社團法人臺灣雷特氏症病友關懷協會｜Taiwan Rett Syndrome Association

社團法人臺灣雷特氏症病友關懷協會積極服務雷特氏症家庭。罕見疾病雷特氏症(Rett syndrome)影響女孩神經發育，發生率約1萬2000分之一，X染色體長臂上的人類甲基化CPG結合蛋白2(methyl-CpG-binding protein-2；MECP2)基因突變所致，退化性症候群被醫學界認為是「沒有未來的孩子」，常見發病於出生18個月後女性，出現發展遲緩眼神渙散，主要特徵有雙手搓手、步伐不穩容易跌倒、癲癇丶不停的流口水，此生沒有手功能、沒有語言、吞咽困難也無法自行排便，需要大量的奶粉及尿布，生活無法自理加上24小時長期照護下，對其家庭帶來嚴峻的挑戰。

Taiwan Rett Syndrome Association actively supports and serves families affected by Rett Syndrome. Rett syndrome is a rare disease affecting the neurological development of girls, caused by mutations in the MECP2 gene on the X chromosome. It occurs in approximately 1 in 12,000 female births and is regarded by the medical community as a degenerative syndrome, often described as impacting "children without a future." Symptoms typically appear after 18 months and include developmental delays, gaze abnormalities, hand-wringing, unsteady walking, frequent falls, seizures, drooling, and loss of hand function, speech, and the ability to swallow or control bowel movements. Patients with Rett syndrome require special care, including substantial amounts of formula, diapers, and 24-hour assistance, creating severe challenges for their families.