Recognizing February as National Marfan Awareness Monthby Representative Steve Israel
Posted on 2015-02-24
of new york
in the house of representatives
Tuesday, February 24, 2015
Mr. ISRAEL. Mr. Speaker, I rise today to recognize February as
National Marfan Awareness Month with the hope that increased awareness
of Marfan syndrome and related heritable connective tissue disorders
will save lives.
Raising awareness of Marfan syndrome, a rare genetic condition affecting 1 in 5,000 Americans, is imperative to finding and funding effective treatment. This debilitating condition affects individuals both externally and internally.
Connective tissue, as a result of the overproduction of a protein called transforming growth factor beta (TGFB), is affected and therefore symptoms manifest throughout the entire body, causing disproportionately long limbs, a protruding or indented chest bone, curved spine, and loose joints.
Understanding the signs and features of Marfan syndrome are important and can save lives. This condition can affect all aspects of a person's internal structures, most notably their cardiovascular system. Often times, the aorta, the larger artery that carries blood away from the heart, is weakened and prone to enlargement and potential rupture. Because of the excess TGFB, Marfan patients are also at risk of aortic aneurysm.
However, early diagnosis and treatment can help to prevent cardiac events. For this reason, I believe States should consider developing programs to include Marfan syndrome testing in their sports screening criteria for at-risk young athletes.
I am proud to represent the Marfan Foundation, the leading organization working to support the Marfan community, based in Port Washington, New York. Since the group's inception, the Foundation has worked tirelessly to improve the lives of those affected by this condition through advancing research, raising awareness, and providing support over the past two decades. Through their efforts, patient care has improved and lives have been saved.
I urge my colleagues to stand with me to recognize National Marfan Awareness Month and reflect on the progress that has been made as well as the work that remains in order to ensure that those suffering from rare conditions can expect to see improvements in their health and healthcare.