Marfan Europe Network: Together we can!

Abstract

First described in the 19th century, Marfan syndrome is a rare hereditable genetic disease, mainly caused by mutations in FBN1 leading to connective tissue defects. While the patient phenotype is highly variable, many affected present with tall stature, long and flexible limbs and joints, eye disorders, and life-threatening aortic enlargements. Modern medical treatments can alleviate these symptoms, but it is important for people living with connective tissue disorders to learn about their situation and connect with others facing the same challenges. The Marfan Europe Network (M.E.N.) is an umbrella organization of 14 national Marfan patient organizations, integrating efforts to inform the public and improve the lives of those affected. Here, we interview Tuija Ekegren, Françoise Steinbach, and Margit Aschenbrenner from the Board of Directors of the M.E.N.