Marfan Awareness Month.

Community Member: Sally Ferguson.

 

Part of our ‘Community Voices’ Series.

At CTDNA, we believe there is power in sharing stories. Our Community Voices series, gives a platform to individuals living with heritable connective tissue disorders (HCTDs) to share their journeys, challenges, and triumphs in their own words.

Through these lived experience stories, we aim to build understanding, reduce isolation, and highlight the many different ways HCTDs can affect everyday life. Each voice is unique, and every story matters.

The February 2026 Community Voice is that of Sally Ferguson. 

February 2026 will see landmarks across Australia glow in a heartfelt red, shining a light on Marfan syndrome; a genetic and heritable connective tissue disorder (HCTD) affecting the body’s connective tissue. These illuminations aim not only to raise public awareness, but also to encourage earlier recognition and clearer pathways to timely, accurate diagnosis.

This Show of Heart for Marfan is a moment to remember loved ones, reflect on patient and family challenges, and acknowledge the anguish that can accompany life with a rare disease. It is also a time to embrace hope; the hope generated by extraordinary research advances, dedicated healthcare professionals, passionate advocates, and committed volunteers who collectively give so much to improve, extend, and save the lives of people impacted by Marfan syndrome.

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I was diagnosed with Marfan syndrome at a very young age in the 1960s due to the hallmark feature of bilateral dislocated lenses, which caused severe vision impairment. At the time, little was understood about the broader implications of the condition, and it was many years later that the full extent of my health challenges became clear.

Along the way, I faced numerous obstacles, including moments of discrimination. Yet these experiences shaped my resolve and redirected me toward alternative paths that brought meaning and fulfilment. When my vision impairment was cited as the reason for failing a fine art ceramics course at a prominent tertiary institution, I did not abandon my love of creativity. Art remained a vital outlet through set design, painting, sculpture, and pottery in my own studio.

I travelled through the UK, Europe, and South Africa before meeting my soulmate and settling into a deeply happy married life. Soon after our marriage, Marfan syndrome touched our family again when my husband’s nephew was diagnosed. My own physical characteristics helped prompt further investigation, and not long after, our daughter was also diagnosed. Marfan had firmly woven itself into the fabric of our family life.

Living with Marfan requires ongoing care from multiple specialists, as connective tissue supports every organ in the body. I also receive intravenous immunoglobulin infusions every four weeks to help manage complex inflammatory immune conditions, including vasculitis, interstitial lung disease, and axonal polyneuropathy, which cause pain, numbness, and balance issues.

We were fortunate to receive guidance from an expert geneticist who helped coordinate appropriate care and encouraged us to attend the Marfan Syndrome Centennial Symposium in Switzerland. There, I learned about groundbreaking research, evolving surgical techniques, and global collaboration, and met world-renowned clinicians and researchers whose work continues to transform outcomes. I established Marfan Association Victoria Inc in 2000 and was involved for many years.  Sadly, Marfan Victoria closed in 2021.

Our family has also known deep loss. We hold eternal love for our great-nephew Baylyn, who passed away in May 2024 at just six years old from severe early-onset Marfan syndrome. Despite immense medical challenges, his brave spirit and joyful personality left an enduring imprint on our hearts.

In 2025, joy returned with the birth of our grandchild, conceived through IVF with predictive genetic testing to reduce the risk of inheriting Marfan. Becoming a grandmother brought light during a year that also included four Marfan-related surgeries for me, including major open-heart surgery. Thanks to extraordinary surgical and clinical care, I continue to enjoy life with family and friends, while showing and sharing my heart and soul for Marfan to improve diagnosis and save lives.

Louise Barnes painted my portrait for her entry for the 2025 Archibald Prize, to raise awareness for Marfan Syndrome.  

Congratulations and sincere thanks to Connective Tissue Disorders Network Australia (CTDNA) for their commitment to building pathways that support education and recognition of heritable connective tissue disorders and improve understanding and care for all those affected.

Sally Ferguson, Victoria

If you would like to discuss sharing your journey and experiences of life impacted by HCTD please email us via hello@ctdna.org.au