Source: People’s Daily Online – Hunan Channel
People’s Daily Online, Changsha, February 27th. February 28th is the 15th “International Rare Disease Day”, and this year’s theme is “Share the Color of Your Life” “. On February 27, Hunan Maternal and Child Health Hospital held the launching ceremony of the 15th “International Rare Disease Day” theme series.
Liu Jingshi, director of Hunan Maternal and Child Health Hospital, said that the purpose of this event is to popularize the knowledge of rare diseases and pay attention to children with rare diseases. The Provincial Maternal and Child Health Hospital is the Hunan Provincial Prenatal Diagnosis Center and Neonatal Disease Screening Center. It has been committed to the early detection and intervention of rare diseases, and has formed a “screening-diagnosis-treatment-rebirth guidance-prenatal diagnosis” A comprehensive service chain model for rare diseases. In the past 20 years, it has provided prenatal diagnosis services for nearly 1,000 rare disease families, effectively preventing these families from having children again, and provided diagnosis, treatment and long-term follow-up for more than 4,000 children with inherited metabolic diseases.
At the event, Ms. Liu, the representative of rare disease family members, told her story. Ms. Liu’s son weighed 6.6kg when he was born, and all examinations were normal. But it didn’t take long for the child to have repeated diarrhea, and he was hospitalized for more than a month without improvement. In April 2020, he was diagnosed with congenital immunodeficiency disease. Unfamiliarity with the disease, worries about children, and helplessness about the future have caused the whole family to panic. Later, I learned that it can be cured by hematopoietic stem cell transplantation, and my hope was instantly ignited. The family moved to Shanghai. After three months of preparation, Ms. Liu’s son successfully completed the hematopoietic stem cell transplantation.
It is understood that in 2019, Hunan Maternal and Child Health Hospital established a multidisciplinary team for rare diseases, including the National Health Commission Key Laboratory of Birth Defect Research and Prevention, Medical Genetics, Neonatology, Children’s Rehabilitation, Scientific research and clinical experts from the Children’s Health Department, Children’s Eye Health Department, and Children’s Otolaryngology Department open a multidisciplinary outpatient clinic for rare diseases in Room 302, 3rd Floor, Chengxin Building, all day from Monday to Friday. The genetic research and intervention of disorders have reached the first-class level in China.
At the launching ceremony, a publicity video about rare diseases — “Be Different and Never Give Up” was played. The event made love donations to the ten PKU children’s families who attended the event, and distributed materials worth nearly 2,000 yuan to each of them.
Hunan Maternal and Child Health Hospital will conduct free free clinics and consultations online and offline on February 28, and will launch international rare disease activities in conjunction with 14 city and prefecture Maternal and Child Health Hospitals. (Huang Rui Han Xu)