Every beat counts
This week, instead of spewing out about another breakthrough in cardiac research, I’d like to take a more personal twist. But first, a little background.
Ehlers Danlos syndrome is a very rare group of genetic disorders, only seen in about 1 in every 250,000 people. This disease is typically known for making people’s skin more elastic, to the point where they can stretch it to bizarre lengths, making for a very entertaining talk show topic. However, a specific branch of this disorder called Vascular Ehlers Danlos is not quite as comical. It affects the arteries within the thorax, namely the aorta, common carotid, and common iliac arteries, all of which are vital for survival. Most of the victims of this syndrome experience aortic dissection, in which their main artery splits open, causing death within a matter of minutes. To make matters worse, this particular subcategory of Ehlers Danlos is autosomal dominant, meaning that the child of a VED patient has a 50% chance of inheriting its lethal effects.
Today I was at work, shadowing a cardiologist, when we came into the room of his next patient. She was 55, in a wheelchair, and had a glint of tragedy in her eyes. As the consult developed, I learned that she had been diagnosed with VED when she was 35. Since then she’s had 6 open heart surgeries, over time replacing her entire thoracic arterial system with manmade stents. In other words, every artery from her neck to her hips has been switched out for synthetic vessel to keep her blood flow in tact. This disease has taken her mother, both brothers, two of her sons, and now her grandchild has been diagnosed. Learning this was absolutely heartbreaking — to even attempt to imagine the loss this woman has endured due to this disease is impossible. But there was something she said that has been haunting me all day, “my life has been a never ending cycle of putting out fires, but triumph after triumph, I’m still here.”
That quote alone represents the motivation behind every pharmaceutical study, every trial, every small medical advancement and even every failed attempt that composes clinical research. It is the very basis of why people strive to find new medications or develop new surgical techniques: to better the lives of people who have been dealt vast biological misfortune. This woman’s life by all means sounds like a tragic story, but she’s still alive today. She can still babysit her grandchildren, visit her 2 daughters, and have dinner with her husband. She’s lived 20 years past her predicted expiration date and that is all thanks to the dedication of medical researchers who sought to better the masses.
Today was a day of inspiration, a day of motivation to continue pursuing clinical research. Today was proof that medicine has the power to bring hope to the truly hopeless.
