Marfan syndrome is a genetic disorder that affects the connective tissues in the body, which usually happens when mutated genes are passed down from the parent to the child. However, a child can still get Marfan syndrome randomly during the early development of the fetus.
Life With Marfan Syndrome
Living with Marfan syndrome is beyond the physical challenges. It can also have an emotional and psychological impact on a person. People who have Marfan syndrome often experience anxiety or depression due to how uncertain their health is.
In a case like this, support groups come in handy. When you connect with people, with other people who understand what you are going through, they can provide comfort and encouragement on how you can navigate this storm. It’s a reality that hits close to home when you hear stories like that of Jonathan Larson, a talented composer and playwright whose life was tragically cut short.
At just 35 years old, he had really bad chest pain and went to three different emergency rooms, but each time, doctors just sent him home, thinking it was just stress. They didn’t realize how serious his condition was. Sadly, things got worse, and he ended up having an aortic dissection, which led to his death right before Rent premiered.
Complications and Management of Marfan Syndrome
Marfan syndrome causes a lot of body complications, and in worst case scenarios like that of Jonathan Larson, it can lead to death.
Cardiovascular complications: One of the biggest issues with Marfan syndrome has to do with the heart and blood vessels. Many people with this condition can develop an aortic aneurysm, a bulge in the main artery that carries blood from the heart. Because the connective tissue in the main artery is weak, it stretches out and tears more easily. Another common problem is mitral valve prolapse, a condition where the heart’s mitral valve doesn’t close properly, which causes blood to leak back.
Skeletal complications: Marfan patients are taller than average, having long limbs and fingers. They also have a curved spine because the connective tissue is weak and bendy.
Eye complications: Another major issue is lens dislocation, where the lens of the eyes moves out of place, making their vision blurry. Also, people with Marfan are at a higher risk for glaucoma, a build up of pressure in the eyes.
How To Manage Marfan Syndrome
Regular check-ups: If you have Marfan syndrome, you will need to see your doctor regularly. These check-ups will allow the doctor to keep an eye on your heart and blood vessels. At this appointment, the doctor may conduct an echocardiogram, which is like an ultrasound for the heart. They check the size of the main artery, and see if it’s getting too big. If it gets too big, it could burst and lead to blood leakage.
Medications: The doctor may give you some medications like beta blockers, which will help lower your blood pressure and reduce the strain on your heart.
Surgery: If your aorta is really enlarged, the doctor might suggest you get surgery. The doctor may suggest fixing or replacing the aorta to make sure it doesn’t burst.
Monitoring other complications: Marfan syndrome can also damage the bones and the joints. That’s why it is good to see an orthopedic doctor to check things like curved spines or joint pain. You can use physical therapy to strengthen your muscles which will allow you to do everyday stuff.
On the other hand, if you have a problem like a dislocation or glaucoma, your doctor can prescribe glasses or contacts, or in some cases, recommend surgery to fix the eyes.
Conclusion
Marfan syndrome is a genetic disorder that affects the connective tissues. The main reason is mutations in the FBN1 gene. It can occur unexpectedly in children due to random mutations during early fetal development. People with Marfan syndrome also face issues like anxiety and depression. The case of Jonathan Larson, who died from an undiagnosed aortic dissection at 35, shows the need for proper diagnosis and treatment.
