Evan couldn't wait for school to begin. All summer long, he'd looked forward to trying out for the basketball team. He'd be a natural, everyone told him. At 14, he pretty much towered over his classmates.
But when the time came for his sports physical, the doctor noticed some things about Evan that needed a closer look. It wasn't just that Evan was really tall for his age — 6 feet and 1 inch, to be exact — but his arms, legs, and fingers were very long and thin and his chest had kind of a caved-in look. He also wore glasses for myopia (say: my-OH-pee-uh), or nearsightedness, which means he had trouble seeing things that were far away.
The doctor told Evan's parents that he couldn't give Evan the OK to try out until he'd a few medical tests. Why? Because the doctor suspected that Evan might have a disorder called Marfan syndrome.
What Is Marfan Syndrome?
Named after Antoine Marfan, the French doctor who discovered it in 1896, Marfan syndrome is a disorder that affects the body's connective tissue, which is found everywhere in the body. Think of it as a type of "glue" that helps support all of your organs, blood vessels, bones, joints, and muscles.
In people with Marfan syndrome, this "glue" is weaker than normal. This causes changes in many systems of the body, but especially the heart, eyes, and bones.
People with Marfan syndrome often share similar traits. They tend to be tall and thin with very long arms, legs, fingers, and toes. They often develop curves in their spines (scoliosis) or their chest bones. They also may be nearsighted and have other problems with their eyes.
But the most serious thing about Marfan syndrome is what can happen with the heart. Over time, weak connective tissue can cause the aorta, the large artery that carries blood away from the heart to the rest of the body, to stretch and dilate (say: DYE-late), or widen. If not treated, the aorta can suddenly tear, causing blood to leak out. This condition, called a dissection (say: dye-SEK-shun), is very serious and can cause death.
The good news is that even though Marfan syndrome has no cure, doctors can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early and get good medical care can live long, happy lives.
Marfan syndrome affects 1 in every 5,000 people all over the world. That makes it pretty rare. It's a genetic (say: juh-NEH-tik) disease, which means it is caused by a problem with a kid's genes that happens before birth.
Genes are what you inherit from your parents that make you . . . well, you. They're the blueprints that determine whether you have blue eyes or brown or whether you look like your mom or your dad. But sometimes genes can pass on some not-so-great things, too, like certain illnesses and diseases.
In most cases, the gene change for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. In these cases, a kid may have grandparents, aunts, uncles, or cousins who also have the disease. Every kid born to a parent who has Marfan syndrome has a 50% chance of having it, too.
Sometimes, though, neither parent has the disease. In these cases, a normal gene accidentally changed when a baby was first developing. This baby will be the first person in his or her family to have the disease, and as a grown-up will have a 50% chance of passing the changed gene on to each of his or her children.
Marfan syndrome can affect people very differently. Some may have very mild symptoms, while others, even within the same family, have severe ones. Doctors don't know why this happens.
The important thing to remember is that kids who have Marfan syndrome didn't do anything wrong to cause their disease. And it's not contagious either, meaning that kids who have it didn't catch it like a cold or a flu and you can't catch it from them.
Not everyone who's tall or thin or nearsighted has the disease. People who have Marfan syndrome have very specific symptoms that usually occur together, and it's this pattern that doctors look for when diagnosing it.
To be diagnosed with Marfan syndrome, people often see different types of doctors, including a geneticist (a doctor who specializes in disorders of the genes), a cardiologist (heart doctor), an ophthalmologist (eye doctor), and an orthopedist (bone doctor).
First, a geneticist will ask whether anyone else in the family has similar symptoms. Then he or she will probably do some painless exams — like taking measurements of the body, including an arm span. You may have heard of a bird's wingspan, which is how far the wings extend when they're spread out. Arm span is kind of like that.
To check your arm span, hold your arms straight out like you're making the letter T with your whole body. Your arm span is how long you measure from your left fingertips to your right fingertips. For some people with Marfan syndrome, their arm span is greater than their height. In other words, they have unusually long arms.
The geneticist may also ask if you or a family member had the gene test for Marfan syndrome. To perform this test, a small blood sample is needed to check if there is a change in the gene called FBN1. Changes in this gene cause Marfan syndrome.
The cardiologist will also do some tests that don't hurt. He or she may listen to the heart with a stethoscope; take an X-ray of the chest; and perform an electrocardiogram, or EKG (a test that measures electrical activity in the heart). An echocardiogram (a test that uses sound waves to make a picture of the heart) might be also done so the doctor can check the size of the aorta and look for any problems with the heart valves (the little "doors" inside the heart that help direct the flow of blood). In someone with Marfan syndrome, those valves can become floppy, causing blood to leak backward through the heart.
An eye doctor will check the eyes for dislocated (say: DISS-low-kay-ted) lenses. That's when the lenses (the focusing part of the eye) — which are usually fixed in place behind the pupil — shift out of place, usually upward and outward. More than half of all people with Marfan syndrome have it. Kids with the disorder are also more likely to have strabismus and amblyopia, and as they get older, some other eye problems, too.
An orthopedist will check for scoliosis, problems with the chest bone (in many people, it either curves in or sticks out), joint problems, and other things like flat feet.
Kids with Marfan syndrome must be followed closely by a team of doctors. Because kids' bodies grow and change so quickly, most kids will need echocardiograms about once a year, plus frequent eye and bone exams. This helps doctors stay on top of any new problems.
Doctors might also prescribe special medicines called beta blockers and ARBs, which help the heart not to pump so hard and cause less wear and tear on the blood vessels. Kids who are nearsighted or kids with amblyopia or strabismus will probably need to wear glasses. And kids who develop scoliosis may have to wear a special back brace.
Sometimes, kids may need to have surgery on their heart, eyes, back, or chest bones, depending on how severe problems become.
What a Kid With Marfan Can Do
Kids with Marfan syndrome can do lots of things to help keep themselves healthy. The most important thing is to avoid putting extra stress on the heart. That usually means avoiding any sport where there's a lot of running, muscle straining, or the chance of getting hit in the chest — things like basketball, football, baseball, gymnastics, weightlifting, and track.
That may be a bummer, but it doesn't mean kids with Marfan syndrome have to be couch potatoes. They can still play with their friends and even exercise — they just have to be a little more careful.
Kids should always check with their doctors about what's safe, but usually activities like walking, swimming, dancing — anything that can be done at a slower pace — get the green light. And of course all kids, with or without Marfan syndrome, should never smoke.
Marfan syndrome affects people differently, so life is not the same for all kids who have it. Some kids have many symptoms that require lots of medical care. Others have such a mild form of Marfan syndrome that they simply need to have a checkup once a year.
Even though Marfan syndrome doesn't affect how smart a kid is, some kids may need extra help in class because of vision problems. And they may need to sit out some activities during gym class. But other than that, kids with Marfan syndrome are just like everyone else — only a little taller.
If you have Marfan syndrome, you probably know that it can sometimes be hard to feel different from your friends. You might get sick of people commenting on your height, asking "How's the air up there?" or teasing you about your glasses. Just stand up tall and remember that everyone has things that make them unique.
And if you have a friend who's been diagnosed with Marfan syndrome and is sad about having to give up his or her favorite sport, why not show your support by finding new activities to enjoy together? There are far more things kids with Marfan syndrome can do than things they can't.
Take Evan, for example. He was pretty bummed to learn basketball wasn't going to be in his future. But then he started taking guitar lessons — and found that he was actually pretty good. In fact, his teacher says he's a natural!