〈ｒａｒｅ ｂｕｔ ｎｏｔ ａｌｏｎｅ〉――
〈ｒａｒｅ ｂｕｔ ｎｏｔ ａｌｏｎｅ〉――
In 1986, Association of Gaucher Disease Patients and Their Families, which became the current association, was founded. Although it started out with only two families, the members grew gradually and more than 70 families have now joined the association. As a result, the use of special medications was approved by the government, and Gaucher’s disease (also known as Gaucher disease) was listed as an incurable disease in Japan. It is estimated that there are currently about 120 Gaucher disease patients in Japan. After nearly 30 years of association activity, we changed the name of our association to Association of Gaucher Disease Patients in Japan on May 4, 2015. We share a hope for further development of new medical treatments and drugs.
Gaucher disease is a genetic disorder of the metabolism and is one of the lysosomal storage diseases. In 2001, it was listed as an incurable disease in Japan. The disorder is characterized by an enlargement of the liver, anemia, low blood platelets and osteoporosis. Depending on the type of disease, symptoms also include eye movement disorders, convulsions and difficulty in breathing. Patients with severe neurological symptoms may have complications such as hydrocephalus, calcified valves of the heart and pulmonary hypertension. Patients with severe neurological symptoms often live into their early teen years and adulthood but they could die at any time. Even without severe neurological symptoms, patients have to go to school or work and deal with the disease at the same time.
Gaucher disease patients and their families live their everyday life in a state of constant anxiety about the disease. Since Gaucher disease is very rare, the reality is that there are not that many other families around who could share the similar concerns. It is our wish that the association activities can aid the recognition and acceptance of Gaucher disease in Japan. We will establish a support network through which knowledge and advice can be shared. In addition, the association actively seeks support from medical facilities, research organizations and pharmaceutical companies. By doing this, it is our hope that the association could contribute to further development of new medical treatments.
For the patients who are currently fighting against the disease and for those who may be diagnosed with the disease in the future, it is our goal to establish association activities filled with warmth and hopes of living.
In Europe, the European Gaucher Alliance (EGA) established the International Gaucher Day on July 26th, which was Dr. Philippe Gaucher’s birthday. Various organizations from European countries have been actively educating the public about Gaucher disease. In Japan, the association has established May 4th as Gaucher Day in Japan and tries to educate the general public about Gaucher Disease. We plan to hold a study session on International Gaucher Day and provide the opportunity to learn the latest medical treatments while socializing among the association members. We also intend to interact with organizations from other countries, especially the ones in Asia.
Once a year, we plan to hold a study session with medical doctors so that patients and their families are able to learn the latest medical treatments about the disease. The study session also provides the opportunity for association members to socialize and interact with one another, which in turn helps to improve the quality of life among patients and their families.
We plan to publish a newsletter and record association activities. Through the newsletter, we are able to provide the information for those who are not able to attend study sessions or meetings and for those who do not engage in web-based social networking.
Once a year, we observe Gaucher Day in Japan and we publish a leaflet containing the information about Gaucher disease and a list of activities the association provides. We plan to distribute this leaflet at doctors’ offices and medical and welfare facilities in hopes to promote the understanding of the disease among doctors and in communities. By doing this, our goal is to diagnose the symptoms at an early stage and to start the treatment sooner rather than later.
By using the association’s homepage and Facebook, we are able to provide the latest information about the disease and current association activities.
Through the interaction with organizations of other diseases, the association enables us to stay focused on common goals.
We plan to attend seminars and symposia hosted by other organizations and strive to understand the latest medical advancements.
We plan to enhance the activities of the association by interacting with other Gaucher disease organizations in the world.
Two hands symbolize a joining of the spirit between patients and doctors as well as a connection among those who support Gaucher disease patients. A four-leaf clover held within the hands symbolizes our wish to bring happiness to Gaucher disease patients and their supporters.
Children with Type II and Type III Gaucher Disease in Japan
2015年 9月 01日
The majority of Gaucher disease patients in Japan are diagnosed as Type II or Type III,
which is characterized by neurological problems.
With the recent establishment ofan enzyme replacement treatment,
children with Gaucher disease have been able to better cope and live with the disease.
【翻訳協力】 Akiko Onodera Hillさん