In a cluttered world of competing causes and general ‘noise’, awareness can be stretched and diluted. Medical conditions are constantly vying for a spot in the public consciousness. Marfan syndrome (MFS) as an unusual condition comes low in the hierarchy. Yet, as a connective tissue disorder, awareness is the critical connecting link that will save lives. It is an illness that often hides in plain sight, with a ticking time bomb lurking unseen requiring urgent intervention. With this in mind, we are on a quest to find the Missing 15,000 Marfan folk living knowingly and unknowingly with the condition. Help us to Save Lives.

Marfan syndrome affects 1 in 3,000 people. It is therefore classified an ‘unusual illness’. With only 3,000 patients in our Marfan community known to the Trust, this means there are 15,000 more affected and unaccounted for in the United Kingdom.

Marfan syndrome is not immediately visible. While it usually manifests in height supremacy (a study of tallness in Marfan people found their mean height was above the 95 percentile for the general population by their third birthday) symptoms and characteristics vary from patient to patient. The often-felt debilitating pain is invisible as is, more dangerously, the ballooning aorta that goes too frequently unnoticed. Only recently a mother approached our helpline to report that her teenage son had died suddenly of an aortic dissection. Posthumously diagnosed with Marfan syndrome, it seems that the signs of the condition were there all along during her son’s short but full and happy life. Left undiagnosed for 19 years, an otherwise healthy young boy needlessly died. All features of Marfan syndrome are now treatable, and the average life expectancy has risen into the normal range.

When first presented with a Marfan syndrome patient early in her career, Dr Child felt impotent to explain why it had happened. Years later, in 1988, she formed the International Marfan Consortium that identified the gene mutation causing Marfan syndrome, permitting family screening of this inherited disorder for the first time. This is now an internationally used standard diagnostic tool. The gene can mutate in more 3,000 different ways affecting the eyes, heart and skeleton. As an autosomal dominant condition there is a 50% chance it will be passed on, appearing with different levels of severity throughout the family. Our research laboratory is now investigating how to predict the severity of Marfan Syndrome and therefore guide how patients can better manage their treatment.

The Marfan Trust has supported 22 centres across the country, spreading the word and much-needed awareness far and wide. But the word must be spread further. To achieve a referral to one of these centres assumes an underlying knowledge of the condition and what to watch out for. A strange murmur can alert a GP to a floppy mitral valve. But the GP must be attuned to the sound of such a murmur. And the physical characteristics of MFS – long, slender feet and dislocated lenses – can be picked up in the daily run of life from visits to shoe shops and opticians.  But these places must be alert to the signs. From Boots and Clarks to GP surgeries and schools, the opportunities to spot this rare condition are everywhere. But awareness is key. Marfan syndrome is characterised by the absence of fibrillin - the glue that holds the body together - while awareness provides that critical link that can save lives.

Additional Resources

From the Heart: Victoria speaks to Consultant Cardiac Surgeon, Professor John Pepper, and Consultant Cardiologist, Professor Graham Stuart. 

Christopher’s Story: Marfan Awareness Month - This is the story of Christopher whose Marfan syndrome was captured at an early age, allowing him to claim his condition.

In Good Company - Marfan syndrome is writ large on the cinema screen, and lurks behind the sensational sounds of Broadway - here are three notable names.

'Awareness Saves Lives: Wayne & Lewis' Story' - This is the story of Wayne and Lewis - of a life lost and a life shaped by Marfan syndrome.

Lost in Translation - Marfan Encyclopaedia: This article elucidates, delineates and celebrates marfanoid medicalise in a comprehensive list!

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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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