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

Suppose I -- or a child I know -- have it, too.

Again, I will not recommend doctors through this website. I'm not an NMF representative. I'm just your average workaday Jane who has the disorder. If you have any serious questions, contact the National Marfan Foundation and they can help you locate a cardiologist who is familiar with the disorder. If you go to a doctor who is unfamiliar with it or isn't up to speed knowledge-wise, do not allow them to pooh-pooh your concerns. Go to another doctor -- specifically a cardiologist who is familiar with Marfan Syndrome. DO NOT ALLOW YOURSELF TO BE BRUSHED OFF. YOU MAY NOT HAVE THE TIME TO SPARE WAITING PATIENTLY WHILE DOCTOR IGNORAMUS BRINGS THEMSELVES UP TO SPEED. IF YOU SUSPECT THAT YOU OR SOMEONE YOU KNOW IS AFFECTED BY MARFAN SYNDROME, GET AN IMMEDIATE AND INFORMED DIAGNOSIS FROM A CARDIOLOGIST WHO IS FAMILIAR WITH MARFAN SYNDROME. Marfan is all too commonly diagnosed on autopsy; don't let this happen to you or someone you love.

Another important issue is revealed by the genetic nature of the disorder. If a member of your immediate family (anyone you'd share DNA with) has died suddenly of a fishy problem, get an autopsy done. This can be a wrenching decision -- believe me, I know this personally.

I know it's a gutwrenching decision, and the last thing you want to imagine when you lose a loved one is someone somewhere cutting into their body. But sudden young death is not normal, and there are any number of things that can hasten it, and that run in families. Get that autopsy.

It may be that you aren't wondering if you have it, but if your child or a child you know has it. Diagnosing children brings up some issues that are not present when diagnosing adults. Chances are, if you're an adult and have just been diagnosed outside of an ER, you've managed long enough without treatment that you should have a good number of years ahead of you as long as you take care of yourself. But diagnosing kids is a little bit different. Usually children are not diagnosed unless one or both of the following is the case:

1. One of the parents has it so they are looking specifically for signs, or
2. The Marfan is severe enough to be noticeable even before the kid hits puberty and suddenly becomes 6'5" tall.

This means that if your child has just been diagnosed out of the blue, there is a chance that they will have more problems than your average adult who was diagnosed at age 40, whose first question to their doctor after diagnosis was, "What's Marfan Syndrome?"

Still, don't panic. Your child will need to get a raft of tests done, mostly centering on the eyes and the heart (slit-lamp tests for the eyes, and an echocardiogram for the heart), and they will have to cease most athletic activity, including all team sports. Just gather as much information as you can and find a doctor that can work with you, educating you and the child so that you know what to expect. Marfan is nothing to sneeze at, but don't empty the college fund just yet. ;-)

It's also important to realize that your child is going to have to deal with life, and that that involves taking some small risks. Kids need to be kept safe and healthy, but they need to have a life and friends as well. Depending on the severity of your child's Marfan, you'll have to gauge what you need to do to protect them until they can grow old enough to take responsibility for their own health. It's vitally important to distinguish between the following types of situations:

• "No, you can't play basketball because of your Marfan. I'm sorry, but you can't."
• "No, you can't go to college out of state because I might worry about you because of your Marfan."

The first is reasonable. The second is not. Just because your child has a disability doesn't mean they will be (or should be) content to mope around and limit their ambitions like a good little disabled person "should." Protect your kids. Don't hamstring them.

If you have been informed that your child might have Marfan Syndrome, and you do not wish to have them checked for it, you must immediately stop living in denial. You may not want to learn that your child has a potentially serious disorder, and you may think that not learning about it will keep it from happening. You may be fearful of living with the uncertainty of having a disabled child. But -- and I'm not going to sugarcoat this -- that fear of living with a disorder will be nothing compared to the guilt that will follow you to your grave if your child dies of a disorder, and you know that it could have been prevented. Living with a disability is living. If you suspect that your child has Marfan Syndrome, you must have them evaluated. Marfan could kill them. The loss of a child is always a particularly hard thing to deal with, and some parents of kids with Marfan have lost their child to the disorder without even knowing what Marfan was, or that their child had a genetic disorder. Could you imagine how much worse that living hell will be for you if you have been warned, and did nothing?

Am I going to die at 30?

A surprising number of websites are up about Marfan Syndrome, mostly because of Abraham Lincoln and Pharaoh Akenaten, two historical figures that many people believe may have been affected by Marfan Syndrome. In many of these pages, written by people who are not up on the latest advances in medicine, statements like the following may be found: "Marfan Syndrome is a crippling disorder that kills most of those afflicted by it by age 30."

Well. That's cheerful. It's also inaccurate. Before the advent of certain medications and surgical procedures, Marfan Syndrome did indeed cut the human lifespan in half in many instances. It still does for untreated Marfan. But the prescription of beta blockers (medications to slow the heartbeat) and the use of new techniques for aortic and cardiac reconstruction mean that the lifespan for many people affected (not afflicted) by Marfan Syndrome is around 70 nowdays. This means that half of all people with Marfan Syndrome live past the age of 70!

Marfan Syndrome also comes in widely varying degrees of severity. Some people are seriously affected by it and have had multiple surgeries by the time they are 20, or even younger. Others have not, and their Marfan Syndrome means only that they must avoid contact sports, use beta blockers, and get an echocardiogram done every 6 months to monitor the size of their aorta. Some people use canes, walkers, or wheelchairs, others do not. Some have lost their vision partly or totally, others have not. And many people's physical condition declines as they get older, and as their cardiovascular and skeletal systems sustain the stress of more and more years. For example, although I have not had any heart surgery at this point, there is an excellent chance that I will require it in the future as my aorta ages and loses its flexibility.

(It's also hard to predict the future with Marfan Syndrome. I've been left relatively unharmed by it compared to many with the disorder. But that doesn't mean that it can't land me in the emergency room next week, or even tomorrow. When it comes to Marfan, you have to say "not yet" or "so far.")

Get evaluated if you suspect you have it -- seriously, as long as you monitor your condition and are under a doctor's care, you stand every chance of living a very full, active life. It's only when it is not diagnosed that it can kill. It will affect your life, but it need not rule your life.

PPO versus HMO -- which is better?

If your insurance plan is an HMO, you are required to visit a primary care doctor, a generalist, before you can be referred to a specialist. This adds paperwork and headaches, but the upside is that, if you have children, very often your employer will cover them through the HMO without an increase in your premiums, or without premiums at all. If you are in good health, or have kids, this is often your best bet.

The PPO plan sometimes costs a little extra for an individual (at one place of employment where I used to be, it was $37/mo), and can cost even more to cover children -- around $100/mo or more. This added cost can make it very expensive to cover a family, but the advantage of a PPO is that you do not need a referral to visit a specialist. Since I have no kids and do not plan on having any, this means that there was no special paperwork needed for me to visit a cardiologist. Far from the mountain of paperwork needed to visit a primary care doctor, get referred, then request an appointment with a specialist, the only things I had to do were:

1. Find a good cardiologist.
2. Call him.
3. Go.

That was it. With the special concerns of a Marfan patient, including the periodic echocardiogram to check on the heart and aorta, the PPO plan simplifies these visits considerably. It may cost a little extra for an individual, but the freedom from the paperwork required by HMO plans is often more than worth it. The receptionist at my cardiologist's office said to me when I called for an appointment, "Uh, I'm not sure, you'll have to go through a primary care doc--" before I said, "I have the PPO." Her response was, "Oh, okay -- how about 3:30pm on the 22nd of March?"

Basically, what you want is to have as few steps as possible between you and a specialist. And you want to learn as much as you can about your insurance plan NOW. Don't be flipping through forms after you get an enormous bill and aren't sure what to do with it. Sit your HR representative down as soon as possible and make sure you unerstand who you can see, what you'll be expected to pay, what hospital you can go to, what's covered, and what's not.

Children are a separate issue with PPO plans, and in the case of families, the cost may be prohibitive. Single parents may have more of a problem with this, since if you are married, you might be able to get the PPO for yourself and cover your kids through your spouse's insurance.

However, if there is any way for you to get the PPO plan instead of the HMO, I strongly encourage you to do it -- whether you have Marfan, allergies, or any other sort of ailment that requires trips to a specialist. It's worth it, believe me, just for the peace of mind, and it's especially worth it for us, when many MDs are less familiar with our disorder than we are, and hence getting a referral can be like pulling molars.

Top Eight Signs Your Doctor Is Going To Be The Death Of You, Literally

I don't want to be too flip about this, especially given that I've been fortunate enough to find a really great cardiologist -- so good ones are out there, even if they are rarer than they should be.

But still -- Marfan Syndrome is rarer than many other disorders, and a lot of doctors either aren't familiar with it, or aren't willing to be taught by a patient just what's involved. Given that Marfan Syndrome is too often diagnosed by a coroner, this can be fatal.

If you suspect you have Marfan Syndrome, or if you do have Marfan Syndrome, and you've heard anything like the following out of your doctor's mouth, it's a good sign that you need to get another doctor.

I/my friend was misdiagnosed/died/almost died from an aortic event!

Believe me, I've heard it, and I hate it every time. One of the most frustrating things about putting up this website is the heartbreaking stories I get about people who were misdiagnosed by doctors and died, or nearly died. It's appalling. So far, and keep in mind that these are only the instances I can think of off the top of my head, I've heard from:

• A woman who got an aneurysm a week after delivering her daughter. She was sent home from an ER and later dismissed by a supposed "vascular expert." 11 months after her dissection -- and no, that is not a typo -- she got an x-ray for another condition that revealed an enormous aneurysm that was perilously close to bursting. Emergency surgery saved her life.
• The friend of a woman who went to the ER in the middle of a dissection, asking to be admitted. She was sent home even after pleading to be allowed to stay, and died on the way home from the ER in a friend's car.
• A person who was diagnosed by a ER doctor as having "migraine anxiety" and sent home. I don't know of many migraines that result in a foot-long scar on your chest.
• A 23 year old girl who was handed antibiotics when she went into the ER with searing pain in her midsection and was found dead by her mother a few days later.

There have been more. These are only the ones that I can think of easily. If this has happened to a friend or family member of yours or if it nearly happened to you, you might want to consider legal action so that the next person with undiagnosed Marfan Syndrome doesn't have to go through the same thing. While I can't advise you on that (I'm not a lawyer), I can at least direction you to the August 1999 entry in the Marfan in the News section where I mention the settlement that the parents of Tony-award-winning playwright Jonathan Larson won against the hospitals that misdiagnosed their late son. I also encourage you to check with the National Marfan Foundation and see if they have any advice for you, and good luck.

And I must urge you to consider some sort of action even if you or the person in question survived. The same doctor might make the same mistake with a new patient, who might not be lucky enough to survive. If you were misdiagnosed by any doctor, walk up to them and show them your chest scar. Bring an x-ray with you. Don't fear telling them they screwed up; they were supposed to guard your health and life, and they didn't do it. They have gone through worse in medical school, they can tolerate having a patient they misdiagnosed pull up their shirt and go, "SEE?!" at them. You could save the life of the next person in line.

I have mild Marfan -- I should be okay, right?

Well, that depends. Is there such a thing as a mild open heart surgery?

When it comes to a disorder that affects the skeleton, heart, and eyes, there really is no such thing as "mild." Marfan is Marfan. "Mild" means that you might not dissect at age 30, but might hold on for another whopping five years and dissect at 35. Whoopee. Keep in mind that this is a disorder that routinely drops people in their tracks in their mid-20s. Compared to that, four-hour long open-heart surgery that leaves you with more plastic in your heart than you have in your wallet is the mild form.

When you have Marfan, a basic construction component of your body isn't made correctly. Think of your car -- if it's made of weak material, the systems that fail first are going to be the ones that sustain the most mechanical stress, and the ones with the most finicky, tiny moving parts. In a car, that's the suspension, transmission, and maybe the turbocharger, if you have one. Doesn't matter if the tranny gives out at 20K or 30K; you've still got a lemon on your hands. And either way, if you know ahead of time, you can drive more cautiously and gently. Don't use the clutch to stop on a hill, and your car will last longer.

Marfan is the same way. Think about it -- if your body is made of sub-par building materials, the systems that will fail first are, like the car, the ones that sustain the most mechanical stress (heart and skeleton) and the ones with the tiniest moving parts (the eye). And just as with the car, if your heart gives out at 30 instead of 20, you've still got a problem on your hands. You'll have to treat your body gently and take beta blockers.

There just isn't any such thing as a "mild" ailment when three such crucial body systems are involved. "Mild" heart surgery is still heart surgery. "Mild" eye surgery still risks blindness. And -- trust me on this one -- a "mild" orthopedic problem will still send bolts of pain up your head from a pinched nerve, and ortho surgery might as well be carpentry. Take your Marfan seriously. I'm not saying that we're all walking time bombs, and certainly Marfan comes in varying severities. But you do want to remain conscious of it and not blow it off.

"We're going to have a child and I/my spouse has Marfan Syndrome. What are the chances that the infant will inherit it?"

The chances that a child will inherit Marfan Syndrome if one parent has it are 50%, no more no less. It's literally a coin toss. The chances increase to 75% if both parents have Marfan, with a 25% chance that the Marfan may be of a more serious variety.

Why, you ask? It's the nature of the genetics. It's not too hard to understand.

Genes work in pairs -- for example, you get a gene from your mom to determine your blood type, and one from your dad to determine your blood type. Depending on what you get from them and what the rules are for how those genes interact, that determine what your blood type is.

Again, genes work in pairs, and you get one each from each parent. If one parent (PARENT B) does not have Marfan, then both of their copies of C15-FBN1, which they inherited from their parents, are normal. If the other parent (PARENT A) has Marfan, however, they have one good version of C15-FBN1 and one bad one -- one with typos on it. The figure below shows what they could contribute to an infant, and what the result would be:

You can see that two out of four times, the child will not have Marfan; it will always inherit a good copy from the unaffected parent (PARENT B) and stands a 50% chance of inheriting a bad copy from the affected parent (PARENT A). Since you only need one bad copy of the gene to have Marfan, that means that the infant stands a 50% chance of having Marfan Syndrome.

The second figure below shows what could happen if both parents have Marfan. One out of four times, the child will get the good gene from both parents. Half of the time (two out of four) the child will get a good gene and a bad gene, and have Marfan. And one out of four times, the child will inherit a bad gene from both parents, and stand a chances of a more severe form of Marfan.

In summary, if one parent is affected, a child stands a 50% chance -- an even tossup -- of having Marfan. If both parents are affected, the child stands a 25% chance of not having Marfan Syndrome, a 50% of having "garden variety" Marfan, and a 25% chance of having not only Marfan, but a more severe form.

"Neither I nor my spouse have Marfan, but our child has just been diagnosed with it. What could I have done?"

When any parent learns that there is something amiss medically with their child, the first thing they will ask themselves is usually, "Was it anything I did?" It's natural, and in this case, it's very important to realize that you did nothing wrong.

It wasn't that glass of white wine you had before you found out you were pregnant, it wasn't because you played a game of touch football when you were in your fourth month, it wasn't because you were fifteen years older than your wife. It wasn't any of that.

The fact is that reproduction is not a trivial thing. Creating a human being out of two tiny little cells that come together, each with only half of the instructions, is an enormously complex process. It's amazing that it happens at all, really. Things can go wrong just out of random chance.

Also, consider that if DNA mutations didn't occur, we would still be australopithecine apes trying to outrace antelopes on the savannah and being occasionally eaten by leopards. The process of mutation by which changes are introduced into our DNA at random is the whole process of life. It's the means by which entire species develop. It's the whole mechanism behind the diversity of life, and there is simply no stopping it. Mutations happen. It's the basic process of life that has been operating for eons, literally. Some mutations do nothing, some very few others move the species in a positive direction -- making us darker or lighter to protect us from the sun or allow us to live in cold climates, for example.

And some mutations do bad things. It's random chance, and unfortunately it landed on you and your family. But we are talking about a mechanism that has been operating quite literally since the dawn of life on Earth. That is most definitely not something you can take any blame for whatsoever, and it's not something that one little person can stop or avert.

So go easy on yourself. You've got a lot of stuff to learn and prepare for if you have a child with Marfan, but at the very least, I can assure you that it was not in any way, shape, or form your fault. There was nothing you could have done. The process of evolution is much bigger and older than you -- don't go blaming yourself because tiny, little you couldn't stop this process that's been working for millions of years.

What have you done about it?

The absolute first thing that you must do right now, you click on this link right now or else I'll pop you one, is sign up with MedicAlert to get yourself some tags identifying you as having Marfan Syndrome. The worst symptom of Marfan Syndrome, the ruptured aorta, is absolutely fatal without immediate surgery; any delay in recognizing the symptom for what it is can cost a patient their life. And many emergency room paramedics are not familiar with what is admittedly a rare condition; if you have Marfan Syndrome, you have far more knowledge probably than the people who will be treating you in those first few minutes. The MedicAlert tags can identify you as having Marfan Syndrome, along with two other lines of information, and the service provides a 24-hour phone number for paramedics to call to get information about your medical history. Getting MedicAlert tags should quite literally be the first thing you do when you get home from a positive evaluation by a specialist. Call 1-800-825-3785 to register; the service costs $35/yr.

Once you are evaluated, your doctor may do any number of things. He or she may prescribe beta blockers for you -- these are drugs which lower your blood pressure and heart rate in order to lessen the stress on your aorta and prevent rupture. Be aware that too high of a dose can sort of dope you out. If you feel dopey while on your beta blockers, tell your doctor, and he or she can lower your dosage to where it can leave you unaffected but still protected, or try a medication that doesn't make you wonky.

Beta Blockers

On the whole, beta blockers are fairly well-understood medications and are prescribed all the time for high blood pressure. My mother takes them, and suffers no ill effects. They are often best taken with orange juice, which disgusts me, but oh, well -- and it's often recommended that you take something with potassium in it as well. Don't take supplements, that's a bad idea. Eat a banana (if you can choke one of the foul things down). If like me, you despise the things, stick one in a blender with some ice cream and a little chocolate sauce and make yourself a nice shake. For a more healthful alternative, get a banana and some frozen strawberries and blend them up with some ice cubes to make a smoothie.

Okay, that answers how to take them. But why? Why do Marfan patients need them? And what do they do?

In Marfan Syndrome, the heart valves are not ideal, and the aorta is less flexible than normal. These problems force the heart to beat harder and faster to compensate -- which stress the valves more, which make the heart beat faster, etc. It's a vicious cycle. Since the heart is mechanically non-ideal, it tries to overwork itself to compensate. Therefore, it must be artificially slowed down to keep this vicious cycle from starting, or else it can effectively suffer a lifetime's worth of heart activity and wear and tear in only 40 or so years, as happened to my father. The beta blockers help to ameliorate this.

There are several different kinds of beta blockers, and the following table will help you understand what each one does.

It's important to realize that when you first begin taking beta blockers, you will be tired for a bit as your body adjusts to a more normal heart rate, considerably slower and less forceful than what it's been used to up until now. You may tire more easily for the first month or so, and I've found that my hands tend to be cold as well. In my case, the tiredness wasn't anything I couldn't shrug off or work past. These symptoms typically go away after a month or two. Your doctor may want to start you out on a lower dose and increase it as he or she wishes, as opposed to starting you out on too high a dose, which may make you feel dopey or slow. Make sure to tell your doctor how you're doing, and always take the pills. Don't skip a dose. If you miss one, take it as soon as you realize it, but don't take two at once to make up for a skipped dose.

Once you're on the beta blockers, do not stop taking them. You could experience a rebound whereby your heart rate and blood pressure skyrocket in reaction to the sudden absence of the medication. This could be disastrous. If you do need to be taken off your beta blockers, your doctor will do it gradually by weaning you off of them. This sort of medication should only be halted under a doctor's supervision.

And make sure that you research any herbal/prescription interactions before you take herbal supplements. Many of these interact in dangerous ways with prescription medications, exaggerating or nullifying their effectiveness, or creating unpleasant side effects. Check out the Natural Medicines comprehensive Database to learn more, and make sure that your doctor knows about the herbals that you take, if any.

Many people believe or have heard that beta blockers cause sexual dysfunction (the inability to maintain an erection or decreased libido). This is more the case with non-cardioselective beta blockers and not the cardioselective ones that would be prescribed for Marfan Syndrome. If you are concerned about sexual side effects, and this concern is keeping you from taking beta blockers for hypertension or Marfan Syndrome, see your doctor, and let him or her know that you have concerns about sexual function.

More information about beta blockers can be found at HeartInfo and Marshall Univ. School of Medicine.

Anticoagulants (for people who have mechanical heart implants)

For anyone who has had a heart valve replaced, not just Marfan patients, anticoagulants are often part of their lives. What are they? In order to understand that, we've got to understand how the blood works.

In the section of this site that looked at the heart, we learned that the blood does a bunch of stuff -- exchanges oxygen for carbon dioxide, exchanges nutrients for waste products, and delivers white blood cells to infected areas. Well, there's one more thing it does -- it plugs holes, or forms clots.

When you cut your finger, even smoothly like a paper cut, the edges of the hole are actually very jagged and uneven microscopically. Your blood will start to leak out through the hole when you bleed -- but unless you have certain blood disorders, it'll stop eventually. This is because the blood naturally forms clots, just rough globs, around what it recognizes as unnatural jagged edges. These clots gum up the hole and prevent any more blood from leaking out, and then your body takes over and creates new skin to seal it up.

So your blood forms clots on unnaturally uneven surfaces, and it's a good thing it does, or else we'd bleed to death from a scratch. The interior of your blood vessels and heart is covered with a layer of what are called "epithelial cells," sort of like Teflon for your cardiovascular system. It provides a nice natural smooth surface for your blood to flow past, and your blood won't clot on it. That's why your blood doesn't just spontaneously clot up inside of you.

(Picture taken from here.)

Put something unnatural in there though, and clots are a definite possibility. A mechanical heart valve may look smooth to the eye and feel smooth to the touch, but under a microscope you can see jutting edges and burrs that would look like a mountain to something as small as a blood cell. So your blood will want to stick to these places, believing them to be jagged edges that have to be sealed up.

Of course, they aren't really, so the clots just keep building up until they get too big and break off . . . and go someplace else and block the normal flow of blood, causing injury. It's like a lump of hair and gunk in your sink trap that breaks loose and flows downstream until the pipe narrows to the point where it gets stuck and blocks the plumbing.

One of the most significant dangers about blood clots that exit the heart is the possibility of a stroke -- which is what you call a blood flow blockage in the brain. The first major organ that your blood enters after exiting your heart is your brain. So, if a clot forms in the left side of your heart, it's very likely to head to your brain first, which is a Bad Thing. And the heart valves on the left side are the ones that are most often replaced with mechanical analogues. (Blood clots that form on the right side end up in the lungs, which is definitely a serious problem, but not as crucial as one that can cripple your brain.)

So how do you avoid having blood clots form? Blood does that naturally, and at this point in time, we can't create artificial heart valves that are smooth enough to keep clots from forming on them. The only way to avoid blood clots at this point once you have a mechanical heart valve implanted is to take special medications called anticoagulants, most often Coumadin, Heparin, or Warfarin. These medications prevent your blood's natural clotting process from occurring.

And to anticipate your next question, yes -- this does interfere with the natural process of clotting that you want to take place if you should cut yourself. For this reason, people who take anticoagulants do have to be more careful, and taking the medications themselves is definitely more involved than taking beta blockers, where you just pop the pill and have done with it. People who are on anticoagulants often must monitor their blood clotting time similar to a diabetic monitoring their blood sugar. And while people who are on anticoagulants don't need to control their diet nearly so tightly as a diabetic, they definitely must be aware of what they eat.

The reason for this is simple -- many food items contain varied amounts of Vitamin K, and this is a vitamin that your body particularly uses to help your blood clot well. Dark green vegetables are often high in K, and eating them can increase your blood's clotting ability, which would change the effectiveness of the anticoagulants. Other foods, such as red wine, thin the blood and make it clot less well -- and taking anticoagulants in that case could cause problems since the blood could be too thin.

Healthy balance is the order of the day with anticoagulants. You must be more aware of what you're eating -- but you don't need to be ruled by it. What you want to do is not so much avoid all foods that affect your blood's clotting, but balance them. You want to try a spinach pastry? Drink some red wine along with it. What's needed is for you to be aware of how much Vitamin K or red wine you're taking in, so that your medication can account for it -- and you must be aware of your clotting time.

You should also be careful with herbal supplements when taking Coumadin. For example, gingko biloba taken together with Coumadin can cause spontaneous bleeding. You can learn more about herbal/prescription interactions at the Natural Medicines Comprehensive Database. In general, don't mess with herbals when you're on something as heavy as a blood-thinner without doing serious research about interactions, and follow your doctor's recommendations.

It's also important to realize that many heart surgeries do not require that you remain on anticoagulants for the rest of your life. If you have a mechanical valve implant, yes -- you will be taking the medications permanently. But if you have only some of your aorta replaced in a valve-sparing procedure, you need only take them until your body grows a covering of epithelial cells in the interior of the replacement aorta, like an oyster covering its inside shell with mother-of-pearl. (This usually takes a few months, and the process is called epithelialization.) If you have a porcine valve implant (a pig heart valve) or a homograft (a donor valve from a dead human), you will not need to remain on anticoagulants since the surfaces of nature, unlike those that are manufactured, are smooth enough to prevent clotting. Unlike a smooth tube of dacron that is used to replace the aorta or valve replacements that come from living organisms, the hard surfaces of a mechanical heart valve are always in motion, clicking open and shut, and they are also rougher than the interior of the dacron tube. As a result, the surfaces of a mechanical heart valve will not epithelialize.

Pig valves and homografts, however, usually wear out after about ten years or so (they are after all, dead tissue and not living tissue since they came from a pig or human cadaver), and are normally replaced after about a decade of use.

Anticoagulants also affect how you are handled prior to surgery as well, since you are going to be cut open. Although this is definitely a concern, it's one that surgeons have dealt with for a long time now, so it's not like surgery while on anticoagulants is something that doctors can't deal with. Pregnancy while on anticoagulants is also another complicated issue since some bleeding is to be anticipated during delivery, and since you have to be aware of the possibility of drugs crossing the placenta and entering the fetus.

And new techniques are being developed to prevent the need for mechanical heart valve implants altogether. The first aortic valve replacement was in 1960, by Dr. Dwight Harken. The first mitral valve replacement was shortly after that by Dr. Nina Braunwald. Today, techniques that are under development include growing new valves from your own DNA! Now, when you have Marfan, these spiffy grown valves aren't going to be top notch to start with -- but combined with gene therapy to replace the typo in the relevent section of DNA, a new and healthy heart valve can be grown from your own DNA. It would not have to be replaced later since it would be made of living tissue and not cadaver tissue, and there would be no risk of rejection! It's one more reason to take your beta blockers and moderate your physical activity, because the longer you can stave off the need for a heart valve replacement, the more chance that options like these will be present for you when you are older.

More information about anticoagulants can be found at HeartInfo.

Sports and Lifestyle

Another thing that you'll want to do is avoid contact sports (just about all team sports, unfortunately, including basketball). Anything where you might hit the ground, floor, wall, or another person with some force counts as a contact sport and can cause heart problems, or a detached retina. Many of us are incredibly unathletic anyhow so that's not much of a sacrifice (damn, there goes my guest spot on American Gladiators), but some are, and this can present difficulty.

It is especially important in sports like basketball and volleyball, where a long reach and height are seen as assets. Many young people with Marfan Syndrome are naturally attracted to these sports -- both of which are out of the question for us, unfortunately. Competitive endeavors like riflery and archery, as well as walking and moderate swimming and cycling should be all right, but definitely check with your doctor, and when in doubt, don't push it. In summary, there are plenty of things you can do to let your competitive spirit out for a roar that won't stress your aorta -- I'm a prime example. Although I have Marfan Syndrome, I've also got an instinctive need to butt heads, and I love target shooting (I'm 20/20 with corrective lenses), and pool.

Keeping your teeth in good shape

This is usually surprising to most people, but the health of your heart depends on the health of your teeth, much more than you'd think. You've heard of plaque, both on your teeth, and in your arteries -- and there's a reason why it's called by the same name. It's the same stuff, believe it or not.

When I was a kid, dentists worked barehanded. If you're as old as I am or older, you may remember this yourself and even remember, as I do, when dentists started wearing rubber gloves. The gloves came out at about the same time as the news broke about Barney Clark, the world's first artificial heart recipient. He had been ill from heart problems for years, had suffered several heart attacks, and his heart was enlarged to a frightening size to compensate for the fact that most of it was composed of scar tissue, incapable of pumping as it should.

And Barney Clark had been a dentist for years. Dentists routinely have more severe heart problems than any other medical profession. Those many, long years of putting their bare hands in people's mouths make it highly likely that they'll catch bacteria that go into their bloodstreams -- the same bacteria that create the plaque on the teeth of their patients. And that bacteria is very antagonistic towards the heart.

This is why people with heart problems (including those affected by Marfan Syndrome) must take antibiotics before having major dental work done. The bacteria that resides on the surface of your teeth, the same bacteria that transform food particles into that hard yellowish crap that has to be scraped off, could do damage to your heart if they get into your bloodstream and find their way there. They can attack the heart valves, and they can cause plaque to build up in your blood vessels the same way they cause it to build up on your teeth.

And if your gums bleed routinely, say when you're brushing your teeth, that means that that bacteria in your mouth has plenty of opportunity every minute of every day of your life, to get into your bloodstream, find its way to your heart, and start some mischief.

What does this mean? Take care of your teeth! Brush after each meal, floss, and get your three month cleaning religiously. Your heart will thank you for it. It's not quite "FLOSS OR DIE!" but it's not too far off.

Alternative Medicine and Marfan Syndrome

There's a lot of dissatisfaction with Western medicine lately, because of a variety of things. Add together the lack of bedside manner or empathy of many doctors, the spiralling costs of health care, the sometimes arbitrary coldness of many insurance companies, and the persistence of many illnesses like cancer in the face of technology, and you wind up with a general grumpy dislike of medicine and health care professionals. That's probably been the biggest pain the backside for me so far regards my own Marfan Syndrome -- I know a lot more about insurance than any of my able-bodied friends, because I need to understand the piddly irritating details before an emergency situation rears its ugly head.

And many of us with Marfan Syndrome have had, shall I say, less-than-wonderful experiences with Western doctors dismissing us, patronizing us, or merely round-filing us as hypochondriacs. But when you stop to consider that the lifespan for people with Marfan Syndrome has almost doubled in a little over ten years thanks to the efforts of Western doctors, you realize that as least where some things are concerned, Western medicine seems to be pretty well on the ball. Western medicine and doctors are at their best when something definitive is "wrong" or "broken," and in emergency situations. Where Western medicine stumbles is dealing with chronic conditions, many without a clear cause. Back pain. Diabetes. That sort of thing.

Be that as it may, many people are seeking alternatives, from crystal healing to acupuncture to nutritional analysis. The major problem that I see with this is that a lot of people are lumping everything that is not traditional Western medicine together and putting them all on the same level, from crystal healing (which to my mind has absolutely no merit whatsoever aside from the understandably pleasant nature of lying in a quiet room with pretty music playing and no scalpels in sight), to acupuncture (which appears to have serious merit), to good nutrition (which should make good sense to anyone). It's important not to ashcan Western medicine entirely, nor to fall whole-hog for anything that smacks of alternative medicine. Simply because a type of medicine is done by people who are not ethnic Westerners doesn't mean that it's New Age mysticism or something outside of the realm of Western science.

And it's also important to keep in mind that "herbal" doesn't always mean "no side effects." Many "herbal supplements" are indeed drugs and may have a profound effect on you. Just because something doesn't have a long, tongue twisting chemical name doesn't mean it won't have an effect on your body. For example, the popular dietary supplement Metabolife contains ephedrine, a neurotransmitter the purpose of which is speeding up your heart -- precisely the stuff that your beta blockers are supposed to work against! Chewing willow bark helps with headaches because it contains some of the same chemicals as aspirin. And many herbs and plants will out-and-out kill you. If it's going to affect your body, it's important to approach it with care and even skepticism, whether you're talking about native American herbs or something from your local pharmacist.

Also, if you are interested in pursuing alternative medical treatments, please keep going to a Western doctor as well. The AMA might be "officially" uninterested in alternative medicine, but many doctors don't share that lack of interest. Most doctors are curious themselves about alternative treatments and would certainly be interested if you discover that a certain acupuncturist has given you relief from your back pain. And there are many symptoms of Marfan Syndrome (such as the dilated aorta) that so far only Western medicine can deal with properly.

Alternative treatments that I would recommend for people with Marfan include the following:

• Acupuncture: Whatever "chi" energy is, this really does seem to help with joint and back pain for a lot of people. Definitely check it out. Make sure you find someone with good references. Effective as acupuncture is, it does seem to attract more than its fair share of New Age airheads. But a good one can be worth their weight in gold.
• Proper Nutrition: It's silly to include this in a list of "alternatives," since good eating is basic to good health by any standard. But many people with Marfan have calcium deficiency and osteoporosis, and hence we should make a point of getting calcium in our diets. Be aware, though -- we may also have a problem absorbing it in general, and hence eating it might not do us any good, not matter how many supplements we take. The jury's still out on this one.
• Massage: I still remember going to a chiropractor for a massage in Santa Barbara, when my neck was wrenched and my head had been throbbing for days. I got up off that table with no headache at all, and no pain in my neck. It was astonishing, and man did it feel good. Make sure that if you go the full route to chiropractic adjustment that you find a good chiropractor who is familiar with Marfan Syndrome! A bad one can f*ck you up six ways from Sunday, particularly if he or she doesn't know the problems that arise when dealing with Marfan joints. I once went to a chiropractor in San Diego who had never heard of Marfan Syndrome who promptly did a very forceful and sudden "adjustment" to my sternum that left me gasping. If my aorta had been at risk for rupture, it probably would have done so right on the table.

Alternative treatments that I don't feel can stand on their own without the added intervention of Western medicine (and please be aware that this is only my opinion) include the following. If you pursue any of these avenues, please keep seeing a modern doctor in the meantime. And get an echocardiogram.

• Crystal Healing: The only benefit from this comes from lying in a quiet room with pretty stones around you and nice music playing. Now, that's not to be sneezed at, but you can get the same thing from going to the symphony and the natural history museum.
• Reiki and other supposed "energy" or "aura" adjustments: Again, it's pleasant to the senses, but that isn't enough, or else a good plate of homemade lasagne and a half-dozen cannoli could cure you.
• Hard-core nutritional analysis: You know, you can eat as much raw foods or protein as you want, but if your DNA is loused up, your body still isn't going to be able to make fibrillin properly. Again, good nutrition can certainly improve anyone's health, but it will not cure you.

Keep in mind that I'm not saying that these therapies can't have value, just that they aren't going to replace Western medicine any time soon. Just as I am not about to substitute Reiki for taking my beta blockers, I wouldn't want to live a life without lasagne and cannoli either. :-) I don't think that any of the above treatments have any real medical merit, but if they relax you and you enjoy them, hell -- that counts, too. Just don't substitute them for traditional medicine.

And unfortunately, there are a lot of "snake oil" quack medications being touted to "repair" DNA and "correct" mutations. They are, without exception, garbage. "Repairing" and "correcting" DNA is the sort of thing that is done with heavy-duty, extremely complex gene therapy in hospitals with mountains of insurance paperwork and an army of doctors and nurses in attendance. Any little bottle of liquid that promises to repair your DNA is a scam, I can promise you. Hospitals are scary and expensive, medical insurance is frightening, and far too many doctors can have appalling bedside manners, but please don't allow your very understandable fears of all that leave you open to being preyed upon by quacks out to make a quick buck.

And if you feel motivated to write to me and tell me how offended you are that your snake oil has been insulted, and that your quack bottle of tap water can repair my DNA, be prepared for a cold reception. Your little bottles of snake oil kill people by preventing them from getting the legitimate medical treatment that they need. I can only wonder how you can live with your conscience knowing that you are causing people who are at risk for sudden and unanticipated death to forsake treatments that could save their lives in order to fatten your bank account, all for the sake of a little bottle of perfumed tap water with a lump of quartz in it and a picture of a flower and a dolphin on the label.

Behavior Restrictions -- what not to do

There are a number of things that aren't a good idea for people with Marfan. If you have just found out about your own Marfan or that of a friend or child, then please keep these general guidelines in mind. If you suspect that you have Marfan but aren't sure, hold off on doing any of the things listed below until you find out for sure.

1. Sports. Hate to say it -- that's got to go. Any intense and demanding activity that involves the risk that you could fall, hit something or someone, or sustain a blow to your head must be ceased immediately. This is for a variety of reasons:
   • Blows to the body can injure joints that are too loose or could result in a ruptured aorta. The first will end your sports career anyhow, and the second could kill you. Don't risk it.
   • Elevated heart rate and blood pressure period is just a bad idea for us. Our hearts are not really up for having such demands put on them, and our aortas are fragile enough that the increased blood pressure could either cause a rupture, or else cause it to dilate, which would shorten its working lifespan -- and ours.
   • Blows to the head can cause the lenses of the eyes or the retinas to detach. Although medical science can deal with these problem somewhat, don't kid yourself. You risk major eye surgery and blindness.
   This includes all team sports, aerobics, martial arts, weight training, running, jogging, rock climbing, intense cycling, etc. It's all got to go. Yes, I know, it sucks.
2. Flying in unpressurized aircraft or scuba diving. This has got to go as well. Both our lung tissue and the stuff that holds our lungs tight against our chest wall is weaker than normal. This means that we run a higher than normal risk of spontaneous pneumothorax, or what's commonly called a collapsed lung. When we breathe, our lungs have to be able to expand freely in our chests. This means that they have to be both airtight (to prevent the air from leaking out and into the chest cavity around the lungs) and fastened well to the chest wall. If either of these things is compromised, the lungs could be prevented from expanding as they should -- and if it happens to you, you'll know it. Pneumothorax will land you in the ER. I have no idea how this impacts things like hang gliding or skydiving, so I can't tell you anything about that. I'd imagine that the risk of going whump! into the ground upon landing would be enough to warn anyone with Marfan away from those activities.
3. Smoking. Don't. Just don't. Yeah, yeah, "The Surgeon General has determined, blah blah blah, yadda yadda . . . " Seriously. Smoking is bad news for anyone, but it can be especially catastrophic for us, given that our hearts aren't in as good shape, and our lung tissue isn't as elastic as it should be. If you smoke, look into those nicotine patch things and see if you can't get yourself off the cigarettes. Even if you keep using the patches in place of the cigs, that's still much better for you than smoking.
4. Caffeine or other stimulants. Out the window with them. And when I say "other stimulants," I'm including all drugs, legal and otherwise. I don't do them (and sometimes I feel like the only person in North America who doesn't) but I know that people sometimes do -- and one little line at a frat party can kill you. This isn't some smarmy "Just Say No" line thrown at you -- I'm not an anti-drug crusader. But anything that will revv up your heart beyond what it should is just not an option for us. Drink decaf, and stay away from stimulants. Even the relatively easygoing marijuana cause elevated heart rate when you first take a puff off of it. And there are many other "natural" drugs that accelerate the heart rate; for example, the popular Metabolife supplements contain ephedrine, which is specifically targetted to speed up your heart. Taking that stuff with Marfan is begging for disaster.
5. Crappy junk food. Given that we're already deluged with information about this, one more line will seem like a drop in the ocean. but seriously -- cut out the salty fatty junk. Give your heart a break; the poor thing's already making do with substandard parts.

Jeez, that's almost everything, isn't it? Unfortunately, yes. But things like moderate walking, swimming, and cycling should be manageable. Check with your doctor first! I'm not recommending anything here, and Marfan Syndrome is varied enough that you absolutely must check with your doctor before embarking on anything.

If you are wondering what options are left for people with Marfan, either for yourself or a child who suddenly has been yanked out of gym class, the absolute best option whatsoever is music. There are a huge number of musicians among those of us with Marfan, particularly pianists. It's an ideal discipline. It is not as physically demanding as sport (although one run-through of a good Joplin rag will nonetheless leave you out of breath), and the disadvantages of Marfan Syndrome -- loose joints and long limbs -- are distinct advantages in music. I can reach well over an octave without any problems. I've known many professional pianists who simply can't play Chopin and Joplin because of the physical limitations of their hands. I have no such limitations.

Music can also be a good team or school endeavor through band or symphony, so it's not like extracurricular or even sports-related activies have to be cut out entirely if you or your child has just been diagnosed with Marfan. Seriously -- look into music. It's demanding, challenging, fun, something you can do in groups, and our hands are just tailor-made for it.

Clothing -- or, "I'll just pretend they're capri pants."

We've all gone through it. Someone buys us a pair of gloves and we can't even open our hands when we put them on. We have a job interview coming up and would like to find a nice dress blouse, but all the ones we find in the stores come about three inches shy of our wrists, and we look like knuckle-draggers. We try to get a pair of jeans, and we either have to play at pretending they're pedal-pushers, or else the drop is so short that we're on tiptoe in bare feet.

Oh, you could buy a larger pair of pants that are long enough for you -- but you'd better wear suspenders with them or else they'll be down around your ankles the second you stand up.

And men have the same problems -- dress blazers that look like they are three sizes too small, pants that look like you're waiting for a flood, and drop lengths that have them singing soprano.

Where do you get decent clothing that fits well, doesn't bunch or ride up, and doesn't make you look like you had to rummage through the remainder bin? It's easier than you think on-line. The following stores are either specially targetted at the taller crowd, or else they stock tall sizes.

• Tall Paul's Tall Mall -- lots of stuff here, not just clothing. Seating and bed adjusters are included, along with gloves, and an Adirondack chair specially built for the tall customer. Mention the NMF in your order, and part of the price will be donated to the NMF!
• Land's End -- I never had a long sleeved turtleneck that fit until I bought four of them from this place. They fit like they were made for me. It's wonderful! They stock tall sizes in damned near everything they have.
• Long Elegant Legs -- created and owned by a woman who was also frustrated at the lack of decent clothing out there for tall women. Pants, tops, and lots of other stuff -- really nice, and reasonably priced. They even stock bodysuits! When was the last time we could wear one of those?
• Tall Classics -- has online ordering as well, with a secure server.
• The Big Page -- clothes for big and tall men. You know, I love the way women's sites make up euphemisms for ourselves (long and elegant, grand and glorious), and the guys just say "big and tall."
• Men of Measure -- more big and tall men's clothes.

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