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Marfan Syndrome

About Dr Irfan Ilahi

INTRODUCTION 
This booklet has been written specifically for teenagers with Marfan syndrome. The diagnosis often prompts young people to 
ask: 

What is Marfan syndrome? 
How is it going to affect me? 
What can't I do? 
What can I do? 
Why did this happen to me?

If this applies to you, keep reading! You are not alone. 

While adults with Marfan syndrome have the same questions, teenagers have more trouble getting answers. Well-meaning parents, doctors, even teens themselves may mistakenly believe that having only a little information is preferable to having a lot. 

Actually, the more you understand about Marfan syndrome, the better off you will be. At this age, it is important to get accurate information and to understand what your parents and the doctors are talking about. You should have a voice in decisions that involve your health and your future. 

This booklet describes Marfan syndrome and its effects, how it is treated, and how to deal with doctors and hospitalizations. In addition, possible reactions to having Marfan syndrome, telling others about it, planning your own future, and ways that can help you adjust emotionally and socially to having Marfan syndrome are discussed. 

Having Marfan syndrome does not make you less valuable as a human being or less likely to lead a full and rewarding life. The more you understand Marfan syndrome, the less it will interfere with whatever goals you set for yourself. That's the point of this booklet. 

WHAT IS THE MARFAN SYNDROME? 
The Marfan syndrome is a medical condition affecting primarily the eyes, heart and skeleton, but it can affect other parts of the body too. Everyone who has the Marfan syndrome is affected a bit differently by it, and no one person with the condition will have all of the possible complications. Eye problems associated with Marfan syndrome include nearsightedness and possible dislocated lenses in the eye. Heart problems may include mitral valve prolapse, which is a floppy heart valve, and enlargment of the aorta, which is the main artery carrying blood from the heart. In the skeletal system, people with the Marfan syndrome tend 
to be tall and thin and may have curvature of the spine (scoliosis), a breastbone that protrudes or indents (pectus), and flat feet or unusually high arches. People tend to have long fingers and toes and unusually flexible joints. 

WHAT CAUSES THE MARFAN SYNDROME? 
The Marfan syndrome is a genetic condition caused by a change in one gene, present in every cell of the body. The gene causing the Marfan syndrome can be inherited from a parent, who also has the condition, or can occur only in the egg or sperm of an unaffected parent (a "new mutation"). About 3/4 of people with Marfan syndrome have an affected parent, and 1/4 have the condition due to a new mutation. The gene responsible for the Marfan syndrome alters the connective tissue in the body, causing the typical changes in the eye, heart, skeleton and other organs. Men and women are affected as often and as severely. 

A person with the Marfan syndrome has a 50-50 chance of passing on the Marfan gene each time he or she parents a child. 
Marfan syndrome can vary widely in severity, even within one family, so a child with Marfan syndrome can have the condition more or less severely than his or her affected parent. 

HOW IS THE MARFAN SYNDROME TREATED? 
At present, there is no cure for the Marfan syndrome, but most medical problems associated with the condition can be treated effectively, especially if problems are found early. Adequate treatment involves concentrating on the organs primarily affected by the Marfan syndrome. You may therefore have more than one doctor. 

The eye doctor, or ophthalmologist, may want to examine your eyes once a year, or more often, and is likely to prescribe glasses. While some people with Marfan syndrome have no eye trouble at all, most need glasses or contact lenses. However, some people have severe nearsightedness or an unusual type of lens dislocation, and contact lenses alone might not correct the vision. If you want to wear contact lenses and have been told that it is impossible, you might ask your parents to request a second opinion from another eye doctor who is experienced in treating people with Marfan syndrome. 

Although it is unusual for young people with the Marfan syndrome to feel ill because of heart problems, you will most likely need to see a cardiologist for periodic check-ups. The cardiologist will probably order an echocardiogram, which is a sound-wave test of the heart, to check on the size of the aorta and the functioning of the heart valves. You might need to take a beta-blocker medication like atenolol (Tenormin) or nadolol (Corgard) to slow the rate and force of the heartbeat, and thereby lessen the risk for enlargement of the aorta. The cardiologist may talk about the size of your aorta with you and your parents. 
The major heart complication of the Marfan syndrome is enlargement and tearing of the aorta. Enlargement is progressive and more likely to occur if the heart needs to work hard over a long period of time, as in competitive sports activities or vigorous physical work. A blow to the chest, as sometimes occurs in contact sports, may cause a tear in the wall of the aorta (called a dissection). Some people with Marfan syndrome, especially as they get older, will need heart surgery to replace both the portion of the aorta that is enlarged and the valve between the aorta and the heart. This surgery is now quite successful and it 
has vastly improved the long-term outlook for people with Marfan syndrome. Most of your visits to the cardiologist will be for preventive check-ups. You won't feel like you have a heart condition. 

Your skeletal system will need periodic evaluation by your family physician, pediatrician or orthopedist. Curvature of the spine can worsen during adolescence when the rate of bone growth increases. If scoliosis is severe, an orthopedist might prescribe a back brace to be worn most of the day. For a few people, back surgery may be necessary to stabilize the spine. Unfortunately, 
there is nothing that can be done about long arms and legs or large hands and feet and little to be done for general slenderness often associated with Marfan syndrome. If you are especially bothered or embarrassed by the shape of your breastbone, surgery can be done to correct it, but it is generally not recommended until growth is nearly completed. 

DEALING WITH DOCTORS 
Most teenagers (and adults too!) hate going to the doctor, especially if they don't feel sick and if they expect to get bad news or undergo special tests. Doctor visits can be less unpleasant if you keep yourself informed about what is being done and why. 
Are you a passive object during your appointments, being talked about and around? Try being an active participant by asking the doctor questions. If you would feel more comfortable without your parents around, ask to spend time alone with the doctor. 
Keep asking your questions until you're satisfied with the answers. If you are taking medicine or having a certain test taken, find out why. 

HOSPITALIZATION 
You might need to be admitted to the hospital at some point, either for surgery or tests that cannot be performed on an outpatient basis. Being in the hospital can be scary. One way to feel better about hospitalization is to find out as much as you can about what is going to happen to you there. Another way to feel better might be to talk to your doctor, parents and friends about your fears. 

Most hospitals have informational brochures available for teenagers about being in the hospital. This information can let you know what kind of room you will be in, what you need to bring to the hospital and when your family and friends can visit you. 
You might need to keep up with your school work while you are in the hospital, so check with your teachers about having work brought to you there. 

You will probably meet lots of doctors, nurses and other staff people while you are in the hospital. Ask them questions about what is happening to you. Medical people often use complex language to explain simple concepts; keep asking until you really understand what they're saying. Of all the doctors you meet, usually only one doctor is primarily in charge of you while you are in the hospital. Be sure you know who that person is and find out how all the others fit into the picture. Nurses and some other members of your health team work in shifts so there will be someone nearby at all times, but it might be a different person at 
different times. Each of these people will ask you questions, and sometimes you will be asked the same question many times. 
This may be annoying, but it is necessary for your care. 

Before you leave the hospital, a doctor or nurse should give you instructions about any special diets you might need to follow, about any special exercises you need to do or about any medicines you need to take. Even if they already told your parents, ask again. Remember, they have been asking you the same questions over and over. Now, it's your turn. You should know who to call if there are problems or questions and when you are supposed to see your doctor next. 

HOW DO TEENAGERS USUALLY REACT TO BEING TOLD THEY HAVE MARFAN SYNDROME? 
Many people are diagnosed as having Marfan syndrome as children and grow up knowing that they have a medical condition. 
Parents sometimes "protect" their children from an in-depth understanding of the condition, either because they think children aren't ready for it or because the parents are uncomfortable discussing it. As children become teenagers and learn more about Marfan syndrome, they may become resentful towards their parents or the doctors who had seemingly withheld information. 
However, the parents and doctors probably discussed as much as they thought the child could handle at a given age, and resentment might be unjustified. 

Even before Marfan syndrome is diagnosed, many teenagers feel different from their friends. They are probably taller and thinner than their classmates and may wear thick glasses or special shoes. When Marfan syndrome is diagnosed, a teenager can react in many ways. There can be a mixture of fear, panic, anger or even relief over finding a name for what makes him or her feel different. If a diagnosis of Marfan syndrome means giving up an important sports activity, it can be a crushing blow. Others feel labeled or embarrassed by having a condition which has a name and makes them different from their friends. All these 
reactions, in any combination, are justified. 

Many teenagers don't want to talk about Marfan syndrome or think about it at all. There is a delicate balance between ignoring something and putting it in its place in life. You need to find that balance between living life to its fullest and protecting your health. 

WHAT SORT OF LIFESTYLE CAN YOU LEAD? 
For the most part, you can lead a nearly normal lifestyle. However, there will be restrictions on participation in contact sports and certain activities requiring excessive exertion or weight-lifting. Such restrictions will be especially difficult for those who enjoy or excel in certain contact sports, such as basketball or football. These kinds of restrictions may seem unfair and are certainly a great loss for an athlete. You are justified in feeling angry. Anger, however, is not constructive if it is held inside or misdirected. Harness your anger and let it work for you. Develop confidence in your own abilities, whatever they are. Find other activities you can do that are medically acceptable. Develop other interests. Engage in sports that are not restricted. Talk to your doctor about sports you can safely participate in and about how active you can be. If necessary, ask your doctor to 
write to your gym teacher or coach about things you can do. It is generally possible to continue to participate in regular gym activities or in a modified program. It is important to keep in good physical condition and to remain active if you have Marfan syndrome. 

You can have a perfectly normal sexual relationship when you are ready for it. Sex is not one of the activities that people with Marfan syndrome must avoid! An entire booklet could be devoted to the complex issue of sex (what, when, where, how and why); here we will only say that sex is an adult activity with adult consequences and should be carefully, thoughtfully considered, whether you have Marfan syndrome or not. 

Eventually, you will find the person with whom you will want to become intimate, who will share your life, love you for yourself, and completely accept Marfan syndrome as a part of you. Further along in time, you and your partner will decide together on important issues such as whether or not to have children and how large a family you want to have, if you decide to have one. 
Because there is a 50 percent chance of having a child with Marfan syndrome, people who themselves have Marfan syndrome might want to seek genetic counseling before starting a family. 

It is important, if you are female, to ask your doctor about safeguards during pregnancy or about possible pregnancy complications. Because pregnancy puts great strain on the heart, it is especially important for a woman with Marfan syndrome to get a cardiac evaluation before becoming pregnant. Many women with Marfan syndrome, having obtained the necessary information, choose to have children of their own and do very well. 

You can count on being able to lead the same kind of adult lifestyle as your friends. Marfan syndrome will not prevent you from finding a mate, enjoying your sex life, and raising a family. 

TELLING OTHERS 
Openness and good communication are important, but it is not necessary for everyone to know your diagnosis. It is up to you to choose whom to tell, when to tell, and how much to tell about having Marfan syndrome. Perhaps you will want to tell those people closest to you, such as your best friend or your favorite teacher. Of course, having Marfan syndrome is nothing to be ashamed of. If you feel comfortable with it, chances are that people you tell won't think Marfan syndrome is a big deal, they won't feel sorry for you and they won't treat you differently from other people. If you're not sure of what to say, give them this 
booklet. It's a start. 

If your parents are telling people about your Marfan syndrome and you don't want them to, let them know it. Explain to your parents why you don't want this information shared. Let your parents know that you aren't ashamed of having Marfan syndrome, but that, at the same time, there are only certain people who you believe need to know about your diagnosis. 

Remember, parents often have problems coming to grips with the fact that their son or daughter has Marfan syndrome. 

CAREERS AND FUTURE PLANNING 
At some time during your teens, you will be making decisions about a career. Will you go to college? Get a job? What major will you take? Marfan syndrome does not necessarily have much of a role in these decisions. Adults with Marfan syndrome are leading full and rewarding lives as lawyers, nurses, teachers, writers, secretaries, doctors and whatever else they wanted to be. 
Although you need to be aware that you will always have Marfan syndrome, you do not have to let that interfere with your life. 
You should be able to do just about anything, with a few exceptions. You should only avoid jobs that involve heavy exertion or lifting, so, for example, a job in construction or as a professional athlete is not for you. It is always a good idea to get the best education you can in order to have the most career opportunities. You will face the same dilemmas and challenges as your peers: finding your talents, your unique qualities, and developing them to the fullest. With determination, you can have a rewarding career, a full life outside of work, a suitable companion, and fulfillment of your expectations. 

APPEARANCE 
All of us are occasionally unhappy with the way we look. Most people learn to adjust and work with what they've got. For example, height and thinness can be turned into an asset by wearing certain clothing. You can develop your own style and flair. 
Some physical features that may bother you, such as an indented chest or crowded teeth, can often be corrected. Thick glasses can sometimes be replaced with contact lenses. Ask your parents and your doctor about these possibilities. Remember that looks are only the surface part of you. Did you ever notice how people get better looking the more you like them? 

But still, there will be times others will hurt you with their insensitivity, by making fun of the way you look. Friends may disappoint you with their behavior, when you think they should know better. There are no easy answers for so many of the 
problems of adolescence. You need to find the way that works best for you. Looks do become less important as you get older. 
Maybe it's just that other qualities become more important. In the long run, the kind of person you are, your values, interests and ideas, will make you far more attractive than all the facelifts and body tucks in the world ever could. 

HOW DO FAMILIES REACT TO MARFAN SYNDROME? 
Marfan syndrome in just one person in a family will affect the entire family. Each family will react differently to Marfan syndrome. 

In many families, a young person with Marfan syndrome will have a parent who is also affected. There may be times when anger or blame is directed at the affected parent which can in turn lead to guilt on both sides. This is perfectly normal. If you are angry at your parent with Marfan syndrome, let him or her know it, but also take advantage of your parent's experience in having grown up with Marfan syndrome. You will find that you have many shared experiences. 

It is normal also to feel jealous of brothers and sisters. This may be intensified if the brother or sister does not have Marfan syndrome and does not need to restrict activities, make frequent trips to the doctor or take special medications. Your brothers and sisters might actually be jealous of you, thinking that you get extra attention or an additional measure of concern from your parents. Your brothers and sisters might also have many questions about Marfan syndrome and concerns about your health or your future. Talk to members of your family about how you feel. They can be supportive, and it is often a great relief to get feelings out in the open. 

You might think that your parents are being overly protective of you or that they bother you too much about activities or medication. This may be true. Taking medication shouldn't be a game or a power struggle between you and your parents. The best way to get them to change their behavior is to become responsible for yourself. If you take your medication before they remind you, the upper hand will be yours. This will leave more time to argue with them over everything else. Chances are that soon, they won't have to raise the subject. 

LIVING WITH MARFAN SYNDROME 
If you have Marfan syndrome, sometimes you may be angry, exasperated, frightened, or depressed. Being told that something is wrong with parts of your body is scary. Knowing one of your parents has the same disorder and passed it on to you might make you angry or fearful for your parent's health. Having to give up certain sports may be a real blow. These feelings are perfectly normal unless they begin to take over your life. If they do, it might be time to turn to a trusted teacher, a member of the clergy, or a professional counselor for help. 

What can you do, on your own, to feel better about having Marfan syndrome? Sometimes it helps to sit down with a parent at a quiet time and share some of your questions and feelings. Try to learn everything you can about your own medical situation; it will make you feel more in control of your life. Try to express your feelings to your physician or counselor or anyone else you trust. Sometimes just talking about what you feel makes the feelings manageable. 

Friends can be of help, as can our parents and brothers and sisters, but there are times when all of us feel alone. Most of the time, it's not that we're really alone and unloved; it's that we feel that those people around don't really understand us. 
Sometimes a support group of people in similar situations can help fill the void. Perhaps other teenagers with Marfan syndrome can relate to you in the way you need. It can help to know there are others who have similar experiences and feelings. You can find out about contacting other teenagers with Marfan syndrome through the National Marfan Foundation. 

There will be certain times when you are made very aware that you are someone with Marfan syndrome: when you have to go to the doctor for your yearly check-up; if you are teased by your classmates for being tall and thin or wearing thick glasses; if you can't find shoes to fit you; if you need surgery. These times make up a tiny percentage of all your time. Think about it; you are you first and only secondly, someone with Marfan syndrome. 

More about Marfan Syndrome