On January 1, 2022, Northina, which was originally 700,000 yuan a needle
Raw sodium injection was negotiated by the national medical insurance to reduce the price to 33,000 yuan, so that tens of thousands of spinal muscular atrophy patients on the mainland saw the hope of "raw".
Spinal muscular atrophy is a rare disease. The so-called rare disease refers to a disease with a very low prevalence and rare prevalence, which is generally a chronic and serious disease, often life-threatening. The World Health Organization defines rare diseases as diseases or lesions that affect between 0.65‰ and 1‰ of the total population; there are nearly 7,000 rare diseases recognized internationally, accounting for about 10% of human diseases. According to this ratio, the total number of patients with various rare diseases in the mainland should be as many as 10 million.
Rare diseases are not uncommon, and in many cases clinicians delay diagnosis because they do not understand the characteristics of these diseases. In recent years, the rare diseases diagnosed by the Pediatric Department of Weinan Maternal and Child Health Hospital include: 2 cases of spinal muscular atrophy, 5 cases of progressive muscular dystrophy, more than 60 cases of phenylketonuria, more than 200 cases of congenital hypothyroidism, congenital adrenal hyperplasia, G-6-PD, etc. The four diseases mentioned later are all diseases of newborn disease screening, and can be effectively controlled through early diagnosis, early dietary control, drug intervention, and regular health monitoring.
The Mainland Rare Disease Development Center has compiled a list of 269 rare diseases, of which 24 are more common, including: "frozen people", "porcelain dolls", "penguin people", "children who do not eat human fireworks" and so on. Behind these heart-wrenching names is a painful medical history. The last day of February is designated as the International Day for Rare Diseases, which aims to promote public awareness and government awareness of rare diseases and the problems faced by rare disease groups.
The Department of Pediatrics of Weinan Maternal and Child Health Hospital found some special medical records in the diagnosis and treatment of children with backward growth and development and short stature:
Medical record 1: 9 years old, female child, rough skin, no laziness, mental retardation, pituitary MRI suggests adenuitary enlargement, does not exclude pituitary adenoma, post-nail work results suggest hypothyroidism, consider hypothyroidism leading to pituitary lesions, symptoms improve after oral levothyroxine sodium tablets treatment.
Medical record 2: 11-year-old boy, during the diagnosis and treatment of short stature, found an epidermoid cyst in the saddle area, mild compression on the right side of the brainstem, and was transferred to a higher hospital for further examination and treatment.
Various genetic and metabolic diseases that affect children's growth and development will have different symptoms at different ages and stages of children, which are manifested as growth and development problems, muscle tone problems, movement disorders, and various organ damage problems. As the guardian of the child, if it is found that the child's growth and development process deviates from normal, and there is a progressive aggravation trend, repeated infection or other abnormalities, it is necessary to go to the hospital for diagnosis and treatment in time, and the early diagnosis and early intervention of some rare diseases can not affect the child's growth and development.
Rare diseases can lead to children's growth and development disorders, disabilities and even death, as pediatricians, we solemnly emphasize that for the current clear diagnosis, can be treated by drugs, diet intervention treatment of children, parents must attach great importance to informing all guardian members, grandparents, uncles and aunts, brothers and sisters, including childcare institutions, may inadvertently a pill, a mouthful of rice, contact with some contraindicated contact in the environment, may cause fatal damage to the baby, For example, babies with G-6-PD deficiency cannot be exposed to paint, gasoline, camphor, etc.
It is everyone's responsibility to pay attention to children with rare diseases, doctors and guardians.
The author of this article is Liu Pingding, director of the Department of Pediatrics and deputy chief physician of Weinan Maternal and Child Health Hospital, and a top talent in Weinan City. Main social positions: Vice Chairman of the Pediatric Endocrine Genetic Metabolism Professional Committee of the Shaanxi International Medical Exchange Promotion Association, Deputy Director of the Weinan Workstation of the Children's Asthma Prevention and Control Professional Committee of the Shaanxi Health Care Association, Director of the Weinan Pediatric Disease Quality Control Center, Chairman of the Pediatric Professional Committee of the Weinan Medical Association, Vice Chairman of the Neonatal Professional Committee, Vice Chairman of the Child Health Care Professional Committee, and Vice Chairman of the Grassroots Pediatric Professional Committee. Specialty: pediatric severe disease, respiratory, urinary, endocrine system diseases, children's asthma, precocious puberty, short stature and common diseases in children diagnosis and treatment.
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