Marfan’s 101 – My Inheritance

February 8, 2012 2 comments

My Inheritance

Marfan’s is a group of conditions, caused by one single defect, which makes it very difficult to diagnose and also to explain in brief. So what I will do, is to give a overview of each area and each condition that arrises from the syndrome and then later on, go into depth on the conditions them selves. The next section might seem a bit technical but this is so I can keep it as brief as possible or this post will take eons to read 😉

Where it all goes wrong

Our bodies, consists of many different types of cells, from bones, muscles, blood-vessels and so forth. Each of these cell-types has a basic Blueprint, known as a Genome or Gene, that tells the body how to create these cells. In Marfan’s Syndrome, one of these Blueprints, has a mistake on it. This is generally called a “Mutation”.

The Blueprint that I am referring to, is called “Fibrilin” (FBN-1 in medical terms) and can be found in most major structures of our body. You can think of it as a kind of “Elastic” or “Glue” that ties things together. Let me try and elaborate. Your body consists out of a skeleton, muscles, skin and internal organs. All of these constituent parts, don’t just magically hang on to each other. They are all kept in place by cells/tissue, that make use of fibrilin as one of their ingredients.

There is various systems in your body that depends on the Blueprint, so I am going to break them up into pieces.

Heart (Cardio Vascular)

The main cause of death, in MFS patients, is due to the rupture of the main aorta. This usually occurs due to a defective Heart Valve, usually the mitral valve. The combination of a deformed heart valve, also known as “Mitral Valve Prolapse” or “MVP”, and the weak walls of the main aorta, both due to the defective gene, can result in a life threatening condition known as “Aortic-Dissection” whereby the main aorta leading to the heart literally tears. In the event of such a tear the patient has, at most, 30 min’s to receive medical attention. If the patient does not receive medical attention, they will die. Marfan’s patients are generally discouraged from activities that places more than 10kg of stress on the aorta and most suffer from fatigue due to the faulty heart valve and medication such as Beta Blockers, used to lower the blood pressure as a preventative measure. Do note however, that Mitral Valve Prolapse or MVP is not dangerous in persons that do not have MFS and is infact concidered quite common and benign in the normal population.

Lungs (Pulmonary)

Lung problems, is the second most dangerous side affect of the condition. Weakened tissue in the lung, can cause the lung to collapse suddenly and for no obvious reason. This is an extremely dangerous situation, especially if both lungs are affected and in severe cases can only be rectified by medical intervention. Apart from sudden lung collapse or “Spontanious Pneumothoraxis”, MFS patients are also highly suscepteable to other lung conditions, especially Emphysema. It is not uncommon for MFS patients to suffer from shortness of breath and there for having difficulty in running/walking long distance, performing stranious activities and becoming fatigued very easily. For obvious reasons, it is ill-advised for MFS patients to smoke.

Sight (Visual)

The loss of sight, is the third major concern for MFS patients. Due to weak bonds and the fragile nature of the retina, retinal-detachment, where the retina tears away from the eye, often occurs in MFS patients. Although not a life threatening condition, if the patient does not receive medical attention, the retina can shift in the eye and damage the internal structures, leading to blindness. Apart from retinal detachment, most if not all MFS patients suffer from difficulty with their sight. Deformation in the eye is common, as is the need for glasses. Most of the time, these deformations makes it impossible for MFS patients to wear contact lenses.

Skeletal

When you move one of your limbs, like your hand or foot or leg, your muscles are doing most of the work but most people don’t give much thought to just how the muscles and bones are connected. Bones and tissue, connect to each other through “Tendons”. Tendons, is sort of a stretchy, elastic like tissue (you know, that annoying rubbery stuff that sometimes gets in the way when you are enjoying a nice steak…). This tissue, binds to the muscle on the one end and to your skeleton on the other. Because Tendons, uses Fibrilin as one of their main ingredients, some annoying issues can arrise due to the flawed Gene. These issues includes hypermobility, which can lead to tendonitis, arthritis and dislocation of joints. The more severe problems, includes malformation of the chest (Pigeon Chest), deformation of the spine (Scoliosis) and a less than optimal protection of the internal organs, by the rib-cage. It is advised that MFS patients avoid contact sports as much as possible.

Inheritance

There is various ways through which you can inherit a Gene Mutation from your parents. With Marfan’s, you have a 50/50 percent chance of inheriting the faulty gene from your parents, even if they do not have the Syndrome it self. A lot of times, family members will have some traits but not sufficiently so to be classified as Marfanoid. Because of this, Marfan’s can literally skip generations and might never have presented it self before or done so in such a slight degree that it was never identified.

Categories: Marfan's Tags:

Marfans 101 – The Skinny

February 7, 2012 8 comments

The Skinny

As you might know by now, I suffer from a condition called Marfan’s Syndrome (MFS) and I thought it was time to introduce you to my second little friend in my Genetic screwball family.   Before I explain the deeper workings and reasons behind Marfan’s Syndrome (MFS), let me first give you a run down on the typical case of Marfan’s…

Typical Marfanoid Appearance

Most Marfan’s patient’s, has very prominent features. These features, on theyre own, is not unusual in the normal popilation but put them all together and it is enough reason to start suspecting the presence of the condition. The first thing that you would notice, is that the person seems taller than expected (And I say “taller than expected”, rather than “taller than average”, for a reason). For the most part, a person with MFS, is almost abnormally tall. I for one, stand 6’4″ tall (Six feet, four inches or abouts two meters). This however, does not mean that the condition is confined to tall people. The reason behind the “Tall stature” like appearance, is that the torso is out of balance with the legs and arms, making the person appear even taller. So in fact, even an average height person, can have MFS.

The next thing you might notice, is that the person has a very slender\skinny build. Now there has been accounts, including my self, of people with MFS being suspected of having eating disorders such as bolemia or anorexia due to our scrawny appearance. This is not true in any sense. Wether it is our tall stature or something to do with our metabolism, we just don’t gain weight, no matter how hard we try. And no, I wasn’t trying to make anyone jealous… It’s not as fun as you might imagine 😉

The tall/slender theme repeats it self through out, with most having long slender faces and most noteably, long fingers (and I am not referring to the fact that they steal…I really do have long slender fingers). The appearance of the fingers is actually called “Arachnodactilia” loosly translated as “Spiderlike Fingers”.  Arachnodactilia, however, is not allways limited to the fingers either and can even present it self in the toes.

Most all Marfan’s patients has to wear glasses, usually due to nearsightedness and astigmatism.  Some other factors that are a little less obvious, is that the person might have either a very prominent or a sunken chest and/or has a crooked/arched back.

Categories: Marfan's Tags:

Liebster Award – Trying to break my isolation

February 6, 2012 3 comments

I want to thank Disorderly Chickadee, for nominating me for a Liebster Blog award and at the same time, congratulate her on hers 😀

 

I’m not very good at receiving compliments… Just one of those little quirks of mine. “Be the least…do the most”, most probably the motto that does me the most harm too 😛 .

I don’t have a lot of “Followees” nor do I know many blogs out there, so I will have to consede to re-nominating (Heck, actors get’s more than one oscar award 😉 ).

So, with no further ado! Here is my re-nominees!

1. Bluesander from Stronghold:

You are a talented and inspirational poet, among other things. Never give up that brilliant talent of yours. You have a bright future ahead of you! And you have the honor of being my poetic muse 😛

2. Bipolar Muse:

Sharing your most heart breaking moments and still staying positive and enjoying your kids, that takes courage. Your kids are fortunate to have such a loving mother.

3. Luna Sunshine:

What can I say… The supportive comments, the initiative to start the Blog for Mental Health and your wealth of knowledge, you are one amazing lady and an inspiration to the whole Bipolar community!

In fact, Luna hit the nail right on the head with her comment on my post on Isolation.  I have been struggling the past couple of days, to break my solitude.  My mood has definately taking a downard turn, as has my body.  There’s no telling which begat which…the chicken or the egg…  Having a secondary condition, does tend to make things just that bit more confusing at times.

 

Categories: Awards, Liebster Tags:

Darkness within…

February 3, 2012 2 comments

Very unlike me, yet, I tend to get inspired…thanks Bluesander, among others… by things that I don’t usually do.  I sometimes feel like I am on the brink of being like the “Pretender”…an old t.v. show.  But with that said, I usually end up making a “bang” when I do it the first time…but after that, it ends up being a “dud”, so enjoy…while it lasts.

As the lights dimmed and the darkness crept in,

he stood in the eery silence, drinking it all in

Fingers from the dark, probing his mind

Like they were trying to find,

the last bit of sanity…the last strand of human-kind.

 

With his shadow, still fading, ever thin,

he could feel the restlessness, stirring within.

The beast that is his soul, darkened with sin,

Would not be illuminated, not even by the holy trin.

 

That deep, dark abyss…that unholy place,

That beastly abode, where it hides it’s face,

The place that he keeps secret, from the human-race,

Where he dreams to disappear, without a sound, without a trace…

Categories: Poetry Tags:

Isolation…what is it that draws me to it…

February 3, 2012 17 comments

 

Often, at night, when I am just lying in my bed, I keep getting these “feelings”/”thoughts” of wanting to lock my self in my room.  At times, I even imagine my self boarding up my door or welding my door shut as if though I wanted to keep the world out.  For how long?  I don’t know…more than likely forever.  I would plan out, step by step, what I would need and how I would do it and even try to imagine how effective it would be.  I would devise plans to stop people from being able to break open the door.  I don’t want to be saved…I just want to be left alone…but why…

 There was a time, when my meds was not working so great, that I wanted to just sleep…and nothing else.  It was different to fatigue in that I wanted to sleep and never wake up. 

<<< WARNING:  THE REMAINDER OF THIS POST MIGHT BE UPSETTING TO SOME READERS >>>  Read more…

Not the best of days…

January 31, 2012 Leave a comment

My morning started with a rude awakening, the banshee like scream of our house-maid. Without thinking, I was out of my bed and down the passage, my blood running cold through my veins and my mind racing through the contents of the house that could be used as a weapon. You have to understand that not long ago, we had a break in at our house…

It played out very similar. In the early hours of the morning, the burglars had pried open the security gate, forcefully pried open a 15 cm thick lock. Peering down the hallway, they motioned for our maid to stay quite with loaded guns. She panicked and fled down the passage, into my room, where I lay fast asleep. I woke with a freight as she slammed the door behind her and shrieked for me to hold the door shut while she phoned the cops. I was out of bed and at the door, just in time to slam it back on the would-be assailant. He pushed and slammed at the door and my mind raced, sifting through the copious amounts of useless information, trying to find a reason why a bullet would not penetrate through the door. In the mean time, the maid had been able to get through to the cops and the last thing I heard her say were “Please hurry!”. We stood there, wide eyed, staring at each other. The assault on the door had stopped and a eary silence fell over the house. It seemed like forever but a mere five minutes later, we heard a voice in the hallway… “Metro police! Anyonone in there?”

So I charge into the washing room this morning, ready to pummel anyone and anything into submission. With a giggle of relief, I found our maid standing with her hands in the air, staring at the gruesome face of a cricket the size of my thumb. I felt giddy with relief but as I stood there, shaking my head in mock jest of her folly, my world came crashing down for the second time. My ears started to humm and sing with a high pitched tone, like a t.v. set on “standby”, which grew lowder and lowder. My vision started fading and cold sweat broke out all over my body. I could feel my self losing my sense of balance and before I knew it, I was sitting on the floor. With the fog slowly clearing from my eyes and the singing in my ears fading to a soft whine, I motioned to the maid, whose face had changed from horror to shock, that I was allright. “This ***** heart of mine “, I exclaimed and stumbled back to my bed where I lay waiting for the nausia to subside. I have conditioned my self not to move too hastely as my prolapsing heart-valve usually kicks up a ruckass if I do but, the flight or fight response don’t wait for you to decide which is worse…the impending danger…or the fallout from a sudden change in blood pressure.

Sadly enough, this was but the beginning of my “wondrous” tuesday morning…

Not long after, I get a phone call. The receiver of revenue is looking for documentation from my previous employer. At that point, I was still calm and thought…”ok, this is not a problem, I can handle this”. The first phone call was ok, allthough the familiar voice of the receptionist did start to rattle some chains, binding a memory locked deep in the confines of my mind. I couldn’t reach the accounts department, however…so now I had to wait and phone again. With the second phone call, I could feel the tension creeping into those chains, the thoughts and memories causing the links to squeel in protest, as they tried to escape their confines. Still, no luck. With the third call…I lost the battle. The memories came pouring out. The scar that had healed so well, seemed to tear open from the inside out. All the emotions, the hatred, the shame, the injustice they had done to me. I am in a state of limbo…I can not get my self to do anything… I feel bound, as though those chains, keeping the memories in check had fallen onto the floor and snaked it’s way around me instead. All I can do is sit and wait for the chains to release their grip and for the memories to recede into that dark, deep abyss of my mind that spawned them…

At this point, if the receiver of revenue wants his information, he can go and get it himself. I am not going to test my resolve and waste my energy on those who stabbed me in the back and still torment me through the haunting memories that they engraved on my mind, twisting the blade to their satisfaction.

It is days like these that make me wish labodomies were still legal practice…

Are you done yet? And other blog related house-keeping…

January 30, 2012 4 comments

First order of bussiness…

I started two blogs, one for the BP (Bipolar) and a second for the MFS (Marfan’s), so I can keep the two seperated but that’s obviously not gona work, so I am gona have to drop the secondary blog and post about the MFS on Terminally Inconsistent. Someone have some nice ideas of how to seperate topics? I would more than likely post on both on a single day and having two posts…doesn’t work as a lot of people will tend to only read the latest post.

On to the depressing stuff… (erm, well not depressing per say…but it’s on the topic of depression…)

Executive Dysfunction…Sound familiar?

I have read a couple of posts that hints towards this topic. A lot of us, without knowing it, as PDoc’s tend to be closed mouthed about giving out information, suffer from a condition called “Executive Dysfunction”…me, definately. Currently, the condition has been defined under both Bipolar and ADHD (Adult version of ADD) and therefor you can be either diagnosed as Bipolar AND ADHD/ADD or Bipolar with Executive Dysfunction. They do differentiate, however, that Bipolar Executive Dysfunction is not as severe as the ADHD based one (in which case I have a new topic of discussion for my PDoc…i.e. ADHD). The condition is one of the major role-players in me not being able to function in a “Leadership”/”Initiative” orientated role, a unavoidable situation in my profession and therefor more than likely contributed to the downfall of my career.

Execute this…

Executive Dysfunction, is exactly that… The impairment of your ability to execute tasks. Goal orientated activities and the ability to start or complete tasks, all fall under this category. I for one, have allways had a problem with starting a task. Yes, most people do but it depends on the degree. It is not a factor of something else that I would rather be doing, as is the case in the more “balanced” individual, but rather being restrained from doing it. It litterally feels as though my mind shuts down whenever I think of doing it. Not only do I find difficulty in starting tasks but also finishing them and Goals, have never made sense to me and as long as the dysfunction persists, it never will. It’s not that I don’t understand the purpose of Goals, it is just that I don’t see the sense in them (if that makes sense). In fact, in many cases the use of goals, in an attempt to rectify the persons apparent lack of organisation and ability to complete tasks, is counter productive. Don’t get me wrong, I am not saying that goals are bad, quite the opposite, but without the knowledge of ED, expectations are created that things would improve because of the introduction of Goals and everyone knows that goals “gets results”, therefor, when this tactic fails, it is assumed that the person in question is either unwilling to cooperate or just plain lazy…either case being a damning verdict to the person’s credibility (unjustly so in the face of ED).

Erm…why did I buy that?

Another byproduct of ED, believe it or not (and I am sure many of you will have a light-bulb moment at this point) is Impulse Control. One of the key diagnosis criterea of Bipolar disorder. It is part of a wider “conspiracy” * silly grin * to trip you up in your day to day tasks and functioning. The main culpret, is in fact the inability to realise which task is the most important at the time. It seems weird, as in my mind, I always tackle the most important tasks first. Failure to see tasks as “important” often leads me down the path of inactivity. I am starting to suspect that the immobalising feeling I get when I want to work on a pet project or hobby, is due to the fact that my mind does not see it as important.

That is not a toy!

And finally, the identifying trait that almost blew my light bulb, even though it is the least of the difficulties caused by ED, is that when ever I would go to a co-worker or even the MD for a casual chat or to discuss a project, I find my self unwittingly, fooling around with the stationary and wot-not’s on their desk. At times, I would even walk away with them, once again, unwittingly. I can tell you, I have had many a weird look from co-workers as I walked away with their stationary. The one MD, in a very light hearted and friendly spirit, made me sit on my hands whenever I entered his office. But this does not only happen at work, it happens every where I go and a lot of times it irretates the living daylights out of people. It is a compulsive manipulation of objects around me, for no other reason other than the fact that they are there.

Don’t jump to conlusions…

It is, however, important to note that not everyone with Bipolar suffers from this, or it might be the case that it is so slight that it doesn’t register on the radar and is not much to be concerned about. This might be the reason why it is not generally included in the defenition of Bipolar Disorder.

So, are you done yet??