Genetic Testing

Todd had been diagnosed with Marfan syndrome in his childhood by one of his doctors. 30 years ago, the life expectancy for a person with Marfan syndrome was somewhere in their 30's. Today, with the proper preventative care and regular monitoring by doctors, a person with Marfan syndrome can live into their 70's.

We knew that we wanted to have genetic testing for Marfan's done on Michael when he was born. First, Todd had to get the testing done as well so that the specific gene mutation could be identified. His results took a little bit longer than expected as the testing was done at Tulane University.

We didn't have any testing done before Michael was born. Because Marfan syndrome affects all genes in the body, there is no way to cure it at this time. We would gain nothing by knowing ahead of time if Michael was positive for the mutation. My doctor took the cord blood after Michael was born and sent that off to Tulane. His sample was compared to Todd's. The diagnosis was completed fairly quick as they knew exactly where to look for the change in the fibrillin gene.

Todd and I found out when Michael was less than 2 weeks old that he was positive for Marfan syndrome. We already suspected that he had it, mainly from looking at him after he was born. He had long fingers and toes. He was only 20 1/4 inches tall but looked long. His limbs were extended almost from the time he was born. The pediatrician who saw Michael in the hospital belonged to the same practice that Todd went to as a child. He remembered seeing Todd a few times in his teen years and knew that Michael was his son and thought that he had Marfan syndrome.

For me, it was a relief to know the diagnosis. That way, we could start to get Michael the treatment that he needed as early as possible. Within his first year of life, he saw the opthalmologist, cardiologist, and a genetic counselor. I guess I just always prepared myself for the worst and assumed that he would test positive for Marfan syndrome. I tend to be a bit of a pessimist at times but hoped I would be wrong in this case. Either way, I knew that Todd and I would be able to handle the outcome!