□Reporter Li Xiaomin Li Qian
February 28 this year is “International Rare Disease Day”. At present, about 7,000 rare diseases have been discovered in the world, and the number of rare disease patients in my country has reached more than 20 million.
“Our province has reported nearly 20,000 rare disease cases, involving nearly 100 types of diseases.” Professor Sun Yingpu of the First Affiliated Hospital of Zhengzhou University introduced. Professor Sun Yingpu is a member of the first batch of expert committees of the National Rare Disease Quality Control Center, responsible for the quality control and data reporting of rare diseases in Henan Province.
The once 700,000 yuan injection of Nosinagen Sodium Injection was included in the medical insurance, a group of hospitals carried out free popular science consultations and free examinations for rare diseases, and insisted on screening pregnant women and newborns for related diseases… In Sun Yingpu’s view, rare diseases and their patient groups have received unprecedented attention in recent years.
Drugs for rare diseases are often expensive. How to promote the implementation of “high-priced drugs” so that more patients can afford the drugs has become the focus of rounds of medical insurance negotiations.
Up to now, more than 60 kinds of rare disease drugs have been approved for marketing in China, and more than 40 kinds of drugs have been included in the national medical insurance drug list, involving 25 kinds of diseases. Last year, a total of 7 rare disease drugs were successfully negotiated, with an average drop of 65%.
In order to promote major breakthroughs in rare disease research in medicine, the China Rare Disease Alliance was established in 2018. Among them, the First Affiliated Hospital of Zhengda University and the First Affiliated Hospital of Henan University of Traditional Chinese Medicine are both member units. The First Affiliated Hospital of Zhengda University also led the establishment of the China Rare Disease Alliance Henan Collaboration Group.
This multi-department joint exploration treatment model is bringing more care and hope to rare disease families.
Liao Shixiu, director of the Institute of Medical Genetics of Henan Provincial People’s Hospital, told reporters that over 80% of rare diseases are hereditary diseases.
Since 2017, our province has included prenatal screening, prenatal diagnosis and newborn “two diseases” screening for pregnant women of appropriate age into the key free projects for people’s livelihood for 6 consecutive years. Find children with rare diseases early and help them.
According to statistics, a total of 1,614 children with chromosomal diseases such as trisomy 21 were diagnosed through free prenatal diagnosis in our province last year, and a total of phenylketonuria was diagnosed through newborn screening of “two diseases” (PKU) 185 cases, hypothyroidism (CH) 711 cases.
However, due to the small number of clinical cases, little treatment experience, and the existence of practical problems such as high misdiagnosis rate, low availability of medicines, and inability to use medicines, the survival status of patients with rare diseases still needs to be understood by the society. More caring and caring.