Why we need to raise funds
Prospect of reduced life expectancy (less than 40 years of age) due to complications arising from aneurysm of the aorta.
This especially affects young and middle aged adults. There is currently no known curative medical treatment for Marfan syndrome other than surgery for complications.
There are no accurate statistics on death caused by arterial or aortic aneurysm in Australia.
Data from the United States indicates that death from rupture or dissection of aortic aneurysm is the seventh most common cause of death, although most of these deaths are due to a ruptured abdominal aortic aneurysm in elderly patients who do not have Marfan syndrome.
Marfan syndrome and aneurysm disease education has a low priority in medical school curricula.
Compared to other less dangerous conditions, junior doctors in emergency departments in Australian hospitals have little awareness of the potential dangers or clinical features of dissection or rupture of thoracic and aortic aneurysm.
In Australia, Marfan patients and their families currently rely on information from websites of Marfan syndrome organisations outside of Australia such as the National Marfan Foundation in the United States.
There is no national Marfan organisation in Australia that aims to provide support for Australians who suffer from Marfan syndrome. There are several Australian Marfan associations in each state and territory but there is little connection between those associations. Marfan Foundation aims to connect all Australian Marfan associations and build an Australian support network for Marfan syndrome patients and their families.
With the discovery of new conditions, a confident diagnosis of Marfan syndrome has become increasingly difficult without the aid of genetic testing.
Because of the cost of genetic testing, availability is limited in Australian public hospitals. Genetic testing can be carried out privately but it comes with a fee of around $2,000. Genetic testing can also be problematic in terms of interpretation of the results.