Zhong An Online, Zhong An News Client News “Porcelain Doll” (Osteogenesis Imperfecta), “Slimy Baby” (Mucopolysaccharidosis), “Marionette” (Multiple Sclerosis), “Moon Angel” (Albinism)…Behind these seemingly beautiful names, there is a group of people who are not familiar to the outside world – patients with rare diseases. The “Research Report on the Definition of Rare Diseases in China 2021” first proposed the “Definition of Rare Diseases in China in 2021”, that is, diseases with a neonatal incidence rate of less than 1/10,000, a prevalence rate of less than 1/10,000, and a patient population of less than 140,000 “Included in Rare Diseases.
Although the disease is rare, people with it are not uncommon. At present, there are about 1,400 known rare diseases in China, with nearly 20 million people affected, and 200,000 new rare disease patients every year. Due to the difficulty of diagnosis, a large number of rare diseases are treated as common diseases, or go undetected, so the actual number may be higher.
Chen Mingwei, head of the medical department of the First Affiliated Hospital of Anhui Medical University, introduced that 80% of rare diseases are related to genetics, and about 50% of rare diseases are diagnosed at birth or during childhood. Scientific and effective prenatal screening and prenatal diagnosis during pregnancy can prevent the birth of children with birth defects in time. Genetic testing technology can screen whether couples carry known rare disease genes, clarify the direction of diagnosis and treatment, and intervene through medical means, so as to avoid the birth of children with rare diseases. Therefore, it can be said that the distance between rare diseases and us is actually the distance between careful pre-pregnancy inspection and pregnancy inspection.
This year’s February 28th is the 15th International Rare Disease Day. On that day, the First Affiliated Hospital of Anhui Medical University will hold a free clinic in conjunction with multiple departments. Well-known experts in the field of rare diseases in the province will answer your questions on the spot. If you are confused, you are welcome to the general public who are concerned about rare diseases to consult and inquire.
Free clinic time: February 28 (Monday) 9:00 am
Free clinic location: Jixi Road Outpatient Plaza
Free clinic departments: Neurology, Infectious Diseases Department of Endocrinology, Department of Hematology, Department of Nephrology, Department of Rheumatology and Immunology, Department of Pediatrics, Department of Respiratory and Critical Care Medicine, Department of Cadre Respiratory and Critical Care Medicine, Department of Dermatology, Department of Obstetrics and Gynecology, Nursing, etc.