After Michael J. Fox was diagnosed with Parkinson’s, I casually commented that the Marfan community needed a celebrity of its own to make Marfan syndrome something everyone had heard about. I was wishing for a world where my rare disorder didn’t seem so rare—or as disordered as it felt sometimes.
Medicine is constantly changing, and often faster than doctors can keep up. Your doctor has to periodically update her knowledge, but she also has to see hundreds of patients a week, which means she could be a little behind the times regarding new advances or the details of all illnesses and syndromes.
In early January 1985, Dr. Reed Pyeritz, of Johns Hopkins Hospital in Baltimore confirmed, through body measurements and imaging tests, my wife, Paula’s, very recent suspicion that she had Marfan syndrome. Paula was thirty-three years old and had been seeing doctors for a heart condition since she was nine years old.
Marfan syndrome can affect many parts of the body, but the most serious feature of the disorder is a cardiac condition called aortic dissection (tearing of the walls of the aorta) most commonly preceded by aortic enlargement. Left unchecked, this condition can be life-threatening.
When we wish others a healthy and happy new year, we do not say those words lightly. In many cases, we cherish well-being for ourselves and others because we know what it’s like when we don’t have our good health.