A fantastic group of friends - Andy, Daniel, Julian, Kate, Marc-Alain, Michael, Mitul, Richard, Rob and Simon - have got together to ride London to Brighton this year in order to raise funds for the Marfan Trust.

Marfan Syndrome (and other related connective tissue disorders) is a little known, but severe and life-threatening disorder. In the UK around 18,000 people are thought to suffer from Marfan Syndrome and many of those are undiagnosed. Implications of Marfan vary from family to family but can include blindness, spinal curvature requiring surgery, lung disease and sudden cardiac death due to aortic dissection.

Daniel's story:

My own family was unaware of Marfan Syndrome until 1990 when my mother suffered a sudden aortic dissection (a partial split in the main artery carrying blood from the heart). In the surgery that followed she received an artificial, mechanical heart valve and part of her aorta was replaced by a dacron tube.

After her diagnisis I too was diagnosed and have been actively monitored ever since. In 1999 his mother died from an aortic rupture caused by her condition.

Since the original diagnosis genetic testing has shown that I don't have Marfan Syndrome itself, but most likely one of the related disorders called Loeys-Dietz Syndrome

In our family the key consequence of Loeys-Dietz is its effect on the heart and arterial system. In particular the aorta can expand and stretch until it thins and potentially splits.

The year after my mother died I had preventative open heart surgery to replace my aorta with one made from dacron and, in what was then a fairly rare procedure, to re-suspend my own heart valve in the new plastic artery. Since then I have been regularly monitored both by the Royal Brompton Hospital (where I had my surgery) and the Marfan Trust.

I have been lucky enough to be diagnosed in good time that I can be effectively monitored and treated. However, there is much more to be done to better understand the condition and potential treatments. Marfan Trust is the only charity in the UK funding it's own laboratory undertaking medical and analytical research into Marfan Syndrome and other related connective tissue disorders such as Loeys-Dietz.

Do you want to join us in making a difference? The money we raise will go to the Trust and every donation will help. Thank you in advance for your contribution.

You can learn about the Trust and their work here: https://www.marfantrust.org/

A wonderful interview on The Life Scientific with Dr Anne Child, geneticist and Medical Director of the Marfan Trust is available on BBC Sounds: https://www.bbc.co.uk/sounds/play/m0020qjj