal eye.  This wreaks havoc when working on a computer screen, especially when I am stressed as that seems to be when it is at it’s worst.  Every time my eyes shift even minutely, an additional ghost image gets added to my vision and I eventually end up with a clutter of ghost images of my screen floating around making it allmost impossible to see (and pretty damn dangerous if it happens while I’m driving).

– Skin

Most MFS patients skin is fairly sensitive and elastic and most can stretch their skin 50% more than the norm.  Unexplainable stretch marks are common … thank God I’m not female (Sorry ladies, hehe)

– Dental

Crowding of teeth are common and I spent my childhood in agony with orthodontists trying to straighten my teeth.  The moment they would release them, they would just shift right back.  It was pointless torture for silly cosmetic reasons.  Don’t even get me started on my dental nightmares now…

– Brain

To date, there has been no evidence to suggest that MFS causes any form of mental retardation, in fact, most patients test above average, which just serves to piss one off even more…  You know you have a brilliant mind but all the shite just gets in the way…  It really sucks…

And…that’s about it, I think….might have forgotten of something along the way.  Any questions is welcome.

Thanks for reading