Jeanette shares her first-person experiences in this post. Please note: this story discusses loss of life.
My journey with Marfan syndrome has been challenging and has shown me that I am stronger than I could have ever imagined.
My story really begins with my beautiful sister, Stephanie, who passed away in February 2024 at just 45 years old. As a child, she faced a lifetime of unexplained health struggles. Despite having many classic signs of Marfan syndrome, she went undiagnosed for most of her life. It wasn’t until after surviving an aortic dissection in 2016 that doctors first suspected Marfan syndrome. Genetic testing eventually confirmed it.
We were grateful to have more years with her after that diagnosis, but they were not easy years. She faced countless challenges, surgeries involving her aorta, lungs, and more — yet she fought every battle with determination and hope. Always wanting to take control of her health, she ultimately chose to undergo elective aortic replacement in 2023 so she could finally live without fear. Tragically, her body was tired, and she didn’t survive long after the surgery.
During those years, Stephanie devoted so much of her energy to learning about Marfan syndrome. She constantly encouraged my family and me to get tested, but we brushed it off. We were focused on getting her better, and I didn’t have the same symptoms she did. I was active, played sports, and felt healthy, so I was certain I was fine.
A few months after she passed, I kept my promise to her and finally got tested. To my shock, doctors found a large aneurysm. Within weeks, I was preparing for my own open‑heart surgery. Genetic testing later confirmed what I never expected: I, too, had Marfan syndrome.
I then urged my mother to get tested. By July, she was also undergoing the very same surgery.
In just six months, I lost my sister, had open‑heart surgery, and cared for my mother after her [open-heart surgery]. It was overwhelming, surreal, and heartbreaking, but I also know that my sister saved our lives. Her persistence, her love, and her dedication to spreading awareness gave us the chance she never had.
Today, my mom and I are healthy and living full, normal lives. Every day we carry Stephanie’s memory with us. Sharing our story, raising awareness, and supporting the Marfan Foundation feels like the most meaningful way to honor her legacy.
Living with Marfan syndrome after surgery has been mentally and emotionally challenging but knowing the signs and having had elective surgery gives us tremendous peace. We’ve been blessed with incredible doctors and make sure to keep up with our regular checkups. The support of our friends and family has carried us through every struggle and helped us celebrate every victory.
I still have good days and bad days, and our lives are forever changed, but we continue to keep my sister’s spirit alive in everything we do. She deserved to be diagnosed earlier, and she deserves to be remembered. If our story helps even one family diagnose Marfan syndrome sooner, then her legacy continues to make a difference.
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes. Our vision is a world in which everyone with genetic aortic and vascular conditions can live their best life.