Interview

I interviewed a member of a support group for people who have the disease. Here's our exchange!

1. What is one thing we could do to raise awareness about Marfan Syndrome?

- To be honest any way you can raise awareness is the way to go, the best thing that can happen to a patient is early diagnosis, so if people are aware of the disease and get checked it could very well save lives.

2. What type of Support does your group provide to people who have been diagnosed with the disease?

- We bring people who have Marfan's together, that way they have people to talk to that are going through the same thing. We also try our best to give our support to them in anyway possible, whatever it may be.

3. On average, how much does treatment cost per month?  Is this covered by insurance?

- It depends on how severely the individual is affected. Up until it gets more severe it costs the same as any other normal person. Once surgery comes into the picture, well then it depends on how much insurance coverage they have. But other than major surgery, the main additional cost of maintaining an individual would be for medication.

4. Do all patients experience the same symptoms, or does it vary depending on the person?

- It all depends on the type you have, different people with different types experience different symptoms.

5. How are you involved in the support group?

- I am actually new to the support group, but so far I've just been helping out in different ways. I hope to get more involved soon though.

Daily Life with Marfan Syndrome

Advances in medical care are helping people with Marfan syndrome lead longer and more enjoyable lives. Early diagnosis allows treatment to begin sooner. Your health care provider may recommend certain guidelines for daily living. Talk to your health care provider about what lifestyle changes can best help you.

For the most part, people with Marfan syndrome can lead a normal lifestyle. Most people with Marfan’s can do some type of physical and/or recreational activity. It is recommended that people with Marfan’s should avoid activities or jobs that require physically strenuous activity. You should not lift heavy weights if you have Marfan’s. Contact and competitive sports such as football and basketball should be avoided.

There are no special dietary restrictions for people with Marfan syndrome. It is recommended that you eat a well-balanced diet low in fat and cholesterol.

Having Marfan syndrome does not mean you cannot live a long and enjoyable life. It is recommended that you receive routine medical care and follow-ups. It is important that you seek care from a doctor who has experience in treating Marfan syndrome. It is also recommended that you have routine eye exams, dental care, cardiovascular care and skeletal exams. Your health care provider can help you determine the frequency of your visits.

A Marfan Syndrome patient talking about her disease, her life and some effects on her body.

Marfan Syndrome Punnett Square

In my last post I discussed the chances of the disease being passed on to the children of someone who has the disease. If an individual carries an abnormal gene for Marfan syndrome, that individual has a 50 percent risk of passing down the disorder to each future offspring (as shown in attached photo). If a person does not carry the gene abnormality, then the risk for occurrence of the disorder in future offspring is the same as for the general population. In the attached photo we see a couple, one is a carrier and the other is not, as a result the chance of getting the disease from the parents is 50-50.

Inheriting Marfan Syndrome

Marfan Syndrome is autosomal dominant. Autosomal dominant inheritance means that the gene in question is located on one of the autosomes. These are numbered pairs of chromosomes, 1 through 22. (These chromosomes do not determine an offspring's gender.) Dominant means that only one gene from one parent is necessary to pass down a trait or a disorder. When a parent has a dominant trait or disorder, there is a 50 percent chance that any child he or she has will also inherit the trait or disorder. Marfan syndrome occurs in one of 5,000 live births. The gene for Marfan syndrome is called fibrillin-1. This gene is localized to chromosome #15 on the long arm (q) at 15q21.1. 

Common findings in individuals with Marfan syndrome include those related to connective tissue disorders. These include abnormal enlargement of the aortic root of the heart, dislocated lenses of the eyes, and a tall, lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers.  Findings may vary among individuals diagnosed with this condition, even within a family.

If an individual carries an abnormal gene for Marfan syndrome, that individual has a 50 percent risk of passing down the disorder to each future offspring. If a person does not carry the gene abnormality, then the risk for occurrence of the disorder in future offspring is the same as for the general population.

What is Marfan Syndrome?

Marfan syndrome is a genetic disorder that affects the body’s connective tissue.  Connective tissue helps to hold the body’s cells, organs, and tissues together and also helps to control how the body grows and develops. 

There are also several disorders related to Marfan syndrome that cause people to struggle with the same or similar physical problems, and anyone affected by these disorders needs an early and accurate diagnosis.

Marfan syndrome is a serious condition, and some complications can be potentially life-threatening.  Although there is no cure for Marfan syndrome, advances in medical care are helping people live a normal lifespan.  And that is why early and accurate diagnosis is so important, not only for people with Marfan syndrome, but also for those with related disorders.