Marfan syndrome is an inherited disorder that affects the connective tissues, which hold the body together and are involved in growth. Marfan syndrome can also affect the heart and blood vessels, bones, cartilege and ligaments, eyes, lungs, and skin. According to Janis Cortese , it’s also “a big pain in the ass.”
Named after Antoine Marfan , the French pediatrician who first described the condition in 1896, Marfan syndrome affects an estimated 1 in 5000 people. It is inherited in a dominant manner: if one parent has Marfan syndrome, each child has a 1 in 2 (or 50%) chance of inheriting it, too.
With today’s early diagnosis and better medical and surgical treatments, people with Marfan syndrome are living longer and healthier lives, with fewer and less severe complications. Interestingly, along with longer life spans come new issues of aging with this chronic and progressive condition.
Read More: Practical and detailed info about life and issues surrounding Marfan Syndrome
* Interesting note: Clinical discoveries take time. They don’t happen overnight. On May 8, NPR reported on the promise of the blood pressure drug, Losartan to treat Marfan syndrome, spotlighting a boy named Blake Althaus. Two years earlier, in April 2006, NPR reported on promising mouse research, which led the way for human clinical trial later that year that Blake is participating in. At that time, Dr. Hal Dietz of Johns Hopkins said, “The effect in the mice was so dramatic that it’s led to some degree of optimism that this will translate to people.” Today, Dietz “cautions patients that the drug might not work for everyone and that he doesn’t think it will fix everything. But at the same time, things look promising…. He tells his patients that the trial is the only way they can really see what the drug does, find the right dose and identify any side effects.”