This page is here to educate people in general as to how to recognize Marfan, what it's like to live with it, to provide me with a bit of a soapbox, and to tell you, Gentle Reader, where you can go to learn more. If you suspect that you or someone you know has Marfan Syndrome, do not write to me describing yourself and asking me if you have it. I am not a doctor. In order to be diagnosed, you must be examined by a doctor who is very familiar with the disorder. Not only can I not do that, it isn't possible for anyone to diagnose you without seeing you. You must see a Marfan doctor in order to be diagnosed, and you can find out more about doctors and support groups at the National Marfan Foundation.

Also, for any students reading this who want to write to me and ask me for "everything you know about Marfan Syndrome" and "any personal experiences you have had with it" -- it's all here. Just read this. Read the page thoroughly before writing to me, feel free to quote -- not plagiarize -- and please list my URL in your bibliography or footnotes. You may also wish to check out the links I list to learn more. Good luck with your projects!

1. What is Marfan Syndrome? -- a big pain in the ass. Okay, aside from that . . .
   • DNA and the Genesis of Marfan Syndrome -- so what causes it, at the molecular level?
     • And what on Earth is DNA, anyway?
   • General Symptoms -- what do Marfan people look like? What are the general indicators that someone has it?
   • The Biggies -- details about the most crucial and lifethreatening symptoms:
     • Heart Involvement
     • Aortic Dissection and Aneurysm
     • Scoliosis
     • Joint Laxity
     • Eye Problems
     • Costochondritis -- inflammation of the connective tissue around the ribs -- not crucial, but it can sure feel like it.
     • Dural Ectasia -- herniations in the lining of the spinal column
   • Is there a cure?
2. How did you learn that you had it?
   • How did you adjust to finding out?
3. What if I think I (or a child I know) have it?
   • I heard that the life expectancy is 30 years. Christ! Am I going to die at 30?
   • HMO versus PPO -- which insurance makes this process easier
   • Less Than Stellar Doctors -- How do I know if my doctor isn't taking this seriously enough?
   • I/my friend/a relative dissected and died/almost died! What can we do?
   • My doctor said I was mild. I should be okay then, right?
   • We are going to have a child, and I/my spouse has Marfan. What are the chances that the infant could inherit it?
   • I just had a child who has been diagnosed with Marfan, and neither I nor my spouse have it. What could I have done?
4. What have you done about it?
   • Beta Blockers
   • Anticoagulants (for people who have had mechanical heart implants)
   • Sports
   • Keeping your teeth in good shape
   • Alternative Medicine and Marfan Syndrome
   • Behavior restrictions -- what you shouldn't do or need to avoid
   • Clothing -- online sources for sleeves and pant legs that fit, damn it.
5. So has this really affected your life?
   • So wow, you're disabled?
   • Are learning disabilities or other stuff like that associated with Marfan Syndrome?
6. Might genetic testing make Marfan Syndrome a thing of the past?
7. Is Marfan Syndrome in the news at all?
8. What are the latest advances in treating Marfan Syndrome?
9. Women and Marfan -- body image issues
   • How about pregnancy?
10. Where to learn more -- web sites and mailing lists, including international contacts

What is Marfan Syndrome?

DNA and The Genesis of Marfan Syndrome

Marfan Syndrome is a rare genetic disorder affecting roughly 1 in 10,000 (probably higher, maybe 1 in 5,000 or 1 in 3,000) individuals, with no tendency to prefer one ethnic group or gender over another; people of all ethnicities and either sex are equally likely to be affected. It is a malformation of Chromosome 15, specifically the part of it that is used by your body to manufacture connective tissue. (Here's a graphical picture of the little bastard for those who are interested. The section labelled FBN1 is the culprit.) What's that mean? Read on!

There are a bunch of different materials (called proteins) that your body has to manufacture to make one of you, and it has to be able to consult a recipe book someplace for instructions on how to make them. That recipe book is your DNA. Now, one of these materials that your body has to be able to make is called "connective tissue." It's made of a bunch of different ingredients, one of which is called fibrillin. The FBN1 section of C15 is where your body finds its instructions on how to manufacture fibrillin -- and if you have Marfan, that section of C15 has a typo in it. What this means is that your body doesn't have the right instructions for making this stuff, and hence your connective tissue isn't right. It's weaker than normal.

Since Marfan Syndrome originates with the DNA, you'd think that it would run in families, and you're right -- it does. For example, I apparently inherited my Marfan from my father, who was never diagnosed before he died. This would seem to indicate that people in the same family, who presumably have the same typo on their Chromosome 15, should have similar impairments -- that if the rest of your family hasn't had major eye problems, maybe you won't. If your family has cardiac problems, but no skeletal problems, then you shouldn't either. This isn't always true, though. Some people who inherited their Marfan from their parents have greatly differing levels of impairment from them -- a father or mother who lived to be 60 can have a child who died from Marfan at 20, and vice versa. A Marfan-affected parent who had multiple retinal detachments can have a child whose eyes are fine, but who had severe scoliosis.

This sounds like it doesn't make sense, but on reflection it actually does. Connective tissue is made up of a whole bunch of ingredients, of which fibrillin is only one. Just because two people have the same messed-up fibrillin doesn't mean that their connective tissue is otherwise identical. Perhaps one person's connective tissue is a tad bit stronger otherwise, such that it can tolerate the weaker fibrillin longer, and another's might be weaker otherwise, such that the weakened fibrillin pushes it too close to the edge and it fails. One person's DNA can code for strong ingredients for eye proteins other than fibrillin, while another person with dislocated eye lenses can have a strong skeleton. Hence, the degrees of impairment in each member of a family with Marfan aren't necessarily going to be the same.

There are also multiple instances of people developing Marfan when no one else in their family had it -- this is called "spontaneous mutation." When an egg and sperm come together to create a full human genetic code, that process itself can induce typos in the genes. Many of these don't really do anything, but if during that process, the FBN1 section of C15 isn't copied correctly, Marfan Syndrome will result in the fetus even though it wasn't present in either of the parents. This sounds unlikely, but the copying-process that goes on during fertilization is actually more prone to typos than most people think. After all, mutation is how evolution moves forward, and new characteristics for a given species arise. Up to 30% of all Marfan Syndrome cases arise from spontaneous mutation.

For a more in-depth explanation of what DNA is and how it functions, check out my DNA primer.

General Symptoms of Marfan Syndrome

Now, connective tissue has been called the "glue and scaffolding" of the body, and it is used to provide shape and support to many parts of the body. In someone with Marfan, we've seen how the connective tissue isn't properly formed. This improper formation manifests itself in any or all of the following ways, in widely varying degrees of severity:

• Long limbs, fingers, and toes, including armspan exceeding height. For most people, the armspan and the height are roughly equal. For those affected by Marfan Syndrome, the arms are noticeably longer. For example, my height is 5'8", but my armspan is 6'2", exceeding my height by 6". You can also see from my hands, which are very long and flexible, a good example of the general bone structure of someone with Marfan. And no, it doesn't hurt in the slightest to bend my fingers back that far. I've always been mildly surprised that others couldn't do it.
• Tall, thin stature. Usually, the body type is also gangly or lanky. Please note that while most people with Marfan are pretty tall, we're not always skyscrapers. In my family, the tallest of the three of us siblings does not have Marfan Syndrome.
• Narrow and/or sharp-featured face. This can include a narrow mouth with a high palate and consequently crowded teeth.
• Prominent stretch marks. I'm not talking about the sort that pop up from weight gain. I'm talking about very noticeable ones on very thin people on the back or hips. They can pop up fairly young. For example, I had stretch marks on my butt before I had a butt. I believe they come from the body elongating faster than the skin can grow, along with the relative lack of elasticity of Marfan skin.
• Caved-in or pushed-out breastbone. The technical names for these conditions are pectus excavatum and pectus carinatum. When you have Marfan, your ribs can overgrow and either push the bottom portion of the sternum in or out, resulting in a bump or a noticeable hollow spot. These can be either a slight dent that you have to run your fingers over to feel, or something so noticeable that it can crowd your heart and lungs.
• Off-center lenses in the eye (ectopia lentis), and myopia (nearsightedness). This can be of varying severity, from a minor astigmatism to an instability in the lens that requires that it be surgically replaced. Retinal detachment is also more likely in people with Marfan Syndrome.
• Very loose and injury-prone joints. This often includes the spine, which can be affected by scoliosis (an abnormal side-to-side curvature of the spine).
• Decreased elasticity of lung tissue, causing an increased tendency toward spontaneous pneumothorax, a fancy-schmancy medical term for "collapsed lung for no apparent reason."
• A weak and rupture-prone aorta and suboptimal heart valves. When your heart pumps, it sends blood to all of your body. The first major "highway" for the blood that it enters before branching off on its way to the rest of your body is the aorta, a very large artery that can be up to 1.5" across in most adults. In those affected with Marfan Syndrome, the blood vessels are less flexible than normal since connective tissue is used to build them. This isn't usually a major problem (depending on how severe your Marfan is) except for the aorta, which is fairly big and right next to the heart. As a result, it is subjected to the full force of the heartbeat. This pounding can, over time, wear down the aorta until it ruptures, which is equivalent to being shot in the heart. It drops you in less than a heartbeat, permanently. This is easily the most serious symptom of Marfan Syndrome, and happily with the advent of modern medications and surgical techniques, it is also manageable -- as long as you are aware of the problem and are taking corrective action. Often, beta blockers are prescribed to lower the blood pressure and lessen the stress on the aorta and valves.

Heart Involvement

Before I get into this, I'd like to explain a bit about just how the heart works.

The heart is actually a pretty neat organ, although thinking about it for any length of time can be intimidating. It's a muscle -- and ideally a very strong one -- and it doesn't dare take a rest from working! Let's look at the process by which the heart circulates blood around your body.

First off, it's important to realize what the blood does. It's actually a very multi-purpose organ (yes, you read that right -- your blood is a body organ) that does a lot more than just slosh around in you. It delivers oxygen to your body's cells so they can get energy from it and go about their business. It removes carbon dioxide from your cells, that they give off as a result of the process of getting energy from oxygen. It carries nutrients to your cells, too, like the vitamins and sugar from your last night's dinner. It carries waste products from your cells to be cleaned out by your kidneys which you urinate out. It delivers lymphocytes, your immune system's shock troops, to areas that have been invaded by germs and other ickies.

So it's a busy bunch of stuff, frankly. It plays multiple roles:

1. delivering oxygen to your body and removing carbon dioxide,
2. delivering nutrients and removing waste products,
3. and delivering white blood cells to knock out any bacteria or germs.

The heart is intimately involved in the first of these roles. And the way it carries this function out is the following:

The Right Atrium -- the blood's first stop

So your blood wanders all around your body, delivering good stuff and picking up bad stuff to be disposed of. When it's out of good stuff (oxygen) and holding as much bad stuff (carbon dioxide) as it can, after a full trip around your body, it arrives at the right atrium by way of the vena cava. It's called "blue" blood at this point, but it's not really blue. On the picture, I've drawn it a sort of dark red-violet. Your heart squeezes from the top, pushing this oxygen-poor blood through the tricuspid valve to

The Right Ventricle

Once the oxygen-poor blood arrives here, your heart squeezes again, from the bottom this time, and pushes this oxygen-poor blood through the pulmonary valve into:

The Pulmonary Artery

and onward to the lungs. While you breathe, blood circulates very near the air sacs in your lungs. When you breathe in, your are taking in oxygen from the outside, and this oxygen crosses the thin membranes separating the blood from the air in your lungs. Thus, the oxygen finds its way into the blood. Also, the carbon dioxide that your blood has been carrying around finds its way into the lungs, and is ejected when you breathe out. So while you're respiring (fancy medical word for breathing), you're actually rejuvenating your blood! Then, the blood -- cleansed of carbon dioxide and full of oxygen -- returns from the lungs to

The Left Atrium

Once the now oxygen-rich blood is here, the heart again squeezes from the top and pushes the blood through the mitral valve into

The Left Ventricle -- the heart's dynamo

This is the strongest and hardest-working of all four chambers of your heart, the one responsible for supplying your body. Once this chamber has filled with oxygen-rich blood, the heart squeezes from the bottom and sends the blood through the aortic valve into

The Aorta -- the body's supply line

And branching off from the aorta are a bunch of smaller and smaller arteries that go off to supply your entire body with blood and oxygen.

Of course, this doesn't happen in succession like I've written it. Both the right and left atria fill at the same time, and when the heart squeezes from the top, both the right and left ventricles are filled. When the heart squeezes from the bottom, the atria fill up again, and blood is sent both to the lungs to be "rejuvenated," and off to the body to do its job. (BTW, "pulmonary" is just a fancy medical word for anything related to the lungs, like "cardiac" means heart-related.) The whole process looks something like:

and the valves are labelled as follows:

The problems with Marfan Syndrome center around the valves on the left side (aortic and mitral), and the aorta itself. Unsurprisingly, the left side of the heart is more powerful and works harder than the right, since it's sending oxygenated blood on to the body. As a result, the mitral and aortic valves are put under a lot of stress. Since connective tissue is used to build them, and this material isn't properly made in someone affected by Marfan Syndrome, the stress can damage the valves.

The valves themselves may also not be properly shaped, an example of this being Mitral Valve Prolapse, a condition where the mitral valve is a bit looser and floppier than it should be. Up to 5% of the general population has MVP, as it's called, and in the vast majority of cases, it's just not a problem. However, if the flaps of the mitral valve don't fit together properly, blood can backwash into the left atrium as the heart pumps. This lowers the efficiency of the heart, since some oxygenated blood isn't being properly pushed forward as it's supposed to be and hence doesn't get sent through the aorta on to the rest of the body. This can result in an enlarged left atrium, as this chamber tries to make up for its decreased efficiency by increasing in size.

Another possible valve deformation that can occur is a Bicuspid Aortic Valve. Ideally, the aortic valve has three leaflets that open and close to let blood go through the aorta and prevent it from backing up into the heart. Sometimes (and like MVP, this can exist in a person who doesn't have Marfan; it's actually the most common of cardiac anomalies), the aortic valve can have two leaflets instead of three, and often it appears that two of the normal ones fused into one abnormal one during the heart's formation in early life, reducing the number of leaflets from three to two. A bicuspid aortic valve can be similar to a prolapsed mitral valve in that it can cause problems or not, depending on the severity and any other problems that it may be found with in a given person's heart. The valve can narrow and cease to function well, causing what's called valve stenosis, or blockage. It can also have problems closing properly, and start backwashing blood into the heart, decreasing the heart's efficiency and causing the left ventricle to increase in size to try and make up for it. It's usually replaced with a mechanical valve if/when it starts kicking up trouble.

By far, the most important problem with this ingenious system, though, lies in the aorta. Since connective tissue is used to construct the aorta (and every other vein and artery in your body), it can be weaker than normal in someone affected by Marfan Syndrome. As you might surmise, the aorta is put under a lot of stress as well. It carries all of the body's blood supply, while it's making a 180-degree turn besides, and plus it's right next to the left ventricle and subjected to the full force of the pounding heart.

Over time, this weakness causes the aorta (at the root -- the end closest to the heart with the valve in it) to widen or dilate. As the aortic root dilates, this can further complicate things, as the flaps of the aortic valve might not close all the way now. Think of putting in a door that's too narrow for the doorway; even if it's closed as far as it can be, there will still be open space. As the "doorway" of the aortic root widens, the "door" of the aortic valve is no longer wide enough to close it off when it should. Again, this means that blood can backwash into the left ventricle, decreasing the efficiency of the heart and causing the left ventricle to increase in size, as I described earlier when talking about bicuspid aortic valves.

Also, the widening process causes the aortic wall itself to thin and weaken. If this process goes on without intervention, the aorta can widen and weaken so far that it actually rips -- as you might imagine, this is not survivable without immediate surgical intervention.

Aortic Dissection and Aneurysm

There are two words that you might hear used to describe aortic events -- a dissection, and an aneurysm. An aneurysm is a sudden weakening of the aortic wall that causes it to balloon outward, like a weak spot in an inner tube. These can burst very easily. A dissection is a peeling-away of the inner layer of the aorta, weakening it severely and also carrying a high risk of death from an aortic rupture.

Not surprisingly, this is extremely painful but hard to diagnose. It involves massive chest pain, searing and unlike anything else you've felt before. It's been described as a "spear in the back." Since the aorta runs from your heart down to your abdomen, this pain can be located anywhere along that line. It can seem like extreme heartburn, a heart attack, a massive muscle spasm, or anything number of other things. If you feel this, get to an emergency room as fast as you can go -- don't drive yourself. Get an ambulance. Make sure that they know that you may have an aortic dissection. Sometimes blood can leak out of the aortic wall because of the dissection, and this may cause a fever. Don't let them hand you antibiotics and send you home, or they might as well punch your transfer ticket to the hereafter.

Aortic dissection can often masquerade as other ailments -- a heart attack, an infection, a stroke, an inflammation of the lining of the heart. If you have major symptoms that would indicate a dissection and you know or suspect that you have Marfan Syndrome, you must be evaluated for a dissection. I've had it done -- it's not that bad. You will get an IV with some dye given to you and be given a CT scan. More information about aortic dissection can be found at the NMF's web site.

Again, I can't overstate the urgency of the situation if you feel that you are experiencing a dissection or aneurysm. Getting to a hospital is not optional, it's a must -- they may well start anaesthetizing you before the wheels on your gurney stop moving. If the weakened portion of your aorta should burst, and you aren't opened up and connected to a heart-lung machine already, survivability is pretty much zero.

The treatment will usually involve replacement of the aortic arch with a Dacron graft, and replacement of the aortic valve with a mechanical valve. Most of these mechanical valves do not require a power supply or anything like that, but rely on the fluid flow of the blood in the heart to open and close. Because they are not natural materials, blood can stick to them and clot; hence, anticoagulant medications are needed for life to prevent the formation of blood clots which can then break loose and cause major problems in the rest of the body, such as a stroke. These medications prevent blood clots, which means that they interfere with the normal healthy clotting process as well, such as when you cut yourself and begin bleeding.

Scoliosis

Scoliosis is an abnormal side-to-side curvature of the spine. The spine normally curves a bit in and out in a healthy person, but from the back appears to go in a straight line from your backside to your neck and into your skull. For someone with scoliosis, the spine curves from side to side as well, sometimes profoundly enough that the ribs hook into the hips or even one another. Not surprisingly, this can (and usually does) result in pretty intense back pain and depending on the degree of curvature, can result in significant disability as well. The ribs are also usually crooked, and this can result in a "hump" on the back that can range from noticeable when the affected person bends over to noticeable even from a distance.

It's important to realize that this isn't just an artifact of poor posture, and it cannot be cured by simply exhorting the affected person to "stand up straight." You can stretch my skinny butt on a medieval torture rack, and my spine will still hang at that (lousy, stinking) 28 degree curvature it's had since I was a teenager. I can no more stand in a way that straightens my spine than Michael Jordan can stop being so tall. The curve can be anything -- from a relatively mild 20 degrees to well over 90 degrees, and that is not a typo.

The scoliosis can present many problems, particularly if the curve progresses. This can involve spinal fusion surgery, one of the least pleasant things in the universe to have done to you. Braces are a possible alternative if your curve is moderate and you can't tolerate the idea of surgery. There is also a program called the Copes program that claims to have had some success correcting or at least arresting spinal curves with a combination of bracing, physical therapy, diet, and lots of other things. If you are near Baton Rouge or San Diego, you're in luck since they have programs there. If not, check out http://www.scoliosis.com/ for more information. Again, don't write asking me, since I can't tell you squat. I'm a PR specialist, not a doctor. If you want to have four-color negatives printed up for a 2-page ad in a buyer's guide somewhere, talk to me. If you want me to tell you whether the Copes system will work for you or what shape your aorta is in, you'd have better luck asking a Magic 8-Ball.

Joint Laxity

The joint laxity comes about because, along with all the other body parts I've discussed (heart valves, blood vessels, etc.), tendons and ligaments are also made up of connective tissue. Most people know of tendons and ligaments as only those things that hurt like mad when you play too much weekend basketball, or those things that go poing! in your knee and you're never quite the same again. Well, those facts are usually correct, but as with almost everything else, there's more to it than that.

When your muscles contract, they move your skeleton and your limbs along with them. In order to move your bones, they must be tacked to them at various places. The ends of your muscles are attached to your bones by tendons, thick bands of connective tissue. And in order for your joints to function properly, they have to be stabilized. You have to have ligaments to keep the bones in their proper orientation with respect to one another -- to keep the bones of your upper and lower leg butted up against one another, for example.

And of course, when you have Marfan Syndrome -- sing it with me, now! -- your connective tissue is weaker than normal. :-) And this results in lax joints that can be bent further than they should be since the ligaments are too loose. They are also weaker than normal since the muscles aren't attached to the skeleton as tightly as they should be. This means both that the muscles can't pull as hard as they are capable of, and the joints are looser than they should be, resulting in things like this, where I'm capable of bending my fingers back a whole lot further than most people can. It doesn't hurt a bit, and it takes zero effort. Many people with Marfan also have very loose knee joints, and when we lock our knees while we're standing up, it can appear that our legs are bending slightly backwards. My hands are much stronger than most people's though, only because I've been a pianist since I was 10, and I'm used to pounding out Chopin and Joplin.

This joint laxity also results partly in our tall stature and tendency to osteoporosis. Think of the growth of the long bones in your arms when you are entering puberty. They are growing in one direction -- but they are growing against resistance from the rubber bands called tendons and ligaments that must stretch to allow them to grow. It's like wrapping a rubber band longways around a curtain rod, and then trying to extend the rod. The extension is happening against resistance. And what happens when the resistance is less than it should be? The bone overshoots, and becomes too long. Hence, longer than normal arms, legs, hands, and feet. And with the complex of connective tissue holding the jaw and facial muscles to the skull, the complicated weaker-than-normal tissue results in somewhat sharp facial features as well.

The osteoporosis comes about when you consider the way that bones grow. Many people are aware that scientists can often tell something about a person's occupation by examining their skeleton. A blacksmith or softball pitcher can be told by the thicker bones in their dominant arm. Since the muscles were stronger on that side and put the bones under more stress, the bones grew and thickened in response to that stress. With Marfan, the muscles aren't able to tug as hard as they should at the skeleton, so the bones don't ever get stressed as much as they should. Hence, they are left a bit weaker than normal. Also (and this may be related), some research has indicated that the bones of people with Marfan have fewer sites for calcium to bind to in the first place. This means that even if we were to take in more calcium, our bones might not be able to use it. That's still being studied, though.

This hasn't been a problem in the past because, in the past, most people with Marfan didn't get old enough for osteoporosis to become an issue, and we still don't know how it will impact old age in people with Marfan. Ours is the first generation to expect to live a full and long life with the disorder, so we're going to be learning a lot of things in the next few decades!

It's also important for men with Marfan to be aware of their bone density as well. Osteoporosis is often presented as a women's concern, and in the case of men with Marfan (and many men without), they need to be aware of it as well.

Eye Problems and Marfan Syndrome

People with Marfan Syndrome also tend to have bad eyesight -- usually we're myopic (nearsighted), and the lenses in our eyes (situated right behind the pupil) can be off-center as well. The lenses are held in place by connective tissue on the top and bottom. (Emphasized in light blue in the picture.) If these strands are weak, as they are for us, a few can break. This shifts the lens in the other direction because more strands are now tugging on it from that side, and this stresses the remaining unbroken strands even more. Thus, more of them break -- and over time, this vicious cycle can cause the lenses of the eyes to wander off until they aren't at all where they should be. Some people's lenses have even detached and settled to the bottom of their eye, or else popped through their pupil. Other people, such as myself, are simply crushingly nearsighted and have had no major eye events so far -- knock on wood.

While the prospect of eye problems is incredibly frightening, sometimes more so than the heart symptoms, it's important to realize that many people who have had their lenses removed and replaced with implants speak glowingly of having 20/20 vision for the first time in their lives. Eye surgery is very finicky, and sometimes implants don't work out as well for people with Marfan since our tissue is weaker than normal. But they work swimmingly for many.

The primary symptom of a lens that has slipped far enough to be a serious problem is a "window-shade" sort of effect, as if someone were sticking their finger up or down into your visual field. If you have this in your field of vision, get to a hospital NOW. Letting it go for long can make the difference between retaining your lens, or losing it.

Another eye problem that many people with Marfan have dealt with is a detached retina. The retina is the light-sensing layer of cells at the back of your eye, exactly analogous to the film at the back of a camera. This layer of cells is held in place with connective tissue, and since it's weaker than normal in people with Marfan, that means that it can detach and flap around in there sometimes. Detached retinas are also nontrivial, and are definitely "get to the emergency room NOW" material, but they are also somewhat fixable. If you see sparkles or an aura or glow no matter what you're looking at, a detached retina is a serious possibility. Get to a hospital immediately. Detached retinas can sometimes be reattached to give you your vision back, but this is by no means a foregone conclusion, and they must be treated quickly. If you let it sit for even an hour, you risk losing the sight in that eye permanently. If you're having any eye symptoms like the ones I've described for dislocated lenses or detached retinas, turn off the damned computer NOW and call an ambulance for yourself.

Costochondritis

It's quite a tongue-twister, isn't it? It's even hard to type. Costochondritis is an inflammation of the connective tissue that covers and surrounds the ribs. It can probably trace its cause back to a variety of reasons -- the weakness of the connective tissue probably makes it wear out faster between the ribs, like poor cartilage wearing out between the bones of the knee joint. Also, Marfan Syndrome is often accompanied by scoliosis, with its attendant misalignment of the ribs. This misalignment can put pressure on the connective tissue that lines the ribs, which may explain the inflammation and pain.

Either way, it's pretty well documented for people with Marfan Syndrome. The pain itself is rather sharp, and can be localized by pressing on the affected area. At times it can be "tight," and masquerade as a heart attack. For women, it can also masquerade as breast pain. Of course, any symptoms that feel like a heart attack or breast pain should be definitely checked out. People with Marfan Syndrome are old friends with heart problems, and anyone needs to be on the lookout for symptoms that can hint at breast cancer. But if you go in to the doctor and they find nothing to indicate why you feel a sharp pain in a certain place, or why you can breathe in so far but no farther without pain, be aware of costochondritis. It can be minor, or it can hurt enough to be debilitating. Definitely keep it in mind.

Dural Ectasia

The central nervous system is surrounded by a thin membrane that holds it and a thin layer of fluid (called "CSF" or cerebrospinal fluid) together as a sort of soft envelope. The central nervous system consists of the brain and the spinal cord.

And this envelope, called the dura, is also made of connective tissue. and hence it's weaker than normal if you have Marfan Syndrome. Since the brain is contained in a form-fitting case, it's fairly okay. But the spinal cord isn't so lucky; it's contained in a large complex joint of bones that move past one another -- your spinal column. And since the spine is big and moving and has some small gaps in it, the weakness of the dura matters more there. It can form hernias, little areas of bulging where it has become unusually weak, sort of like an aneurysm.

These little bulges come in all sizes and all severities. The one thing they have in common, though, is that they cause pain since they can push on nerves. Pinched nerves, tics, twitches, numbness, shooting pain, all of these things can be a symptom of dural ectasia (just the fancy word for "herniations of the dura"). They are delicate and can be either a minor annoyance or a major problem -- but they also share another quality: they are hard to diagnose. As a result, the pain that they cause can be misdiagnosed as any number of things from MS to lupus to hypochondria. If you have Marfan Syndrome, it's important to realize that dural ectasia may be the cause of any neurological symptoms you have, and you must make sure that your doctor is aware of the possibility. They are not as well known a symptom of Marfan Syndrome as they should be, and a misdiagnosis can leave you in pain, and dealing with an unneeded treatment that can leave you worse of than when you started. Their presence can often be confirmed via an MRI exam.

Is there a cure?

Unfortunately, no. Marfan Syndrome, as with many other genetic disorders, is not that amenable to a cure, per se. This is because every single copy of Chromosome 15, all over my body, is messed up. In order for the syndrome to be "cured," every one of those copies would have to be fixed, and there are millions. This is just beyond the boundaries of what can be done. Fixing the problem before it got too big would have meant going into the DNA of the fertilized egg that was me in 1965 and replacing that one bad copy of C15 that I inherited from my dad before it multiplied into the zillions that I have today.

There are some other genetic disorders that can be ameliorated or even cured through gene therapy -- where the bad copies of a gene are replaced with good copies. However, in all of these cases, the bad gene that was replaced only did something significant in one area or organ of the body -- such as a bad copy of a gene that affected the liver. All you need to do is replace that gene in enough of the cells in that one organ to affect a positive change.

The problem with C15 is that it is in use all over the body, in absolutely every single body system. The problem can't be localized. This makes it lots harder to deal with. The only possibility I can see in the future is a viral therapy that is injected into the body that inserts a proper copy of C15 into every cell in the body over time, and then obediently dies off. However, outside the frontiers of some science fiction novels, this is just not doable with today's technology, yet.

It's analogous to building a house with materials that aren't up to snuff. If the kitchen cabinets haven't been leveled, that's a localized problem. You just pull them out and put new ones in, and it's settled. It won't affect the heating system, or the bathroom plumbing. But if the very construction materials of the house and the foundation aren't the best (think of connective tissue as the plywood of the body), those materials are used all over the house. Chances are, you might not be able to fix the problem, and you might wind up writing the house off and moving out. The difference here is that I can't "move out" of my body, so I must treat it with some special care to keep it working.

How did you learn that you had it?

I've always been very unathletic and easily winded, even as a child. On all of the standardized physical tests they give you in grade school, I lagged far behind my peers in anything at all requiring exertion. I couldn't chin myself once, couldn't do a pushup to save my life, and could only run once around the gym before getting so winded I had to stop. (No, scratch that: I could do a half a pushup -- the down part.) You'd think that the teachers would have realized that something was up -- clue alert for all teachers reading this: If you give children standard tests, they are utterly useless unless you react to those who are incapable of even meeting the minimums. I'm 5'8", only middling tall, but absolutely towered over all classmates as a youngster.

As a teenager, I had terrible back pain that went untreated, and did not know (although I suspected for years) that I have scoliosis. I'm 33 now, and my back is still sub-par and frequently quite painful, and my knees click and crackle like Rice Krispies. I only recently realized that Marfan runs in my father's side of the family. Two uncles showed physical signs of Marfan, one of whom once had to be opened from chin to groin for an aortic aneurysm. None of them have been diagnosed, however -- most are or were Depression babies, when medical treatment consisted of getting your arm set if it broke. My father was also loose jointed and narrow although not tall, and died just prior to his 58th birthday in 1987.

Even when I was in college at Penn State, I lived on the south end of the campus -- which sloped upward to the north. I would have to hoof it to make it from College Ave. to a class at Rec Hall (waaay the hell up to the north, near Beaver Stadium) in ten minutes, and would be so out of breath by the time I got there that I'd be gasping. I figured that it'd be great -- I could see my wind improve as the semester progressed. Nope -- December rolled around, and I was still blue and gasping when I made it to Rec Hall.

I also have a very narrow face, inherited from my father, with the consequent crowded teeth. When I visit my periodontist, he must take x-rays with pediatric film since the adult film is too wide for my mouth. Imagine! After being called a bigmouth for so long, the opposite is actually true! ;-) And interestingly enough, I also look an awful lot like my dad, and not just because we were both thin and narrow. Minus about 50% worth of Nose, I am the spitting image of my dad, with the obvious plumbing differences. You can see him and a 3.75yr old me in the picture at the right. We're essentially identical.

Although I haven't had any heart surgeries or anything like that yet, thank Kali, I have had what I now recognize as heart episodes when I was in college and grad school. I'm not entirely certain what they consisted of, but what I do know is that I lost consciousness and went down like a puppet with its strings cut. The first time was around 1985 or so -- and although I do not remember it hurting to hit the tiled floor in the library, I was shocked the next day to find large triangular black bruises on my hipbones and one cheekbone. The time in grad school there was one witness who called for an ambulance -- which was cancelled. I visited the supposed student "health" center, and was pooh-poohed in the most patronizing manner possible by the doctor there, resulting in a dislike of medical professionals that prevented me from seeing another doctor for years. For any MD's reading this -- if you blow off, dismiss, or patronize your (female) clients, all you are doing is insuring that they will not go to a doctor even if they need one. Why go if you're just going to be treated like a dimwitted fool? And their poor health will be your damned fault.

I hadn't even known about Marfan or anything like it until my ex-BF's father was diagnosed with Mitral Valve Prolapse around ten years ago. This is a malformation of the mitral valve of the heart that makes it a little looser and floppier than it should be, and it exists in up to 5% of the general population. It's not usually a crucial life-threatening thing, just a variation in shape, which exists in varying degrees of severity. Most people who have MVP do not need any treatment whatsoever, aside from antibiotics before dental work. Some require beta blockers, more on which later.

Anyway, I read the literature that he received idly, which mentioned Marfan Syndrome as well; while most people who have MVP don't have Marfan, most people who have Marfan do have a floppy mitral valve. While reading it, I realized that I had every single symptom -- long arms, narrow face, poorly-fitting jaw and other joints, scoliosis, racing/pounding heart . . . yep, yep, yep, all me. So that was what started me out thinking about Marfan.

I did nothing about it for quite some time, not wishing to be officially diagnosed with anything for fear of having an insurance company get spooked and drop me, even if it is at this point in my life a minor ailment. However, when I researched Marfan Syndrome more with the advent of the World Wide Web, I learned that this was simply not something that I could treat myself. I'd need minor and inexpensive -- but crucial -- medical attention. And that attention might well become much more involved as I age (viz.: heart surgery).

My diagnosis is relatively recent (March 1999), and I am still adjusting to the medical nonsense that comes along for the ride with something like this (the medicalert tags, the beta blockers). As recently as the 1970s, the lifespan for anyone affected by Marfan Syndrome was only in the mid-40s, but recent advances in surgery and medication have extended that until half of all those affected live past the age of 70 -- a normal lifespan. And many of those beneath that average died young because they left their Marfan Syndrome untreated, or were unaware that they were affected, like my father. If there can be said to be any such thing, this is the best time to be affected by Marfan Syndrome in medical history, and it can only get better from here.

In order to be diagnosed, I went to the National Marfan Foundation and did a search of the nearest large city to me (San Diego). That turned up a few contacts, one of whom I wrote to asking if she knew of a good doctor with Marfan experience. She did so, and I made an appointment to be evaluated. If you are interested for yourself or someone else, the NMF is an excellent place to start. I strongly encourage you to contact them. It's best to go to a doctor with experience in Marfan Syndrome, since it is uncommon and it does manifest itself in such diverse ways. Many doctors will not recognize it, and with the cardiac involvement that Marfan Syndrome often includes, that can be fatal. People have died from Marfan related complications in their teens.

This can be a particular problem if you are female. Doctors will often brush off any complaints of vague and apparently unrelated symptoms from a woman, particularly when they involve heart rate. Prior to being diagnosed now, in 1999, I was a graduate student at UC Irvine for several years, from 1989-1993. During that time, I attempted to learn more about Marfan Syndrome at the student "health" center, and was told that my crackling knees, scoliosis, racing/pounding heart, and narrow jaw weren't a problem, because "it's not unattractive." That told me a lot more about those so-called three doctors than it did about my health: Obviously since a young, attractive woman is Sex On A Stick to these male doctors, her ability to get laid is the single most significant quality about her. As long as that's intact, what the hell is she complaining about? I hope all three of those bastards get a plague of cannibalistic head lice.

*ahem*

How did you adjust to having it?

In stages. No, really, this takes longer than you think. And for me, it was a bit more . . . eventful than it otherwise would have been.

I made an appointment to be evaluated on a Monday, and the Sunday a week before I ended up in the emergency room. That whole weekend, my back had been positively killing me, right between my shoulderblades, and that Sunday night, it suddenly got much, much worse -- felt like someone had stuck a spear in my back.

It's not like being incapacitated by back pain is entirely unfamiliar to me, but I figured that it would be my luck to experience a dissection a week before I'm going to be evaluated for Marfan. I felt silly doing it, but kept thinking of my mom finding out that I was in a freezer, so I took a deep breath and called an ambulance for myself. They came, brought me to Scripps, and they did a CT and x-rays on me -- the MD there was very careful to evaluate me, and took my concerns about Marfan seriously, so I didn't find myself in the situation of having the ER staff blow me off, for which I am amazingly grateful.

End result: I did not have a dissection; apparently the pain was just my back acting up as usual. However, they did find "mass of tissue extending up into my neck." The MD mentioned a number of possibilities, one of which was lymphoma; of course, that was the only word I heard, and I think I got about 10hrs of sleep total the following week waiting to see my cardiologist to be evaluated for Marfan. I kept thinking of telling my mom I had lymphoma, and throwing up.

A week of this joy goes by, and then I was in Dr. Moir's office, and he was poking and prodding and eyeballing the way doctors do -- his verdict: I did not have lymphoma, but did have Marfan. (The mass of tissue was an unusually large thymus gland, atypical but not exactly hen's teeth, either.)

Well hell -- by that time, I was euphoric! Great news, everybody -- I have Marfan Syndrome! I didn't care -- Marfan Schmarfan, it wasn't lymphoma. So walking out of Dr. Moir's office was one of the best days of my life. Later, the positive effects continued, since the Marfan diagnosis made so much sense. All of the various "unrelated" things that had been wrong with my body were actually all the same problem -- Marfan. It was validating to find out that it was all just one problem, and that I wasn't an overwrought hypochondriac girly like other MD's had always implied.

My feet started coming back down to Earth in stages -- the first stage was when I started thinking of the various signs of it that my dad had, that we never caught. I had always figured that I got it from him, but as I thought back to the time that our family dentist remarked that I got my narrow jaw from him, and the time that his gallbladder incision herniated, it struck me that it could have been caught. I was and still am extremely close to my dad due to a lot of shared interests and a shared playful scientific fascination with the world around us. Losing him is one of the most significant (and crappiest) continuing experiences of my life.

The second stage was when I realized that not only did I not have the time to study aikido, but I couldn't. I don't deal well with the word "can't." I went through a brief, but very intense period of time during which it was very painful even to watch actors in movies doing particularly vigorous things. Thankfully, this passed quickly since I've never been an athlete -- but it burned bright before burning out.

The third stage -- which I feel I'm still in -- came with the news that my oldest brother's aorta was dilated. And I think my feet finally touched the ground again when he left a message on my answering machine that, "The tech said that my aorta is dilated during my echo, and I have a deformed heart valve."

Now, in the grand scheme of things, we've been relatively lucky in that neither of us has required surgery so far, and my father at least lived to be nearly 58, which is old for untreated Marfan. Others have had multiple surgeries, and have lost family or died themselves at less than 30 years old. But adjusting to a family member's Marfan is very different from adjusting to your own, and I think I know a bit more what my mom went through when I was diagnosed.

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