There are more and more little fat people, which makes people sad, but also makes parents gradually "get used to it". If children are fat, they just eat too much. Controlling diet and taking more exercise are the keys to success. However, one kind of "fat" is very special.
The child looked normal, could eat and sleep, but he was not long, only long stomach. Is it difficult to get fat before middle age? It's obviously not that simple. There are many reasons for a child's "general belly", which may be due to simply eating fat, or the lack of an "enzyme" in the body.
Do you know baby penguins?
There is a kind of disease. Most of the patients are children. Except for a big belly, the others look normal. The baby walks like a penguin, which is also called "baby penguin". Just for this, you may not be afraid, or even feel a little cute. However, the sick child is very painful.
This disease is called Gaucher disease. It is a serious and progressive disease. Due to the congenital lack of β - glucocerebrosidase in the patient's body, the glucocerebrosidase stored in the body cannot be metabolized and is accumulated in the patient's liver and spleen.
The disease will lead to hepatosplenomegaly, anemia, bone lesions, bone marrow and organ function changes in children. If early treatment is missed, not only will development be affected, but also multiple organs will be involved in the whole body and become progressively worse, eventually leading to death.
According to the 2018 China Rare Disease Survey Report, only 33.3% of doctors admitted that they had only heard of rare diseases, but did not know about them. The prevalence rate of Gaucher disease is only 1/500000, which is also a rare disease. Because there are no specific symptoms and signs, clinical misdiagnosis, missed diagnosis and delayed diagnosis are quite common. Data show that nearly 50% of patients with Gaucher disease have delayed diagnosis for more than 5 years.
"60% of Gaucher's disease occurs in childhood. Parents and doctors in relevant departments should be aware of the relevant symptoms of Gaucher's disease. If symptoms such as splenomegaly, thrombocytopenia, bone pain, and growth retardation are found, Gaucher's disease should be diagnosed or ruled out through glucocerebrosidase activity test (dry blood paper method) in hospitals with diagnosis and treatment conditions as soon as possible." Dr. Meng Yan, Deputy Chief Physician of Pediatric Department of the General Hospital of the Chinese People's Liberation Army, and member of the Rare Diseases Branch of Beijing Medical Association, appealed.
Rare diseases, as its name implies, have few patients. There are more than 7000 known rare diseases in the world. Of course, not all rare diseases are fatal, but some rare diseases can seriously reduce the quality of life of patients, or even kill them.
Remember the "Ice Bucket Challenge" that swept the world? The event started in the United States and expanded to the world, with celebrities from all walks of life joining the challenge. In the United States alone, 1.7 million people participated in the challenge, 2.5 million people donated, with a total amount of 115 million dollars, which may be the largest amount of money donated for a certain disease or emergency.
It was such a challenge that made everyone suddenly realize that Stephen Hawking's disease was ALS (amyotrophic lateral sclerosis, also known as "frozen people").
Celebrity effect makes some rare diseases known. In addition to Hawking, there is also a talented cellist Jacqueline Dupree, who "broke the strings" due to multiple sclerosis. Because most of the patients are young women, multiple sclerosis is also known as "beauty disease".
"Lucky child" in rare diseases
In May 2018, the national edition of the First Batch of Rare Diseases Catalogue was released, which included 121 rare diseases, and again attracted the public's attention to rare disease groups.
Rare diseases are diseases whose number of patients accounts for 0.65 ‰~1 ‰ of the total population. The number of rare disease patients in China is very large, estimated to exceed 10 million. Rare diseases are one of the biggest challenges facing human medicine. Of the 7000 known rare diseases, 80% belong to gene defect diseases, and human beings have little knowledge of them. How to treat it is even more difficult.
Dr. Meng Yan said: "At present, there are no specific drugs for most rare genetic diseases, and only 1% of rare diseases have therapeutic drugs."
Among the 1% of the lucky children, there are Gaucher's disease and multiple sclerosis. After medication, patients can basically return to the life of ordinary people. However, the cost of drug maintenance is very high and not everyone can afford it. Professor Ding Jie, vice chairman of the Expert Committee on Diagnosis, Treatment and Guarantee of Rare Diseases of the National Health Commission and Peking University First Hospital, said that no matter what kind of disease, prevention is better than treatment, especially for rare diseases.
Since 80% of rare diseases belong to gene defect diseases, it is important to do a good job of prenatal screening. However, is it necessary for everyone to do genetic testing?
"Not every rare disease is worth screening, because the cost is too high, and high-risk patients need screening." Professor Ding Jie said frankly that she did not agree that rare diseases and genetic diseases should become routine screening projects. It should be very scientific for experts to decide what kind of diseases should be screened and who are high-risk people who need to be screened. There are many scientific problems involved.
Dr. Meng Yan added that the high-risk group was a child born with a rare disease in the family. When the mother gave birth to a second child, she needed to do a series of examinations, because the child was 25% likely to get sick again. If there is no sick child in the whole family, the mother should do a routine prenatal examination when she is pregnant. Surging journalist Xu Jia
