Dear Barb—When You Are Between a Rock & a Hard Place

Hi, I am in my thirties and a couple of years ago I was diagnosed with a heart condition, cardiomyopathy.  It took me a long time to come to grips with the reality that I will have to live with for the rest of my life.  I have a great cardiologist, who monitors me regularly, and with my medication my condition is stable.  Also my husband is very supportive.  The heart condition I have may have a genetic link, and I am considering whether I want to go for genetic testing to see if my heart condition is familial.  I have talked to a genetic counselor and she suggested I consider carefully whether I want to find out, as if it is genetic, it will be very hard for anyone in my immediate family to get life insurance or critical illness insurance.  I am worried if my two young sons have inherited the gene and will ultimately end up with the same condition.  My two sisters have different opinions, one of them thinks I should do the testing and the other one says she does not want to know the results.  I am so confused and looking for another opinion.  Thanks, Mara. 

Hey Mara:

So sorry to hear about your condition.  You do have a difficult decision to make, however just because someone inherited the gene doesn’t mean they will develop the condition.  Harvard Health offers some insight into what genetic testing can reveal.

The most important aspect is to live a heart healthy lifestyle, which includes watching your cholesterol, getting enough exercise, and reducing your intake of red meat.  As well, regular monitoring by your family doctor or a cardiologist is essential.  You need a yearly echocardiogram and stress test where any changes can be discovered early and treated.  When your family members tell their doctor of your condition, there shouldn’t be a problem with close monitoring.  On the other hand, if you have inherited the gene and familial cardiomyopathy has been confirmed, your boys will be monitored more closely, especially if they go into sports.  Often this condition is discovered through a sudden cardiac event which has occurred while active in intense sports.  There are considerations for genetic testing of children and the age at which this should be done.  These are questions that you can discuss with your genetic counselor, and I believe your family members should also meet with a genetic counselor.  As a family you need to find out all the information you can and discuss the possible scenarios and how to handle them.  Thank you for your letter Mara.  I found a couple of websites that might be helpful for you to read and forward to your family members: