Purpose
Marfan syndrome is a congenital hereditary disease that has an estimated prevalence of 1 per 5,000 in the population. There are about 25,000 Marfan patients in Japan.
In a case of an affected parent, each child has a 50% chance of inheriting the disease. In about 25% of Marfan patients, the disease is caused by a gene mutation, in spite of neither parent being affected.
Marfan syndrome is a disease of connective tissues, caused by weakening in tissues that support other tissues and provide strength. The weakening can affect many body systems, including the skeleton, eyes, heart, blood vessels, and lungs. There are differences in manifestations and severity among the patients.
If the patients are managed well with the correct diagnosis, regular examinations, and treatment, they will usually be able to live to an average age of almost 70 years old. But if not, severe cardiovascular symptoms may suddenly appear, and many patients will be stricken with them.
It is considered that they will live to an average age of only 30~40 years old. Research has shown that about 95% of the deaths caused by Marfan Syndrome involve the cardiovascular system.
From the outset the patients and their families must have the correct knowledge about Marfan Syndrome and find good specialists and hospitals to avoid future crises in their lives. Meanwhile the patients and everyone who is involved with them need to find their own way of dealing with the disease. They also need to create a good environment to live a better quality of life without discrimination and prejudice.
Therefore this Association has activities and support listed as follows and enables everyone to obtain useful information about Marfan Syndrome easily.
- 1. To work not only for the patients and their families, but also anyone in areas involved with Marfan Syndrome to learn correct information about the disease.
- 2. To work with the patients to create networks in medical care, the welfare system, and among Marfan patients.
- 3. To reduce the anxiety of patients and their families by creating an environment for them to share and interact what is valuable to them, and to change society’s impressions of the disease so that the patients may live more positive personal and social lives.
4. To work to find research on Marfan Syndrome and the curative treatment. To work to solve comprehensive problems, such as organizing the medical system to reduce the surgical risks and the economic burden.
Through these activities, the Association is working to avoid crises in the lives of those with Marfan Syndrome, and improve the environment surrounding Marfan Syndrome on the basis two fundamental principles, which are “ Information saves lives,” and “ Information supports healthy living.” That is our goal.
An application process
The history of a private organization for Marfan Syndrome in Japan began in 1996 when a woman with Marfan Syndrome first put out information about the disease on the Internet. Her activity led to the formation of a community of patients and an organization of social activities.
Gaps still remain in information and medical treatment, due to lack of information and knowledge about Marfan Syndrome. There also remains shortages of regional networks and communities to assist the patients.
There are so many problems in the environment surrounding Marfan Syndrome. Many organizations need to link arms and help each other to improve. We believe a support group to build solidarity is essential.
As a result, we started Japan Marfan Association as a non-profit organization. We are developing the structure of our organization, increasing visibility and credibility, gaining approval, and positioning the support organization to build solidarity and spreading our activities nationwide.