See a geneticist. There are many options for genetic testing for Marfan syndrome, but for a baby the best answer comes not from tests but from a careful history, family history, and physical examination. Sifting through the information and making sense of it in light of the new diagnostic guidelines (the 2010 ghent criteria) may show you that testing makes sense - or maybe not. Your clinical geneticist can help.
Sure. Here you are: http://www. Marfan. Org/about/marfan.
I think I have Marfan syndrome, but I'm not sure if I want to go get checked. Will it affect insurance?
Unknown. The new health care law says that insurers cannot deny insurance for "preexisting conditions". So if this health care law stays in place it will not be a problem. No matter what, if you may have marfan's you need to have it confirmed, and if positive see a cardiologist. With good care, pts with marfan's can have normal lifespan. Without care they can have cardiac problems.
Maybe. It won't affect health insurance under the new health care act in us, but it could impact the cost of life or disability insurance. It is still better to get it checked because of the treatable problems associated with marfan's. Check with your insurance broker about the latter two issues.
May be the treatment. The beta-blocker medications used to control a Marfan syndrome patient's blood pressure and heart rate can cause fatigue. If such a side effect seems to be happening, the patient's primary care doctor or cardiologist can re-evaluate.
Dont know. Marfan syndrome is a relatively rare condition that effects different body systems differently and to a lesser or greater extent. This type of question should be answered by whatever congenital disease specialist you take him to. Lazy and tired does not just occur in marfan's. I have it (lazy and tired that is).
See below. National Marfan foundation web-site has valuable information.
It depends. If you are a man or a woman you need genetic counseling to understand the risk of genetic transmission. To avoid this risk, ivf+preimplantation genetic diagnosis is available for Marfan syndrome. If you are a man or a woman then you need to be tested for various fertility factors just like any-one who's unable to conceive for 1y. Women need cardiac evaluation esp. For aortic root dilatation.
Potentially yes. Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc), cardiovascular (dilated aortic root, valve trouble etc.), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck.
Please explain if it is possible to only have the physical conditions of Marfan syndrome and if so how can I get rid of it?
In your genes. Marfan syndrome is caused by a mutation in in the gene that codes for fibrillin-1. You cannot change your genes. Abnormal or deficient fibrillin production affects the structure of your eyes, heart, blood vessels, and bones and ligaments. The severity of effects in different individuals is highly variable.