Kureha

Japan

This is Kureha and she is a 9 year old girl who lives in Japan. She was diagnosed in October of 2022. There has been no change in her daily life since her diagnosis. Kureha continues to attend school, day services, speech and language rehabilitation, and tells her family how she is doing at home. At her elementary school, she attends a support class and studies with support. Kureha attends after-school day service, piano and painting classes. She is very active, competitive and challenging. For fun, Kureha enjoys doing puzzles and playing with clay.

Her doctor is Dr. Kawame of the Department of Genetics at Miyagi Children's Hospital.
The 451st base C of the WAC gene has been changed to T. The arginine, the 151st amino acid of the protein formed from the WAC gene, is not produced, so the function of the WAC gene is affected. The doctor says that no other patient has the exact same genetic change as Kureha. In Japan, information on DESSH is scarce. No one else in Japan has the same disease, so information cannot be exchanged. DeSanto-Shinawi Syndrome is not recognized as an incurable disease in Japan. Her family worries about Kureha, because they do not know what kind of symptoms she will have in the future. Her family looks to the DESSH community that is connected through social media, where they find hope and encouragement. They send a thank you from Japan.