Story by Sara Paul
Three days after my wedding, I sat in New York University (NYU) Langone’s massive lobby waiting for my husband to come out of critical open heart surgery. Three months after our beautiful daughter was born, I sat in that same midtown lobby, this time waiting to hear if my 37-year-old husband would live or die.
As unlucky as I felt I and my family were, I knew that we were lucky. Brian had been diagnosed with Marfan Syndrome in his teens and due to that late but definitive medical report, doctors could prescribe him appropriate medication and closely and consistently monitor the inevitable growth of his aorta. Brian’s sister, father, uncle, and many others with undiagnosed Marfan Syndrome, were not as lucky, as 40 years of age is the average life span for those not treated.
According to the Marfan Foundation website, there are some physical signs to look for, such as long arms, legs and fingers, tall and thin body type, curved spine, chest sinks in or sticks out, flexible joints, flat feet, crowded teeth, and stretch marks on the skin that are not related to weight gain or loss.
“Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features,” the Foundation reports.
This February, always the month designated as Marfan Awareness Month, I am grateful to have my husband, now 43, and my daughter Jane, 7, who also carries the Marfan gene, happy and healthy by my side. I am grateful for the care they receive from incredible doctors at NYU and beyond, for the miracle drugs that help to stabilize the growth of the aorta, and for the support of the Marfan Foundation.
Marfan Syndrome is almost always fatal if undetected, and so I urge everyone to visit the Marfan Foundation website and learn about this disorder. Certainly, donations to the Foundation, which promotes education, awareness, and support, are appreciated, but what matters most is knowledge. Please consider both.
Learn more at www.marfan.org, and if you or someone you know is affected by Marfan Syndrome, send an email to firstname.lastname@example.org.
Thus., Feb. 28 is also Rare Disease Day. For more information visit https://www.rarediseaseday.org/article/about-rare-disease-day.