The Doctor Who Joined the Dots

It sometimes takes an outsider to see a situation with clarity and so it was for Lucy when a new doctor arrived on the scene and quietly joined the dots, linking her long fingers, wide arm span, curved back etc into a unified diagnosis.

by Lucy

My Marfan syndrome diagnosis was unexpected and happened quite quickly. Although I faced numerous health issues as a child, learning about my serious, potentially life-threatening condition was still a shock. I can't help but wonder if my diagnosis would've been missed had I not crossed paths with that one particular doctor who connected the dots. As I reflect on my experience, I'm eager to share my story through this blog.

On a seemingly ordinary day at the hospital, a surprising turn of events unfolded. I was anticipating a routine check-up with my usual consultant, but instead, I was met by a female doctor who was filling in for him. She explained that she'd been studying my medical history and had a few questions. The examination ensued, as she meticulously assessed my joints, feet, hands, and back. Little did I know, this unforeseen encounter would prove to be life-changing. As the examination continued, the doctor peered into my mouth and noted that I had a high-arched palate and crowded teeth. She proceeded to measure my height and arm span, casually mentioning that my arms were longer than my height. At 15 years old, I couldn't grasp the significance of these observations, but the doctor's manner suggested that they held some importance. My mother was with me, but we were both in the dark about what any of this meant or what was to come.

After the physical examination, the doctor asked me to take a seat, as she inquired if either my mother or I had ever heard of Marfan syndrome. We both responded with a resounding "no," as we were unaware of such a condition. While we were used to dealing with my health issues, no one had ever provided a concrete diagnosis. Then, with directness, the doctor bluntly revealed her belief that I had Marfan syndrome—a rare and potentially life-threatening disease. In an instant, we were faced with a new daunting reality.

The news hit me hard and fast, leaving me with little time to process the significance of the situation. Without hesitation, the doctor sent me straight to the cardiology clinic for an immediate check-up. Her bluntness about the potential risks of Marfan syndrome left me reeling—she didn't mince her words as she emphasised the seriousness of the condition, her voice echoing in my mind to this day. "Life-threatening disease" and "serious condition" were phrases that haunted me for many years.

I soon realized that my journey with Marfan syndrome had only just begun. The initial diagnosis, although shocking, was only the tip of the iceberg. As time passed, It became increasingly evident that this complex condition would play a significant role in shaping the trajectory of my life. With every new discovery, I realized that living with Marfan syndrome meant constantly adapting to an evolving reality.