Life Beyond Pathology: Marfan Syndrome

This blog is about a horrible disease and an amazing family. Unfortunately, it is far too short to do justice to either.  

One winter evening while I was attending college, I found myself vigorously knocking on the door of a kind, middle-aged lady. Everybody knew her as Mrs. C, and her son Liam was one of my housemates and closest friends. Liam had Marfan syndrome, which was the reason I desperately had to wake up Mrs. C that night.  

Anxiously I knocked again.  

The door was opened by a college student living in the house. Before she even got out a greeting I said, "Liam stopped breathing. They're taking him to the emergency room." She quickly disappeared down the hall and, two minutes later, I was driving Mrs. C to the hospital.  

Twenty minutes after knocking, I was sitting with Liam’s family and friends in the waiting room, hoping and praying that he would make it. 

One hour after knocking, I was standing by the bedside watching Liam’s mother sob uncontrollably as she held the hand of her dead son. 

I'm sure many of you are familiar with various diseases, and I expect some could share stories even sadder than mine. With that said, this post is not intended to serve as a lesson or a scare tactic. Instead, I hope that it serves as a reminder. 

The nature of a disease, especially as experienced by those suffering from it, can look far different than its pathology. Allow me to use Marfan as an example.  Long before I knew Marfan syndrome as a defect in the gene for fibrillin, I knew it as the reason my college friend didn't have a dad. 

When Liam was 8 years old, his father died unexpectedly from an unknown cause. Only afterwards did doctors recognize the characteristic traits of Marfan. Soon, both Liam and his younger sister were diagnosed with Marfan syndrome. I didn’t know Liam before college, and I can’t imagine what that experience was like. Although Liam’s family had many supportive friends and a loving church family, it was clear that the absence of a husband and father was difficult even when I knew them. 

As Liam and I became closer friends, it became clear how heavily the burden of Marfan weighed on his mind and his future. He didn’t live in significant physical pain, but he had an aortic aneurysm and understood that he might die suddenly in his youth. 

He chose to pursue a master's degree in psychology even though he knew that he may never live long enough to use it. He pursued relationships knowing that it would take a tremendous act of courage to date him, let alone marry him. He displayed a faith that seemed to provide him a level of peace in the face of death that is difficult to even describe or comprehend, but it was undeniable that the looming uncertainty of Marfan syndrome touched almost every aspect of his life. 

After Liam died, it began to hit me that the full impact of Marfan doesn't die with its victims. After the traumatic and unexpected loss of her husband, Mrs. C had to live with the reality that she may one day be forced to relive that experience with one of her own children. As I personally watched this terrible possibility become a reality, I did so knowing that she would be forced to face the possibility that it could all happen again. 

At the time of this writing, Mrs. C. has two young granddaughters who each have a 50% chance of having the disease. 

Physicians recognize Marfan as a connective tissue disorder resulting from a defect in the gene for fibrillin. It leads to a thin, lanky frame with long fingers, flat feet, pectus excavatum, aortic aneurysms, etc… These details are crucially important, and as a future physician I must understand the pathology and recognize the symptoms. However, I must also recognize that defects in the fibrillin gene have many other potential side effects: the sudden loss of a spouse, a childhood without a parent, the pain of outliving your kids, and a looming uncertainty about when the disease will once again rear it’s ugly head and turn your world upside down. 

“Patients don’t live with the causes of a disease as much as they live with the impacts, and the two can be very different. ”

As I said at the beginning, I want this post to serve as a reminder. Patients don't live with the causes of a disease as much as they live with the impacts, and the two can be very different. 

If we want to provide the best care possible to our patients, we would do well to learn both. 

Greg Doornick

Osteopathic Medical Student - 2nd year (OMS II)
College of Osteopathic Medicine
Pacific Northwest University of Health Sciences