I don't know
I want to share my anxiety and overcome it together.
Bloom syndrome is an extremely rare, incurable disease, affecting only 10 to 40 people in Japan. It is a hereditary disease that was first diagnosed in 1954 by Dr. David Bloom of New York City. It was first reported in Japan in the 1960s, and was designated as an incurable disease and a specific chronic childhood disease in 2012.
We aim to connect people with Broome and their families and create a community where we can work together to address the anxieties and worries that come with this disease.
what's new
What's new
August 2, 2024: International Conference on Bloom Syndrome held in Frankfurt, Germany.
Participation of specialists and family association representatives from Japan
2025.09.10 日本：新規正会員2名加入。
これで合計5家族、患者6名になりました。
2024.02.22 Release of Bloom Syndrome leaflet
(Medical supervision: Dr. Hideo Kaneko)
2023.08.08Published Japanese translation of handbook for people with Bloom syndrome and their families
2023.08.08Published Japanese translation of handbook for people with Bloom syndrome and their families
2023.08.08Published Japanese translation of handbook for people with Bloom syndrome and their families
What is Bloom Syndrome?
○ Bloom syndrome is an extremely rare genetic disorder that causes short stature and immunodeficiency.
Approximately 300 cases have been reported worldwide, with an estimated dozen in Japan.
○ An immunodeficiency disorder characterized by characteristic physical findings and increased radiosensitivity due to chromosomal instability.
This is a disease that often results in malignant tumors.
○ The disease is caused by a mutation in the BLM gene, which produces a protein called DNA helicase.
It is also inherited in an autosomal recessive manner.
Clinical symptoms include small body size, characteristic facial features, photosensitive erythema, hematopoietic failure, and increased radiosensitivity.
There is a high rate of leukemia, lymphoma, other cancers, and diabetes.
○ Test findings are diagnosed by abnormalities in the BLM gene and include decreased immunoglobulin levels.
About Family Meetings
We are currently a group of three families. We deepen our relationships through occasional discussions and consultations in our LINE group.
○ We have begun the following activities to overcome the serious illness known as Bloom Syndrome.
○ In 2023, the Japan Bloom Family Association was established by families with Bloom syndrome through Dr. Hideo Kaneko.
○ Translated the handbook for patients and families created by the American BSA (Bloom Syndrome Association)
○ Created a homepage for the Japan Bloom Family Association
○ Collaboration and information exchange with the globally active BSA (Bloom Syndrome Association)
○ The first Bloom syndrome family and expert workshop will be held in Tokyo in 2023
○ In 2024, a Japan-US-European collaboration will be held to evaluate the usefulness of preventive testing for Bloom syndrome.
Collaborative clinical trial planning
○ Applying for research grants for clinical research
○ Creating a Japanese Wikipedia homepage for Bloom's syndrome