The day will come when all medical professionals know about vEDS

Posted July 9, 2019

I’m 66 years old and have vascular Ehlers-Danlos syndrome. Anyone familiar with this EDS type understands how blessed I am as the median life expectancy is 48 years.

My vEDS life began 22 years ago, although I didn’t know it at the time. On Christmas Eve in 1996 I began having abdominal pain around 6:00pm. I assumed it was from too many Christmas Eve goodies I had eaten throughout the day. The pain continued to worsen and around 8:00pm I called my doctor. He said it sounded like the flu, but suggested I go to the hospital as a precaution. As the pain was becoming unbearable, I went to the emergency room at my local hospital and was diagnosed with a ruptured abdominal aortic aneurysm, commonly known in the medical field as a triple A (AAA). This hospital was not equipped to handle the necessary emergency surgery, so I was rushed to a major hospital in Boston. As they were getting me into the ambulance, I vividly remember the emergency room doctor saying to my wife “IF he makes it to Boston, he will go immediately into surgery.” I didn’t know it at the time, but the mortality rate of a ruptured AAA was 90%, meaning that only 10% survive. It was my good fortune that one of the preeminent vascular surgeons in the country was on call that night and he successfully repaired the AAA in a 6 hour open surgery. I truly beat the odds that night.

Twenty two years, 3 more abdominal aortic aneurysms, 3 more surgeries and one aortic dissection later, my vascular surgeon scheduled an appointment for me with a geneticist. She ordered genetic testing on 17 genes to determine the cause of my issues. After 4 weeks of anxious anticipation, I received a call from my geneticist informing me that I had Ehlers-Danlos syndrome. Having never heard of EDS, I met with my geneticist for a thorough review of the test results. She explained that EDS is a connective tissue disorder that affects everyone differently. The vascular version is one of the rarer types. It is a mutation of the COL3A1 gene which causes a weakness in Type III collagen that is critical to the strength of blood vessels and intestines.

As I’ve heard from many fellow zebras, this diagnosis was both a blessing and a curse. The blessing is that it explained many things that had occurred earlier in my life: very prominent veins; varicose veins in my early 20’s; bruising for no reason; needing more Novocain than normal for dental work and stitches, although my childhood dentist would not give me extra Novocain and getting fillings was very painful. He said I had a low tolerance for pain. The true blessing is that I know how lucky I am to be alive. I feel like my life is a pinball game and I have won extra playing time.

The curse is that I now wake up every day wondering if I’ll have another issue and if this will be my last day.

Earlier this year I had a cough that I couldn’t stop. I was coughing very hard and suddenly had a severe pain in my abdomen. I went to the hospital and found that I had ruptured an artery in my abdomen that caused a serious and painful hematoma. My EDS is always on my mind.

I’ve learned so much about EDS in the past 2 ½ years and find that I’m not only educating myself, but many in the medical profession who do not know about EDS, particularly vEDS. When they see the medications I take, they assume I have a heart condition or hypertension. The good news is that they take it seriously and do their research. I will continue to be an advocate and educator for and about EDS and hopefully the day will come when all in the medical profession are aware of our plight.

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