KAPLAN - At the 2008 Summer Olympics in Beijing, Michael Phelps astounded the world and honored our nation by bringing home eight gold medals with his expertise in swimming.
The nation grabbed on to Phelps and followed his after-game journey as he brought much needed awareness to Attention Deficit Hyper-Active Disorder by sharing his own experiences.
Recently, Phelps has inadvertently brought awareness to a lesser known disorder, Marfan Syndrome, by mentioning his connection to the disease in his autobiography.
Marfan Syndrome is a disease that I had no knowledge of until about a month ago. I was at Shriner’s Hospital in Shreveport with my six-year-old son Noah. We were seeking treatment for his scoliosis, when a physician’s assistant asked us if we had ever had Noah screened for Marfan Syndrome.
Upon learning of our ignorance on the topic, she produced a printout giving a summary of the disorder, its symptoms and treatment options.
Truth be told, I did not read the entire document; In fact, I couldn’t get past the first line which read: Marfan Syndrome is a disorder of the connective tissue that can be potentially life-threatening.
For a mother, the term “life threatening” – whether it is potentially or not – when used in conjunction with their child is a fear so profound.
I didn’t know how to respond, other than to immediately schedule a follow up appointment with his pediatrician.
When I returned home that night, I began a feverish search for any and all information related to the disorder, and what I found out was astounding.
Marfan Syndrome was first discovered in 1896, yet every year many people die from the disease without ever being diagnosed.
It is a disorder of the connective tissues which hold our bodies together.
It is a progressive disease, one which is rarely diagnosed until after the age of puberty, and one in which the real threat lies in the fact that it weakens the aortic valve and the lungs.
The Rent playwright Jonathan Larson and the captain of the 1984 Olympic women’s volleyball team Flo Hyman both died unexpectedly in their early thirties from complications of the disease which neither even knew they had.
The diagnosis for Marfan is tricky, especially in families with no confirmed prior cases, and there are over thirty characteristics that doctors look for.
The symptoms can range from mild to severe and some many never even show up at all. One of the hardest things about Marfan Syndrome is that a person displaying any of the following symptoms are often initially misdiagnosed as having something else.
Indications of Marfan include: scoliosis, rapid growth, a wing span (measured from outstretched finger tip to finger tip) that is longer than one’s height, disproportionally long extremities (such as fingers, toes, arms, and legs), a long narrow face, arched roof of mouth, protruded or indented breastbone, dislocation of eye lense(s), heart murmur, aortic dilation, Dural Ectasia, unusual stretch marks, snoring, and sleep apnea.
Many people with undiagnosed cases of Marfan are often encouraged to participate in sports because of the advantage their height offers. This can be dangerous, especially after the stage of puberty when the risk of aortic dissection increases.
People with Marfan should be closely observed under the care of their physician if they choose to continue rigorous activities.
Today, Marfan is no longer a death sentence if it is caught early. Thanks to modern medicine and technological advances, Marfan sufferers can expect a life expectancy similar to that of an average person.
Currently, Noah only possesses a few of the characteristics which are not enough to neither confirm nor deny a diagnosis.
Like Michael Phelps, Noah will continue to be screened annually for further
Whether Noah has this disorder or not, one thing remains for certain, we are grateful to have been made aware of the possibility of Marfan at such an early age.
Other famous people with Marfan Syndrome include Joey Ramone from the band The Ramones, the actor Vincent Schiavelli, and college basketball star Chris Patton.
Historical figures that are thought to have suffered from Marfan include Abraham Lincoln, Julius Caesar, and even Pharaoh Amenhotep IV (Akhenaten), father of King Tut.
For more information on Marfan Syndrome, please visit their website at www.marfan.org.