Editor’s Note: We are so pleased to continue introducing new voices into the Ambry patient blog. This week we are honored to have Jon Rodis, patient advocate, tell us what it was like to be diagnosed with Marfan syndrome, an inherited condition that can cause heart problems, many years ago – well before genetic testing became available for it. Here is Part 1 of 2 of his story.

“Marfan syndrome is a progressive, incurable, genetic disorder of the connective tissue, frequently characterized by tall stature, long limbs and fingers, scoliosis, complications and subluxation of the lenses. The greatest threat to life is from the cardiovascular deterioration which causes aneurysms. The associated orthopedic and ophthalmological problems can cause severe handicapping including loss of mobility, chronic and debilitating pain and blindness. Medical reporting lags behind the reality of the severe manifestations of Marfan syndrome. It is only in the last few years that attention has been directed to this disorder. At this time, there is no therapy or treatment to lessen deteriorating muscular and skeletal degeneration.” – Excerpts from “Marfan Syndrome: A Hard Look” by The Marfan Foundation, found at http://www.jrmarfan58.com/   

Considering I was born in 1958, the fact that I received a diagnosis of Marfan syndrome at the age of 8 is pretty much a miracle, given what was known about the condition at the time.

My family doctor suspected I had some kind of genetic disorder from observing my long legs, short torso, long arms and fingers, sunken chest, heart murmur, scoliosis and nearsightedness. He asked my mother if would be okay to send me to an orthopedic surgeon he knew at Children’s Hospital in Boston to evaluate me. I will never forget that visit. The orthopedic surgeon was very kind and thorough in his examination. After he was done, he asked my mother if it would be okay for him to refer me to an ophthalmologist to also evaluate me. He put my mother at ease by saying that he wanted to make sure that I received the best care and the most importantly, the proper diagnosis. It was at the ophthalmology appointment that my mother and I first heard the words: “Marfan syndrome.”

Since not much was known about Marfan syndrome at the time, my family doctor, orthopedic surgeon and ophthalmologist followed me – but not a cardiologist, which is more typical today. It wasn’t until 1981 (when I was 22 years old) when I had an appendicitis attack that my having Marfan syndrome was considered, and a cardiologist was consulted. Even so, not much was known as far as treatment. After I had my surgery, I was sent on my way.

Several years later in July of 1990, many of the ER doctors of a large Boston hospital and I had a wake-up call about Marfan syndrome and the dangers and variability that it brings. I had just returned from a trip to Montréal and felt as if something was terribly wrong. I knew I had to get to the ER as soon as possible to let them know I had Marfan syndrome. None of the testing that was done (including blood work and a chest x-ray) showed signs of major heart issues. However, because I had Marfan syndrome, they decided to evaluate further by performing an echocardiogram and a transesophageal echocardiogram. After these tests were done, they found that I had an extremely dilated (widened) aortic root measuring approximately 8cm. (This is a life-threatening heart complication that can happen in those with Marfan syndrome, and a big reason to regularly see a cardiologist).

Every minute counted. I underwent an urgent Bentall procedure, with placement of the entire ascending aorta to the origin of the subclavian artery. Despite not having any pain in my back or chest, my aorta was literally dissecting right then and there – and if it not were for the additional testing done because of my diagnosis and immediate action/surgery the surgical staff took, I would not be here today.

Through the hard work of organizations such as the American Heart Association and The Marfan Foundation (and their many dedicated volunteers), we have come a long way over the years to improve awareness and quality of care for so many people and families affected by inherited cardiac issues. I’m pleased to be sharing my story through this blog, and hope it continues to raise awareness.

For more information about Marfan syndrome, please visit Ambry's website for families with inherited heart disease here.