Don’t Cry For My Large Aorta
J. C. Hathaway
Paper of Definition
“This won’t be easy; you’ll think it’s strange when I try to explain how I feel,” that Marfan Syndrome is not fun. In fact, life with Marfan is a life of pain and torment caused by a defect in a single, little gene, located on the fifteenth chromosome, which is responsible for supplying the connective tissues with fibrillin, a protein necessary in the development of connective tissues. As Marfans grow, their connective tissues become elongated due to a lack of strong fibers. This weakness is a slow decay of the entire body, although the major trademarks of Marfan are its effects on the eyes, skeleton and heart.°
The most obvious effect of Marfan Syndrome to “normal” humans is found in the multiple eye problems which stem from the disorder. Marfans tend to be nearsighted; dislocated lenses turn the world into a frightening blur of indistinct images, inaccurate distances, and unidentified personages. I was legally blind as a child, and my greatest fear is that I will end up in total darkness from retinal detachment.“
An early sign which can be detected before anything else is the malformation of bones. Marfans can be distinguished by their disproportionately long limbs and digits. Often, the result of weaker bones is a series of deformities in the ribs, spine and legs. Lose joints make maneuvering difficult; arthritis makes moving painful. Teen-agers with Marfan Syndrome are put in difficulty from scoliosis. This curvature of the spine can be corrected if necessary, bur the result is several months in a body cast. The pain from these weak joints, dislocations and myriad malformities is easy to handle when compared to the ultimate danger.–
Just as the bones get longer and weaker, the muscles and valves of the heart are stretched out to the point that blood isn’t pumped out, and the entire metabolism is disrupted. The growth of the aorta, the principal artery of the human body, often results in leakage, aneurysm, and death if not corrected by surgery (which only prolongs the problem). As the chambers and vessels get weaker from natural growth, the extra blood that collects pushes them even further. The pressure makes Marfans tire easily, gives them constant pain, and hangs a burden of death on their lives that only people with terminal illnesses can fully comprehend.
Here I am, then, writing this paper, trying to give a clear, objective definition to the agony which I face every day. This pen is difficult to hold because my fingers are too long and weak. Every now and then, the images blur from a number of factors. The problems are plenty, but the solutions are few.
(Quotes in title and opening paragraph taken from Tim Rice’s lyrics to “Don’t Cry For Me, Argentina,” in the Andrew Lloyd Webber opera