Lee xiao min, the top news reporter
Crying like kittens, weight and mental retardation ... In the henan medical genetics institute, the seven-month-old tintin was diagnosed as “cat called syndrome”。
According to the director of the institute, “cat called syndrome” is a rare disease with an incidence of approximately 1/50000-1/20000. On 28 february, the fourteenth international day of racist diseases, the sixth floor of the provincial people's hospital clinic, the henan provincial institute of medical genetics, held a large-scale consultation and conducted a free genetic examination of 50 cognitively retarded family departments。
She said that rare diseases could not be cured but could be prevented in the prenatal period, so prospective parents needed to focus on prenatal testing。
Crying is unusual. It's rare
Little tintin was the first child of the family, born in a rural village。
Ms. Tsui, the mother of little tintin, said that, at the time of birth, he weighed 5. 2 pounds, and the score was normal. Ding's weight gain was normal in the first month。
But there was a neighbor who looked at the children and wondered: "how can a child cry like other children?" it's kind of like a cat barking."
However, neither ms. Xu nor her family were concerned。
When the child was examined for 100 days, the doctor found that the child was significantly underweight. At that point, ms. Xu thought that when she became pregnant, she had a very high level of pregnancy, and that the four-dimensional extra hours during pregnancy showed that the child was 10 days younger than the pregnancy week。
"it's probably the child's weak base, maybe just to grow up." she thought。
When he was six months old, his family took him to a local hospital for a medical examination, at which time he not only did not catch up with normal levels of weight, but also had less intellectual development than his peers。
One of the doctors in the children's health section of the hospital had followed liao seok-soo in her further studies, where she was highly suspected that the child was “cat called syndrome” and had recommended that ms. Xu take the child to the henan provincial institute of medical genetics at the provincial people's hospital。
Indeed, at the henan medical genetics institute, little tintin was diagnosed with “cat called syndrome” through genetic tests。
According to liao, “cat called syndrome” is a partial absence of chromosome number 5, mainly in the form of mental retardation and stunted growth, small head malformations, low birth weight and low muscle tension during the infant's period, with special appearances in broad eye distance, low ear slots, small jaws and round face。
Incidence of this disease is estimated at 1/50000-1/2000, mortality is low, many patients survive to adulthood, and infants live with severe mental disorders (iq)
The first list of rare diseases involves 121
“most of the rare diseases are genetic diseases, a disease caused by genetic changes, which cannot be cured at this time.” according to liao, there are currently more than 7,000 rare diseases identified globally, which are not rare in china because of the large population base and the number of people suffering from rare diseases close to 20 million。
In may 2018, the state 5 jointly published the catalogue " first rare diseases " , covering 121 rare diseases。
In february 2019, the national health commission announced the establishment of a national network of collaborations for rare cases to strengthen the management of rare diseases in china and to improve the level of treatment for rare cases。
Since 1 march 2019, china has imposed a value-added tax on its first 21 rare diseases and 4 raw-material drugs and reduced imports by 3 per cent based on anti-cancer drugs, with the option of a simple 3 per cent value-added tax on the domestic chain。
The rare diseases that are known in the country are: diarrhea, haemophilia, sma, phenylketonuria, albinism, marfan syndrome, etc。
“although it cannot be cured, it can be prevented.” liao said, for example, that rare diseases known above can be diagnosed through genetic tests。
Four groups are given genetic counselling before giving birth
In order to improve the quality of the birth population, free prenatal screening has been introduced in henan province since 2017 and free prenatal diagnosis in 2019. At the same time, the fund is currently able to provide assistance of up to 30,000 yuan if it is diagnosed as a rare disease。
“a growing number of couples are becoming aware of the importance of prenatal screening and prenatal diagnosis. Antenatal screening and prenatal diagnosis during pregnancy, which are scientifically effective, can prevent the birth of children with birth defects in a timely manner, not only in favour of eugenic fertility and family well-being, but also in a positive role in optimizing the quality of the population and reducing the burden on families and society。
Early in the morning of 26 february, mr. Chen and his lover, together with their three-year-old son, arrived at the henan medical genetics institute to participate in a free genetic testing exercise. A year ago, the child was identified as having problems because he was clearly below the age of the child. This time, he wanted to check with the child and then prepare for a healthy child。
“there are four categories of persons who are required to consult genetically before preparing for pregnancy.” according to liao, the first category consists of older couples over 35 years of age, the second category consists of couples with a family history of genetic diseases; the third category consists of couples who have had children with birth defects; and the fourth category consists of people who are exposed to adverse environmental conditions, such as physical, chemical, etc。
