“By my calculations, there are 9,000 people in the UK who are unaware that they have Marfan Syndrome – if left undetected up to 1/3 of whom may not live beyond adulthood.”
Dr. Anne Child, Medical Director of The Marfan TrustThe official figures show that 1:5,000 people potentially have Marfan Syndrome, yet through the incredible work of The Marfan Trust, led by their Medical Director Dr. Anne Childs, it has become apparent that these statistics are inaccurate.Dr Anne Child St. Georges Hospital
The actual figure is believed to be 1:3,000 people, which means that in the UK alone, there are potentially 9,000 who are unaware that they have Marfan Syndrome.
Although Marfan Syndrome is hereditary, 25% of new cases do NOT have any immediate family connections – and it is these people who are most at risk.
This is the exact situation Lucy Morris was in and why it took so long to diagnose her. There will be other girls and boys (as well as adults) throughout the UK in exactly the same situation as Lucy – we have to do as much as we can to connect these individuals with The Marfan Trust.
The hidden dangers of Marfan Syndrome
Marfan Syndrome has several ‘visual’ symptoms (detailed below), which can be extremely helpful in helping to identify those who may be at risk.
However, the real dangers of Marfan Syndrome cannot be seen and are often undetected.
The main reason The Marfan Trust need to identify those at risk is because they may have an enlarged aorta, which is the main blood vessel that carries blood from the heart (aortic dilation).
If left untreated this can lead to fatal heart conditions.
People with Marfan Syndrome often state that they had no prior symptoms to help them identify that they had a heart condition. Lucy, who inspired the Driven at Heart Challenge, had felt ‘fluttering’ in her heart, but thought that was just normal.
This is why it is so important to know the following (more visual) symptoms…
Some of the most common and easily to spot symptoms are the following:
Bones and Joints (Skeletal system)
- Long arms and legs
- Tall and thin body type
- Curvature of the spine (scoliosis or kyphosis)
- Chest sinks in (pectus excavatum) or sticks out/pigeon breast (pectus carinatum)
- Long, thin fingers
- Flexible joints
- Flat feet
- Teeth that are too crowded
Eyes (Ocular system)
- Severe nearsightedness (myopia)
- Dislocated lens of the eye
- Detached retina
- Early glaucoma
- Early cataracts
- Other Body Systems
Stretch marks on the skin, not explained by pregnancy or weight gain
Do I have Marfan Syndrome if I have any of the above characteristics?
No – it simply means that you could be at risk.
The important thing to do is get tested for Marfan Syndrome – and you can do this by contacting The Marfan Trust. The Trust has informed us that they’d much prefer to test someone who even has the slightest concerns, rather than not know.
The Marfan Trust – Telephone: 020 8725 1189
As we mentioned at the beginning of this article – there are 9,000 people in the UK who are potentially at risk from life-threatening heart conditions. By launching the Driven at Heart campaign, we hope to spread awareness about Marfan Syndrome and try to reach some of these people.
Article from Driven at Heart