Connecting the dots and making sense of a set of symptoms. As Zaira describes, it’s so important that this is done earlier rather than later with a diagnosis of Marfan syndrome.

Growing up, I endured joint pain, scoliosis, and a heart murmur, hinting at Marfan syndrome. Yet, no one connected the dots. 

At 18, post-birth complications led me to a Gastroenterologist, baby in tow. During the visit, the doctor noticed our long fingers, toes, and slim frames, prompting Marfan-related tests. Confused but compliant, I followed along. 

We were referred to Stanford, where both my son and I received the Marfan diagnosis, revealing a genetic mutation. Since then, genetic testing confirmed my youngest son’s Marfan status, despite lacking typical features. Grateful for clarity, our journey underscores the importance of awareness and advocacy for early detection and proper care. 

Marfan Trust, a CIO registered as a charity in England in Wales with charity number 1198847 at: c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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