[Janis Cortese]

[Welsh Resources]
 [Fire Horses]
 [Janis Cortese: Resume]
 [Lefthandedness]
 [Handcrafts]
 [Very Long Hair]
 [Marfan Syndrome]
 [Firearms and Self-Defense]
Marfan Syndrome: Life and Issues
* * * * *

  1. What is Marfan Syndrome? -- a big pain in the ass. Okay, aside from that . . .
  2. How did you learn that you had it?
  3. What if I think I (or a child I know) have it?
  4. What have you done about it?
  5. So has this really affected your life?
  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
  10. Where to learn more -- web sites and mailing lists

So has it really changed your life?

Aside from never being able to find a goddamned store-bought shirt with long enough sleeves, not yet -- although I am finding it annoying to realize that not only shouldn't I study things like rock-climbing or aikido, but I can't. I've never been an athlete, but there is a difference between choosing that you don't have the time or inclination to do something, and being told that you can't. At times, watching athletes or actors doing particularly vigorous things can bother me since, for example, my decision not to study aikido is no longer my free choice, but has been made for me, and I truly do wish very much that I could do many of those things. That can be very difficult to adjust to, and I am still learning. That's part of the psychological adjustment that comes with a chronic disability, I suppose, and having most people assume that I can't because I'm a "girl" doesn't help. But my behavior has not altered measurably.

Marfan Syndrome often comes in degrees. (There are many, many documented mutations of Chromosome 15 that lead to Marfan Syndrome, and the effects each bring about are not of identical severity.) There are people who are affected by it who have had multiple heart and eye surgeries by the time they are 15, and there are people like me, who know only that we tend to be tall and thin, have bad knees and a bad back, and have a fast heart rate. For some people with Marfan Syndrome, their lives are dictated by it from a very young age. But for others, it means exercising more moderately and taking beta blockers once a day until age reduces the flexibility of the heart valves or the aorta, upon which point surgery is performed. Marfan may leave a young child legally blind and requiring orthopedic braces to walk, or it may only be found in a 50 year old adult in a routine physical, who never suspected a problem before. It's very individual -- many people who read this site have worse problems, some don't have as many. My own history can't be taken as too much of an indicator of what yours or your child's could be -- but be that as it may, don't panic. Things are definitely improving for people affected by Marfan Syndrome.

So since I am one of the mild cases, I don't consider that my life has been altered in a big way by it. I've always eaten a heart-smart diet just out of preference (trans.: I've never liked salt or red meat at all before, so I don't miss them now), and it was actually nice to know that there is one root cause to all the annoying orthopedic problems that I've always had to put up with. Instead of having bad knees, a bad back, a clicking jaw, and a racing heart, it's only one problem -- Marfan.

As I age, no doubt more problems will make themselves evident. And I must admit, many with Marfan Syndrome are not as fortunate as I.

[Back To Top]
* * * * *

So wow, you're disabled?

Not in a traditional movie-of-the-week sense, no, I'm not. I have to take beta blockers, and moderate my physical activity, but that's about it. If you were to see me on the street, you would say nothing other than, "My, she's rather tall," and perhaps note that I'm a bit gangly and sharp-faced. Prior to my getting high-index plastic lenses in my glasses, you would also have noticed some way thick Coke bottle glasses on my nose.

There are people who have Marfan Syndrome who are much worse off -- people who have had dissections at age 15, who have a distinctly concave sternum (breastbone) and hence a very hollow chest, or who have had multiple heart, orthopedic, or eye surgeries. I am not one of them -- again, Marfan is a disorder that comes in varying degrees. I don't want people thinking that having a lousy copy of Chromosome 15 or having a *S*Y*N*D*R*O*M*E* with a name means more than it does. Anyone with a disability, no matter how severe, is not someone who is a walking medical issue, they are not a movie-of-the-week heroine or hero, and in almost all cases, their disability is not the most significant thing about them. I'm not "suffering from" Marfan, I'm not "afflicted" with Marfan, I'm not "crippled" by Marfan, I'm not a "victim" of Marfan, or any other telethon poster-child terms like that. I'm affected by Marfan.

If you asked me what mattered about myself, I'd tell you that I am a bit of a hothead (well okay, more than a bit), technically adept, artistic, love to take things apart, love teaching and explaining things to people, am crazy about handcrafts, love my cats, am a compulsive reader, have an independent streak a mile wide, am ambitious, and like to save money. I'd run through a long, long list of qualities that I possess before I ever thought to say that I also have Marfan Syndrome.

That's not to say that Marfan hasn't had an impact on my life, though. Pinched nerves, back pain, headaches, heart palps, and medication will have an effect on your life and your outlook from time to time -- particularly chronic pain, which is a little world all its own. It's important to realize that dealing with chronic pain can be very draining. If a person needs to decompress or feels down, that doesn't mean they aren't strong. If a person looks okay and is coping, it doesn't mean they aren't in pain. Frequently, able-bodied people have a problem understanding this -- "Don't let it get to you," isn't reasonable when you live with it every second of every day of your life. Sometimes, you do have to let your hair down and let yourself get angry or down about it. Then, you get it behind you, and move on. "Don't let it get to you," means, "Don't let it keep you from living an accomplished and ambitious life," not, "Don't ever reveal the slightest trace of pain, sadness, or annoyance for even one second."

[Back To Top]
* * * * *

Are other things like depression or learning disabilities associated with Marfan Syndrome?

As happens with almost every genetic disorder, people are generally curious about whether or not learning or emotional impairment comes along for the ride with Marfan Syndrome. We understand more about how our genes impact the development of our bodies, but we're still in the dark about how they impact the development of our personalities and intellects, so we're curious.

We're also prone to jump to conclusions, and perhaps believe things before they've actually been demonstrated. "In the absence of evidence to the contrary, we can believe that people with genetic disorders are also learning- or emotionally-disabled as well." While our genes probably do have a significant impact on our minds and emotional well-being, it's premature to assume that this is the case with something as well-pinpointed as Marfan Syndrome. Before such a conclusion can be treated as true, it needs to be medically proven. And, whether for good or ill, there has been no illustrated link between any sort of learning or emotional disability and Marfan Syndrome.

It's also important to realize that, while people with a genetic disability have proof that at least one gene has affected them, every single human being alive or dead has also been affected by their genes, and who knows how their personalities were shaped by them. People with Marfan have genes that have had definitive effects on us, but so has everyone else. To look at it another way -- yes, my C15 might have affected my personality. But who knows how the gene for blue eyes might affect someone? How about the gene for freckles? If one gene can be assumed to be connected to bad qualities, what's to say others aren't as well? Maybe people with shoulder length curly hair who bite their nails a lot are predisposed to axe murder.

And when it comes to genes that hurt society, I can guarantee you that I'd be much more interested in wiping out whatever genetic abnormality makes some people play their goddamned music at hurricane volumes at 10:30pm on a Sunday night, even if those particular genes don't have any other salient effects on their bodies. Forget about the Marfan gene; what about eradicating:

  • the Passive-Aggressive Weasel gene?
  • The Wife Beater gene?
  • The Treats Minorities Like Garbage gene?
  • The Lies Like A Cheap Toupee gene?
  • The Drinks Too Much gene?
  • The Petty Dictator gene?

I can guarantee you they impair human society a lot more than the Marfan gene.

Although no demonstrable link between learning or emotional disabilities and Marfan Syndrome has been shown to exist, what has been demonstrated is that, for children who have Marfan, sitting in uncomfortable school desks that are not suited to our physical problems can result in fidgeting and inattention -- which can seem like Attention Deficit Disorder. For patients who have to struggle against their insurance companies to avoid being thrown into debt for the rest of their lives (I know one woman who is in debt for $90,000), depression is a normal outcome -- just as it would be for anyone who is going through a divorce or bankruptcy, which are not medical conditions.

Marfan for the most part is structural, and while many things still need to be learned about it, it's important to wait until evidence has shown a link between it and anything else. And the same could be said of anything in life: Assume too much, and you make an ASS out of U and ME. The reasons why people might link other problems with Marfan are easy to understand, though.

For most people, who do not understand the cause of Marfan Syndrome, they may be prepared to believe anything about it. They may jump to conclusions about the nature of the disorder, or believe that it is caused by something that is unrelated to it. I once had the unpleasant experience of watching this very process at work once while I was watching C-SPAN (yes, I'm a C-SPAN geek, I confess). They were airing a discussion panel by a bunch of psychiatrists on disability and the American presidency: what constitutes a disability that can interfere with job performance, who was disabled, who hid it and who was open about it . . . that sort of thing. I was interested because of the association of Abraham Lincoln with Marfan Syndrome, so I settled down to watch.

The only time that Lincoln was mentioned was when a bunch of psychiatrists -- people with Ph. D.'s and medical degrees, mind you! -- leaped madly to the wrong conclusion that Marfan, since it results in excessive height, was a hormonal imbalance and hence "probably" resulted in emotional problems as well. Completely wrong -- and not one of these medical doctors thought to stop themselves en route to the wrong conclusions and say, "You know, does anyone in this room actually know what causes Marfan Syndrome?" Their scant knowledge -- association of height with growth hormones, and how pregnant women get weepy because of hormones -- resulted in them running pell-mell into left field. And they didn't even know it. That entire roomful of people, and everyone else who was watching that show, was left with the (erroneous) impression that people with Marfan could be dangerously emotionally unstable.

People with Marfan can also jump to conclusions, and for more concrete reasons. When you have a disorder that impacts so many apparently unrelated body systems, it's tempting to see everything that goes wrong with you as a symptom of Marfan. In reality, just because someone has Marfan doesn't mean they won't have anything else in their lives. People with Marfan get cancer like everyone else -- not because of their Marfan, but because they can indeed get cancer, just like everyone else. People with Marfan get migraines, allergies, and the entire complex of other things that any other able-bodied person gets. And when your entire medical history so far has been dictated by your Marfan, it's very easy to assume that your food allergies or your dyslexia is also related to it.

They may be -- but it's vitally important to refrain from leaping to any sort of conclusion without hard evidence. And so far no evidence has uncovered a link between Marfan Syndrome and any of a variety of learning or emotional disorders. Stay current on the latest research through the National Marfan Foundation.

[Back To Top]
* * * * *

"Genetic testing might make Marfan Syndrome a thing of the past. Wouldn't that be great?"

Believe it or not, this is more of a grey area than most able-bodied people think, as is the case with most genetic conditions such as albinism, achondroplasia (dwarfism), or anything that results in an unusual appearance or body structure. I believe I can narrow the concerns down to two different considerations.

The first concern is that people who wish to alter another person's body structure might wish to do so not for the comfort of the affected person, but for their own comfort -- perhaps because seeing someone with an unusual anatomy is something they find alarming or disquieting. Instead of the affected person's comfort and convenience, they are thinking of their own. They consider that the affected person offends their sensibilities, and must be altered so that they are not disquieted -- even subconsciously.

This isn't a big reason for all such considerations, and especially given that Marfan Syndrome kills, a strong case can be made that it should be eliminated. (When it comes to other conditions that are simply unusual and sometimes inconvenient but not often lifethreatening, like achondroplasia, this argument can't really be made.) But at any rate, the concern still stands -- do you wish to alter someone or remove their condition from the human race because you care for their comfort or survival, or because they make you nervous or queasy? Are you thinking of their comfort or your own? These are not trivial questions. If they seem reasonable to you, then would it also be reasonable to encourage black people to lighten their skin, or Asians to have plastic surgery to look occidental in order to make others comfortable? There is a line that has to be drawn here, and we can't ignore it.

Another consideration sounds sentimentalist, but it's not. (I've got a heart like a cash register, so I don't think I can fairly be accused of being a sentimentalist.) When I consider what I learned about life and various issues, both political and psychological, from having Marfan Syndrome, I'm not entirely sure I'd want to do without those insights. Of course, when I think of my dad or my brother, I'd rid them of their Marfan in a heartbeat if I could, so it's still a grey area. But this is a valid point to bring up: many people with genetic conditions or disabilities are proud of the hard-won insights into life that their conditions have given them. Several of our most effective presidents had serious physical ailments or outright disabilities. If we rid humanity of these genetic conditions, might we also rid ourselves of what they could teach us?

I don't mean to state that NO genetic conditions should be eradicated, or even that one person might not feel differently about their own situation depending on the day of the week, their mood, or whether they've had their morning coffee yet. I lost my father to this damned disability, and that loss continues to be far and away the worst experience of my life. But I've also learned a lot from my own Marfan. It's just not as simple an issue as the able-bodied community often believes. There are grey areas here, and they must be taken into account when the topic comes up.

[Back To Top]

Marfan Syndrome in the news

There has been a wonderful increase in the awareness of Marfan Syndrome recently due to a number of things -- mostly due to the efforts of the NMF, but partly due to some questions being raised about various people both famous and infamous, as well as various media health issues.

July 2000:

Doctors around the country feel confident enough in DNA testing that they are poised to begin genetic tests on samples of Abraham Lincoln's DNA, harvested from the blood, hair, and bones of the late president. You can see the article at http://www.post-gazette.com/headlines/20000725lincoln8.asp.

January 2000:

Recent research has demonstrated that a number of St. Jude mechanical heart valves, those with a silver coating on the valve cuff (called Silzone) are prone to leakage around the valve cuff. People with Marfan are highly likely to have mechanical heart valves, and if you have had a St. Jude valve implant, you should learn about it to see if you have reason for concern. You can learn more at http://www.sjm.com/3.0/3.6/3.6.3.shtm. You can find phone numbers for more information, affected model numbers, and more.

August 1999:

In January of 1996, the playwright Jonathon Larson, writer of the Tony award winning Broadway show "Rent," died of a misdiagnosed aortic dissection. He went into an ER while he was suffering the symptoms of a dissection and was diagnosed as having stomach flu, handed antibiotics, and sent home. He went back the second day and was sent home again. Within 24hrs, he was found dead in his apartment, and he's not the first such case of someone being sent home to die of an aortic dissection. Thanks to this web page, I can tell you that I've gotten several messages from people who can relate identical stories about their friends, spouses, and children being sent home, oftentime after they tried to check themselves into the hospital. One such woman died on the way home from the ER in her friend's car.

The reason why I'm bringing this up now is because Larson's parents have recently won a million-dollar chunk of money from the hospitals that misdiagnosed their son, Cabrini Medical Center and St. Vincent's Medical Center. Both hospitals were also issued Statements of Deficiency and fined by the New York Health Department. If you have lost a friend or family member due to a Marfan misdiagnosis and are presently trying to find a lawyer to take your case, definitely mention this -- it sets a precedent for such cases being won. Be sure to print out the NMF press release for any lawyer you talk to, and good luck.

[Back To Top]

What are the latest advances in treatment?

It's important to realize that it wasn't too long ago that doctors didn't even know what Marfan Syndrome was. It was believed to be a muscle weakness, asthma, even poor posture. The malformation of connective tissue (specifically, a component called fibrillin) was only discovered in 1986 by Dr. Lynn Sakai. The genetic cause was only traced to chromosome 15, FBN1 in 1992. To think of it another way, Bill Clinton was president when the root cause of Marfan Syndrome was found -- that's incredibly recent. As a result, this new level of understanding has promoted a tremendous increase in the quality of care for Marfan Syndrome patients. Whereas the expected lifespan for men and women was 40 and 50, respectively, in the mid 1970s, nowdays it's up to 70. The new knowledge that we have, and have gained only recently, has made an amazing difference in relatively little time.

Nowdays, beta blockers are prescribed routinely for everyone affected by Marfan Syndrome (if your doctor doesn't give you beta blockers the second the diagnosis is made, get another doctor). If Marfan is diagnosed while you are relatively young, this can prevent the need for cardiac surgery entirely. If, like me, you are older when you are diagnosed (I was 33 at time of diagnosis), taking beta blockers can push the need for surgery into the future far enough to make a real difference.

This doesn't sound like much more than avoidance until you look at the advances being made in surgical techniques. Even ten years ago, the only option for patients with dilating aortas or bad heart valves was surgical removal and replacement with artificial aortic arches and artificial heart valves. In order to prevent blood clots from forming on the implants, breaking off, and wandering off to cause strokes and blockages elsewhere in the body, people with these implants must take anticoagulants daily for the rest of their lives. Nowdays, doctors are working on ways to wrap the aorta in something akin to an Ace bandage to shore it up so that it doesn't dilate and need replacement in the first place. Surgical techniques are being pioneered not to remove and replace faulty heart valves with mechanical ones -- but to actually fix the ones you've got. Both of these options avoid the need for anticoagulant medications since the only surfaces that your blood would contact are the natural surfaces of your own heart and blood vessels.

Scoliosis treatment is advancing as well, although it is less well understood. A spine is, after all, a rather big thing. But if a Marfan diagnosis is made before adolescence, then a brace can be applied to prevent the advancement of the curve during the growth spurt. And eye surgery techniques to deal with off-center lenses and cataracts are improving daily.

If you have just been diagnosed with Marfan Syndrome, and you are not in immediate need of surgical intervention, the best thing in the world for you to do is take your beta blockers religiously, moderate your activity level, and monitor your aortic diameter. If you can forestall the need for surgery for even ten years, the advances will likely be such that you might not receive any implants whatsoever. Again, the understanding of just what Marfan is has increased the quality of care and treatment astronomically in just the last ten years, and that curve doesn't appear to be levelling off any time soon.

[Back To Top]

Women and Marfan -- body issues

One of the more irritating nonmedical things that I've found out about having Marfan Syndrome is that it is very difficult to talk about this disorder as a woman, when two of the symptoms of the disorder are height and thinness. Mild Marfan Syndrome can sometimes be seen as not a disorder at all by many laypeople, particularly women who battle their weight.

This can be particularly annoying for women who have Marfan Syndrome who get the distinct impression that even though we may sustain cardiac problems, we are not nearly as bad off as someone who can't find a pair of jeans that fit or who joined Jenny Craig last week. Otherwise, we are often pitied smugly by the same women who take a very poorly-disguised pleasure in the fact that, while we may be thin and tall, we are in actuality disabled. It feeds a sort of spiteful revenge for them to feel justified in thinking, "See! I always knew that all those thin women on TV and in the movies that I see are actually death-warmed-over!" Failing this, they can be tolerant and "forgiving," seeing the syndrome as a suitable "apology" for being thin. These same women would never dare to express any smugness or hostility toward an attractive blind woman, or a thin woman in a wheelchair. And yet Marfan Syndrome and its attendant height and thinness are seen as fair targets.

It's especially tragic because many overweight women who react this way often complain about the unfair and distorted body image in our society that demands that a woman be unrealistically and unheathily thin -- and yet in their reaction to women with Marfan Syndrome, they reveal that they have bought into that mindset hook, line, and sinker.

If you are reading this and have ever felt this way, please be aware that we are not thin to piss you off, to make you feel bad about yourself, and that we are not about to apologize for what we look like. Nor are we tragically and justly deformed. This is what our bodies are, no more and no less. It's that simple. Many people who are affected by Marfan Syndrome have also lived a life of childhood taunts and cruelty, which hurt just as much as any joke about the Pillsbury Doughboy. We will not apologize for being what we are.

My way of looking at it is that this syndrome has cost me enough. It took my father from me before I was 21. And because of it, my body has caused me enough problems, and I've gotten few enough pleasures and more than enough pain out of it. If I can get one measley positive experience out of it by wearing a short skirt or a spandex dress or two, I've more than got it coming.

[Back To Top]
* * * * *

Is pregnancy a particular problem?

It can be. Most OB/GYNs will consider any pregnancy on the part of a woman with Marfan Syndrome a "high risk" pregnancy. Gestating a baby and delivering it is a very stressful thing for a body to do, and the process can place a tremendous amount of stress on an already sub-par cardiovascular symptom. Instances of women dying from aortic dissections during gestation or delivery are not unheard of. The National Marfan Foundation's literature states that a woman with Marfan Syndrome whose aorta has dilated by 10% stands an extremely high chance of suffering a dissection or rupture during gestation or delivery. THIS CAN KILL YOU AND CAN KILL YOUR FETUS AS WELL. Even if you don't experience a dissection or aneurysm during pregnancy, your chances of having one soon after the child is born increase dramatically due to the greater stress of gestation on your cardiovascular system. Even if you give birth successfully, you may not live to see your child out of diapers.

Because of this, the best option for a woman with Marfan Syndrome is simply not to give birth. If you wish to do so anyway, you must consult with a cardiologist specializing in Marfan Syndrome during your pregnancy. It is recommended that you finish having children by at least age 30 in order to place the maximum stress on your cardiovascular system when it is in as good shape as it's going to be, and any woman with an aortic diameter over 4cm is strongly discouraged from getting pregnant. Adoption is absolutely the best option for the health of a woman with Marfan Syndrome.

If you're currently pregnant and you have Marfan, you must have many echocardiograms done to monitor the size of your aorta. Doing one at the beginning isn't enough. Pregnancy stresses the cardiovascular system tremendously, and if your aorta is at 3.2cm at the beginning of your pregnancy, and suddenly begins to expand over the next few months, there is a strong possibiliy that you will die before delivering. If you have Marfan and are currently pregnant, a cardiologist familiar with Marfan absolutely, positively must be intimately involved with your situation. Multiple and nearly constant monitoring of your aorta is crucial to your and your fetus's survival.

Aside from the issues surrounding pregnancy and parturition, there are also the issues surrounding the passing on of the defective Chromosome 15 by either parent -- mother or father. These issue must be weighed carefully by anyone, male or female, who has Marfan Syndrome and is considering having children. If you have Marfan Syndrome, any of your children stand a 50% chance of having it as well.

[Back To Top]

How can I learn more?

The following links are excellent places to start finding out more about Marfan Syndrome. However, please be aware that all the webpages in the world won't tell you nearly as much about your condition or that of a friend or family member as much as one good echocardiogram will. If you suspect that you or someone you know is affected by Marfan Syndrome, you must see a doctor in order to be evaluated. I recommend a cardiologist who is familiar with Marfan Syndrome.

You can also turn up good stuff at any of the various search engines by entering "Marfan Syndrome."

[Back To Top]