It wasn’t until my uncle died that we discovered Marfan syndrome runs in the family. Now three of our family members (including one of our children) have been diagnosed with this condition. Isn’t this something the pediatrician should have picked up?

Marfan syndrome is a genetic disorder of the connective tissue that results in a variety of possible physical features and deformities. These can include defects of the heart valves and aorta.

It can also affect the lungs, eyes, the dural sac surrounding the spinal cord, the skeleton, and the hard palate. A family history is helpful but sometimes it doesn’t come until a family member dies of heart complications from Marfan syndrome. This is obviously the case in your family.

Genetic testing is one way to find out if someone has Marfan syndrome. But genetic testing is expensive and doctors have to identify who might have this disorder before sending anyone and everyone to the genetics expert.

And it gets more complicated than that because many children (people) have one or even more of the telltale characteristics of Marfan syndrome — but they don’t actually have this connective tissue disorder. And just as many folks who actually have the syndrome have invisible signs (like the heart problems) that could lead to their premature death.

This diagnostic dilemma is one that researchers are working on. Marfan syndrome is not a common problem so finding enough patients with a known diagnosis to use for comparison studies has been difficult. The good news is that your child has been identified and can get the medical care needed to prevent serious problems.