Kyoko Hashimoto, ambassador of the Japanese Hermansky-Pudlak Syndrome Association (JHPSA) and Takuma Ishii, Assistant Professor, M.D. Pediatrician, Clinical Geneticist, and Clinical Cytogeneticist, Department of Public Health and Genetic Counseling Program, Graduate School of Medicine, Chiba University and Division of Genetic Counseling and Clinical Genetics, Chiba University Hospital, attended the HPS Network Conference in New York.
The JHPSA, founded after a meeting between two Japanese citizens with HPS in Tokyo, currently has seven members. The JHPSA maintains a Web site and Yahoo! group.
According to papers from Japan published in American medical journals, it’s believed HPS may be the second most common type of albinism among people of Japanese background.
Ambassador Hashimoto brought a written copy of the story of her life to share. Below are some of the highlights.
Hashimoto was born in Osaka, Japan in 1962. She was born with black hair, therefore was not initially diagnosed with albinism or Hermansky-Pudlak Syndrome.
When she turned four, her hair began to change color to a more reddish blonde. Even from an early age Hashimoto says she bruised easily. At a medical visit to enter school, Hashimoto’s parents learned of her visual disability and she was sent to a school for the blind.
Upon entering high school, she was the first visually impaired person to be accepted to her high school. There she began studying to be a physical therapist. After finishing high school Hashimoto applied to mainstream technical schools but was refused because of her visual impairment.
She enrolled in a technical school for the blind and continued her studies in Tokushima. Soon after Hashimoto became ill and required a procedure that bled unusually. It was suggested she might have HPS, however, there was little information available about the disorder in Japanese. She was unable to get a firm diagnosis.
After the experience Hashimoto moved to Tokyo for rehabilitation training and began to work in the social welfare field. Tokyo offered more job opportunities and convenient public transit.
In her 20s, Hashimoto was also diagnosed with Meniere’s Disease, a disorder that affects hearing. Her symptoms became worse and soon Behcet’s Disease, an autoimmune disorder, was also added to her list of diagnoses. After another surgical procedure, Hashimoto’s bleeding again caught the attention of physicians.
Hashimoto remembered the previous suggestion of HPS and began to do research on the internet. There she found a physician who helped her to get a firm diagnosis.
Since then she’s been active in the JHPSA and is now its ambassador (much like our President). Hashimoto and Ishii were eager to learn more about current HPS research and to connect with the American HPS community.