Stepping Into the World of Marfan

When you first step into the realm where those with the Marfan Syndrome live, it is easy to feel like a foreigner. It does not take long to realize that you cannot possibly know exactly what it is like to be one of these people. Dependant on the experiences and contacts the person has had, you may even find a bit of hostility towards you.

You have to be patient and distinguish yourself from the rest of the jerks that inhabit this planet. Because most of us know what the school playground was like. Now imagine being an obvious mutant there. Some people don't even grow up. They bellow their tokens of wisdom from the safety of their cars as they pass by.

The rest of us? Well, we let them speak for us by not offering understanding and support. Do we have to experience something, to speak up for those who do?

The first time I met someone who told me they had Marfans, I did not know anything about it, so the first chance I had, I looked it up. I was surprised to find out how much information was not available. Best I could tell less that a quarter of a million people are diagnosed with it in North America. It was interesting that I could get more information on an ultra-rare bird than a semi-rare human.

I did finally find one website that seemed to answer most of my questions. It was a network designed to inform and support those affected. It is called the National Marfan Foundation.

Now, anything is going to scare you that includes terms such as incurable, disabling and sudden death. I mean seriously, we try to distance ourselves from the cold cruel world whenever possible. Preferably while sitting on this side of a TV or computer screen.

Stuff like this, we assume, are the plagues of third world countries with no proper health care. We are bombarded everyday by commercials for drugs to cure whatever ails us. We American's do not run across too many things that cannot be cured or fixed.

However, here is the raw deal. Marfans, like Downs per se, is a genetic defect. A mutation. It cannot be reversed or "cured." A child born to even one parent with the disorder has a 50% likelihood of inheriting it. Not only that, but it is also a spontaneous gene development in the first place. So it can happen to anyone, anywhere, at anytime during conception.

The severity of the symptoms will vary from person to person and within families but in general here is a brief overview. Marfan Syndrome is characterized by a mutation that affects a specific protein structure in the body. The changes to this fiber cause certain tissues to be weak. The most notable are specific tissues in the heart, eyes, and all of the connecting tissues in the joints, and skeleton.

This results in the development of other disorders, which include but are not limited to Scoliosis, Arthritis, heart Arrhythmia, flat feet, Sleep Apnea, Emphysema, and Asthma. Of utmost concern is that in most cases without heart surgery at some point in their lives, a person with the Marfan syndrome would experience sudden death from heart complications.

There is a great need for research to find out the whys. Why this mutation occurs is unknown. Maybe if those questions could be answered, there could possibly be prevention.

The other area that needs research is management. This disorder attacks the body, plain and simple. In many ways, it is fair to say that people plagued with the Marfan Syndrome are in some state of falling apart. Even those who experience mild symptoms spend much of their daily life in pain.

Research into treatments that would make their lives better and more pain free is seriously lacking. Not to say that no one has stepped up to the plate, but what has been done is a drop in the bucket compared to what is needed.

I still do not know an overabundance of people with the Marfan Syndrome. However, I do know this about those I have met and heard about. They have a heart for people; they have a heart for life.

Now I assume you have noticed that while I have given you a few statistics, I still have not told you everything about Marfans, that is because it is time for you to do something. When you are done reading this paragraph, go to Marfan.org. Get informed. And if there is someone in your life who has Marfans, get involved!